研究業績

主要業績(Major Publications)

  • Kanagawa M, Kobayashi K, Tajiri M, Manya H, Kuga A, Yamaguchi Y, Akasaka-Manya K, Furukawa J, Mizuno M, Kawakami H, Shinohara Y, Wada Y,Endo T,Toda T. Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy. Cell Reports14:2209-2223, 2016.
  • Katanosaka Y, Iwasaki K, Ujihara Y, Takatsu S, Nishitsuji K, Kanagawa M, Sudo A, Toda T, Katanosaka K, Mohri S, Naruse K. TRPV2 is critical for the maintenance of cardiac structure and function in mice. Nat Comm 5:3932, 2014.
  • Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, DiMauro S, Kaji R, Yokota T, Takeda S, Toda T. Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature 478:127-131, 2011
  • Saito F, Kanagawa M, Ikeda M, Hagiwara H, Masaki T, Ohkuma H, Katanosaka Y, Shimizu T, Sonoo M, Toda T, Matsumura K. Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice. Hum Mol Genet 23:4543-4558, 2014.
  • Kanagawa M, Yu CC, Ito C, Fukada SI, Hozoji-Inada M, Chiyo T, Kuga A, Matsuo M, Sato K, Yamaguchi M, Ito T, Ohtsuka Y, Katanosaka Y, Miyagoe-Suzuki Y, Naruse K, Kobayashi K, Okada T, Takeda S, Toda T. Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression. Hum Mol Genet 22:3003-3015, 2013.
  • Tachikawa M, Kanagawa M, Yu CC, Kobayashi K, Toda T. Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration. J Biol Chem 287:8398-8406, 2012
  • Kuga A, Kanagawa M, Sudo A, Chan YM, Tajiri M, Manya H, Kikkawa Y, Nomizu M, Kobayashi K, Endo T, Lu QL, Wada Y, Toda T. Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing a non-laminin binding form of alpha-dystroglycan. J Biol Chem 287: 9560-9567, 2012
  • Hara Y, Kanagawa M, Kunz S, Yoshida-Moriguchi T, Satz JS, Kobayashi YM, Zhu Z, Burden SJ, Oldstone MB, Campbell KP. Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection. Proc Natl Acad Sci USA 108:17426-17431, 2011
  • Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltran-Valero de Bernabe D, Gundesli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MB, Accardi A, Talim B, Muntoni F, Topaloglu H, Dincer P, Campbell KP. A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med 364:939-946, 2011
  • Kanagawa M, Omori Y, Sato S, Kobayashi K, Miyagoe-Suzuki Y, Takeda S, Endo T, Furukawa T, Toda T. Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization. J Biol Chem 285:31208-31216, 2010
  • Satake W, Nakabayashi Y, Mizuta I, Hirota Y, Ito C, Kubo M, Kawaguchi T, Tsunoda T, Watanabe M, Takeda A, Tomiyama H, Nakashima K, Hasegawa K, Obata F, Yoshikawa T, Kawakami H, Sakoda S, Yamamoto M, Hattori N, Murata M, Nakamura Y, Toda T. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nature Genet 41:1303-1307, 2009
  • Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Durr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 361:1651-1661, 2009
  • Kanagawa M, Nishimoto A, Chiyonobu T, Takeda S, Miyagoe-Suzuki Y, Wang F, Fujikake N, Taniguchi M, Lu Z, Tachikawa M, Nagai Y, Tashiro F, Miyazaki J, Tajima Y, Takeda S, Endo T, Kobayashi K, Campbell KP, Toda T. Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. Hum Mol Genet 18:621-631, 2009
  • Han R, Kanagawa M, Yoshida-Moriguchi T, Rader EP, Ng RA, Michele DE, Muirhead DE, Kunz S, Moore SA, Iannaccone ST, Miyake K, McNeil PL, Mayer U, Oldstone MBA, Faulkner JA, Campbell KP. Basal lamina strengthens cell membrane integrity via the laminin G domain binding motif of α-dystroglycan. Proc Natl Acad Sci USA 106:12573-02579, 2009
  • Sato S, Omori Y, Katoh K, Kondo M, Kanagawa M, Miyata K, Funabiki K, Koyasu T, Kajimura N, Miyoshi T, Sawai H, Kobayashi K, Tani A, Toda T, Usukura J, Tano Y, Fujikado T, Furukawa T. Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation. Nature Neurosci 11:923-931, 2008
  • Fujikake N, Nagai Y, Popiel HA, Okamoto Y, Yamaguchi M, Toda T. Heat shock transcription factor 1 (HSF1)-activating compounds suppress polyglutamine-induced neurodegeneration through induction of multiple molecular chaperones. J Biol Chem 283:26188-26197, 2008
  • Nagai Y, Inui T, Popiel HA, Fujikake N, Hasegawa K, Urade Y, Goto Y, Naiki H, Toda T. A toxic monomeric conformer of the polyglutamine protein. Nature Struct Mol Biol 14:332-340, 2007
  • Kano H, Kurahashi H, Toda T. Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype. Proc Natl Acad Sci USA 104:19034-19039, 2007
  • Autism Genome Project Consortium (Kobayashi K). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genet 39:319-328, 2007
  • Kiyonaka S, Wakamori M, Miki T, Uriu Y, Nonaka M, Bito H, Beedle AM, Mori E, Hara Y, De Waard M, Kanagawa M, Itakura M, Takahashi M, Campbell KP, Mori Y. RIM1 confers sustained activity and neurotransmitter vesicle anchoring to presynaptic Ca2+ channels. Nature Neurosci 10:691-701, 2007
  • Takahashi Y, Okamoto Y, Popiel HA, Fujikake N, Toda T, Kinjo M, Nagai Y. Detection of polyglutamine protein oligomers in cells by fluorescence correlation spectroscopy. J Biol Chem 282:24039-24048, 2007
  • Mizuta I, Satake W, Nakabayashi Y, Ito C, Suzuki S, Momose Y, Nagai Y, Oka A, Inoko H, Fukae J, Saito Y, Sawabe M, Murayama S, Yamamoto M, Hattori N, Murata M, Toda T. Multiple candidate gene analysis identifies α-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum Mol Genet 15:1151-1158, 2006
  • Taniguchi M, Kurahashi H, Noguchi S, Fukudome T, Okinaga T, Tsukahara T, Tajima Y, Ozono K, Nishino I, Nonaka I, Toda T. Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in α-dystroglycanopathies. Hum Mol Genet 15:1279-1289, 2006
  • Kanagawa M, Saito F, Kunz S, Yoshida-Moriguchi T, Barresi R, Kobayashi YM, Muschler J, Dumanski JP, Michele DE, Oldstone MB, Campbell KP. Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell 117:953-964, 2004
  • Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, Moore SA, Zhang W, Schachter H, Dumanski JP, Cohn RD, Nishino I, Campbell KP. LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nature Med 10:696-703, 2004
  • Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet 12:527-534, 2003
  • Silan F, Yoshioka M, Kobayashi K, Simsek E, Tunc M, Alper M, Cam M, Guven A, Fukuda Y, Kinoshita M, Kocabay K, Toda T. The first case with Fukuyama-type congenital muscular dystrophy in non-Japanese population carrying a novel fukutin mutation and Walker-Warburg syndrome-like phenotype. Ann Neurol 53:392-396, 2003
  • Nagai Y, Fujikake N, Ohno K, Higashiyama H, Popiel HA, Rahadian J, Inui T, Urade Y, Yamaguchi M, Strittmatter WJ, Burke JR, Toda T. Rescue of polyglutamine-induced neurological phenotypes by the peptide inhibitor QBP1 in drosophila disease models. Hum Mol Genet 12:1253-1259, 2003
  • Takeda S, Kondo M, Sasaki J, Kurahashi H, Kano H, Arai K, Misaki K, Fukui T, Kobayashi K, Tachikawa M, Imamura M, Nakamura Y, Shimizu T, Murakami T, Sunada Y, Fujikado T, Matsumura K, Terashima T, Toda T. Fukutin is required for maintenance of muscle integrity, cortical histiogenesis, and normal eye development. Hum Mol Genet 12:1449-1459, 2003
  • Momose Y, Murata M, Kobayashi K, Tachikawa M, Nakabayashi Y, Kanazawa I, Toda T. Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms. Ann Neurol 51:133-136, 2002
  • Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418:417-422, 2002
  • Yoshida A, Kobayashi K (eaqually contributed), Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T (equally contributed), Endo T. Muscular dystrophy and neuronal migration disorder caused by mutations in a novel glycosyltransferase, POMGnT1. Dev Cell 1:717-724, 2001
  • Sasaki J, Ishikawa K, Kobayashi K, Kondo-Iida E, Fukayama M, Mizusawa H, Takashima S, Sakakihara Y, Nakamura Y, Toda T. Neuronal expression of the fukutin gene. Hum Mol Genet 9:3083-3090, 2000
  • Kondo-Iida E, Kobayashi K, Watanabe M, Sasaki J, Kumagai T, Koide H, Saito K, Osawa M, Nakamura Y, Toda T. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet 8:2303-2309, 1999
  • Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394:388-392, 1998
  • Toda T, Miyake M, Kobayashi K, Mizuno K, Saito K, Osawa M, Nakamura Y, Kanazawa I, Nakagome Y, Tokunaga K, Nakahori Y. Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb. Am J Hum Genet 59:1313-1320, 1996
  • Toda T, Yoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y. Genetic identity of Fukuyama type congenital muscular dystrophy and Walker-Warburg syndrome. Ann Neurol 37:99-101, 1995
  • Kobayashi K, Mizuno K, Hida A, Komaki R, Tomita K, Matsushita I, Namiki M, Iwamoto T, Tamura S, Minowada S, Nakahori Y, Nakagome Y. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum Mol Genet 3:1965-1967, 1994
  • Toda T, Ikegawa S, Okui K, Kondo E, Saito K, Fukuyama Y, Yoshioka M, Kumagai T, Suzumori K, Kanazawa I, Nakamura Y. Refined mapping of a gene responsible for Fukuyama type congenital muscular dystrophy; evidence for strong linkage disequilibrium. Am J Hum Genet 55:946-950, 1994
  • Toda T, Iida A, Miwa T, Nakamura Y, Imai T. Isolation and characterization of a novel gene encoding nuclear protein at a locus (D11S636) tightly linked to multiple endocrine neoplasia type 1 (MEN1) Hum Mol Genet 3:465-470, 1994
  • Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Ohno K, Misugi N, Sasaki Y, Takada K, Kawai M, Otani K, Murakami T, Saito K, Fukuyama Y, Shimizu T, Kanazawa I, Nakamura Y. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nature Genet 5:283-286, 1993

ページのトップへ

2016年

  • Kanagawa M, Kobayashi K, Tajiri M, Manya H, Kuga A, Yamaguchi Y, Akasaka-Manya K, Furukawa J, Mizuno M, Kawakami H, Shinohara Y, Wada Y,Endo T,Toda T. Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy. Cell Reports14:2209-2223, 2016.
  • Nakagawa T, Taniguchi-Ikeda M, Murakami Y, Nakamura S, Motooka D, Emoto T, Satake W, Nishiyama M, Toyoshima D, Morisada N, Takada S, Tairaku S, Okamoto N, Morioka I, Kurahashi H, Toda T, Kinoshita T, Iijima K. A novel PIGN mutation and prenatal diagnosis of inherited glycosylphosphatidylinositol deficiency. Am J Med Genet A 170:183-188, 2016.
  • Noda Y, Sekiguchi K, Kohara N, Kanda F, Toda T. Ultrasonographic diaphragm thickness correlates with compound muscle action potential amplitude and forced vital capacity. Muscle Nerve 53:522-527, 2016. Apr;. doi: 10.1002/mus.24902.
  • Taniguchi-Ikeda M, Takeshima Y, Lee T, Nishiyama M, Awano H, Yagi M, Unzaki A, Nozu K, Nishio H, Matsuo M, Kurahashi H, Toda T, Morioka I, Iijima K. Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother. J Hum Genet 61:351-355, 2016.
  • Washida K, Kowa H, Yamamoto Y, Kanda F, Toda T. Dopamine transporter imaging as a diagnostic modality for atypical Alzheimer's disease mimicking corticobasal degeneration. Psychogeriatrics (2016 Jan 18. doi: 10.1111/psyg.12184. [Epub ahead of print])
  • Okada Y, Murata M, Toda T. Effects of Levodopa on Vowel Articulation in Patients with Parkinson's Disease. Kobe J Med Sci 61:E144-154, 2016.
  • Yokota I, Kuga A, Uenishi K, Ishihara H, Kageyama Y, Fujino M, Nagao M, Kanda F, Toda T. Bone metabolism in epilepsy patients: An analysis of 30 cases taking classic anti-epileptic drugs. Neurol Clin Neurosci 4: 62–69, 2016.
  • Okuda S, Takano S, Ueno M, Hara Y, Chida Y, Ikkaku T, Kanda F, Toda T. Gait analysis of patients with Parkinson's disease using a portable triaxial accelerometer. Neurol Clin Neurosci 4: 93-97, 2016.
  • Tachibana H, Washida K, Kowa H, Kanda F, Toda T. Vascular function in Alzheimer's disease and vascular dementia. Am J Alzheimers Dis Other Demen 31: 437-442, 2016.
  • Washida K, Kowa H, Tsuji Y, Sekiguchi K, Kanda F, Toda T. Multiple Deep White Matter Hyperintense Lesions on Diffusion-Weighted Imaging: Early Sign of Straight Sinus Thrombosis. J Stroke Cerebrovasc Dis 25:e131-133, 2016.
  • Kuwabara N, Manya H, Yamada T, Tateno H, Kanagawa M, Kobayashi K, Akasaka-Manya K, Hirose Y, Mizuno M, Ikeguchi M, Toda T, Hirabayashi J, Senda T, Endo T, Kato R. Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of α-dystroglycan. Proc Natl Acad Sci U S A. 113:9280-9285, 2016.
  • Taniguchi-Ikeda M, Morioka I, Iijima K, Toda T. Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review. Mol Aspects Med 51: 115-124, 2016.
  • Manya H, Yamaguchi Y, Kanagawa M, Kobayashi K, Tajiri M, Akasaka-Manya K, Kawakami H, Mizuno M, Wada Y, Toda T, Endo T. The Muscular Dystrophy Gene TMEM5 Encodes a Ribitol β1,4-Xylosyltransferase Required for the Functional Glycosylation of Dystroglycan. J Biol Chem 291:24618-24627, 2016.
  • Sekiguchi K, Yasui N, Kowa H, Kanda F, Toda T. Two Cases of Acute Disseminated Encephalomyelitis Following Vaccination Against Human Papilloma Virus. Intern Med 55: 3181-3184, 2016.
  • Wang L, Heckman MG, Aasly JO, Annesi G, Bozi M, Chung SJ, Clarke C, Crosiers D, Eckstein G, Garraux G, Hadjigeorgiou GM, Hattori N, Jeon B, Kim YJ, Kubo M, Lesage S, Lin JJ, Lynch T, Lichtner P, Mellick GD, Mok V, Morrison KE, Quattrone A, Satake W, Silburn PA, Stefanis L, Stockton JD, Tan EK, Toda T, Brice A, Van Broeckhoven C, Uitti RJ, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM, Gasser T, Krüger R, Farrer MJ, Ross OA, Sharma M, GEOPD Consortium. Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: analysis of a large multicenter study. Neurobiol Aging 49: 217.e1-217.e4, 2016.
  • 2015年

    • Matsuo H, Tomiyama H, Satake W, Chiba T, Onoue H, Kawamura Y, Nakayama A, ShimizuS, Sakiyama M, Funayama M, Nishioka K, Shimizu T, Kaida K, Kamakura K, Toda T, Hattori N, ShinomiyaN. ABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout. Ann Clin Transl Neurol 2: 302–306, 2015.
    • Ohtsuka Y, Kanagawa M, Yu CC, Ito C, Chiyo T, Kobayashi K, Okada T, Takeda S’I, Toda T. Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression. Sci Rep 5:8316, 2015
    • Funayama M, Ohe K, Amo T, Furuya N, Yamaguchi J, Saiki S, Yuanzhe L, Ogaki K, Ando M, Yoshinon H, Tomiyama H, Nishioka K, Hasegawa K, Saiki H, Satake W, Mogushi K, Sasaki R, Kokubo Y, Kuzuhara S, Toda T, Mizuno Y, Uchiyama Y, Ohno K, Hattori N. CHCHD2 mutations in autosomal dominant late-onset Parkinson’s disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14:274-282, 2015.
    • Mitsui J, Matsukawa T, Sasaki H, Yabe I, Matsushima M, Dürr A, Brice A, Takashima H, Kikuchi A, Aoki M, Ishiura H, Yasuda T, Date H, Ahsan B, Iwata A, Goto J, Ichikawa Y, Nakahara Y, Momose Y, Takahashi Y, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Watanabe H, Ito M, Sobue G, Ishikawa K, Mizusawa H, Kanai K, Hattori T, Kuwabara S, Arai K, Koyano S, Kuroiwa Y, Hasegawa K, Yuasa T, Yasui K, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Kusunoki S, Osaki Y, Horiuchi M, Kondo T, Murayama S, Hattori N, Yamamoto M, Murata M, Satake W, Toda T, Filla A, Klockgether T, Wüllner U, Nicholson G, Gilman S, Tanner CM, Kukull WA, Stern MB, Lee VM, Trojanowski JQ, Masliah E, Low PA, Sandroni P, Ozelius LJ, Foroud T, Tsuji S. Variants associated with Gaucher disease in multiple system atrophy. Ann Clin Transl Neurol 2:417-426, 2015.
    • Yang H, Kobayashi K, Wang S, Jiao H, Xiao J, Toda T, Wu X, Xiong H. Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients. Brain Dev. pii: S0387-7604(15) 00035-2, 2015.
    • Higashi M, Hirano K, Kobayashi K, Ikeda Y, Issiki A, Otsuka T, Suzuki A, Yamaguchi S, Zaima N, Hamada S, Hanada H, Suzuki C, Nakamura H, Nagasaka H, Miyata T, Miyamoto Y, Kobayashi K, Naito H, Toda T. Distinct Cardiac Phenotype between Two Homozygotes Born in a Village with Accumulation of a Genetic Deficiency of Adipose Triglyceride Lipase. Int J Cardiol192:30-32, 2015
    • Oda T, Xiong H, Kobayashi K, Wang S, Satake W, Jiao H, Yang Y, Cha PC, Hayashi Y.K., Nishino I, Suzuki Y, Sugano S, Wu X, Toda T. A de novo mutation of the MYH7 gene in a large Chinese family with autosomal dominant myopathy. Hum Genome Var 2, Article number: 15022 (2015)
    • Shigemizu D, Aiba T, Nakagawa H, Ozaki K, Miya F, Satake W, Toda T, Miyamoto Y, Fujimoto A, Suzuki Y, Kubo M, Tsunoda T, Shimizu W, and Tanaka T. Exome analyses of long QT syndrome reveal candidate pathogenic mutations in calmodulin-interacting gene. PLoS One 10:e0130329, 2015.
    • 2014年

      • Hirano K, Tanaka T, Ikeda Y, Yamaguchi S, Zaima N, Kobayashi K, Suzuki A, Sakata Y, Sakata Y, Kobayashi K, Toda T, Fukushima N, Ishibashi-Ueda H, Tavian D, Nagasaka H, Hui SP, Chiba H, Sawa Y, Hori M. Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy. Biochem Biophys Res Commun. 443:574-579, 2014.
      • Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destée A, Ferrarese C, Ferraris A, Fiske B, Gispert S, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lin CH, Lohmann K, Loriot MA, Lynch T, Mellick GD, Mutez E, Opala G, Park SS, Petrucci S, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Tomiyama H, Uitti RJ, Valente EM, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Xiromerisiou G, Maraganore DM, Farrer MJ, Ross OA; Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium. The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants. Neurobiol Aging. 35:266.e5-14, 2014.
      • Katanosaka Y, Iwasaki K, Ujihara Y, Takatsu S, Nishitsuji K, Kanagawa M, Sudo A, Toda T, Katanosaka K, Mohri S, Naruse K. TRPV2 is critical for the maintenance of cardiac structure and function in mice. Nat Comm 5:3932, 2014.
      • Suzuki A, Nagasaka H, Ochi Y, Kobayashi K, Nakamura H, Nakatani D, Yamaguchi S, Yamaki S, Wada A, Shirata Y, Hui SP, Toda T, Kuroda H, Chiba H, Hirano K. Peripheral leukocytes’ anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy. MGM report 1: 249–253, 2014.
      • Hirano K, Nagasaka H, Kobayashi K, Yamaguchi S, Suzuki A, Toda T, Doyu M. Disease-associated marked hyperalphalipoproteinemia. Mol Genet Metab Rep 1: 264–268, 2014.
      • Shirafuji T, Ueyama T, Yoshino K, Takahashi H, Adachi N, Ago Y, Koda K, Nashida T, Hiramatsu N, Matsuda T, Toda T, Sakai N, Saito N. The role of Pak-interacting exchange factor-β phosphorylation at serines 340 and 583 by PKCγ in dopamine release. J Neurosci 34:9268-9280, 2014.
      • Washida K, IharaM, Tachibana H, Sekiguchi K, Kowa H, Kanda F, Toda T. Association of the ASCO classification with the executive function subscores of the Montreal Cognitive Assessment in patients with post-ischemic stroke. J Stroke Cerebrovasc Dis pii: S1052-3057(14)00195-5, 2014.
      • Saito F, Kanagawa M, Ikeda M, Hagiwara H, Masaki T, Ohkuma H, Katanosaka Y, Shimizu T, Sonoo M, Toda T, Matsumura K. Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice. Hum Mol Genet 23:4543-4558, 2014.
      • Kanagawa M, Lu Z, Ito C, Matsuda C, Miyake K, Toda T. Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for fukuyama congenital muscular dystrophy. Plos ONE 9:e106721, 2014.
      • Nagata E, Kano H, Kato F, Yamaguchi R, Nakashima S, Takayama S, Kosaki R, Tonoki H, Mizuno S, Watanabe S, Yoshiura KI, Kosho T, Hasegawa T, Kimizuka M, Suzuki A, Shimizu K, Ohashi H, Haga N, Numabe H, Horii E, Nagai T, Yoshihashi H, Nishimura G, Toda T, Takada S, Yokoyama S, Asahara H, Sano S, Fukami M, Ikegawa S, Ogata T. Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex. Orphanet J Rare Dis 9:125, 2014

      ページのトップへ

      2013年

      • Ando J, Fujisawa KK, Shikishima C, Hiraishi K, Nozaki M, Yamagata S, Takahashi Y, Ozaki K, Suzuki K, Deno M, Sasaki S, Toda T, Kobayashi K, Sugimoto Y, Okada M, Kijima N, Ono Y, Yoshimura K, Kakihana S, Maekawa H, Kamakura T, Nonaka K, Kato N, Ooki S. Two cohort and three independent anonymous twin projects at the Keio Twin Research Center (KoTReC). Twin Res Hum Genet 16:202-216, 2013.
      • Kondo T, Asai M, Tsukita K, Kutoku Y, Ohsawa Y, Sunada Y, Imamura K, Egawa N, Yahata N, Okita K, Takahashi K, Asaka I, Aoi T, Watanabe A, Watanabe K, Kadoya C, Nakano R, Watanabe D, Maruyama K, Hori O, Hibino S, Choshi T, Nakahata T, Hioki H, Kaneko T, Naitoh M, Yoshikawa K, Yamawaki S, Suzuki S, Hata R, Ueno S, Seki T, Kobayashi K, Toda T, Murakami K, Irie K, Klein WL, Mori H, Asada T, Takahashi R, Iwata N, Yamanaka S, Inoue H. Modeling Alzheimer's Disease with iPSCs Reveals Stress Phenotypes Associated with Intracellular Aβ and Differential Drug Responsiveness. Cell Stem Cell 2(4):487-496, 2013.
      • Uenaka K, Kowa H, Sekiguchi K, Nagata K, Ohtsuka Y, Kanda F, Toda T. Myositis with antimitochondrial antibodies diagnosed by musculus rectus abdominis biopsy. Muscle Nerve 47:766-768, 2013
      • Ueda T, Seki T, Katanazaka K, Sekiguchi K, Kobayashi K, Kanda F, Toda T. A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14. J Neurol 260:1664-1666, 2013.
      • Popiel HA, Takeuchi T, Burke JR, Strittmatter WJ, Toda T, Wada K, Nagai Y. Inhibition of protein misfolding/aggregation using polyglutamine binding peptide QBP1 as a therapy for the polyglutamine diseases. Neurotherapeutics 10:440-446, 2013.
      • Kanagawa M, Yu CC, Ito C, Fukada SI, Hozoji-Inada M, Chiyo T, Kuga A, Matsuo M, Sato K, Yamaguchi M, Ito T, Ohtsuka Y, Katanosaka Y, Miyagoe-Suzuki Y, Naruse K, Kobayashi K, Okada T, Takeda S, Toda T. Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression. Hum Mol Genet 22:3003-3015, 2013.
      • Mizuta I, Takafuji K, Ando Y, Satake W, Kanagawa M, Kobayashi K, Nagamori S, Shinohara T, Ito C, Yamamoto M, Hattori N, Murata M, Kanai Y, Murayama S, Nakagawa M, Toda T. YY1 binds to α-synuclein 3'-flanking region SNP and stimulates antisense noncoding RNA expression.J Hum Genet 58:711-719, 2013.
      • Ogawa M, Nakamura N, Nakayama Y, Kurosaka A, Manya H, Kanagawa M, Endo T, Furukawa K, Okajima T. GTDC2 modifies O-mannosylated α-dystroglycan in the endoplasmic reticulum to generate N-acetyl glucosamine epitopes reactive with CTD110.6 antibody. Biochem Biophys Res Commun 440:88-93, 2013.
      • Mitsui J, Matsukawa T, Ishiura H, Fukuda Y, Ichikawa Y, Date H, Ahsan B, Nakahara Y, Momose Y, Takahashi Y, Iwata A, Goto J, Yamamoto Y, Komata M, Shirahige K, Hara K, Kakita A, Yamada M, Takahashi H, Onodera O, Nishizawa M, Takashima H, Kuwano R, Watanabe H, Ito M, Sobue G, Soma H, Yabe I, Sasaki H, Aoki M, Ishikawa K, Mizusawa H, Kanai K, Hattori T, Kuwabara S, Arai K, Koyano S, Kuroiwa Y, Hasegawa K, Yuasa T, Yasui K, Nakashima K, Ito H, Izumi Y, Kaji R, Kato T, Kusunoki S, Osaki Y, Horiuchi M, Kondo T, Murayama S, Hattori N, Yamamoto M, Murata M, Satake W, Toda T, Dürr A, Brice A, Filla A, Klockgether T, Wüllner U, Nicholson G, Gilman S, Shults CW, Tanner CM, Kukull WA, Lee VM, Masliah E, Low PA, Sandroni P, Trojanowski JQ, Ozelius L, Foroud T, Tsuji S. Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J Med 369:233-244, 2013.
      • Yasui N, Takaoka Y, Nishio H, Nurputra DK, Sekiguchi K, Hamaguchi H, Kowa H, Maeda E, Sugano A, Miura K, Sakaeda T, Kanda F, Toda T. Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis. J Hum Genet 58:611-617, 2013.
      • Yagi H, Nakagawa N, Saito T, Kiyonari H, Abe T, Toda T, Wu SW, Khoo KH, Oka S, Kato K. AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan. Sci Rep 2013 Nov 21; 3:3288.
      • Saida K, Inaba Y, Hirano M, Satake W, Toda T, Suzuki Y, Sudo A, Noda S, Hidaka Y, Hirabayashi K, Imai H, Kurokawa T, Koike K. A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child. Brain Dev 2013 Nov 26. pii: S0387-7604(13)00303-3.
      • Chihara N, Aranami T, Oki S, Matsuoka T, Nakamura M, Kishida H, Yokoyama K, Kuroiwa Y, Hattori N, Okamoto T, Murata M, Toda T, Miyake S, Yamamura T. Plasmablasts as migratory IgG-producing cells in the pathogenesis of neuromyelitis optica PLoS One 8:e83036, 2013.
      • Jiao H, Manya H, Wang S, Zhang Y, Li X, Xiao J, Yang Y, Kobayashi K, Toda T, Endo T, Wu X, Xiong H. Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients. Mol Genet Genomics 288:297-308, 2013.

      ページのトップへ

      2012年

      • Ueda T, Kanda F, Aoyama N, Fujii M, Nishigori C, Toda T. Neuroimaging features of xeroderma pigmentosum group A. Brain Behav 2:1-5, 2012.
      • Tachikawa M, Kanagawa M, Yu CC, Kobayashi K, Toda T. Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration. J Biol Chem 287:8398-8406, 2012
      • Kuga A, Kanagawa M, Sudo A, Chan YM, Tajiri M, Manya H, Kikkawa Y, Nomizu M, Kobayashi K, Endo T, Lu QL, Wada Y, Toda T. Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing a non-laminin binding form of alpha-dystroglycan. J Biol Chem 287: 9560-9567, 2012
      • Lill CM, Roehr JT, McQueen MB, Kavvoura FK, Bagade S, Schjeide BM, Schjeide LM, Meissner E, Zauft U, Allen NC, Liu T, Schilling M, Anderson KJ, Beecham G, Berg D, Biernacka JM, Brice A, Destefano AL, Do CB, Eriksson N, Factor SA, Farrer MJ, Foroud T, Gasser T, Hamza T, Hardy JA, Heutink P, Hill-Burns EM, Klein C, Latourelle JC, Maraganore DM, Martin ER, Martinez M, Myers RH, Nalls MA, Pankratz N, Payami H, Satake W, Scott WK, Sharma M, Singleton AB, Stefansson K, Toda T, Tung JY, Vance J, Wood NW, Zabetian CP; 23andMe, The Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium; The International Parkinson's Disease Genomics Consortium (IPDGC); The Parkinson's Disease GWAS Consortium; The Wellcome Trust Case Control Consortium 2 (WTCCC2), Young P, Tanzi RE, Khoury MJ, Zipp F, Lehrach H, Ioannidis JP, Bertram L. Comprehensive Research Synopsis and Systematic Meta-Analyses in Parkinson's Disease Genetics: The PDGene Database. PLoS Genet 8:e1002548, 2012.
      • Sharma M, Ioannidis JPA, Aasly JO, Brice A, Van Broeckhoven C, Annesi G, Bertram L, Bozi M, Crosiers D, Clarke C, Facheris MF, Farrer M, Gispert S, Auburger G, Vilarino-Guell , Garraux G, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon BS, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Mok VCT, Jasinska-Myga B, Mellick GD, Morrison KE, Opala GM, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva EA, Ross OA, Stefanis L, Stockton J, Satake W, Silburn P, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek ZK, Xiromerisiou G, Yueh KC, ZHAO YI, Gasser T, Maraganore DM, Krüger R. Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology 79:659-667, 2012.
      • Shirafuji T, Kanda F, Sekiguchi K, Higuchi M, Kodama Y, Yokosaki H, Tanaka K, Takahashi H, Toda T. A case of anti-Hu-associated paraneoplastic encephalomyelitis with esophageal small cell carcinoma. Int Med 51: 2423-2427, 2012.
      • Tsutsumi M, Kowa-Sugiyama H, Bolor H, Kogo H, Inagaki H, Ohye T, Yamada K, Taniguchi-Ikeda M, Toda T, Kurahashi H. Screening of genes involved in chromosome segregation during meiosis I: in vitro gene transfer to mouse fetal oocytes. J Hum Genet 57: 515-522, 2012.
      • Nakagawa N, Manya H, Toda T, Endo T, Oka S. Human natural killer-1 sulfotransferase (HNK-1ST)-induced sulfate-transfer regulates laminin-binding glycans on α-dystroglycan. J Biol Chem 287:30823-30832, 2012.
      • Yu CC, Furukawa M, Kobayashi K, Shikishima C, Cha PC, Sese J, Sugawara H, Iwamoto K, Kato T, Ando J, Toda T. Genome-Wide DNA Methylation and Gene Expression Analyses of Monozygotic Twins Discordant for Intelligence Levels. PLoS ONE 7:e47081, 2012.
      • Lynch TA, Lam le T, Man Nt, Kobayashi K, Toda T, Morris GE. Detection of the dystroglycanopathy protein, fukutin, using a new panel of site-specific monoclonal antibodies. Biochem Biophys Res Commun 424:354-357, 2012
      • Chen K, Chen YP, Song W, Huang R, Zhao B, Cao B, Yang Y, Satake W, Toda T, Shang HF. Association analysis of LRP8 SNP rs3820198 and rs5174 with Parkinson's disease in Han Chinese population. Neurol Res 34:725-729, 2012.
      • Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Bertram L, Bozi M, Barcikowska M, Crosiers D, Clarke CE, Facheris MF, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon BS, Jamrozik Z, Krygowska-Wajs A, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Libioulle C, Murata M, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Meitnger T, Zimprich A, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Strom TM, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Van Broeckhoven C, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yomono HS, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R; GEOPD consortium. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet 49:721-726, 2012.
      • Popiel HA, Takeuchi T, Fujita H, Yamamoto K, Ito C, Yamane H, Muramatsu S, Toda T, Wada K, Nagai Y. Hsp40 gene therapy exerts therapeutic effects on polyglutamine disease mice via a non-cell autonomous mechanism. PLoS One 7:e51069, 2012.

      ページのトップへ

      2011年

      • Taniguchi-Ikeda M, Kobayashi K, Kanagawa M, Yu CC, Mori K, Oda T, Kuga A, Kurahashi H, Akman HO, DiMauro S, Kaji R, Yokota T, Takeda S, Toda T. Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature 478:127-131, 2011
      • Cha PC, Takanashi A, Hosono N, Low SK, Kamatani N, Kubo M, Nakamura Y. A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. Nature Genet 43:447-450, 2011
      • Kuga A, Ohsawa Y, Okada T, Kanda F, Kanagawa M, Toda T, Sunada Y. Endoplasmic reticulum stress response in P104L mutant caveolin-3 transgenic mice. Hum Mol Genet 20:2975-2983, 2011
      • Popiel HA, Burke JR, Strittmatter WJ, Oishi S, Fujii N, Toda T, Wada K, and Nagai Y. The Aggregation Inhibitor Peptide QBP1 as a Therapeutic Molecule for the Polyglutamine Neurodegenerative Diseases. J Amino Acids2011:265084, 2011.
      • Sharma M, Maraganore DM, Ioannidis JP, Riess O, Aasly JO, Annesi G, Abahuni N, Bentivoglio AR, Brice A, Van Broeckhoven C, Chartier-Harlin MC, Destée A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Gispert S, Hattori N, Jasinska-Myga B, Klein C, Lesage S, Lynch T, Lichtner P, Lambert JC, Lang AE, Mellick GD, De Nigris F, Opala G, Quattrone A, Riva C, Rogaeva E, Ross OA, Satake W, Silburn PA, Theuns J, Toda T, Tomiyama H, Uitti RJ, Wirdefeldt K, Wszolek Z, Gasser T, Krüger R; Genetic Epidemiology of Parkinson's Disease Consortium. Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease. Neurobiol Aging 32:2108.e1-5, 2011
      • Kojima K, Nosaka H, Kishimoto Y, Nishiyama Y, Fukuda S, Shimada M, Kodaka K, Saito F, Matsumura K, Shimizu T, Toda T, Takeda S, Kawachi H, Uchida S. Defective glycosylation of α-dystroglycan contributes to podocyte flattening. Kidney Int 79:311-316, 2011
      • Kruger R, Sharma M, Riess O, Gasser T, Van Broeckhoven C, Theuns J, Aasly J, Annesi G, Bentivoglio AR, Brice A, Djarmati A, Elbaz A, Farrer M, Ferrarese C, Gibson JM, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Klein C, Lambert JC, Lesage S, Lin JJ, Lynch T, Mellick GD, de Nigris F, Opala G, Prigione A, Quattrone A, Ross OA, Satake W, Silburn PA, Tan EK, Toda T, Tomiyama H, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Maraganore DM; for the Genetic Epidemiology of Parkinson's disease consortium. A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease. Neurobiol Aging 32:548.e9-548.e18, 2011
      • Chihara N, Aranami T, Sato W, Miyazaki Y, Miyake S, Okamoto T, Ogawa M, Toda T, Yamamura T. Interleukin 6 signaling promotes anti-aquaporin 4 autoantibody production from plasmablasts in neuromyelitis optica. Proc Natl Acad Sci USA 108:3701-3706, 2011
      • Sun H, Satake W, Zhang C, Nagai Y, Tian Y, Fu S, Yu J, Qian Y, Qian Y, Chu J, Toda T. Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family. J Hum Genet 56:330-334, 2011
      • Hara Y, Kanagawa M, Kunz S, Yoshida-Moriguchi T, Satz JS, Kobayashi YM, Zhu Z, Burden SJ, Oldstone MB, Campbell KP. Like-acetylglucosaminyltransferase (LARGE)-dependent modification of dystroglycan at Thr-317/319 is required for laminin binding and arenavirus infection. Proc Natl Acad Sci USA 108:17426-17431, 2011
      • Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltran-Valero de Bernabe D, Gundesli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MB, Accardi A, Talim B, Muntoni F, Topaloglu H, Dincer P, Campbell KP. A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med 364:939-946, 2011

      ページのトップへ

      2010年

      • Kanagawa M, Omori Y, Sato S, Kobayashi K, Miyagoe-Suzuki Y, Takeda S, Endo T, Furukawa T, Toda T. Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization. J Biol Chem 285:31208-31216, 2010
      • Tan EK, Kwok HH, Tan LC, Zhao WT, Prakash KM, Au WL, Pavanni R, Ng YY, Satake W, Zhao Y, Toda T, Liu JJ. Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus. Neurology 75:508-512, 2010
      • Velayos-Baeza A, Levecque C, Kobayashi K, Holloway ZG, Monaco AP. The dyslexia-associated KIAA0319 protein undergoes proteolytic processing with γ-secretase-independent intramembrane cleavage. J Biol Chem 285:40148-40162, 2010
      • Lu Z, Kanagawa M, Toda T. Residual glycosylation of dystroglycan in model mice to Fukuyama-type congenital muscular dystrophy is sufficient to maintain voluntary exercise activity and skeletal muscle regeneration capability. Med J Osaka Univ 53:51-61, 2010
      • Kogo H, Kowa-Sugiyama H, Yamada K, Bolor H, Tsutsumi M, Ohye T, Inagaki H, Taniguchi M, Toda T, Kurahashi H. Screening of genes involved in chromosome segregation during meiosis I: toward the identification of genes responsible for infertility in humans. J Hum Genet 55:293-299, 2010

      ページのトップへ

      2009年

      • Satake W, Nakabayashi Y, Mizuta I, Hirota Y, Ito C, Kubo M, Kawaguchi T, Tsunoda T, Watanabe M, Takeda A, Tomiyama H, Nakashima K, Hasegawa K, Obata F, Yoshikawa T, Kawakami H, Sakoda S, Yamamoto M, Hattori N, Murata M, Nakamura Y, Toda T. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nature Genet 41:1303-1307, 2009
      • Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Durr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 361:1651-1661, 2009
      • Han R, Kanagawa M, Yoshida-Moriguchi T, Rader EP, Ng RA, Michele DE, Muirhead DE, Kunz S, Moore SA, Iannaccone ST, Miyake K, McNeil PL, Mayer U, Oldstone MBA, Faulkner JA, Campbell KP. Basal lamina strengthens cell membrane integrity via the laminin G domain binding motif of α-dystroglycan. Proc Natl Acad Sci USA 106:12573-02579, 2009
      • Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H. Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet 85:544-557, 2009
      • Xiong H, Wang S, Kobayashi K, Jiang Y, Wang J, Chang X, Yuan Y, Liu J, Toda T, Fukuyama Y, Wu X. Fukutin gene retrotransposal insertion in a non-Japanese Fukuyama congenital muscular dystrophy (FCMD) patient. Am J Med Genet A 149A:2403-2408, 2009
      • Kanagawa M, Nishimoto A, Chiyonobu T, Takeda S, Miyagoe-Suzuki Y, Wang F, Fujikake N, Taniguchi M, Lu Z, Tachikawa M, Nagai Y, Tashiro F, Miyazaki J, Tajima Y, Takeda S, Endo T, Kobayashi K, Campbell KP, Toda T. Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy. Hum Mol Genet 18:621-631, 2009
      • Sousa I, Clark TG, Toma C, Kobayashi K, Choma M, Holt R, Sykes NH, Lamb JA, Bailey AJ, Battaglia A, Maestrini E, Monaco AP; International Molecular Genetic Study of Autism Consortium (IMGSAC). MET and autism susceptibility: family and case-control studies.
        Eur J Hum Genet 17:749-758, 2009
      • Saitsu H, Kurosawa K, Kawara H, Eguchi M, Mizuguchi T, Harada N, Kaname T, Kano H, Miyake N, Toda T, Matsumoto N. Characterization of the complex 7q21.3 rearrangement in a patient with bilateral split-foot malformation and hearing loss. Am J Med Genet A 149A:1224-1230, 2009
      • Mitsui J, Mizuta I, Toyoda A, Ashida R, Takahashi Y, Goto J, Fukuda Y, Date H, Iwata A, Yamamoto M, Hattori N, Murata M, Toda T, Tsuji S. Mutations for Gaucher disease confer a high susceptibility to Parkinson disease. Arch Neurol 66:571-576, 2009
      • Shikishima C, Hiraishi K, Yamagata S, Sugimoto Y, Takemura R, Ozaki K, Okada M, Toda T, Ando J. Is g an entity? A Japanese twin study using syllogisms and intelligence tests. Intelligence 37:256-267, 2009
      • Hamanoue H, Megarbane A, Tohma T, Nishimura A, Mizuguchi T, Saitsu H, Sakai H, Miura S, Toda T, Miyake N, Niikawa N, Yoshiura K, Hirahara F, Matsumoto N. A locus for ophthalmo-acromelic syndrome mapped to 10p11.23. Am J Med Genet A 149A:336-342, 2009
      • Popiel HA, Nagai Y, Fujikake N, Toda T. Delivery of the aggregate inhibitor peptide QBP1 into the mouse brain using PTDs and its therapeutic effect on polyglutamine disease mice. Neurosci Lett 449:87-92, 2009
      • Okamoto Y, Nagai Y, Fujikake N, Popiel HA, Yoshioka T, Toda T, Inui T. Surface plasmon resonance characterization of specific binding of polyglutamine aggregation inhibitors to the expanded polyglutamine stretch. Biochem Biophys Res Commun 378:634-639, 2009
      • Tomita K, Popiel HA, Nagai Y, Toda T, Yoshimitsu Y, Ohno H, Oishi S, Fujii N. Structure-activity relationship study on polyglutamine binding peptide QBP1. Bioorg Med Chem 17:1259-1263, 2009
      • Sato N, Amino T, Kobayashi K, Asakawa S, Ishiguro T, Tsunemi T, Takahashi M, Matsuura T, Flanigan KM, Iwasaki S, Ishino F, Saito Y, Murayama S, Yoshida M, Hashizume Y, Takahashi Y, Tsuji S, Shimizu N, Toda T, Ishikawa K, Mizusawa H. Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n. Am J Hum Genet 85: 544-557, 2009

      ページのトップへ

      2008年

      • Yoshioka M, Higuchi Y, Fujii T, Aiba H, Toda T. Seizure-genotype relationship in Fukuyama-type congenital muscular dystrophy. Brain Dev 30:59-67, 2008
      • Kumazawa R, Tomiyama H, Li Y, Imamichi Y, Funayama M, Yoshino H, Yokochi F, Fukusako T, Takehisa Y, Kashihara K, Kondo T, Elibol B, Bostantjopoulou S, Toda T, Takahashi H, Yoshii F, Mizuno Y, Hattori N. Mutation analysis of the PINK1 gene in 391 patients with Parkinson's disease. Arch Neurol 65:802-808, 2008
      • Mizuta I, Tsunoda T, Satake W, Nakabayashi Y, Watanabe M, Takeda A, Hasegawa K, Nakashima K, Yamamoto M, Hattori N, Murata M, Toda T. Calbindin 1, fibroblast growth factor 20, and a-synuclein in Parkinson's disease. Hum Genet 124:89-94, 2008
      • Kanagawa M, Toda T. Fukutin and Fukuyama congenital muscular dystrophy. Glycoscience Lab Manual pp309-312, 2008
      • Sato S, Omori Y, Katoh K, Kondo M, Kanagawa M, Miyata K, Funabiki K, Koyasu T, Kajimura N, Miyoshi T, Sawai H, Kobayashi K, Tani A, Toda T, Usukura J, Tano Y, Fujikado T, Furukawa T. Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation. Nature Neurosci 11:923-931, 2008
      • Fujikake N, Nagai Y, Popiel HA, Okamoto Y, Yamaguchi M, Toda T. Heat shock transcription factor 1 (HSF1)-activating compounds suppress polyglutamine-induced neurodegeneration through induction of multiple molecular chaperones. J Biol Chem 283:26188-26197, 2008
      • Wakayama Y, Inoue M, Kojima H, Yamashita S, Shibuya S, Jimi T, Hara H, Matsuzaki Y, Oniki H, Kanagawa M, Kobayashi K, Toda T. Reduced expression of sarcospan in muscles of Fukuyama congenital muscular dystrophy. Histol Histopathol 23:1425-1438, 2008

      ページのトップへ

      2007年

      • Popiel HA, Nagai Y, Fujikake N, Toda T. Protein transduction domain-mediated delivery of QBP1 suppresses polyglutamine-induced neurodegeneration in vivo. Mol Ther 15:303-309, 2007
      • Funayama M, Li Y, Tomiyama H, Yoshino H, Imamichi Y, Yamamoto M, Murata M, Toda T, Mizuno Y, Hattori N. Leucine-Rich Repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population. Neuroreport 18:273-275, 2007
      • Nagai Y, Inui T, Popiel HA, Fujikake N, Hasegawa K, Urade Y, Goto Y, Naiki H, Toda T. A toxic monomeric conformer of the polyglutamine protein. Nature Struct Mol Biol 14:332-340, 2007
      • Satake W, Mizuta I, Suzuki S, Nakabayashi Y, Ito C, Watanabe M, Takeda A, Hasegawa K, Sakoda S, Yamamoto M, Hattori N, Murata M, Toda T. Fibroblast growth factor 20 gene and Parkinson's disease in the Japanese population. Neuroreport 18:937-940, 2007
      • Saito F, Masaki T, Saito Y, Nakamura A, Takeda S, Shimizu T, Toda T, Matsumura K. Defective peripheral nerve myelination and neuromuscular junction formation in fukutin-deficient chimeric mouse. J Neurochem 101:1712-1722, 2007
      • Chiyonobu T, Hayashi S, Kobayashi K, Morimoto M, Miyanomae Y, Nishimura A, Nishimoto A, Ito C, Imoto I, Sugimoto T, Jia Z, Inazawa J, Toda T. Partial tandem duplication of GRIA3 in a male with mental retardation. Am J Med Genet A 143A:1448-1455, 2007
      • Amino T, Ishikawa K, Toru S, Ishiguro T, Sato N, Tsunemi T, Murata M, Kobayashi K, Inazawa J, Toda T, Mizusawa H. Redefining the disease locus of 16q22.1-linked autosomal dominant cerebellar ataxia. J Hum Genet 52:643-649, 2007
      • Takahashi Y, Okamoto Y, Popiel HA, Fujikake N, Toda T, Kinjo M, Nagai Y. Detection of polyglutamine protein oligomers in cells by fluorescence correlation spectroscopy. J Biol Chem 282:24039-24048, 2007
      • Kano H, Kurahashi H, Toda T. Genetically regulated epigenetic transcriptional activation of retrotransposon insertion confers mouse dactylaplasia phenotype. Proc Natl Acad Sci USA 104:19034-19039, 2007
      • Autism Genome Project Consortium (Kobayashi K). Mapping autism risk loci using genetic linkage and chromosomal rearrangements. Nature Genet 39:319-328, 2007
      • Kiyonaka S, Wakamori M, Miki T, Uriu Y, Nonaka M, Bito H, Beedle AM, Mori E, Hara Y, De Waard M, Kanagawa M, Itakura M, Takahashi M, Campbell KP, Mori Y. RIM1 confers sustained activity and neurotransmitter vesicle anchoring to presynaptic Ca2+ channels. Nature Neurosci 10:691-701, 2007

      ページのトップへ

      2006年

      • Kariya S, Hirano M, Uesato S, Nagai Y, Nagaoka Y, Furiya Y, Asai H, Fujikake N, Toda T, Ueno S. Cytoprotective effect of novel histone deacetylase inhibitors against polyglutamine toxicity. Neurosci Lett 392:213-215, 2006
      • Nishioka K, Hayashi S, Farrer MJ, Singleton AB, Yoshino H, Imai H, Kitami T, Sato K, Kuroda R, Tomiyama H, Mizoguchi K, Murata M, Toda T, Imoto I, Inazawa J, Mizuno Y, Hattori N. Clinical heterogeneity of α-synuclein gene duplication in Parkinson's disease. Ann Neurol 59:298-309, 2006
      • Mizuta I, Satake W, Nakabayashi Y, Ito C, Suzuki S, Momose Y, Nagai Y, Oka A, Inoko H, Fukae J, Saito Y, Sawabe M, Murayama S, Yamamoto M, Hattori N, Murata M, Toda T. Multiple candidate gene analysis identifies α-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum Mol Genet 15:1151-1158, 2006
      • Taniguchi M, Kurahashi H, Noguchi S, Sese J, Okinaga T, Tsukahara T, Guicheney P, Ozono K, Nishino I, Morishita S, Toda T. Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-a2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease? Biochem Biophys Res Commun 342:489-502, 2006
      • Taniguchi M, Kurahashi H, Noguchi S, Fukudome T, Okinaga T, Tsukahara T, Tajima Y, Ozono K, Nishino I, Nonaka I, Toda T. Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in α-dystroglycanopathies. Hum Mol Genet 15:1279-1289, 2006
      • Hino-Fukuyo N, Haginoya K, Hayashi YK, Nishino I, Murakami T, Nonaka I, Togashi K, Tanaka S, Takayanagi M, Yokoyama H, Sakamoto O, Abe T, Toda T, Iinuma K. A case of Fukuyama-type congenital muscular dystrophy with a very mild mental deficit. Neuromuscul Disord 16:274-276, 2006
      • Tomiyama H, Li Y, Funayama M, Hasegawa K, Yoshino H, Kubo S, Sato K, Hattori T, Lu CS, Inzelberg R, Djaldetti R, Melamed E, Amouri R, Gouider-Khouja N, Hentati F, Hatano Y, Wang M, Imamichi Y, Mizoguchi K, Miyajima H, Obata F, Toda T, Farrer MJ, Mizuno Y, Hattori N. Clinicogenetic study of mutations in LRRK2 exon 41 in Parkinson's disease patients from 18 countries. Mov Disord 21:1102-1108, 2006
      • Mori T, Kurahashi H, Shinka T, Nakahori Y, Taniguchi M, Toda T, Iwamoto T. Candidate genes for male factor infertility-validation. Fertil Steril 86:1553-1554, 2006
      • Kanagawa M, Toda T. The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis. J Hum Genet 51:915-927, 2006
      • Xiong H, Kobayashi K, Tachikawa M, Manya H, Takeda S, Chiyonobu T, Fujikake N, Wang F, Nishimoto A, Morris GE, Nagai Y, Kanagawa M, Endo T, Toda T. Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of α-dystroglycan. Biochem Biophys Res Commun 350:935-941, 2006

      ページのトップへ

      2005年

      • Kariya S, Hirano M, Nagai Y, Furiya Y, Fujikake N, Toda T, Ueno S. Humanin attenuates apoptosis induced by DRPLA proteins with expanded polyglutamine stretches. J Mol Neurosci 25:165-170, 2005
      • Kurahashi H, Taniguchi M, Meno C, Taniguchi Y, Takeda S, Horie M, Otani H, Toda T. Basement membrane fragility underlies embryonic lethality in fukutin-null mice. Neurobiol Dis 19:208-217, 2005
      • Chiyonobu T, Sasaki J, Nagai Y, Takeda S, Funakoshi H, Nakamura T, Sugimoto T, Toda T. Effects of fukutin deficiency in the developing mouse brain. Neuromuscul Disord 15:416-426, 2005
      • Li Y, Tomiyama H, Sato K, Hatano Y, Yoshino H, Atsumi M, Kitaguchi M, Sasaki S, Kawaguchi S, Miyajima H, Toda T, Mizuno Y, Hattori N. Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism. Neurology 64:1955-1957, 2005
      • Sasaki N, Manya H, Okubo R, Kobayashi K, Ishida H, Toda T, Endo T, Nishihara S. β4GalT-II is a key regulator of glycosylation of the proteins involved in neuronal development. Biochem Biophys Res Commun 333:131-137, 2005
      • Fujikake N, Nagai Y, Popiel HA, Kano H, Yamaguchi M, Toda T. Alternative splicing regulates the transcriptional activity of Drosophila heat shock transcription factor in response to heat/cold stress. FEBS Lett 579:3842-3848, 2005
      • Ishikawa K, Toru S, Tsunemi T, Li M, Kobayashi K, Yokota T, Amino T, Owada K, Fujigasaki H, Sakamoto M, Tomimitsu H, Takashima M, Kumagai J, Noguchi Y, Kawashima Y, Ohkoshi N, Ishida G, Gomyoda M, Yoshida M, Hashizume Y, Saito Y, Murayama S, Yamanouchi H, Mizutani T, Kondo I, Toda T, Mizusawa H. An autosomal dominant cerebellar ataxia linked to chomosome 16q22.1 is associated with a single-nucleotide substitution in the 5' untranslated region of the gene encoding a novel protein with spectrin repeat and Rho guanine-nucleotide exchange-factor domains. Am J Hum Genet 77:280-296, 2005
      • Watanabe M, Kobayashi K, Jin F, Park KS, Yamada T, Tokunaga K, Toda T. Founder SVA retrotransposal insertion in Fukuyama-type congenital muscular dystrophy and its origin in Japanese and Northeast Asian populations. Am J Med Genet A 138A:344-348, 2005
      • Kano H, Kurosawa K, Horii E, Ikegawa S, Yoshikawa H, Kurahashi H, Toda T. Genomic rearrangement at 10q24 in non-syndromic split-hand/split-foot malformation. Hum Genet 118:477-483, 2005
      • Saito Y, Motoyoshi Y, Kashima K, Izumiyama-Shimomura N, Toda T, Nakano I, Hasegawa M, Murayama S. Unique tauopathy in Fukuyama-type congenital muscular dystrophy. J Neuropath Exp Neurol 64:1118-1126, 2005
      • Toda T, Chiyonobu T, Xiong H, Tachikawa M, Kobayashi K, Manya H, Takeda S, Taniguchi M, Kurahashi H, EndoT. Fukutin and α-dystroglycanopahties. Acta Myologica 24:60-63, 2005

      ページのトップへ

      2004年

      • Maraganore DM, Lesnick TG, Elbaz A, Chartier-Harlin M-C, Gasser T, Kruger R, Hattori N, Mellick GD, Quattrone A, Satoh J, Toda T, Wang J, Ioannidis JPA, de Andrade M, Rocca WA, the UCHL1 Global Genetics Consortium. UCHL1 is a Parkinson's disease susceptibility gene. Ann Neurol 55:512-521, 2004
      • Popiel HA, Nagai Y, Onodera O, Inui T, Fujikake N, Urade Y, Strittmatter WJ, Burke JR, Ichikawa A, Toda T. Disruption of the toxic conformation of the expanded polyglutamine stretch leads to suppression of aggregate formation and cytotoxicity. Biochem Biophys Res Commun 317:1200-1206, 2004
      • Akasaka-Manya K, Manya H, Kobayashi K, Toda T, Endo T. Structure-function analysis of human protein O-linked mannose β 1,2-N-acetylglucosaminyltransferase 1, POMGnT1. Biochem Biophys Res Commun 320:39-44, 2004
      • Longman C, Mercuri E, Cowan F, Allsop J, Brockington M, Jimenez-Mallebrera C, Kumar S, Rutherford M, Toda T, Muntoni F. Antenatal and postnatal brain magnetic resonance imaging in muscle-eye-brain disease. Arch Neurol 61:1301-1306, 2004
      • Kurahashi H, Inagaki H, Yamada K, Ohye T, Taniguchi M, Emanuel BS, Toda T. Cruciform DNA structure underlies the etiology for palindrome-mediated human chromosomal translocations. J Biol Chem 279:35377-35383, 2004
      • Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, Yoshino H, Asahina M, Kobayashi S, Hassin-Baer S, Lu CS, Ng AR, Rosales RL, Shimizu N, Toda T, Mizuno Y, Hattori N. Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol 56:424-427, 2004
      • Ohtake H, Limprasert P, Fan Y, Onodera O, Kakita A, Takahashi H, Bonner LT, Tsuang DW, Murray IV, Lee VM, Trojanowski JQ, Ishikawa A, Idezuka J, Murata M, Toda T, Bird TD, Leverenz JB, Tsuji S, La Spada AR. β-Synuclein gene alterations in dementia with Lewy bodies. Neurology 63:805-811, 2004
      • Hatano Y, Sato K, Eibol B, Yoshino H, Yamamura Y, Bonifati V, Shinotoh H, Asahina M, Kobayashi S, Ng AR, Rosales RL, Hassin-Baer S, Shinar Y, Lu CS, Chang HC, Wu-Chou YH, Atac FB, Kobayashi T, Toda T, Mizuno Y, Hattori N. PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations. Neurology 63:1482-1485, 2004
      • Kanagawa M, Saito F, Kunz S, Yoshida-Moriguchi T, Barresi R, Kobayashi YM, Muschler J, Dumanski JP, Michele DE, Oldstone MB, Campbell KP. Molecular recognition by LARGE is essential for expression of functional dystroglycan. Cell 117:953-964, 2004
      • Barresi R, Michele DE, Kanagawa M, Harper HA, Dovico SA, Satz JS, Moore SA, Zhang W, Schachter H, Dumanski JP, Cohn RD, Nishino I, Campbell KP. LARGE can functionally bypass α-dystroglycan glycosylation defects in distinct congenital muscular dystrophies. Nature Med 10:696-703, 2004

      ページのトップへ

      2003年

      • Taniguchi K, Kobayashi K, Saito K, Yamanouchi H, Ohnuma A, Hayashi YK, Manya H, Jin DK, Lee M, Parano E, Falsaperla R, Pavone P, van Coster R, Talim B, Steinbrecher A, Straub V, Nishino I, Topaloglu H, Voit T, Endo T, Toda T. Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Hum Mol Genet 12:527-534, 2003
      • Horie M, Kobayashi K (eaqually contributed), Takeda S, Nakamura Y, Lyons GE, Toda T. Isolation and characterization of the murine orthologue of the Fukuyama-type congenital muscular dystrophy gene, fukutin. Genomics 80:482-486, 2003
      • Silan F, Yoshioka M, Kobayashi K, Simsek E, Tunc M, Alper M, Cam M, Guven A, Fukuda Y, Kinoshita M, Kocabay K, Toda T. The first case with Fukuyama-type congenital muscular dystrophy in non-Japanese population carrying a novel fukutin mutation and Walker-Warburg syndrome-like phenotype. Ann Neurol 53:392-396, 2003
      • Kurahashi H, Shaikh T, Takata M, Toda T, Emanuel BS. The constitutional t(17;22): another translocation mediated by palindromic AT-rich repeats. Am J Hum Genet 72:733-738, 2003
      • Noguchi S, Tsukahara T, Fujita M, Kurokawa R, Tachikawa M, Toda T, Tsujimoto A, Arahata K, Nishino I. cDNA microarray analysis of individual Duchenne muscular dystrophy patients. Hum Mol Genet 12:595-600, 2003
      • Li M, Ishikawa K, Toru S, Tomomotsu H, Takashima M, Goto J, Takiyama Y, Sasaki H, Imoto I, Inazawa J, Toda T, Kanazawa I, Mizusawa H. Physical map and haplotype analysis of 16q-linked autosomal dominant ataxia (ADCA) type III in Japan. J Hum Genet 48:111-118, 2003
      • Nagai Y, Fujikake N, Ohno K, Higashiyama H, Popiel HA, Rahadian J, Inui T, Urade Y, Yamaguchi M, Strittmatter WJ, Burke JR, Toda T. Rescue of polyglutamine-induced neurological phenotypes by the peptide inhibitor QBP1 in drosophila disease models. Hum Mol Genet 12:1253-1259, 2003
      • Takeda S, Kondo M, Sasaki J, Kurahashi H, Kano H, Arai K, Misaki K, Fukui T, Kobayashi K, Tachikawa M, Imamura M, Nakamura Y, Shimizu T, Murakami T, Sunada Y, Fujikado T, Matsumura K, Terashima T, Toda T. Fukutin is required for maintenance of muscle integrity, cortical histiogenesis, and normal eye development. Hum Mol Genet 12:1449-1459, 2003
      • Manya H, Sakai K, Kobayashi K, Taniguchi K, Kawakita M, Toda T, Endo E. Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease. Biochem Biophys Res Commun 306:93-97, 2003
      • Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K. Fukuyama-type congenital muscular dystrophy (FCMD) and α-dystroglycanopathy. Congenit Anom 43:97-104, 2003
      • Toda T, Momose Y, Murata M, Tamiya G, Yamamoto M, Hattori N, Inoko H. Toward identification of susceptibility genes for sporadic Parkinson's disease. J Neurol 250(suppl 3):40-43, 2003
      • Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K. Fukuyama-type congenital muscular dystrophy and abnormal glycosylation of α-dystroglycan. Basic Appl Myol 13:287-292, 2003
      • Zhang W, Vajsar J, Cao P, Breningstall G, Diesen C, Dobyns W, Herrmann R, Lehesjoki A-E, Steinbrecher A, Talim B, Toda T, Topaloglu H, Voit T, Schachter H. Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents. Clin Biochem 36:339-344, 2003

      ページのトップへ

      2002年

      • Yoshioka M, Kuroki S, Sasaki H, Baba K, Toda T. A variant of congenital muscular dystrophy. Brain Dev 24:24-29, 2002
      • Momose Y, Murata M, Kobayashi K, Tachikawa M, Nakabayashi Y, Kanazawa I, Toda T. Association studies of multiple candidate genes for Parkinson's disease using single nucleotide polymorphisms. Ann Neurol 51:133-136, 2002
      • Chiyonobu T, Yoshihara T, Fukushima Y, Yamamoto Y, Tsunamoto K, Nishimura Y, Ishida H, Toda T, Kasabuchi Y. Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. Am J Med Genet 109:61-66, 2002
      • Kano H, Kobayashi K, Herrmann R, Tachikawa M, Manya H, Nishino I, Nonaka I, Straub V, Talim B, Voit T, Topaloglu H, Endo T, Yoshikawa H, Toda T. Deficiency of α-dystroglycan in muscle-eye-brain disease. Biochem Biophys Res Commun 291:1283-1286, 2002
      • Zanoteli E, Rocha JCC, Narumia LK, Fireman MAT, Moura LS, Oliveira ASB, Gabbai AA, Fukuda Y, Kinoshita M, Toda T. Fukuyama-type congenital muscular dystrophy: a case report in the Japanese population living in Brazil. Acta Neurol Scand 109:117-121, 2002
      • Tachikawa M, Nagai Y, Nakamura K, Kobayashi K, Fujiwara T, Han H-J, Nakabayashi Y, Ichikawa Y, Goto J, Kanazawa I, Nakamura Y, Toda T. Identification of CAG repeat-containing genes expressed in human brain as candidate genes for autosomal dominant spinocerebellar ataxias and other neurodegenerative diseases. J Hum Genet 47:275-278, 2002
      • Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I, Kelley RI, Somer H, Straub V, Mathews KD, Moore SA, Campbell KP. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418:417-422, 2002

      ページのトップへ

      2001年

      • Kobayashi K, Sasaki J (eaqually contributed), Kondo-Iida E, Fukuda Y, Kinoshita M, Sunada Y, Nakamura Y, Toda T. Structural organization, complete genomic sequences, and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. FEBS Lett 489:192-196, 2001
      • Togo M, Toda T, Nguyen LA, Kubota S, Tsukamoto K, Satoh H, Hara M, Iso-o N, Noto H, Kimura S, Nakahara K, Seyama Y, Hashimoto Y. Genetic analysis of phytosterolaemia. J Inherit Metab Dis 24:43-50, 2001
      • Tran TD, Kroepfl T, Saito M, Nagura M, Ichiseki H, Kubota M, Toda T, Sakakihara Y. The gene copy ratios of SMN1/SMN2 in Japanese carriers with type I spinal muscular atrophy. Brain Dev 23:321-326, 2001
      • Toda T, Sasaki J, Tachikawa M, Kano H, Kobayashi K. Molecular genetics of Fukuyama CMD and fukutin. Acta Myologica 20:92-95, 2001
      • Yoshida A, Kobayashi K (eaqually contributed), Manya H, Taniguchi K, Kano H, Mizuno M, Inazu T, Mitsuhashi H, Takahashi S, Takeuchi M, Herrmann R, Straub V, Talim B, Voit T, Topaloglu H, Toda T (equally contributed), Endo T. Muscular dystrophy and neuronal migration disorder caused by mutations in a novel glycosyltransferase, POMGnT1. Dev Cell 1:717-724, 2001

      ページのトップへ

      2000年以前

      • Colombo R, Bignamini AA, Carobene A, Sasaki J, Tachikawa M, Kobayashi K, Toda T. Age and origin of the FCMD 3'-untranslated-region retrotransposal insertion mutation causing Fukuyama-type congenital muscular dystrophy in Japanese population. Hum Genet 107:559-567, 2000
      • Sasaki J, Ishikawa K, Kobayashi K, Kondo-Iida E, Fukayama M, Mizusawa H, Takashima S, Sakakihara Y, Nakamura Y, Toda T. Neuronal expression of the fukutin gene. Hum Mol Genet 9:3083-3090, 2000
      • Asano Y, Minagawa K, Okuda A, Matsui T, Ando K, Kondo-Iida E, Kobayashi O, Toda T, Nonaka I, Tanizawa T. A case of Walker-Warburg syndrome. Brain Dev 22:454-457, 2000
      • Villanova M, Mercuri E, Bertini E, Sabatelli P, Morandi L, Mora M, Sewry C, Brockington M, Brown SC, Ferreiro A, Maraldi NM, Toda T, Guicheney P, Merlini L, Muntoni F. Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome. Neuromuscul Disord 10:541-547, 2000
      • Chadani Y, Kondoh T, Kamimura N, Matsumoto T, Matsuzaka T, Kobayashi O, Kondo-Iida E, Kobayashi K, Nonaka I, Toda T. Walker-Warburg syndrome is genetically distinct from Fukuyama type congenital muscular dystrophy. J Neurol Sci 177:150-153, 2000
      • Saito K, Osawa M, Wang Z-P, Ikeya K, Fukuyama Y, Kondo-Iida E, Toda T, Ohashi H, Kurosawa K, Wakai S, Kaneko K. Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. Am J Med Genet 92:184-190, 2000
      • Toda T, Kobayashi K, Nonaka I. Congenital muscular dystrophies with special reference to the Fukuyama type. Neurosci News 3:39-45, 2000
      • Toda T, Kobayashi K, Kondo-Iida E, Sasaki J, Nakamura Y. The Fukuyama congenital muscular dystrophy story. Neuromuscul Disord 10:153-159, 2000
      • Jong YJ, Kobayashi K, Toda T, Kondo-Iida E, Huang SC, Shen YZ, Nonaka I, Fukuyama Y. Genetic heterogeneity in three Chinese children with Fukuyama congenital muscular dystrophy. Neuromuscul Disord 10:108-112, 2000
      • Futaki M, Yamashita T, Yagasaki H, Toda T, Yabe M, Kato S, Asano S, Nakahata T. The IVS4+4 A to T mutation of the Fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients. Blood 95:1493-1498, 2000
      • Toda T, Kobayashi K. Fukuyama-type congenital muscular dystrophy: the first human disease to be caused by an ancient retrotransposal integration. J Mol Med 77:816-823, 1999
      • Yoshioka M, Toda T, Kuroki S, Hamano K. Broader clinical spectrum of Fukuyama-type congenital muscular dystrophy manifested by haplotype analysis. J Child Neurol 14:711-715, 1999
      • Kondo-Iida E, Kobayashi K, Watanabe M, Sasaki J, Kumagai T, Koide H, Saito K, Osawa M, Nakamura Y, Toda T. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet 8:2303-2309, 1999
      • Kuroki Y, Iwamoto T, Lee J, Yoshiike M, Nozawa S, Nishida T, Ewis AA, Nakamura H, Toda T, Tokunaga K, Kotliarova SE, Kondoh N, Koh E, Namiki M, Shinka T, Nakahori Y. Spermatogenic ability is different among males in different Y chromosome lineage. J Hum Genet 44:289-292, 1999
      • Belpaire-Dethiou M-Cl, Saito K, Fukuyama Y, Kondo-Iida E, Toda T, Duprez Th, Verellen-Dumoulin C, Van den Bergh PYK. Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient. Neuromuscul Disord 9:251-256, 1999
      • Shinka T, Tomita K, Toda T, Kotliarova SE, Lee J, Kuroki Y, Jin DK, Tokunaga K, Nakamura H, Nakahori Y. Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage. J Hum Genet 44:240-245, 1999
      • Voit T, Cohn RD, Sperner J, Leube B, Sorokin L, Toda T, Herrmann R. Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardation. Neuromuscul Disord 9:95-101, 1999
      • Kotliarova ES, Toda T, Takenaka O, Matsushita I, Hida A, Shinka T, Goto J, Tokunaga K, Nakagome Y, Nakahori Y. Novel (CA)n marker DXYS241 on the nonrecombinant part of the human Y chromosome. Hum Biol 71:261-275, 1999
      • Watanabe M, Sugimura Y, Yoshida H, Toda T. Simple and inexpensive recovery of DNA fragments from agarose and polyacrylamide gels using a cotton-wool column tube. Showa Univ J Med Sci 10:141-148, 1998
      • Yoshioka M, Toda T, Kuroki S. Broader clinical spectrum of Fukuyama congenital muscular dystrophy manifested by haplotype analysis. In Perat MV (ed) New Developments in Child Neurology. Monduzzi Editore, Bologna, pp317-320, 1998
      • Kobayashi K, Nakahori Y, Mizuno K, Miyake M, Kumagai T, Honma A, Nonaka I, Nakamura Y, Tokunaga K, Toda T. Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD). Hum Genet 103:323-327, 1998
      • Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo-Iida E, Nomura Y, Segawa M, Yoshioka M, Saito K, Osawa M, Hamano K, Sakakihara Y, Nonaka I, Nakagome Y, Kanazawa I, Nakamura Y, Tokunaga K, Toda T. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature 394:388-392, 1998
      • Saito K, Kondo-Iida E, Kawakita Y, Juan D, Ikeya K, Osawa M, Fukuyama Y, Toda T, Nakabayashi M, Yamamoto T, Kobayashi M. Prenatal diagnosis of Fukuyama type congenital muscular dystrophy in eight Japanese families by haplotype analysis using new markers closest to the gene. Am J Med Genet 77:310-316, 1998
      • Takai Y, Tsutsumi O, Harada I, Fujii T, Kashima T, Kobayashi K, Toda T, Taketani Y. Prenatal diagnosis of Fukuyama-type congenital muscular dystrophy by microsatellite analysis. Hum Reprod 13:320-323, 1998
      • Kondo E, Saito K, Toda T, Osawa M, Tanaka H, Tsuji S, Yamamoto T, Kobayashi M, Nakamura Y, Fukuyama Y. Reconfirmation of the Fukuyama congenital muscular dystrophy (FCMD) gene locus at chromosome 9q31, and a successful prenatal diagnosis of FCMD in two families. In Fukuyama Y, Osawa M, Saito K (eds) Congenital Muscular Dystrophies. Elsevier, Amsterdam, pp309-319, 1997
      • Yoshioka M, Toda T, Kuroki S. The clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy. In Fukuyama Y, Osawa M, Saito K (eds) Congenital Muscular Dystrophies. Elsevier, Amsterdam, pp105-117, 1997
      • Toda T, Miyake M, Nakahori Y, Segawa M, Nomura Y, Nonaka I, Ikegawa S, Kondo E, Saito K, Osawa M, Fukuyama Y, Yoshioka M, Shimizu T, Kanazawa I, Nakamura Y, Nakagome Y. Toward identification of the Fukuyama type congenital muscular dystrophy (FCMD) gene. In Fukuyama Y, Osawa M, Saito K (eds) Congenital Muscular Dystrophies. Elsevier, Amsterdam, pp301-308, 1997
      • Kotliarova SE, Matsushita I, Shinka T, Hida A, Toda T, Tokunaga K, Nakagome Y, Nakahori Y. Novel polymorphic CA repeat on the Yp11 with non-random allele distribution on sex chromosomes is a useful marker for forensic analysis. In Advances in Research on DNA Polymorphisms. Toyoshoten, Tokyo, pp108-112, 1997
      • Kondo-Iida E, Saito K, Tanaka H, Tsuji S, Ishihara T, Osawa M, Fukuyama Y, Toda T. Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy. Hum Genet 99:427-432, 1997
      • Kondo-Iida E, Saito K, Osawa M, Ishihara T, Toda T, Fukuyama Y. Polymorphism analysis of Fukuyama type congenital muscular dystrophy (FCMD) siblings with different phenotypes. Brain Dev 19:181-186, 1997
      • Miyake M, Nakahori Y, Matsushita I, Kobayashi K, Mizuno K, Hirai M, Kanazawa I, Nakagome Y, Tokunaga K, Toda T. YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31. Genomics 40:284-293, 1997
      • Kotliarova SE, Toda T, Matsushita I, Nakagome Y, Nakahori Y. A novel (CA)n polymorphism in 6p21.1-21.2. Jpn J Hum Genet 41:423-425, 1996
      • Kondo E, Saito K, Toda T, Osawa M, Yamamoto T, Kobayashi M, Fukuyama Y. Prenatal diagnosis of Fukuyama type congenital muscular dystrophy by polymorphism analysis. Am J Med Genet 66:169-174, 1996
      • Toda T, Miyake M, Kobayashi K, Mizuno K, Saito K, Osawa M, Nakamura Y, Kanazawa I, Nakagome Y, Tokunaga K, Nakahori Y. Linkage-disequilibrium mapping narrows the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region to <100 kb. Am J Hum Genet 59:1313-1320, 1996
      • Yamamoto T, Komori T, Shibata N, Kobayashi M, Kondo E, Saito K, Osawa M, Toda T. Fukuyama congenital muscular dystrophy: Cortical dysplasia of the cerebrum in a 20 week fetus. Neuropathology 16:184-189, 1996
      • Ikegawa S, Toda T, Okui K, Nakamura Y. Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrilin. Genomics 35:590-592, 1996
      • Nakahori Y, Kuroki Y, Komaki R, Kondoh N, Namiki M, Iwamoto T, Toda T, Kobayashi K. The Y chromosome region essential for spermatogenesis. Hormone Res 46(suppl 1):20-23, 1996
      • Nakano I, Funahashi M, Takada K, Toda T. Are breaches in the glia limitans the primary cause of the micropolygyria in Fukuyama-type congenital muscular dystrophy (FCMD)? - Pathological study of the cerebral cortex of an FCMD fetus. Acta Neuropathol 91:313-321, 1996
      • Toda T, Ikegawa S, Miyake M, Nakahori Y, Nakamura Y. Dinucleotide repeat polymorphism on chromosome 9q32. Jpn J Hum Genet 40:333-334, 1995
      • Toda T, Watanabe T, Matsumura K, Sunada Y, Yamada H, Nakano I, Mannen T, Kanazawa I, Shimizu T. Three-dimenssional MR imaging of brain surface anomalies in Fukuyama-type congenital muscular dystrophy. Muscle Nerve 18:508-517, 1995
      • Toda T, Segawa M, Nomura Y, Nonaka I, Saito K, Fukuyama Y, Shimizu T, Kanazawa I, Nakamura Y. Localization of a gene responsible for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Muscle Nerve 18:463-466, 1995
      • Toda T, Yoshioka M, Nakahori Y, Kanazawa I, Nakamura Y, Nakagome Y. Genetic identity of Fukuyama type congenital muscular dystrophy and Walker-Warburg syndrome. Ann Neurol 37:99-101, 1995
      • Nakahori Y, Kobayashi K, Komaki R, Matsushita I, Nakagome Y. A locus of the candidate gene family for azoospermia factor (YRRM2) is polymorphic with a null allele in Japanese males. Hum Mol Genet 3:1709, 1994
      • Kobayashi K, Mizuno K, Hida A, Komaki R, Tomita K, Matsushita I, Namiki M, Iwamoto T, Tamura S, Minowada S, Nakahori Y, Nakagome Y. PCR analysis of the Y chromosome long arm in azoospermic patients: evidence for a second locus required for spermatogenesis. Hum Mol Genet 3:1965-1967, 1994
      • Toda T, Ikegawa S, Okui K, Kondo E, Saito K, Fukuyama Y, Yoshioka M, Kumagai T, Suzumori K, Kanazawa I, Nakamura Y. Refined mapping of a gene responsible for Fukuyama type congenital muscular dystrophy; evidence for strong linkage disequilibrium. Am J Hum Genet 55:946-950, 1994
      • Toda T, Iida A, Miwa T, Nakamura Y, Imai T. Isolation and characterization of a novel gene encoding nuclear protein at a locus (D11S636) tightly linked to multiple endocrine neoplasia type 1 (MEN1) Hum Mol Genet 3:465-470, 1994
      • Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Ohno K, Misugi N, Sasaki Y, Takada K, Kawai M, Otani K, Murakami T, Saito K, Fukuyama Y, Shimizu T, Kanazawa I, Nakamura Y. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nature Genet 5:283-286, 1993
      • Watanabe M, Kondo I, Nissato S, Wakisaka A, Toda T, Ikeda J, Wasmuth JJ, Gusella JF, Kanazawa I. A linkage study with DNA markers (D4S95, D4S115, and D4S111) in Japanese Huntington disease families. Jpn J Hum Genet 38:193-201, 1993
      • Matsumura K, Toda T, Hasegawa T, Kamei M, Imoto N, Shimizu T. A Japanese family with two types of muscular dystrophy: DNA analysis and the dystrophin test. J Child Neurol 6:251-256, 1991
      • Toda T, Matsumura K. Facial spasm from lacunar infarction of the thalamic ventrolateral nucleus. Stroke 20:1289-1290, 1989