研究成果

原著論文

2010年 | 2009年 | 2008年 | 2007年 | 2006年 | 2005年 | 2004年 | 2003年以前

2010年

  1. Shiomi K, Kiyono T, Okamura K, Uezumi M, Goto Y, Yasumoto S, Shimizu S, Hashimoto N. CDK4 and Cyclin D1 Allow Human Myogenic Cells to Recapture Growth Property Without Compromising Differentiation Potential. Gene Therapy (in press)
  2. Nishigaki Y, Ueno H, Coku J, Koga Y, Fujii T, Sahashi K, Nakano K, Yoneda M, Nonaka I, Tang L, Liou C-W, Paquis-Flucklinger V, Harigaya Y, Ibi T, Goto Y, Hosoya H, DiMauro S, Hirano M, Tanaka M: Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. Mitochondrion 10:300-308, 2010
  3. Komaki H, Nishigaki Y, Fuku N, Hosoya H, Murayama K, Ohtake A, Goto Y, Wakamoto H, Koga Y, Tanaka M: Pyruvate therapy for Leigh syndrome due to cytochrome c oxidase deficiency. Biochim Biophys Acta 1800, 313-315,2010
  4. Kobayashi A, Goto Y, Nagata M, Yamaguchi Y: Granular swollen epithelial cells: a histological and diagnostic marker for mitochondrial nephropathy. Am J Surg Pathol 34(2):262-70,2010
  5. Fukumoto N, Fujita T, Combarros O, Kamboh MI, Tsai SJ, Matsushita S, Nacmias B, Comings DE, Arboleda H, Ingelsson M, Hyman BT, Akatsu H, Grupe A, Nishimura AL, Zataz M, Mattila KM, Rinne J, Goto YI, Asada T, Nakamura S, Kunugi H: Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer’s disease: New data and meta-analysis. Am J Med Genet B Neuropychiatr Genet 153B: 235-242, 2010
  6. Hanai S, Saito T, Nakagawa E, Arai A, Otsuki T, Sasaki M, Goto Y, Itoh M. Abnormal development of neurons in focal cortical dysplasia: neuronal mis-maturation from an immunohistochemical consideration. Seizure 2010; 19: 274-279.
  7. Honda S, Hayashi S, Imoto I, Toyama J, Okazaki H, Nakagawa E, Goto Y, Inazawa J, Japanese Mental Retardation Consortium. Copy-number variations on the X chromosome in Japanese patients with mental retardation detected by array-based comparative genomic hybrizdization. J Hum Genet 55:590-599, 2010.
  8. Matsushima Y, Goto Y, Kaguni LS. Mitochondrial Lon protease regulates mitochondrial DNA copy number and transcription by selective degeneration of mitochondrial transcription factor A (TFAM). Proc Natl Acad Sci USA 107:18410-18415, 2010.
  9. Itoh M, Takizawa Y, Hanai S, Okazaki S, Miyata R, Shu H, Inoue T, Akashi T, Goto Y, Hayashi M. Lack of glucagon- and pancreatic peptide-producing cells of pancreatic islets of X-linked lissencephaly with abnormal genitalia. Differentiation 2010 (DOI 10.1016/j.diff.2010.05.003).
  10. Saito T, Hanai S, Takashima S, Morikawa Y, Okazaki S, Inoue T, Miyata R, Hoshino K, Akashi T, Sasaki M, Goto Y, Nakagawa E, HayashiM, Itoh M. Neocortical layer-formation of the human developing brains and lissencephalies: consideration of layer-specific markers expression. Cereb Cortex 2010 (doi:10.1093/cercor/bhq125).
  11. Mimaki M, Hatakeyama H, Komaki H, Yokoyama M, Arai H, Kirino Y, Suzuki T, Nishino I, Nonaka I, Goto Y. Reversible infantile respiratory chain deficiency: a clinical and molecular study. Ann Neurol 68:845-854,2010.
  12. Osaka H, Hamanoue H, Yamamoto R, Nezu A, Sasaki M, Saitsu H, Kurosawa K, Shimbo H, Matsumoto N, Inoue K. Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease. Ann Neurol. 2010;68(2):250-4.

2009年

  1. Mimaki M, Ichiyama T, Isumi H, Furukawa S, Akasaka M, Kamei A, Komaki H, Nonaka I, Goto Y: Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders. Mitochondrion 9:115-122, 2009
  2. Ishihara N, Nomura M, Jofuk A, Kato H, Suzuki SO, Masuda K, Otera H, Nakanishi Y, Nonaka I, Goto Y-I, Taguchi N, Morinaga H, Maeda M, Takayanagi R, Yokota S, Mihara K: Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice. Nature Cell Biol 11: 958-966, 2009
  3. Takizawa Y, Miyazawa T, Nonomiya S, Goto Y, Itoh M: Edaravone Inhibits DNA peroxidation and neuronal cell death in neonatal hypoxic-ischemic encephalopathy model rat. Pediatr Res 65: 636-641, 2009
  4. Shimojima K, Komoike Y, Tohyama J, Takahashi S, Páez MT, Nakagawa E, Goto Y, Ohno K, Ohtsu M, Oguni H, Osawa M, Higashinakagawa T, Yamamoto T: TULIP1 (RALGAPA1) haploinsufficiency with brain development delay. Genomics 94:414-422, 2009
  5. Tanaka N, Goto Y, Akanuma J, Kato M, Kinoshita T, Yamashita F, Tanaka M, Asada T: Mitochondrial DNA variants in a Japanese population of patients with Alzheimer’s disease. Mitochondrion 10:32-37, 2009.
  6. Saitoh M, Itoh M, Takashima S, Mizuguchi M, Iwamori M: Phosphatidyl ethanolamine with increased polyunsaturated fatty acids in compensation for plasmalogen defect in the Zellweger syndrome brain. Neurosci Lett 449:164-167,2009
  7. Itoh M: An 11-month-old boy with intractable epilepsy from birth. Neuropathology 29: 196-199, 2009
  8. Inoue K, Tanaka N, Yamashita F, Sawano Y, Asada T, Goto YI: The P86L common allele of CALHM1 does not influence risk for Alzheimer disease in Japanese cohorts. Am J Med Genet Part B 153B:532-535,2009
  9. Nonoda Y, Saito Y, Itoh M, Nakagawa E, Sugai K, Takahashi A, Otsuki T, Saito Y, Arima K, Mizuguchi M, Goto Y, Sasaki M: Activation of microglia/macrophages expressing phosphorylated S6 ribosomal protein in a case of hemimegalencephaly with progressive calcification and atrophy. J Neurol Sci 287: 52-59, 2009
  10. Matsushima Y, Kaguni LS: Functional importance of the conserved N-terminal domain of the mitochondrial replicative DNA helicase. Biochim Biophys Acta  -Bioenergetics 1787: 290-295, 2009
  11. Morimura T, Ogawa M:Relative importance of the tyrosine phosphorylation sites of Disabled-1 to the transmission of Reelin signaling. Brain research 1304:26-37, 2009
  12. Morimura T, Ogawa M:Analysis of relative roles of the individual phosphotyrosine of Disabled-1 in Reelin signaling. Neuroscience Research, 65: S161,2009
  13. Kitamura K, Itou Y, Yanazawa M, Ohsawa M, Suzuki-Migishima R, Umeki Y, Hohjoh H, Yanagawa Y, Shinba T, Itoh M, Nakamura K, Goto Y:Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. Hum. Mol. Genet.18: 3708 -3724,2009
  14. Iizuka T, Goto Y, Miyakawa S, Sato M, Z Wang, Suzuki K, Hamada J, Kurata A, Sakai F: Progressive carotid artery stenosis with a novel tRNA phenylalanine mitochondrial DNA mutation. J. Neurol. Sci. 278:35-40, 2009.

2008年

  1. Oishi M, Miki K, Morita A, Fujioka K, Aoki S, Nishino I, Nonaka I, Goto Y, Mizutani T: Mitochondrial encephalopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy. Inter Med 47:441-444, 2008.
  2. Takano K, Nakagawa E, Inoue K, Kamada F, Kure S, Goto Y : A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family. Am J Med Genet B Neuropsychiatr Genet 147B(4): 479-484, 2008.
  3. Deguchi K, Clewing JM, Elizondo LI, Hirano R, Huang C, Choi K, Sloan EA, Lücke T, Marwedel KM, Powell RD, SantaCruz K, Willaime-Morawek S, Inoue K, Lou S, Northrop JL, Kanemura Y, van der Kooy D, Okano H, Armstrong DL, Boerkoel CF: Neurological phenotype of Schimke immuno-osseous dysplasia and neurodevelopmental expression of SMARCAL1. J Neuropath Exp Neurol 67: 565-577, 2008.
  4. Shiraishi M, Takizawa Y, Ide S, Obonai T, Goto Y, Itoh M: Brainstem monoamine pathology of neonatal hypoxic-ischemic brain damage: a model of acute stage of neonatal asphyxia. Brain Res 1213: 120-126, 2008.
  5. Okazaki S, Ohsawa M, Kitamura K, Kuki I, Kawawaki H, Koriyama T, Ri S, Ichiba H, Hai E, Inoue T, Nakamura H, Tomiwa K, Yamano T, Goto Y, Itoh M: Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG). Acta Neuropathol 116:453–462, 2008.
  6. Itoh M, Suzuki Y, Ohsawa, M, Kozuka N, Sugai K, Otsuki T, Goto Y: Aluminum accumulation in myelin sheath of progressive leukoencephalopathy. J Child Neurol 23:938-943, 2008.
  7. Kanaumi T, Takashima S, Iwasaki H, Itoh M, Mitsudome A, Hirose S: Developmental changes in KCNQ2 and KCNQ3 expression in human brain: Possible contribution to the age-dependent etiology of benign familial neonatal convulsions. Brain Dev 30: 362-369, 2008.
  8. Shinozaki Y, Osawa M, Sakuma H, Komaki H, Nakagawa E, Sugai K, Sasaki M, Goto Y: Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms. Brain Dev 31: 469-472, 2008.
  9. Sato K, Nakagawa E, Saito Y, Komaki H, Sakuma H, Sugai K, Sasaki M, Kaido T, Nakama H, Otsuki T: Hyperkinetic movement disorder in a child treated by globus pallidus stimulation. Brain Dev 31: 452-455, 2008.
  10. Saito Y, Sugai K, Nakagawa E, Sakuma H, Komaki H, Sasaki M, Maegaki Y, Ohno K, Sato N, Kaneko Y, Otsuki T: Treatment of epilepsy in severely disabled children with bilateral brain malformations.J Neurol Sci 277: 37-49, 2008.
  11. Ito S, Nakayama T, Ide S, Ito Y, Oguni H, Goto Y, Osawa M: Aromatic L-aminoacid decarboxylase deficiency associated with epilepsy mimicking non-epilepticinvoluntary movements. Dev Med Child Neurol 50: 876-878, 2008.
  12. Hashimoto N, Kiyono T, Wada MR, Umeda R, Goto Y, Nonaka I, Shimizu S, Yasumoto S, Inagawa-Ogashiwa M: Osteogenic properties of human myogenic progenitor cells. Mechanism Dev 125:257-269, 2008
  13. Oishi M, Miki K, Morita A, Fujioka K, Aoki S, Nishino I, Nonaka I, Goto Y, Mizutani T: Mitochondrial encephalopathy associated with diabetes mellitus, cataract, and corpus callosum atrophy. Inter Med 47:441-444, 2008
  14. Kanaumi T, Takashima S, Iwasaki H, Itoh M, Mitsudome A, Hirose S: Developmental changes in KCNQ2 and KCNQ3 expression in human brain: Possible contribution to the age-dependent etiology of benign familial neonatal convulsions. Brain Dev 30: 362-369, 2008

2007年

  1. Suzuki Y, Ichinomiya S, Kurosawa M, Ohkubo M, Watanabe H, Iwasaki H, Matsuda J, Noguchi Y, Takimoto K, Itoh M, Tabe M, Iida M, Kubo T, Ogawa S, Nanba E, Higaki K, Ohno K, Brady RO: Chemical Chaperone Therapy: Clinical Effect in Murine GM1-Gangliosidosis. Ann Neurol 62: 671-675, 2007
  2. Saitoh M, Sakakihara Y, Mizuguchi M, Itoh M, Takashima S, Iwamori M, Kamoshita S, Igarashi T.  Increase of ceramide monohexoside and dipalmitoyl glycerophospholipids in the brain of Zellweger syndrome. Neurosci Lett 417: 165-170, 2007
  3. Munakata M, Watanabe M, Otsuki T, Nakama H, Arima K, Itoh M, Nabekura J, Iinuma K, Tsuchiya S: Altered distribution of KCC2 in cortical dysplasia in patients with intractable epilepsy. Epilepsia 48: 837-844, 2007
  4. Okoshi Y, Mizuguchi M, Itoh M, Oka A, Takashima S: Altered nestin expression in the cerebrum with periventricular leukomalacia. Pediatr Neurol 36: 170-174, 2007
  5. Hirano R, Interthal H, Huang C, Nakamura T, Deguchi K, Choi K, Bhattacharjee MB, Arimura K, Umehara F, Izumo S, Northrop JL, Salih MAM, Inoue K, Armstrong DL, Champoux JJ, Takashima H, Boerkoel CF: Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? EMBO J 26: 4732-4743, 2007
  6. Hayashi M, Maeda S, Aburatani H, Kitamura K, Miyoshi H, Miyazono K, Imamura T: Pitx2 prevents osteoblastic transdifferentiation of myoblasts by bone morphogenetic proteins. J Biol Chem 4283: 565-571, 2007
  7. Shinmei Y, Kase M, Suzuki Y, Nitta T, Chin S, Yoshida K, Goto Y, Nagashima T, Ohno S: Ocular motor disorders in mitochondrial encephalopathy with lactic acid and stroke-like episodes with the 3271 (T-C) point mutation in mitochondrial DNA. J Neuro Ophthalmol 27: 22-28, 2007
  8. Itoh M, Ide S, Takashima S, Kudo S, Nomura Y, Segawa M, Kubota T, Mori H, Tanaka S, Horie H, Tanabe Y, Goto Y: Methyl CpG-binding protein 2 (a mutation of which causes Rett syndrome) directly regulates insulin-like growth factor binding protein 3 in mouse and human brains. J Neuropathol Exp Neurol 66: 117-123, 2007
  9. Inoue K, Ohyama T, Sakuragi Y, Yamamoto R, Inoue NA, Li-Hua Y, Goto Y, Wegner M, Lupski JR: Translation of SOX10 3′ untranslated region causes a complex severe neurocristopathy by generation of a deleterious functional domain. Hum Mol Genet 16: 3037-3046, 2007

2006年

  1. Nishijima I, Yamagata T, Spencer CM, Weeber EJ, Alekseyenko O, Sweatt JD, Momoi M, Ito M, Armstrong D, Nelson D, Paylor R, Bradley A: Secretin receptor deficient mice exhibit impaired synaptic plasticity and social behavior. Hum Mol Genet 15: 3241-3250, 2006.
  2. Takizawa Y, Takashima S, Itoh M: A histopathological study of premature and mature infants with pontosubicular neuron necrosis: neuronal cell death in perinatal brain damage. Brain Res 1095: 200-206, 2006.
  3. Kin T, Sugie K, Hirano M, Goto Y, Nishino I, Ueno S: Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia. J Hum Genet 51: 555-558, 2006.
  4. Uemura K, Yamashita N, Yu X, Arima K, Asada T, Makifuchi T, Murayama S, Saito Y, Kanamaru K, Goto Y, Kohsaka S, Kanazawa I, Kimura H: Autotaxin expression is enhanced in frontal cortex of Alzheimer-type dementia patients. Neurosci lett 400: 97-100, 2006.
  5. Bhattacharjee M, Venugopal B, Wong KT, Goto Y, Bhattacharjee MB: Mitochondrial disorder, diabetes mellitus, and findings in three muscles, including the heart. Ultrasturctural Pathol 30: 135-141, 2006.
  6. Kato H, Uchigata M, Iijima M, Shimizu S, Nonaka I, Goto Y: Fatal cerebral hemorrage in mitochondrial encephalomyopathy-clinical and pathological data of a case. J Neurol 253: 529-530, 2006.
  7. Lee JA, Inoue K, Cheung SW, Shaw CA, Stankiewicz P, Lupski JR. Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease. Hum Mol Genet 15: 2250-2265, 2006.
  8. Yamasoba T, Goto Y, Komaki H, Mimaki M, Sudo A, Suzuki M: Cochlear damage due to germanium-induced mitochondrial dysfunction in guinea pigs. Neurosci Lett 395: 18-22, 2006.
  9. Watanabe M, Mita S, Takita T, Goto Y, Uchino M, Imamura S: Leber’s hereditary optic neuropathy with dystonia in a Japanese family. J Neurol Sci 243: 31-34, 2006.
  10. Lee JA, Madrid RE, Sperle K, Ritterson CM, Hobson GM, Garbern J, Lupski JR, Inoue K. Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect. Ann Neurol. 2006;59:398-403.

2005年

  1. Kawahara Y, Ito K, Ito M, Tsuji S, Kwak S. Novel splice variants of human ADAR2 mRNA: skipping of the exon encoding the ds RNA-binding domains, and multiple C-terminal splice sites. Gene 363:193-201, 2005.
  2. Mizuguchi M, Itoh M. A 35-year-old femal with growth and developmental retardation, progressive ataxia, dementia and visual loss. Neuropathology 25:103-106, 2005.
  3. Fukuda T, Itoh M, Ichikawa T, Washiyama K, Goto Y. Delayed maturation of neuronal architecture and synaptogenesis in cerebral cortex of mecp2-deficient mice. J Neuropathol Exp Neurol 64: 537-544, 2005.
  4. Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR. ER retention and aggregation induced apoptosis associated with neuropathy causing MPZ truncating mutants are abrogated by curcumin treatment. Am J Hum Genet 2005;77:841-50
  5. Lee JA, Cheung SW, Ward PA, Inoue K, Lupski JR. Prenatal diagnosis of PLP1 copy number by array comparative genomic hybridization. Prenat Diag 2005;25:1188-91
  6. Ide S, Itoh M, Goto Y: Defect in normal developmental increase of the brain biogenic amine concentrations in the mecp2-null mouse. Neurosci Lett 386: 14-17, 2005.
  7. Takahashi N, Shimada T, Murakami Y, Katoh H, Oyake N, Ishibashi Y, Nishino I, Nonaka I, Goto Y: Vascular involvement in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. Am J Med Sci 329: 265-266, 2005.
  8. Nakashima-Kamimura N, Asoh S, Ishibashi Y, Mukai Y, Shidara Y, Oda H, Munakata K, Goto Y, Ohta S: MIDAS/GPP34, a nuclear gene product, regulates total mitochondrial mass in response to mitochondrial dysfunction. J Cell Sci 118: 5357-5367, 2005.
  9. Soyama A, saito Y, Hanioka N, Maekawa K, Komamura K, Kamakura S, Kitakaze M, Tomoike H, Ueno K, Goto Y, Kimura H, Katoh M, Sugai K, Saitoh O, Kawai M, Ohnuma T, Ohtsuki T, Suzuki C, Minami N, Kamatani N, Ozawa S, Sawada J: Single nucleotide polymorphisms and haplotypes of CYP1A2 in a Japanese population. Drug Metabol Pharmacokin 20: 24-33, 2005.
  10. Nakajima Y, Saito Y, Shiseki K, Fukushima-Uesaka H, Hasegawa R, Ozawa S, Sugai K, Katoh M, Saito O, Ohnuma T, Kawai M, Ohtsuki T, Suzuki C, Minami N, Kimura H, Goto Y, Kamatani N, Kaniwa N, Sawada J: Haplotype structures of EPHX1 and their effects on the metabolism of carbamazepine-10,11-epoxide in Japanese epileptic patients. Eur J Clin Pharacol 61: 25-34, 2005.
  11. Hasegawa D, Manabe A, Kubota T, Kawasaki H, Hirose I, Ohtsuka Y, Tsuruta T, Ebihara Y, Goto Y, Zhao XY, Sakashita K, Koike K, Isomura M, Kojima S, Hoshika A, Tsuji K, Nakahata T. Methylation status of the p15 and p16 genes in paediatric myelodysplastic syndrome and juvenile myelomonocytic leukaemia. Br J Haematol 128: 805-812, 2005.
  12. Hichiya H, Tanaka-Kagawa T, soyama A, Jinno H, Koyano S, Katori N, Matsushima E, Uchiyama S, Tokunaga H, Kimura H, Minami N, Katoh M, Sugai K, Goto Y, Tamura T, Yamamoto N, Ohe Y, Kunitoh H, Nokihara H, Yoshida T, Minami H, Saijo N, Ando M, Ozawa S, Saito Y, Sawada J: Functional characterization of five novel CYP2C8 variants, G171S, R186X, R186G, K247R, and K383N, found in a Japanese population. Drug Metabol Dispos 33: 630-636, 2005.
  13. Matsunaga T, Kumanomido H, Shiroma M, Goto Y, Usami S: Audiological features and mitochondrial DNA sequence in a large family carrying mitochondrial A1555G mutation without use of aminoglycoside. Ann Otol Rhinol Laryngol 114: 153-160, 2005.
  14. Yoshihara S, Omichi K, Yanazawa M, Kitamura K, Yoshihara Y: Arx homeobox gene is essential for development of mouse olfactory system. Development 132: 751-762, 2005.

2004年

  1. Itoh M, Fukuda T: Comparative neuropathology and immunohistochemistry of brains with human Rett syndrome and its model mice. Brain Dev 26: 415-416, 2004.
  2. Saito Y, Yamamoto T, Ohtsuka-Tsurumi E, Oka A, Mizuguchi M, Itoh M, Voit T, Kato Y, Kobayashi M, Saito K, Osawa M: Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Brain Dev 26:469-479, 2004.
  3. Mizuguchi M, Itoh M, Ozawa H: An 11-month-old girl with arrested psychomotor development and lactic acidosis.  Neuropathology 24:103-106, 2004.
  4. Kawahara Y, Ito K, Sun H, Ito M, Kanazawa I, Kwak S: GluR4c, an alternative splicing isoform of GluR4, is abundantly expressed in the adult human brain. Brain Res Mol Brain Res 127: 150-155, 2004.
  5. Kawahara Y, Ito K, Sun H, Ito M, Kanazawa I, Kwak S: Regulation of glutamate receptor RNA editing and ADAR mRNA expression in developing human normal and Down’s syndrome brains. Brain Res Dev Brain Res 148 :151-155, 2004.
  6. Kato M, Das S, Petras K, Kitamura K, Morohashi K, Abuelo DN, Barr M, Bonneau D, Brady A, Carpenter NJ, Frisone F, Fukuda T, Eri Iida RG, Itoh M, Lewanda AF, Nanba Y, Oka A, Proud VK, Russel KL, Saugier-Veber P, Schelley SL, Selicorni A, Shaner R, Silengo M, Stewart F, Sugiyama N, Toyama J, Toutain A, Vargas AL, Yanazawa M, Zackai1 EH, Dobyns WB: Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation. Hum Mutat 23: 147-159. 2004.
  7. Inoue K, Khajavi M, Oyama T, Hirabayashi T, Wilson J, Reggin JD, Mancias P, Butler IJ, Wilkinson MF, Wegner M, Lupski JR: Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet 36: 361-369, 2004.
  8. Stankiewics P, Shaw CJ, Withers M, Inoue K, Luspki JR: Serial segmental duplications during promate evolution result in complex human genome architecture. Genome Res 14: 2209-2220, 2004.
  9. Kubota T, Furuumi H, Kamoda T, Iwasaki N, Tobita N, Fujiwara N, Goto Y, Matsui A, Sasakai H, Kajii T: ICF syndrome in a girl with DNA hypomethylation but without detectable DNMT3B mutation. Am J Med Genet 129A: 290-293, 2004.
  10. Komaki H, Akanuma J, Iwata H, Takahashi T, Mashima Y, Nonaka I, Goto Y: A novel mtDNA C11777A mutation in Leigh syndrome. Mitochondrion 2: 293-304, 2003.
  11. Tomitsuka E, Hirawake H, Goto Y, Taniwaki S, Harada S, Kita K: Direct evidence for two distinct forms of the flavoprotein subunit of human mitochondrial complex II (succinate-ubiquinone reductase).  J Biochem 134:191-195, 2003.
  12. Tomitsuka E, Goto Y, Taniwaki M, Kita K: Direct evidence for expression of type II flavoprotein subunit in human complex II (succinate-ubiquinone reductase). Biochem Biophys Res Commun 311: 774-779, 2003.
  13. Ohkubo T, Sakasegawa Y, Asada T, Kinoshita T, Goto Y, Kimura H, Mizusawa H, Hachiya NS, Kaneko K: Absence of association between codon 129/219 polymorphisms of the prion protein gene and Altzheimer’s disease in Japan. Ann Neurol 54:553-554, 2003.
  14. Noguchi S, Keira Y, Murayama K, Ogawa M, Fujita M, Kawahara G, Oya Y, Imazawa M, Goto Y, Hayashi YK, Nonaka I, Nishino I: Reduction of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase activity and sialation in distal myopathy with rimmed vacuoles. J Biol Chem 279: 11402-11407, 2004.
  15. Sudo A, Honzawa S, Nonaka I, Goto Y: Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. J Hum Genet 49:92-96, 2004.

2003年以前

  1. Goto Y, Nonaka I, Horai S: A mutation in the tRNA-Leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348, 651-653, 1990
  2. Kadowaki T, Kadowaki H, Mori Y, Tobe K, Sakuta R, Suzuki Y, Tanabe Y, Sakura H, Awata T, Goto Y, Hayakawa T, Matsuoka K, Kawamori R, Kamada T, Horai S, Nonaka I, Hagura R, Akanuma Y, Yazaki Y: A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med 330, 962-968,1994
  3. Hayashi J-I, Takemitsu M, Goto Y, Nonaka I: Human mitochondria and mitochondrial genome: Function as a single dynamic cellular unit. J Cell Biol 125:43-50, 1994
  4. Inoue K, Nakada K, Ogura O, Isobe K, Goto Y, Nonaka I, Hayashi J-I: Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nature Genet 26, 176-181, 2000
  5. Nakada K, Inoue K, Ono T, Isobe K, Ogura A, Goto Y, Nonaka I, Hayashi J-I. Inter-mitochondrial complementation: Mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA. Nature Med 7, 94-940, 2001
  6. Itoh M, Fukuda T. Comparative neuropathology and immunohistochemistry of brains with human Rett syndrome and its model mice. Brain Dev 2004;26:415-416.
  7. Mizuguchi M, Mori M, Nozaki Y, Momoi MY, Itoh M, Takashima S, Hino O. Absence of allelic loss in cytomegalic neurons of cortical tuber in the Eker rat model of tuberous sclerosis. Acta Neuropathol 2004;107:47-52.
  8. Matsuda J, Suzuki O, Oshima A, Yamamoto Y, Noguchi A, Takimoto K, Itoh M, Matsuzaki Y, Yasuda Y, Ogawa S, Sakata Y, Nanba E, Higaki K, Ogawa Y, Tominaga L, Ohno K, Iwasaki H, Watanabe H, Brady R, Suzuki Y. Chemical chaperone therapy for brain pathology in GM1-gangliosidosis. Proc Natl Acad Sci USA 2003; 100: 15912-15917.
  9. Shiraishi K, Itoh M, Sano K, Takashima S, Kubota T. Myelination of a fetus with Pelizaeus-Merzbacher disease: immunopathological study. Ann Neurol 2003;54:259-262.