Personal genome analysis of genes for Parkinson's disease and cognitive function

• Project Area: Personal genome-based initiatives toward understanding bran diseases
• Project/Area Number: 22129006
• Research Category: Grant-in-Aid for Scientific Research on Innovative Areas (Research in a proposed research area)
• Allocation Type: Single-year Grants
• Review Section: Biological Sciences
• Research Institution: Kobe University
• Principal Investigator: TODA Tatsushi 神戸大学, 医学研究科, 教授 (30262025)
• Co-Investigator(Kenkyū-buntansha): KOBAYASHI Kazuhiro 神戸大学, 大学院医学研究科, 准教授 (90324780)
• Co-Investigator(Renkei-kenkyūsha): SATAKE Wataru 神戸大学, 大学院医学研究科, 助教 (50467594)
• Project Period (FY): 2010-04-01 – 2015-03-31
• Project Status: Completed (Fiscal Year 2014)
• Budget Amount: ¥187,070,000 (Direct Cost: ¥143,900,000、Indirect Cost: ¥43,170,000); Fiscal Year 2014: ¥34,320,000 (Direct Cost: ¥26,400,000、Indirect Cost: ¥7,920,000); Fiscal Year 2013: ¥36,140,000 (Direct Cost: ¥27,800,000、Indirect Cost: ¥8,340,000); Fiscal Year 2012: ¥38,090,000 (Direct Cost: ¥29,300,000、Indirect Cost: ¥8,790,000); Fiscal Year 2011: ¥37,700,000 (Direct Cost: ¥29,000,000、Indirect Cost: ¥8,700,000); Fiscal Year 2010: ¥40,820,000 (Direct Cost: ¥31,400,000、Indirect Cost: ¥9,420,000)
• Keywords: パーソナルゲノム / パーキンソン病 / 認知機能 / 多型 / 次世代シーケンサー / 次世代シークエンサー

Outline of Final Research Achievements

We conducted personal genome analyses with our main focus on Parkinson’s disease and human cognitive function.
To detect rare but strong risk factors for Parkinson’s disease, we performed whole-exome sequencing and case-control association studies, and detected in LRRK 2 region 2 SNVs that cause amino acid substitution, which is a moderate risk factor for the disease. We also conducted genome-wide DNA methylation and gene expression analyses using 34 samples from 17 pairs of monozygotic twins discordant intelligently, and detected the differences among the twins with higher IQ and lower IQ in the expressions of several mitochondrial ribosomal protein-coding genes, DNA helicase-related genes, and ion channel-related genes.
Also, the exome analysis we performed on a large Chinese family with autosomal dominant myopathy detected a 3-bp in-frame deletion in the MYH7 gene and diagnosed the disease as Laing distal myopathy, which is the first LDM case in East Asia.

Research Products

• [Journal Article] ABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout. (2015)
  • Author(s): 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.
  • Journal Title: Ann Clin Transl Neurol Volume: 2 Issue: 3 Pages: 302-306
  • DOI: 10.1002/acn3.167
  • Peer Reviewed / Open Access
• [Journal Article] Fukutin is prerequisite to ameliorate muscular dystrophic phenotype by myofiber-selective LARGE expression. (2015)
  • Author(s): Ohtsuka Y, Kanagawa M, Yu CC, Ito C, Chiyo T, Kobayashi K, Okada T, Takeda S’I, Toda T.
  • Journal Title: Sci Rep Volume: 5 Issue: 1 Pages: 8316-8316
  • DOI: 10.1038/srep08316
  • NAID: 120005600773
  • Peer Reviewed / Open Access
• [Journal Article] CHCHD2 mutations in autosomal dominant late-onset Parkinson’s disease: a genome-wide linkage and sequencing study. (2015)
  • Author(s): 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.
  • Journal Title: Lancet Neurol Volume: 14 Issue: 3 Pages: 274-282
  • DOI: 10.1016/s1474-4422(14)70266-2
  • Peer Reviewed / Open Access
• [Journal Article] TRPV2 is critical for the maintenance of cardiac structure and function in mice. (2014)
  • Author(s): Katanosaka Y, Iwasaki K, Ujihara Y, Takatsu S, Nishitsuji K, Kanagawa M, Sudo A, Toda T, Katanosaka K, Mohri S, Naruse K.
  • Journal Title: Nat Comm Volume: 5 Issue: 1 Pages: 3932-3932
  • DOI: 10.1038/ncomms4932
  • NAID: 120005690060
  • Peer Reviewed / Open Access
• [Journal Article] Peripheral leukocyte anomaly detected with routine automated hematology analyzer sensitive to adipose triglyceride lipase deficiency manifesting neutral lipid storage disease with myopathy/triglyceride deposit cardiomyovasculopathy. (2014)
  • Author(s): Suzuki A, Nagasaka H, Ochi Y, Kobayashi K, Nakamura H, Nakatani D, S Yamaguchi, Yamaki S, Wada A, Shirata Y, Hui SP, Toda T, Kuroda H, Chiba H, Hirano K.
  • Journal Title: Mol Genet Metab Rep Volume: 1 Pages: 249-253
  • DOI: 10.1016/j.ymgmr.2014.05.001
  • Peer Reviewed / Open Access
• [Journal Article] Disease-associated marked hyperalphalipoproteinemia. (2014)
  • Author(s): Hirano K, Nagasaka H, Kobayashi K, Yamaguchi S, Suzuki A, Toda T, Doyu M.
  • Journal Title: Mol Genet Metab Rep Volume: 1 Pages: 264-268
  • DOI: 10.1016/j.ymgmr.2014.06.001
  • Peer Reviewed / Open Access
• [Journal Article] The role of Pak-interacting exchange factor-β phosphorylation at serines 340 and 583 by PKCγ in dopamine release. (2014)
  • Author(s): 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.
  • Journal Title: J Neurosci Volume: 34 Issue: 28 Pages: 9268-9280
  • DOI: 10.1523/jneurosci.4278-13.2014
  • NAID: 120005619641
  • Peer Reviewed / Open Access
• [Journal Article] Association of the ASCO classification with the executive function subscores of the Montreal Cognitive Assessment in patients with post-ischemic stroke. (2014)
  • Author(s): Washida K, IharaM, Tachibana H, Sekiguchi K, Kowa H, Kanda F, Toda T.
  • Journal Title: J Stroke Cerebrovasc Dis Volume: 23 Issue: 9 Pages: 2250-2255
  • DOI: 10.1016/j.jstrokecerebrovasdis.2014.04.009
  • Peer Reviewed / Open Access
• [Journal Article] Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice (2014)
  • Author(s): Saito F, Kanagawa M, Ikeda M, Hagiwara H, Masaki T, Ohkuma H, Katanosaka Y, Shimizu T, Sonoo M, Toda T, Matsumura K.
  • Journal Title: Hum Mol Genet Volume: 23 Issue: 17 Pages: 4543
  • DOI: 10.1093/hmg/ddu168
  • URL: https://pure.teikyo.jp/en/publications/3a900055-4ad6-4411-946d-7f072c2d44ee
  • Peer Reviewed / Open Access
• [Journal Article] Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for fukuyama congenital muscular dystrophy. (2014)
  • Author(s): Kanagawa M, Lu Z, Ito C, Matsuda C, Miyake K, Toda T.
  • Journal Title: Plos ONE Volume: 9 Issue: 9 Pages: e106721-e106721
  • DOI: 10.1371/journal.pone.0106721
  • Peer Reviewed / Open Access
• [Journal Article] Japanese founder duplications/triplications involving BHLHA9 are associated with split-hand/foot malformation with or without long bone deficiency and Gollop-Wolfgang complex. (2014)
  • Author(s): 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, et al.
  • Journal Title: Orphanet J Rare Dis Volume: 9 Issue: 1 Pages: 125-125
  • DOI: 10.1186/s13023-014-0125-5
  • Peer Reviewed / Open Access
• [Journal Article] ゴーシェ病の多様性 (2014)
  • Author(s): 戸田達史
  • Journal Title: Medical Science Digest Volume: 40 Pages: 562-563
• [Journal Article] Genetic mutations in adipose triglyceride lipase and myocardial up-regulation of peroxisome proliferated activated receptor-γ in patients with triglyceride deposit cardiomyovasculopathy. (2014)
  • Author(s): 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.
  • Journal Title: Biochem Biophys Res Commun. Volume: 443 Issue: 2 Pages: 574-579
  • DOI: 10.1016/j.bbrc.2013.12.003
  • Peer Reviewed
• [Journal Article] The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants. (2014)
  • Author(s): Heckman MG, Elbaz A, Soto-Ortolaza AI, ..., Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium.
  • Journal Title: Neurobiol Aging Volume: 35 Issue: 1 Pages: 266.e5-266.e14
  • DOI: 10.1016/j.neurobiolaging.2013.07.013
  • Peer Reviewed
• [Journal Article] A case of Bardet-Biedl syndrome complicated with intracranial hypertension in a Japanese child. (2014)
  • Author(s): 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.
  • Journal Title: Brain Dev Volume: 印刷中 Issue: 8 Pages: 721-724
  • DOI: 10.1016/j.braindev.2013.10.013
  • Peer Reviewed / Open Access
• [Journal Article] A drug screening platform for Alzheimer's disease with intracellular Aβ oligomers using patient-specific iPSCs (2013)
  • Author(s): Kondo, T., (他24名), Murakami, K., Irie, K., Klein, W. L., Mori, H., Asada, T., Takahashi, R., Iwata, N., Yamanaka, S., Inoue, H
  • Journal Title: Cell Stem Cell Volume: 12 Issue: 4 Pages: 487-496
  • DOI: 10.1016/j.stem.2013.01.009
  • Peer Reviewed / Open Access
• [Journal Article] Myositis with antimitochondrial antibodies diagnosed by musculus rectus abdominis biopsy. (2013)
  • Author(s): Uenaka K, Kowa H, Sekiguchi K, Nagata K, Ohtsuka Y, Kanda F, Toda T.
  • Journal Title: Muscle Nerve Volume: 47 Issue: 5 Pages: 766-768
  • DOI: 10.1002/mus.23730
  • Peer Reviewed
• [Journal Article] A novel mutation in the C2 domain of protein kinase C gamma associated with spinocerebellar ataxia type 14. (2013)
  • Author(s): Ueda T, Seki T, Katanazaka K, Sekiguchi K, Kobayashi K, Kanda F, Toda T.
  • Journal Title: J Neurol Volume: 260 Issue: 6 Pages: 1664-1666
  • DOI: 10.1007/s00415-013-6916-0
  • Peer Reviewed
• [Journal Article] Inhibition of Protein Misfolding/Aggregation Using Polyglutamine Binding Peptide QBP1 as a Therapy for the Polyglutamine Diseases. (2013)
  • Author(s): H. Akiko Popiel
  • Journal Title: Neuro therapeutics Volume: (印刷中) Issue: 3 Pages: 440-446
  • DOI: 10.1007/s13311-013-0184-7
  • Peer Reviewed
• [Journal Article] Mutations in COQ2 in familial and sporadic multiple-system atrophy the multiple-system atrophy research collaboration (2013)
  • Author(s): Mitsui J, et. al.
  • Journal Title: N Engl J Med Volume: 369 Issue: 3 Pages: 233
  • DOI: 10.1056/nejmoa1212115
  • URL: https://localhost/en/publications/228d3923-3adb-4e39-bd77-14bb10709e09
  • Peer Reviewed
• [Journal Article] Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration. of its severe phenotype by limited gene expression. (2013)
  • Author(s): Kanagawa M, et. al.
  • Journal Title: Hum Mol Genet Volume: 22 Issue: 15 Pages: 3003-3015
  • DOI: 10.1093/hmg/ddt157
  • Peer Reviewed
• [Journal Article] Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients (2013)
  • Author(s): Jiao H, Manya H, Wang S, Zhang Y, Li X, Xiao J, Yang Y, Kobayashi K, Toda T, Endo T, Wu X, Xiong H.
  • Journal Title: Mol Genet Genomics Volume: 288 Issue: 7-8 Pages: 297-308
  • DOI: 10.1007/s00438-013-0749-5
  • Peer Reviewed
• [Journal Article] Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis. (2013)
  • Author(s): 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.
  • Journal Title: J Hum Genet Volume: 58 Issue: 9 Pages: 611-617
  • DOI: 10.1038/jhg.2013.68
  • NAID: 10031195298
  • Peer Reviewed
• [Journal Article] YY1 binds to α-synuclein 3'-flanking region SNP and stimulates antisense noncoding RNA expression. (2013)
  • Author(s): 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.
  • Journal Title: J Hum Genet Volume: 58 Issue: 11 Pages: 711-719
  • DOI: 10.1038/jhg.2013.90
  • Peer Reviewed
• [Journal Article] AGO61-dependent GlcNAc modification primes the formation of functional glycans on α-dystroglycan. (2013)
  • Author(s): Yagi H, Nakagawa N, Saito T, Kiyonari H, Abe T, Toda T, Wu SW, Khoo KH, Oka S, Kato K.
  • Journal Title: Sci Rep Volume: 3 Issue: 1 Pages: 3288-3288
  • DOI: 10.1038/srep03288
  • NAID: 120005353504
  • Peer Reviewed
• [Journal Article] Plasmablasts as migratory IgG-producing cells in the pathogenesis of neuromyelitis optica. (2013)
  • Author(s): 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.
  • Journal Title: PLoS One Volume: 8 Issue: 12 Pages: e83036-e83036
  • DOI: 10.1371/journal.pone.0083036
  • Peer Reviewed
• [Journal Article] 【遺伝子・再生医療研究から学ぶパーキンソン病】 PARK遺伝子研究の現状 【RAB7L1(PARK16)】 ゲノムワイド関連解析からの知見とさらなる孤発性パーキンソン病遺伝子の発見へ向けて PARK16、BST1、α-synuclein、LRRK2、Tau (2013)
  • Author(s): 佐竹 渉, 戸田 達史
  • Journal Title: 医学のあゆみ Volume: 247 Pages: 1075-1082
• [Journal Article] 【パーキンソン病診療の新しい展開】 パーキンソン病の臨床遺伝学 (2013)
  • Author(s): 戸田 達史
  • Journal Title: Mebio Volume: 30 Pages: 17-22
• [Journal Article] A case of juvenile parkinsonism with expanded SCA8 CTA/CTG repeats (2013)
  • Author(s): 宮脇 統子, 関口 兼司, 安井 直子, 上田 健博, 苅田 典生, 戸田 達史
  • Journal Title: Rinsho Shinkeigaku Volume: 53 Issue: 4 Pages: 278-282
  • DOI: 10.5692/clinicalneurol.53.278
  • NAID: 130004921088
  • ISSN: 0009-918X, 1882-0654
  • Peer Reviewed
• [Journal Article] 【神経・精神疾患診療マニュアル】 神経・精神疾患の動向 神経疾患と遺伝子 (2013)
  • Author(s): 佐竹 渉, 戸田 達史
  • Journal Title: 日本医師会雑誌 Volume: 142
• [Journal Article] Two cohort and three independent anonymous twin projects at the Keio Twin Research Center (KoTReC) (2013)
  • Author(s): Ando, J., Fujisawa, K. K., Shiki shima, 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.
  • Journal Title: Twin Research and Human Genetics Volume: 16 Issue: 1 Pages: 202
  • DOI: 10.1017/thg.2012.131
  • URL: https://localhost/en/publications/20821437-a45d-402c-9a69-0df7c01835cd
  • Peer Reviewed
• [Journal Article] 【次世代シーケンサーによる神経変性疾患の解析と展望】 パーソナルゲノム研究と神経疾患 overview (2013)
  • Author(s): 戸田 達史
  • Journal Title: BRAIN and NERVE: 神経研究の進歩 Volume: 65 Pages: 227-234
• [Journal Article] Detection of the dystroglycanopathy protein, fukutin, using a new panel of site-specific monoclonal antibodies. (2012)
  • Author(s): Lynch TA, Lam le T, Man Nt, Kobayashi K, Toda T, Morris GE.
  • Journal Title: Biochem Biophys Res Commun Volume: 424 Issue: 2 Pages: 354-357
  • DOI: 10.1016/j.bbrc.2012.06.147
  • Peer Reviewed
• [Journal Article] Large-scale replication and heterogeneity in Parkinson disease genetic loci. (2012)
  • Author(s): Sharma M, Ioannidis JPA, Aasly JO, Brice A, ..., Satake W, ..., Toda T,..., Kruger R.
  • Journal Title: Neurology Volume: 79 Issue: 7 Pages: 659-667
  • DOI: 10.1212/wnl.0b013e318264e353
  • Peer Reviewed
• [Journal Article] Screening of genes involved in chromosome segregation during meiosis I: in vitro gene transfer to mouse fetal oocytes. (2012)
  • Author(s): Tsutsumi M, Kowa-Sugiyama H, Bolor H, Kogo H, Inagaki H, Ohye T, Yamada K, Taniguchi-Ikeda M, Toda T, Kurahashi H.
  • Journal Title: J Hum Genet Volume: 57 Issue: 8 Pages: 515-522
  • DOI: 10.1038/jhg.2012.61
  • NAID: 10031056588
  • Peer Reviewed
• [Journal Article] Human natural killer-1 sulfotransferase (HNK-1ST)-induced sulfate-transfer regulates laminin-binding glycans on α-dystroglycan. (2012)
  • Author(s): Nakagawa N, Manya H, Toda T, Endo T, Oka S.
  • Journal Title: J Biol Chem Volume: 287 Issue: 36 Pages: 30823-30832
  • DOI: 10.1074/jbc.m112.363036
  • Peer Reviewed
• [Journal Article] Anti-Hu-associated Paraneoplastic Encephalomyelitis with Esophageal Small Cell Carcinoma (2012)
  • Author(s): Shirafuji T, Kanda F, Sekiguchi K, Higuchi M, Yokosaki H, Tanaka K, Takahashi H, Toda T.
  • Journal Title: Internal Medicine Volume: 51 Issue: 17 Pages: 2423-2427
  • DOI: 10.2169/internalmedicine.51.6884
  • NAID: 130002062329
  • ISSN: 0918-2918, 1349-7235
  • Peer Reviewed
• [Journal Article] Association analysis of LRP8 SNP rs3820198 and rs5174 with Parkinson's disease in Han Chinese population. (2012)
  • Author(s): Chen K, Chen YP, Song W, Huang R, Zhao B, Cao B, Yang Y, Satake W, Toda T, Shang HF.
  • Journal Title: Neurol Res Volume: 34 Issue: 7 Pages: 725-729
  • DOI: 10.1179/1743132812y.0000000075
  • Peer Reviewed
• [Journal Article] Genome-Wide DNA methylation and gene expression analyses of monozygotic twins discordant for intelligence levels. (2012)
  • Author(s): Yu CC
  • Journal Title: PLoS ONE Volume: 7 Issue: 10 Pages: e47081-e47081
  • DOI: 10.1371/journal.pone.0047081
  • Peer Reviewed
• [Journal Article] A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. (2012)
  • Author(s): Sharma M, Ioannidis JP, Aasly JO, ..., Satake W, ..., Toda T, ..., GEOPD consortium.
  • Journal Title: J Med Genet Volume: 49 Issue: 11 Pages: 721-726
  • DOI: 10.1136/jmedgenet-2012-101155
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• [Journal Article] Hsp40 Gene Therapy Exerts Therapeutic Effects on Polyglutamine Disease Micevia a Non-Cell Autonomous Mechanism. (2012)
  • Author(s): H. Akiko Popiel
  • Journal Title: PLoS One Volume: 7 Issue: 11 Pages: e51069-e51069
  • DOI: 10.1371/journal.pone.0051069
  • Peer Reviewed
• [Journal Article] 【神経変性疾患のゲノム・遺伝学研究】 孤発性パーキンソン病のリスク遺伝子 (2012)
  • Author(s): 佐竹 渉, 戸田 達史
  • Journal Title: Dementia Japan Volume: 26 Pages: 155-162
• [Journal Article] Neuroimaging features of xeroderma pigmentosum group A (2012)
  • Author(s): Ueda T
  • Journal Title: Brain Behav Volume: 2 Issue: 1 Pages: 1-5
  • DOI: 10.1002/brb3.22
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• [Journal Article] Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing a non-laminin binding form of α-dystroglycan (2012)
  • Author(s): Kuga A
  • Journal Title: J Biol Chem Volume: 287 Issue: 12 Pages: 9560-9567
  • DOI: 10.1074/jbc.m111.271767
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• [Journal Article] Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration (2012)
  • Author(s): Tachikawa M
  • Journal Title: J Biol Chem Volume: 287 Issue: 11 Pages: 8398-8406
  • DOI: 10.1074/jbc.m111.300905
  • Peer Reviewed
• [Journal Article] Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family (2011)
  • Author(s): Sun, H.
  • Journal Title: J Hum Genet Volume: 56 Issue: 4 Pages: 330-334
  • DOI: 10.1038/jhg.2011.14
  • Peer Reviewed
• [Journal Article] Endoplasmic reticulum stress response in P104L mutant caveolin-3 transgenic mice (2011)
  • Author(s): Kuga A, Ohsawa Y, Okada T, Kanda F, Kanagawa M, Toda T, Sunada Y.
  • Journal Title: Hum Mol Genet Volume: 20(15) Issue: 15 Pages: 2975-2983
  • DOI: 10.1093/hmg/ddr201
  • Peer Reviewed
• [Journal Article] The aggregation inhibitor peptide QBP1 as a therapeutic molecule for the polyglutamine neurodegenerative diseases (2011)
  • Author(s): H.Akiko Popiel
  • Journal Title: Journal of Atnino Acids Volume: 2011 Pages: 265084-265084
  • DOI: 10.4061/2011/265084
  • Peer Reviewed
• [Journal Article] Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy (2011)
  • Author(s): 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
  • Journal Title: Nature Volume: 478 Issue: 7367 Pages: 127-131
  • DOI: 10.1038/nature10456
  • Peer Reviewed
• [Journal Article] Role of sepiapterin reductase gene at the PARK3 locus in Parkinson's disease (2011)
  • Author(s): Sharma M
  • Journal Title: Neurobiol Aging Volume: 32 Issue: 11 Pages: 2108.e1-2108.e5
  • DOI: 10.1016/j.neurobiolaging.2011.05.024
  • Peer Reviewed
• [Journal Article] 【筋疾患update】αジストログリカン異常症 (2011)
  • Author(s): 久我敦
  • Journal Title: BRAIN and NERVE Volume: 63巻11号 Pages: 1189-1195
• [Journal Article] 【筋ジストロフィーの分子病態から治療へ】福山型筋ジストロフィー症の成因 (2011)
  • Author(s): 金川基
  • Journal Title: 生体の科学 Volume: 62巻2号 Pages: 91-94
• [Journal Article] 国際共同研究におけるGenome-Wide Association Study (GWAS) (2011)
  • Author(s): 戸田達史
  • Journal Title: Medical Science Digest Volume: 37巻9号 Pages: 346-347
• [Journal Article] 【パーキンソン病発症のメカニズム】パーキンソン病の分子遺伝学ゲノム関連解析研究 (2011)
  • Author(s): 戸田達史
  • Journal Title: BIO Clinica Volume: 26巻8号 Pages: 701-705
• [Journal Article] 【変わりゆくパーキンソン病診療早期診断から進行期患者の治療まで】孤発性パーキンソン病の分子病態機序はどこまで解明されたか (2011)
  • Author(s): 戸田達史
  • Journal Title: 内科 Volume: 107巻5号 Pages: 759-766
• [Journal Article] A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease (2011)
  • Author(s): Kruger R
  • Journal Title: Neurobiol Aging Volume: 32
  • Peer Reviewed
• [Journal Article] Defective glycosylation of α-dystroglycan contributes to podocyte flattening (2011)
  • Author(s): Kojima K
  • Journal Title: Kidney Int Volume: 79 Pages: 311-316
  • Peer Reviewed
• [Journal Article] Interleukin 6 signaling promotes anti-aquaporin 4 autoantibody production from plasmablasts in neuromyelitis optica (2011)
  • Author(s): Chihara N
  • Journal Title: Proc Natl Acad Sci U S A Volume: 108 Pages: 3701-3706
  • Peer Reviewed
• [Journal Article] Screening of genes involved in chromosome segregation during meiosis I : toward the identification of genes responsible for infertility in humans (2010)
  • Author(s): Kogo H
  • Journal Title: J Hum Genet Volume: 55 Pages: 293-299
  • Peer Reviewed
• [Journal Article] Analysis of GWAS-linked loci in Parkinson disease reaffirms PARK16 as a susceptibility locus (2010)
  • Author(s): Tan EK
  • Journal Title: Neurology Volume: 75 Pages: 508-512
  • Peer Reviewed
• [Journal Article] Post-translational maturation of dystroglycan is necessary for pikachurin binding and ribbon synaptic localization (2010)
  • Author(s): Kanagawa M
  • Journal Title: J Biol Chem Volume: 285 Pages: 31208-31216
  • Peer Reviewed
• [Journal Article] 孤発性パーキンソン病のリスク遺伝子 (2010)
  • Author(s): 戸田達史
  • Journal Title: 最新医学 Volume: 65 Pages: 806-813
• [Journal Article] ゲノムワイド関連解析によるパーキンソン病リスク遺伝子の同定 (2010)
  • Author(s): 戸田達史
  • Journal Title: 医学のあゆみ Volume: 233 Pages: 640-642
• [Journal Article] パーキンソン病のGWAS (2010)
  • Author(s): 戸田達史
  • Journal Title: Bio Clinica Volume: 25 Pages: 477-482
• [Journal Article] 福山型先天性筋ジストロフィーについて (2010)
  • Author(s): 戸田達史
  • Journal Title: 厚生労働科学研究事業こころの健康科学研究 Pages: 9-10
• [Journal Article] 福山型筋ジストロフィーの治療戦略 (2010)
  • Author(s): 戸田達史
  • Journal Title: 難病と在宅のケア Volume: 16 Pages: 41-43
• [Journal Article] 福山型筋ジストロフィー (2010)
  • Author(s): 戸田達史
  • Journal Title: JFNMH Newsletter Volume: 7 Pages: 2-6
• [Journal Article] 疾患感受性遺伝子 (2010)
  • Author(s): 戸田達史
  • Journal Title: Current Therapy Volume: 28 Pages: 859-860
• [Journal Article] 抗aquaporin-4抗体陽性症例の治療経験 (2010)
  • Author(s): 小田哲也
  • Journal Title: 神経内科 Volume: 73 Pages: 194-198
• [Journal Article] パーキンソン病 (2010)
  • Author(s): 徳田隆彦
  • Journal Title: Clinical Neuroscience Volume: 28 Pages: 1405-1409
• [Journal Article] パーキンソン病の遺伝的背景 (2010)
  • Author(s): 佐竹渉
  • Journal Title: 綜合臨牀 Volume: 59 Pages: 2388-2391
• [Presentation] EXOME SEQUENCING AND 2ND SNP-GWAS OF PD. (2015)
  • Author(s): Toda T, Satake W, Hattori N, Murata M.
  • Organizer: The 12th International Conference on Alzheimer's and Parkinson's Diseases and Related Neurological Disorders.
  • Place of Presentation: Nice, France
  • Year and Date: 2015-03-18 – 2015-03-22
• [Presentation] Exome sequencing and 2nd SNP-GWAS of Japanese Parkinson’s disease. (2014)
  • Author(s): Toda T, Satake W, Yamamoto M, Murata M, Hattori N, Sugano S.
  • Organizer: 4th Asian and Oceanian Parkinson’s Disease and Movement Disorders Congress.
  • Place of Presentation: Pattaya, Thailand
  • Year and Date: 2014-11-28 – 2014-11-30
• [Presentation] 神経・筋疾患の分子メカニズム、遺伝子治療、分子標的治療 / Molecular pathogenesis, genetic counseling, and molecular targeting therapy for neurological and muscular diseases. (2014)
  • Author(s): 戸田達史
  • Organizer: 日本人類遺伝学会第59回大会
  • Place of Presentation: 東京
  • Year and Date: 2014-11-19 – 2014-11-22
  • Invited
• [Presentation] Exome Association Study and 2nd SNP-GWAS of Japanese Parkinson’s disease. (2014)
  • Author(s): Satake W, Shigemizu D, Suzuki Y, Yamamoto K,Tomiyama H, Yamamoto M, Murata M, Hattori N, Tsunoda T, Kubo M, Tsuji S, Nakamura Y, Sugano S, Toda T.
  • Organizer: American Society of Human Genetics Annual meeting 2014.
  • Place of Presentation: San Diego U.S.A.
  • Year and Date: 2014-10-18 – 2014-10-22
• [Presentation] 神経難病の治療と研究の現状と展望 (2014)
  • Author(s): 戸田 達史
  • Organizer: 第38回日本遺伝カウンセリング学会学術集会
  • Place of Presentation: 大阪
  • Year and Date: 2014-06-26 – 2014-06-29
  • Invited
• [Presentation] パーキンソン病のリスク遺伝子 (2014)
  • Author(s): 戸田 達史
  • Organizer: 第55回日本神経学会学術大会
  • Place of Presentation: 福岡
  • Year and Date: 2014-05-21 – 2014-05-24
  • Invited
• [Presentation] Genomewide Analysis and Molecular Targeting Therapy for Parkinson’s Disease and Muscular Dystrophy (2014)
  • Author(s): Toda T.
  • Organizer: SYMPOSIUM ON MEMBRANE BIOLOGY
  • Place of Presentation: University of Washington, Seattle, U.S.A.
  • Invited
• [Presentation] GWAS and pathology: How are they connected? (2013)
  • Author(s): Toda T.
  • Organizer: The MDS 17th International Congress of Parkinson's Disease and Movement Disorders.
  • Place of Presentation: Sydney Convention and Exhibition
  • Invited
• [Presentation] Search for rare-variant risks of Parkinson’s disease by sequencing of candidate genes and exome sequencing. (2013)
  • Author(s): Satake W, Ando Y, Tomiyama H, Takeda A, Hasegawa K, Yamamoto M, Murata M, Hattori N, Toda T.
  • Organizer: The MDS 17th International Congress of Parkinson's Disease and Movement Disorders.
  • Place of Presentation: Sydney Convention and Exhibition Centre, Sydney, Australia
• [Presentation] Exome sequencing of Parkinson's disease in order to identify genetic variants with high disease-risk. (2013)
  • Author(s): Satake W, Suzuki Y, Ando Y, Tomiyama H, Yamamoto M, Murata M, Hattori N, Tsuji S, Sugano S, Toda T.
  • Organizer: American Society of Human Genetics Annual meeting 2013.
  • Place of Presentation: Boston Convention & Exhibition Center (BCEC), Boston, U.S.A.
• [Presentation] Japanese 2nd GWAS Identifies Strong Association at a Novel Risk Locus and MCCC1 for Parkinson's Disease. (2013)
  • Author(s): Toda T, Satake W, Yamamoto M, Hattori N, Murata M, Japanese PD Gene Consortium.
  • Organizer: he 11th international conference on alzheimer’s and parkinson’s diseases
  • Place of Presentation: Firenze Fiera, Florence, Italy,
• [Presentation] GWAS and pathology: How are they connected? (2013)
  • Author(s): Toda T.
  • Organizer: The MDS 17th International Congress of Parkinson's Disease and Movement Disorders
  • Place of Presentation: Sydney Convention and Exhibition Centre, Sydney, Australia
  • Invited
• [Presentation] Search for rare-variant risks of Parkinson’s disease by sequencing of candidate genes and exome sequencing (2013)
  • Author(s): Satake W, Ando Y, Tomiyama H, Takeda A, Hasegawa K, Yamamoto M, Murata M, Hattori N, Toda T
  • Organizer: The MDS 17th International Congress of Parkinson's Disease and Movement Disorders
  • Place of Presentation: Sydney Convention and Exhibition Centre, Sydney, Australia
• [Presentation] ゲノム解析によるパーキンソン病及び認知機能関連遺伝子の同定 (2012)
  • Author(s): 戸田達史
  • Organizer: 第35回日本神経科学大会
  • Place of Presentation: 名古屋国際会議場
  • Invited
• [Presentation] Genome-wide studies and molecular targeting therapy for neurological diseases (2011)
  • Author(s): Toda T
  • Organizer: JAPANESE-FINNISH JOINT SYMPOSIUM
  • Place of Presentation: Hilton Helsinki Strand(フィンランド)(招待講演)
  • Year and Date: 2011-12-14
• [Presentation] 候補遺伝子リシークエンスによるパーキンソン病のRare Variantリスクの探索 (2011)
  • Author(s): 西岡竜也
  • Organizer: 第34回日本分子生物学会年会
  • Place of Presentation: パシフィコ横浜(横浜)
  • Year and Date: 2011-12-14
• [Presentation] Genome-Wide DNA Methylation and Gene Expression Analyses of Monozygotic Twins Discordant for Intelligence Levels (2011)
  • Author(s): 游智傑
  • Organizer: 第34回日本分子生物学会年会
  • Place of Presentation: パシフィコ横浜(横浜)
  • Year and Date: 2011-12-13
• [Presentation] Genome-Wide DNA Methylation and Gene Expression Analyses of Monozygotic Twins Discordant for Intelligence Levels (2011)
  • Author(s): 游智傑
  • Organizer: 日本人類遺伝学会第56回大会
  • Place of Presentation: 幕張メッセ(千葉)
  • Year and Date: 2011-11-12
• [Presentation] Japanese subsequent GWAS identifies strong association at a novel risk locus and MCCC1 for Parkinson's disease (2011)
  • Author(s): Satake W
  • Organizer: The American society of Human Genetics 61st Annual Meeting
  • Place of Presentation: Montreal Convention Center(カナダ)
  • Year and Date: 2011-10-13
• [Presentation] 機能性糖鎖:基礎から疾患まで (2011)
  • Author(s): 戸田達史
  • Organizer: 第84回日本生化学会大会
  • Place of Presentation: 京都国際会館(京都)(招待講演)
  • Year and Date: 2011-09-22
• [Presentation] Japanese 2nd GWAS identifies a novel risk locus and detects a strong association at MCCC1 for Parkinson's disease (2011)
  • Author(s): Satake W
  • Organizer: Genetic Epidemiology of Parkinson's Disease Consortium 6th annual meeting
  • Place of Presentation: NorthShore University HealthSystem,(アメリカ)(招待講演)
  • Year and Date: 2011-09-19
• [Presentation] An a-synuclein 3'-flanking region SNP interacts with Parkinson's disease susceptibility via allele-specific binding of a transcription factor (2011)
  • Author(s): Mizuta I
  • Organizer: 15^<th> International Congress of Parkinson's Disease and Movement disorders
  • Place of Presentation: The Metro Toronto Convention Centre(カナダ)
  • Year and Date: 2011-06-09
• [Presentation] Effect of levodopa on parkinsonian dysarthria (1)-Acoustic analysis of articulation, phonation and respiration (2011)
  • Author(s): Okada Y
  • Organizer: 15^<th> International Congress of Parkinson's Disease and Movement disorders
  • Place of Presentation: The Metro Toronto Convention Centre(カナダ)
  • Year and Date: 2011-06-08
• [Presentation] Effect of levodopa on parkinsonian dysarthria (2)-Formant analysis of Japanese five vowels (2011)
  • Author(s): Okada Y
  • Organizer: 15^<th> International Congress of Parkinson's Disease and Movement disorders
  • Place of Presentation: The Metro Toronto Convention Centre(カナダ)
  • Year and Date: 2011-06-08
• [Presentation] パーソナルゲノム研究のオーバービュー (2011)
  • Author(s): 戸田達史
  • Organizer: 第52回日本神経学会学術大会
  • Place of Presentation: 名古屋国際会議場(名古屋)(招待講演)
  • Year and Date: 2011-05-19
• [Presentation] PD GWAS in Asian Cohort (2011)
  • Author(s): Satake W
  • Organizer: Genetics of Neurodegenerative Disease Neurochip and Beyond
  • Place of Presentation: Omni Shoreham Hotel(ワシントンD.C.)(招待講演)
  • Year and Date: 2011-04-20
• [Presentation] 認知能力の差が顕著な一卵性双生児のDNAメチル化解析 (2010)
  • Author(s): 小林千浩
  • Organizer: 第33回日本分子生物学会年会第83回日本生化学会大会合同大会
  • Place of Presentation: 神戸ポートアイランド(兵庫県)
  • Year and Date: 2010-12-07
• [Presentation] ゲノムワイド関連解析は、4つのパーキンソン病感受性遺伝子座を同定した (2010)
  • Author(s): 佐竹渉
  • Organizer: 第33回日本分子生物学会年会第83回日本生化学会大会合同大会
  • Place of Presentation: 神戸ポートアイランド(兵庫県)
  • Year and Date: 2010-12-07
• [Presentation] Genome-wide gene expression and DNA methylation analyses of significantly discordant monozygotic twins for cognitive ability (2010)
  • Author(s): Kobayashi K
  • Organizer: American Society of Human Genetics 60th Annual Meeting
  • Place of Presentation: Washington Convention Center (Washington DC,米国)
  • Year and Date: 2010-11-03
• [Presentation] Genome-wide association study identifies variants at four loci as genetic risk factors for Parkinson's disease (2010)
  • Author(s): Satake W
  • Organizer: American Society of Human Genetics 60th Annual Meeting
  • Place of Presentation: Washington Convention Center (Washington DC,米国)
  • Year and Date: 2010-11-03
• [Presentation] 認知能力の差が顕著な一卵性双生児の分子遺伝学的解析 (2010)
  • Author(s): 小林千浩
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: 大宮ソニックシティ(埼玉県)
  • Year and Date: 2010-10-30
• [Presentation] パーキンソン病:genetic variantsと病態 (2010)
  • Author(s): 戸田達史
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: 大宮ソニックシティ(埼玉県)(招待講演)
  • Year and Date: 2010-10-29
• [Presentation] ゲノムワイド関連解析は、4つのパーキンソン病感受性遺伝子座を同定した (2010)
  • Author(s): 佐竹渉
  • Organizer: 日本人類遺伝学会第55回大会
  • Place of Presentation: 大宮ソニックシティ(埼玉県)
  • Year and Date: 2010-10-28
• [Presentation] 認知能力の差が顕著な一卵性双生児の網羅的遺伝子発現・DNAメチル化解析 (2010)
  • Author(s): 小林千浩
  • Organizer: 日本パーソナリティ心理学会第19回大会
  • Place of Presentation: 慶應義塾大学三田キャンパス(東京都)(招待講演)
  • Year and Date: 2010-10-11
• [Presentation] ゲノムワイド関連解析は、4つのパーキンソン病感受性遺伝子座を同定した (2010)
  • Author(s): 佐竹渉
  • Organizer: 第4回パーキンソン病・運動障害疾患コングレス
  • Place of Presentation: 京都ホテルオークラ(京都府)
  • Year and Date: 2010-10-08
• [Presentation] PDの危険因子としての遺伝子異常 (2010)
  • Author(s): 戸田達史
  • Organizer: 第4回パーキンソン病・運動障害疾患コングレス
  • Place of Presentation: 京都ホテルオークラ(京都府)(招待講演)
  • Year and Date: 2010-10-07
• [Presentation] Genome-wide association study identifies variants at four loci as genetic risk factors for Parkinson's disease (2010)
  • Author(s): Satake W
  • Organizer: 第33回日本神経科学会大会、第53回日本神経化学会大会、第20回日本神経回路学会大会合同大会
  • Place of Presentation: 神戸コンベンションセンター(兵庫県)
  • Year and Date: 2010-09-02
• [Presentation] Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease (2010)
  • Author(s): Satake W
  • Organizer: 14th International Congress of Parkinson's Disease and Movement Disorders
  • Place of Presentation: Sheraton Buenos Aires Hotel and Convention Center (Buenos Aires,アルゼンチン)
  • Year and Date: 2010-06-16
• [Presentation] パーキンソン病の分子病態機序のブレークスルー (2010)
  • Author(s): 戸田達史
  • Organizer: 第51回日本神経学会総会
  • Place of Presentation: 東京国際フォーラム(東京都)(招待講演)
  • Year and Date: 2010-05-21
• [Presentation] ゲノムワイド関連解析は、4つのパーキンソン病感受性遺伝子座を同定した (2010)
  • Author(s): 佐竹渉
  • Organizer: 第51回日本神経学会総会
  • Place of Presentation: 東京国際フォーラム(東京都)
  • Year and Date: 2010-05-20
• [Remarks] 神戸大学大学院 医学研究科 生理学・細胞生物学講座 分子脳科学分野
  • URL: http://www.med.kobe-u.ac.jp/clgene/
• [Remarks] 神経内科 神戸大学大学院医学系研究科・内科学講座
  • URL: http://www.med.kobe-u.ac.jp/sinkei/
• [Remarks] 神戸大学大学院 医学研究科 生理学・細胞生物学講座 分子脳科学分野
  • URL: http://www.med.kobe-u.ac.jp/clgene/
• [Remarks] 神経内科 神戸大学大学院医学系研究科・内科学講座
  • URL: http://www.med.kobe-u.ac.jp/sinkei/
• [Remarks] 神戸大学大学院 医学研究科 生理学・細胞生物学講座 分子脳科学分野
  • URL: http://www.med.kobe-u.ac.jp/clgene/
• [Remarks]
  • URL: http://www.med.kobe-u.ac.jp/im3/rinsyo/shinkei/index.html
• [Remarks]
  • URL: http://www.med.kobe-u.ac.jp/clgene/
• [Remarks]
  • URL: http://www.med.kobe-u.ac.jp/im3/rinsyo/shinkei/index.html
• [Remarks]
  • URL: http://www.med.kobe-u.ac.jp/clgene/
• [Patent(Industrial Property Rights)] 福山型筋ジストロフィー治療用医薬組成物 (2012)
  • Inventor(s): 戸田 達史、 小林 千浩、 池田 真理子
  • Industrial Property Rights Holder: 戸田 達史、 小林 千浩、 池田 真理子
  • Industrial Property Rights Type: 特許
  • Industrial Property Number: 2012-086891
  • Filing Date: 2012-04-05
• [Patent(Industrial Property Rights)] パーキンソン病発症リスクマーカー (2010)
  • Inventor(s): 戸田達史
  • Industrial Property Rights Holder: エーザイ・アール・アンド・ディーマネジメント株式会社
  • Filing Date: 2010-05-14