2025

• Nakano M†*, Kondo K†, Ishiki K, Moniruzzaman M, Mitsuishi Y, Kadota A, Watanabe S, Yamashita K, Miura M, Iwanaga S, Sato T, Nishimura M*,  Miura K.  † equally contributed, * Corresponding author
  Plasma biomarkers for Alzheimer's disease in middle-aged and older Japanese men: A population-based cross-sevtional study.
  J Alzheimers Dis 2025 in press

• Utsuno Y, Hamanaka K, Sakamoto M,Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A,  Miyatake S, Mizuguchi T, Matsumoto N.

A practical framework for predicting splicing single nucleotide variants in exome sequencing

     NAR Genom Bioinform. Dec 19;7(4):lqaf180. 2025 

• Hayashi Y, Kajiwara K, Mizuno S, Okamoto N, Chan MY, Goto T, Hayakawa S, Kato M, Kim CA, Lev D, Moey LH, Taylor J, Gregersen N, Nezer-Kaner I, Keng WT, Okada S, Osaka H, Sagie T, Sakai Y, Tashiro K, Yap P, Fu L, Iwama K, Liang Q, Nishimura N, Saito S, Sakamoto M, Utsuno Y, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Miyatake S, Mizuguchi T, Fujita A, Matsumoto N.

Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders.

J Hum Genet. 2025

• Ozaki A, Sakamoto M, Kumada S, Hamada K, Ogata K, Ikezawa J, Tsuchida N, Uchiyama Y, Koshimizu E, Hamanaka K, Fujita A, Miyatake S, Mizuguchi T, Matsumoto N.

Biallelic variants in TNR cause neurodevelopmental disorders with variable expressivity.

J Hum Genet. 2025

• Liang Q, Uchiyama Y, Seyama R, Kuki I, Haginoya K, Shinozaki T, Kato M, Sakamoto M, Tsuchida N, Koshimizu E, Fujita A, Miyatake S, Mizuguchi T, Matsumoto N.

Long-read genomic analyses to elucidate hidden structural variations associated with MECP2 duplication syndrome. 

J Hum Genet. 2025

• Hamanaka K†, Fujita A†, Miyatake S†, Misawa K†, Koshimizu E†, Uchiyama Y†, Tsuchida N, Seyama R, Sakamoto M, Iwama K, Nishimura N, Utsuno Y, Fu L, Takizawa M, Liang Q, Itai T, Saida K, Ohori S, Kameyama S, Fukuda H, Hayashi Y, Inoue Y, Goto T, Ichikawa K, Kuki I, Fukuoka M, Kim K, Shiohama T, Shimoda K, Otsuka K, Ueda Y, Cho K, Yuge K, Tachi N, Yoshida M, Daida A, Hirasawa K, Yanagishita T, Yamamoto T, Shirai K, Mehr TF, Fattal-Valevski A, Lev D, Yokoyama H, Iwabuchi E, Saito Y, Miura M, Sugai K, Ishiyama A, Sasaki M, Watanabe Y, Takanashi JI, Kim CA, Yokochi K, Tohyama J, Mori T, Izumi Y, Hasegawa Y, Okamoto N, Ikeda T, Osaka H, Kawai Y, Omae Y, Tokunaga K, Kato M, Mizuguchi T, Matsumoto N. † equally contributed.

Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay. 

NPJ Genom Med. 10: 60, 2025

• Hayashi Y, Hamada K, Rethanavelu K, Tsuchida N, Uchiyama Y, Koshimizu E, Miyatake S, Mizuguchi T, Ogata K, Fujita A, Matsumoto N. 

Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2. 

J Hum Genet. 70: 649-54, 2025

• 中野将希*, 西村正樹*  * Corresponding author
  ニコチン性アセチルコリン受容体活性化によるBACE1発現調節機構の解明
  神経科学ニュース (Neuroscience Research ハイライト) (3) 18-19, 2025

• 宮武聡子, 松本直通

リピート伸長と転写制御異常：ロングリードシークエンスで明らかになったものを交えて

実験医学増刊 徹底解剖 タンパク質発現異常 疾患の原因が見えてくる！新機構27選　（羊土社）ISBN　9784758104302

2024

• Mitsuishi Y, Nakano M, Kojima H, Okabe T, Nishimura M.
  Reduction of amyloid-β production without inhibiting secretase activity by MS-275.
  ACS Chem Neurosci 2024

2023

• Nakano M*, Tsuchida T, Mitsuishi Y Nishimura M*.  * Corresponding author
  Nicotinic acetylcholine receptor activation induces BACE1 transcription via the phosphorylation and stabilization of nuclear SP1.
  Neuroscience research 2023

• Hata S, Saito H, Kakiuchi T, Fukumoto D, Yamamoto S, Kasuga K, Kimura A, Moteki K, Abe R, Adachi S, Kinoshita S, Yoshizawa-Kumagaye K, Nishio H, Saito T, Saido TC, Yamamoto T, Nishimura M, Taru H, Sobu Y, Ohba H, Nishiyama S, Harada N, Ikeuchi T, Tsukada H, Ouchi Y, Suzuki T.
  Brain p3-Alcβ peptide restores neuronal viability impaired by Alzheimer’s amyloid β-peptide.
  EMBO Mol Med e17052, 2023

2022

• Nakano M, Imamura R, Sugi T, Nishimura M.
  Human FAM3C restores memory-based thermotaxis of Caenorhabditis elegans famp-1/m70.4 loss-of-function mutants.
  PNAS Nexus 1(5):1-11, 2022

• Hibino E, Ichiyama Y, Tsukamura A, Senju Y, Morimune T, Ohji M, Maruo Y, Nishimura M, Mori M.
  Bex1 is essential for ciliogenesis and harbours biomolecular condensate-forming capacity.
  BMC Biol 20:42, 2022

• Watanabe N, Nakano M, Mitsuishi Y, Hara N, Mano T, Iwata A, Murayama S, Suzuki T, Ikeuchi T, Nishimura M.
  Transcriptional downregulation of FAM3C/ILEI in the Alzheimer’s brain.
  Hum Mol Genet 31(1):122-132, 2022

2021

• Nakano M, Mitsuishi Y, Liu L, Watanabe N, Hibino E, Hata S, Saito T, Saido TC, Murayama S, Kasuga K, Ikeuchi T, Suzuki T, Nishimura M.
  Extracellular release of ILEI/FAM3C and amyloid-β is associated with the activation of distinct synapse subpopulations.
  J Alzheimers Dis 80:159-174, 2021

• Morimune T, Tano A, Tanaka Y, Yukiue H, Yamamoto T, Maruo Y, Nishimura M, Tooyama I, Mori M.
  Gm14230 controls Tbc1d24-cytoophidia and neuronal cellular juvenescence.
  PLoS ONE 16(4): e0248517, 2021

• Shahnur A, Nakano M, Ishihara S, Kakuda N, Miyasaka T, Uchiyama H, Shirai Y, Moniruzzaman M, Saito T, Saido TC, Nishimura M, Funamoto S.
  A potential defense mechanism against amyloid deposition in cerebellum.
  Biochem Biophys Res Commun 535:25-32, 2021

2020

• Jam FA, Morimune T, Tsukamura A, Tano A, Tanaka Y, Mori Y, Yamamoto T, Nishimura M, Tooyama I, Mori M.
  Neuroepithelial cell competition triggers loss of cellular juvenescence.
  Sci Rep 10:18044, 2020

• Seita Y, Morimura T, Watanabe N, Iwatani C, Tsuchiya H, Nakamura S, Suzuki T, Yanagisawa D, Tsukiyama T, Nakaya M, Okamura E, Muto M, Ema M, Nishimura M, Tooyama I.
  Generation of transgenic cynomolgus monkeys overexpressing the gene for amyloid-β precursor protein.
  J Alzheimers Dis 75:45-60, 2020

• Hata S, Hu A, Piao Y, Nakaya T, Taru H, Morishima-Kawashima M, Murayama S, Nishimura M, Suzuki T.
  Enhanced amyloid-β generation by γ-secretase complex in detergent-resistant membrane microdomains with reduced cholesterol levels.
  Hum Mol Genet 29(3):382-393, 2020

2019

• Kawatsuki A, Morita S-Y, Watanabe N, Hibino E, Mitsuishi Y, Sugi T, Murayama S, Nishimura M.
  Lipid class composition of membrane and raft fractions from brains of individuals with Alzheimer's disease.
  Biochem Biophys Rep 20:100704, 2019

• Hata S, Omori C, Kimura A, Saito H, Kimura N, Gupta V, Pedrini F, Hone E, Chatterjee P, Taddei K, Kasuga K, Ikeuchi T, Waragai M, Nishimura M, Hu A, Nakaya T, Meijer L, Maeda M, Yamamoto T, Master CL, Rowe C, Ames D, Yamamoto K, Martins RN, Gandy S, Suzuki T.
  Decrease in p3-Alcβ37 and p3-Alcβ40, products of Alcadein β generated by γ-secretase cleavages, in aged monkeys and Alzheimer’s disease patients.
  Alzheimer Dement (NY) 5:740-750, 2019

• Sugi T, Ito H, Nishimura M, Nagai KH.
  C. elegans collectively forms dynamical networks.
  Nat Commun 10: 683, 2019

2018

• Sugi T, Igarashi R, Nishimura M.
  Noninvasive mechanochemical imaging in unconstrained Caenorhabditis elegans.
  Materials 11: 1034, 2018

2016

• Liu L, Watanabe N, Akatsu H, Nishimura M.
  Neuronal expression of ILEI/FAM3C and its reduction in Alzheimer's disease.
  Neuroscience 330: 236-246, 2016

• Seita Y, Tsukiyama T, Iwatani C, Tsuchiya H, Matsushita J, Azami T, Okahara J, Nakamura S, Hayashi Y, Hitoshi S, Itoh Y, Imamura T, Nishimura M, Tooyama I, Miyoshi H, Saitou M, Ogasawara K, Sasaki E, Ema M.
  Generation of transgenic cynomolgus monkeys that express green fluorescent protein throughout the whole body.
  Sci Rep 6: 24868, 2016

• Ochiishi T, Itakura A, Liu L, Akatsu H, Kohno H, Nishimura M, Yoshimune K.
  Immunohistochemical detection of the delayed formation of non-fibrillar large amyloid-β aggregates.
  Genes Cells 21: 200-211, 2016

• 西村正樹. 抗認知症薬剤開発の現状と展望． 総合リハビリテーション 44: 29-34, 2016
  
  

2015

• Liu L, Fujino K, Nishimura M.
  Presynaptic localization of the γ-secretase-inhibiting protein p24α2 in the mammalian brain.
  J Neurochem 133: 422-431, 2015

2014

• Hasegawa H, Liu L, Tooyama I, Murayama S, Nishimura M.
  The FAM3 superfamily member ILEI ameliorates Alzheimer's disease-like pathology by destabilizing the penultimate amyloid-β precursor.
  Nat Commun 5: 3917, 2014

2013

• Han J, Jung S, Jang J, Kam TI, Choi H, Kim BJ, Nah J, Jo DG, Nakagawa T, Nishimura M, Jung YK.
  OCIAD2 activates γ-secretase to enhance amyloid β production by interacting with nicastrin.
  Cell Mol Life Sci 71: 2561-2576, 2014

2012

• Saito Y, Inoue T, ZhuG, Kimura N, Okada M, Nishimura M, Kimura N, Murayama S, Kaneko S, Shigemoto R, Imoto1 K, Suzuki T.
  Hyperpolarization-activated cyclic nucleotide gated channels: a potential molecular link between epileptic seizures and Aβ generation in Alzheimer’s disease.
  Mol Neurodegener 7: 50, 2012

• Nishimura M, Nakamura S, Kimura N, Liu L, Suzuki T, Tooyama I.
  Age-related modulation of γ-secretase activity in non-human primate brains.
  J Neurochem 123: 21-28, 2012

• Matsushima T, Saito Y, Elliott JI, IIjima-Ando K, Nishimura M, Kimura N, Hata S, Yamamoto T, Nakaya T, Suzuki T.
  Membrane-microdomain localization of amyloid β-precursor protein (APP) C-terminal fragments is regulated by phosphorylation of the cytoplasmic Thr668 residue.
  J Biol Chem 287: 19715-19724, 2012

• 西村正樹. γセクレターゼ複合体に作用しAβ産生を制御する内在性タンパク質． Dementia Japan 26: 44-50, 2012
  
  

2011

• Saito T, Suemoto T, Brouwers N, Sleegers K, Funamoto S, Mihira N, Matsuba Y, Yamada K, Nilsson P, Takano J, Nishimura M, Iwata N, Van Broeckhoven C, Ihara Y, Saido TC.
  Potent amyloidogenicity and pathogenicity of Aβ43.
  Nat Neurosci 14(8): 1023-1032, 2011 

• Matsuo A, Bellier JP, Nishimura M, Yasuhara O, Saito N, Kimura H.
  Nuclear choline acetyltransferase activates transcription of a high-affinity choline transporter.
  J Biol Chem 286(7): 5836-5845, 2011 

• Hata S, Fujishige S, Araki Y, Taniguchi M, Urakami K, Peskind E, Akatsu H, Araseki M, Yamamoto K, Martins RN, Maeda M, Nishimura M, Levey A, Chung KA, Montine T, Leverenz J, Fagan A, Goate A, Bateman R, Holtzman DM, Yamamoto T, Nakaya N, Gandy S, Suzuki T.
  Alternative processing of γ-secretase substrates in common forms of mild cognitive impairment and Alzheimer's disease: Evidence for γ-secretase dysfunction.
  Ann Neurol 69(6): 1026-1031, 2011 

• 西村正樹. アルツハイマー病に対するメマンチン治療．医事新報 4537: 62-63, 2011

• 西村正樹. Nicastrin．「認知症学（上）―その解明と治療の最新知見―」 p115-118, 2011
  
  

2010

• Hasegawa H, Liu L, Nishimura M.
  Dilysine retrieval signal-containing p24 proteins collaborate in inhibiting γ-cleavage of amyloid precursor protein.
  J Neurochem 115(3): 771-781, 2010

• Mitsuishi Y, Hasegawa H, Matsuo A, Araki W, Suzuki T, Tagami S, Okochi M, Takeda M, Roepman R, Nishimura M.
  Human CRB2 inhibits γ-secretase cleavage of amyloid precursor protein by binding to the presenilin complex.
  J Biol Chem 285: 14920-14931, 2010

• 西村正樹. γセクレターゼRIPの制御と機能． 脳21 13: 39-45, 2010

2009

• Hata S, Fujishige S, Araki Y, Kato N, Araseki M, Nishimura M, Hartmann D, Saftig P, Fahrenholz F, Taniguchi M, Urakami K, Akatsu H, Martins RN, Yamamoto K, Maeda M, Yamamoto T, Nakaya T, Gandy S, Suzuki T.
  Alcadein cleavages by APP α- and γ-secretases generate small peptides p3-Alcs indicating Alzheimer disease-related γ-secretase dysfunction.
  J Biol Chem 284: 36024-36033, 2009

• Itoh N, Okochi M, Tagami S, Nishitomi K, Nakayama T, Yanagida K, Fukumori A, Jiang J, Mori K, Hosono M, Kikuchi J, Nakano Y, Takinami Y, Dohi K, Nishigaki A, Takemoto H, Minagawa K, Katoh T, Willem M, Haass C, Morihara T, Tanaka T, Kudo T, Hasegawa H, Nishimura M, Sakaguchi G, Kato A, Takeda M.
  Destruxin E decreases β-amyloid generation by reducing colocalization of β-amyloid-cleaving enzyme 1 and β-amyloid protein precursor.
  Neurodegener Dis 6: 230-239, 2009

• 長谷川浩史, 西村正樹. アルツハイマー病研究の最新知見． 脳神経外科速報 19: 791-799, 2009
  
  

2008

• Hasegawa H, Nishimura M. γ-Secretase complex: core components and modulators. In "Recent Advances in the Biology of Secretases, Key Proteases in Alzheimer Disease", ed. Araki W, Research Signpost p133-150, 2008 

• 西村正樹. アルツハイマー病の病理・病態　家族性アルツハイマー病の原因遺伝子　プレセニリン．「アルツハイマー病」平井俊策編、日本臨床社　p144-149, 2008

• 西村正樹，長谷川浩史. 神経系とregulated intramembrane proteolysis. Regulated intramembrane proteolysisとγセクレターゼ． Cognition and Dementia 7: 14-22, 2008
  
  

2007

• Rogaeva E, Meng Y, Lee JH, Gu Y, Kawarai T, Zou F, Katayama T, Baldwin CT, Cheng R, Hasegawa H, Chen F, Shibata N, Lunetta KL, Pardossi-Piquard R, Bohm C, Wakutani Y, Cupples LA, Cuenco KT, Green RC, Pinessi L, Rainero I, Sorbi S, Bruni A, Duara R, Friedland RP, Inzelberg R, Hampe W, Bujo H, Song YQ, Andersen OM, Willnow TE, Graff-Radford N, Petersen RC, Dickson D, Der SD, Fraser PE, Schmitt-Ulms G, Younkin S, Mayeux R, Farrer LA, St George-Hyslop P. The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease. Nat Genet 39:168-177, 2007
  
  

2006

• Shiraishi H, Marutani T, Wang HQ, Maeda Y, Kurono Y, Takashima A, Araki W, Nishimura M, Yanagisawa K, Komano H. Reconstitution of γ-cleavage by truncated presenilin (PS) fragments revealed that PS C-terminal transmembrane domain is critical for formation of γ-secretase complex. Genes Cells 11:83-93, 2006

• Chen F, Hasegawa H, Schmitt-Ulms G, Kawarai T, Bohm C, Katayama T, Gu Y, Sanjo N, Glista M, Rogaeva E, Wakutani Y, Pardossi-Piquard R, Ruan X, Tandon A, Checler F, Marambaud P, Hansen K, Westaway D, St George-Hyslop P, Fraser P. TMP21 is a presenilin complex component that modulates γ-secretase but not ε-secretase activity. Nature 440:1208-1212, 2006
  
  

2005

• Wang HQ, Nakaya Y, Du Z, Yamane T, Shirane M, Kudo T, Takeda M, Takebayashi K, Noda Y, Nakayama KI, Nishimura M. Interaction of presenilins with FKBP38 promotes apoptosis by reducing mitochondrial Bcl-2. Hum Mol Genet 14: 1889-1902, 2005

• Nakaya Y, Yamane T, Shiraishi H, Wang HQ, Matsubara E, Sato T, Dolios G, Wang R, De Strooper B, Shoji M, Komano H, Yanagisawa K, Ihara Y, Fraser P, St George-Hyslop P, Nishimura M. Random mutagenesis of presenilin 1 identifies novel mutants exclusively generating long amyloid β peptides. J Biol Chem 280: 19070-19077, 2005

• Petit A, Kawarai T, Paitel E, Sanjo N, Maj M, Scheid M, Chen F, Gu Y, Hasegawa H, Salehi-Rad S, Wang L, Rogaeva E, Fraser P, Robinson B, St George-Hyslop P, Tandon A. Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations. J Biol Chem280:34025-34032, 2005

• 西村正樹.プレセニリン１のランダム変異導入によって同定された長鎖アミロイドβのみを生成する新規変異体．Cognition and Dementia 4: 64-65, 2005
  
  

2004

• Shiraishi H, Sai X, Wang HQ, Maeda Y, Kurono Y, Nishimura M, Yanagisawa K, Komano H. PEN-2 enhances γ-cleavage after presenilin heterodimer formation.  J Neurochem 90: 1402-1413, 2004

• Araki Y, Miyagi N, Kato N, Yoshida T, Wada S, Nishimura M, Komano H, Yamamoto T, De Strooper B, Yamamoto K, Suzuki T. Coordinated metabolism of Alcadein and amyloid β-protein precursor regulates FE65-dependent gene transactivation.  J Biol Chem 279: 24343-24354, 2004

• Hasegawa H, Sanjo N, Chen F, Gu YJ, Shier C, Petit A, Kawarai T, Katayama T, Schmidt SD, Mathews PM, Schmitt-Ulms G, Fraser PE, St George-Hyslop P. Both the sequence and length of the C terminus of PEN-2 are critical for intermolecular interactions and function of presenilin complexes. J Biol Chem 279:46455-46463, 2004

• Gu Y, Sanjo N, Chen F, Hasegawa H, Petit A, Ruan X, Li W, Shier C, Kawarai T, Schmitt-Ulms G, Westaway D, St George-Hyslop P, Fraser PE. The presenilin proteins are components of multiple membrane-bound complexes that have different biological activities. J Biol Chem 279:31329-31336, 2004

• 西村正樹. βアミロイドの生成阻害による治療．「神経内科の最新医療」金澤一郎・柴崎　浩・東儀英夫編、先端医療技術研究所　p98-102, 2004

• 西村正樹. Alzheimer病: Aβの生成抑制による治療戦略．最新医学 59: 1574-1580, 2004

• 西村正樹．Aβの産生とその調節メカニズム．Molecular Medicine 41: 409-415, 2004

• 西村正樹．βおよびγセクレターゼを標的としたAlzheimer病の分子治療．医学のあゆみ 208: 443-448, 2004
  
  

2003

• Wang HQ, Takebayashi K, Tsuchida K, Nishimura M, Noda Y. Follistatin-related gene (FLRG) expression in human endometrium: sex steroid hormones regulate the expression of FLRG in cultured human endometrial stromal cells.  J Clin Endocrinol Metab 88: 4432-4439, 2003

• Chen F, Tandon A, Sanjo N, Gu YJ, Hasegawa H, Arawaka S, Lee FJ, Ruan X, Mastrangelo P, Erdebil S, Wang L, Westaway D, Mount HT, Yankner B, Fraser PE, St George-Hyslop P. Presenilin 1 and presenilin 2 have differential effects on the stability and maturation of nicastrin in Mammalian brain. J Biol Chem 278:19974-19979, 2003 

• Gu Y, Chen F, Sanjo N, Kawarai T, Hasegawa H, Duthie M, Li W, Ruan X, Luthra A, Mount HT, Tandon A, Fraser PE, St George-Hyslop P. APH-1 interacts with mature and immature forms of presenilins and nicastrin and may play a role in maturation of presenilin.nicastrin complexes. J Biol Chem 278:7374-7380, 2003

• Tandon A, Yu H, Wang L, Rogaeva E, Sato C, Chishti MA, Kawarai T, Hasegawa H, Chen F, Davies P, Fraser PE, Westaway D, St George-Hyslop PH. Brain levels of CDK5 activator p25 are not increased in Alzheimer's or other neurodegenerative diseases with neurofibrillary tangles. J Neurochem 86:572-581, 2003
  
  

2002

• Rozmahel R, Huang J, Chen F, Liang Y, Nguyen V, Ikeda M, Levesque G, Yu G, Nishimura M, Mathews P, Schmidt SD, Mercken M, Bergeron C, Westaway D, St George-Hyslop P. Normal brain development in PS1 hypomorphic mice with markedly reduced γ-secretase cleavage of βAPP.  Neurobiol Aging 23: 187-194, 2002

• Chen F, Yu G, Arawaka S, Nishimura M, Kawarai T, Yu H, Tandon A, Supala A, Song YQ, Rogaeva E, Milman P, Sato C, Yu C, Janus C, Lee J, Song L, Zhang L, Fraser PE, St George-Hyslop PH. Further analysis of the nicastrin:presenilin complex. in "Notch from neurodevelopment to neurodegeneration: Keeping the fate" eds. Israel A, De Strooper B, Checler F, Christen Y. Springer-Verlag Berlin Heidelberg, p109-117, 2002

• Arawaka S, Hasegawa H, Tandon A, Janus C, Chen F, Yu G, Kikuchi K, Koyama S, Kato T, Fraser PE, St George-Hyslop P. The levels of mature glycosylated nicastrin are regulated and correlate with gamma-secretase processing of amyloid beta-precursor protein. J Neurochem 83:1065-1071, 2002

• Rozmahel R, Mount HT, Chen F, Nguyen V, Huang J, Erdebil S, Liauw J, Yu G, Hasegawa H, Gu Y, Song YQ, Schmidt SD, Nixon RA, Mathews PM, Bergeron C, Fraser P, Westaway D, St George-Hyslop P. Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype. Proc Natl Acad Sci U S A 99:14452-14457, 2002

• Chen F, Gu Y, Hasegawa H, Ruan X, Arawaka S, Fraser P, Westaway D, Mount H, St George-Hyslop P. Presenilin 1 mutations activate gamma 42-secretase but reciprocally inhibit epsilon-secretase cleavage of amyloid precursor protein (APP) and S3-cleavage of notch. J Biol Chem 277:36521-36526, 2002

• Yang DS, Tandon A, Chen F, Yu G, Yu H, Arawaka S, Hasegawa H, Duthie M, Schmidt SD, Ramabhadran TV, Nixon RA, Mathews PM, Gandy SE, Mount HT, St George-Hyslop P, Fraser PE. Mature glycosylation and trafficking of nicastrin modulate its binding to presenilins. J Biol Chem 277:28135-28142, 2002
  
  

2001

• Chen F, Yu G, Arawaka S, Nishimura M, Kawarai T, Yu H, Tandon A, Supala A, Song YQ, Rogaeva E, Milman P, Sato C, Yu C, Janus C, Lee J, Song L, Zhang L, Fraser PE, St George-Hyslop PH. Nicastrin binds to membrane-tethered Notch. Nature Cell Biol 3: 751-754, 2001

• Fraser PE, Yu G, Levesque L, Nishimura M, Yang DS, Mount HT, Westaway D, St George-Hyslop PH. Presenilin function: connections to Alzheimer's disease and signal transduction.  Biochem Soc Symp (67):89-1006, 2001

• 西村正樹．Alzheimer病プレセニリン-ニカストリン複合体とγセクレターゼ．医学のあゆみ 198: 369-372, 2001

• 西村正樹．Nicastrin as a component of presenilin complexes.  Dementia Japan 15: 64-67, 2001
  
  

2000

• Chen F, Yang DS, Petanceska S, Yang A, Tandon A, Yu G, Rozmahel R, Ghiso J, Nishimura M, Zhang DM, Kawarai T, Levesque G, Mills J, Levesque L, Song YQ, Rogaeva E, Westaway D, Mount H, Gandy S, St George-Hyslop P, Fraser PE. Carboxyl-terminal fragments of Alzheimer β-amyloid precursor protein accumulate in restricted and unpredicted intracellular compartments in presenilin 1 deficient cells. J Biol Chem 275: 36794-36802, 2000 

• Yu G*, Nishimura M*, Arawaka S, Levitan D, Zhang L, Tandon A, Song YQ, Rogaeva E, Chen F, Kawarai T, Supala A, Levesque L, Yu H, Yang DS, Holmes E, Milman P, Liang Y, Zhang DM, Xu DH, Sato C, Rogaev E, Smith M, Janus C, Zhang Y, Aebersold R, Farrer L, Sorbi S, Bruni A, Fraser PE, St George-Hyslop P. Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and βAPP processing.  Nature 407: 48-54, 2000

• Zhang DM, Levitan D, Yu G, Nishimura M, Chen F, Tandon A, Kawarai T, Arawaka S, Supala A, Song YQ, Rogaeva E, Liang Y, Holmes E, Milman P, Sato C, Zhang L, St George-Hyslop P. Mutation of the conserved N-terminal cysteine (Cys92) of human presenilin 1 causes increased Aβ42 secretion in mammalian cells but impaired Notch/lin-12 signalling in C. elegans.  Neuroreport 11:3227-3230, 2000

• Yu G, Chen F, Nishimura M, Steiner H, Tandon A, Kawarai T, Arawaka S, Supala A, Song YQ, Rogaeva E, Holmes E, Zhang DM, Milman P, Fraser PE, Haass C, St George-Hyslop P. Mutation of conserved aspartates affect maturation of both aspartate-mutant and endogenous presenilin 1 and presenilin 2 complexes.  J Biol Chem 275: 27348-27353, 2000

• Van Gassen G, De Jonghe C, Nishimura M, Yu G, Kuhn S, St George-Hyslop P, Van Broeckhoven C. Evidence that the β-catenin nuclear translocation assay allows for measuring presenilin 1 dysfunction.  Mol Med 6: 570-580, 2000

• Fraser PE, Yang D, Yu G, Levesque L, Nishimura M, Arawaka S, Serpell LC, Rogaeva E, St George-Hyslop P. Presenilin structure, function and role in Alzheimer disease.  Biochim Biophys Acta 1502: 1-15, 2000
  
  

1999

• Nishimura M, Yu G, Levesque G, Zhang DM, Ruel L, Chen F, Milman P, Holmes E, Liang Y, Kawarai T, Jo E, Supala A, Rogaeva E, Xu DM, Janus C, Levesque L, Bi Q, Duthie M, Rozmahel R, Mattila K, Lannfelt L, Westaway D, Mount HT, Woodgett J, Fraser PE, St George-Hyslop P. Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of β-catenin, a component of the presenilin protein complex.  Nature Med 5: 164-169, 1999 

• Rogaeva EA, Premkumar S, Grubber J, Serneels L, Scott WK, Kawarai T, Song Y, Hill DM, Abou-Donia SM, Martin ER, Vance JJ, Yu G, Orlacchio A, Pei Y, Nishimura M, Supala A, Roberge B, Saunders AM, Roses AD, Schmechel D, Crane-Gatherum A, Sorbi S, Bruni A, Small GW, Conneally PM, Haines JL, Leuven FV, St George-Hyslop PH, Farrer LA, Pericak-Vance MA. An α-2-macroglobulin insertion-deletion polymorphism in Alzheimer disease.  Nature Genet 22: 19-20, 1999

• Levesque G, Yu G, Nishimura M, Zhang DM, Levesque L, Yu H, Xu D, Liang Y, Rogaeva E, Ikeda M, Duthie M, Murgolo N, Wang L, VanderVere P, Bayne ML, Strader CD, Rommens JM, Fraser PE, St George-Hyslop P. Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and β-catenin.  J Neurochem 72: 999-1008, 1999 

• Akiguchi I, Tomimoto H, Kinoshita M, Wakita H, Osaki A, Nishimura M, Kimura J. Effects of antithrombin on Binswanger's disease with antiphospholipid antibody syndrome.  Neurology 52: 398-401, 1999 

• Ohtake T, Nishimura M, Oda M. Multifocal polyradiculoneuropathy and carcinoma of the thymus.  J Neurol Sci 168: 62-67, 1999

• Nishimura M, Yu G, St George-Hyslop PH. Biology of presenilins as causative molecules for Alzheimer disease.  Clin Genet 55: 219-225, 1999

• 西村正樹．プレセニリン，タフ ガイ．Dementia Japan 13: 158-163, 1999
  
  

1998

• Rogaeva E, Premkumar S, Song Y, Sorbi S, Brindle N, Paterson A, Duara R, Levesque G, Yu G, Nishimura M, Ikeda M, O'Toole C, Kawarai T, Jorge R, Vilarino D, Bruni AC, Farrer LA, St George-Hyslop PH. Evidence for an Alzheimer disease susceptibility locus on chromosome 12 and for further locus heterogeneity.  JAMA280: 614-618, 1998 

• Song YQ, Rogaeva E, Premkumar S, Brindle N, Kawarai T, Orlacchio A, Yu G, Levesque G, Nishimura M, Ikeda M, Pei Y, O'Toole C, Duara R, Barker W, Sorbi S, Freedman M, Farrer L, St George-Hyslop P. Absence of association between Alzheimer disease and the -491 regulatory region polymorphism of APOE.  Neurosci Lett 250: 189-192, 1998 

• Yu G, Chen F, Levesque G, Nishimura M, Zhang DM, Levesque L, Rogaeva E, Xu D, Liang Y, Duthie M, St George-Hyslop PH, Fraser PE. The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains β-catenin. J Biol Chem 273: 16470-16475, 1998 

• Brindle N, Song Y, Rogaeva E, Premkumar S, Levesque G, Yu G, Ikeda M, Nishimura M, Paterson A, Sorbi S, Duara R, Farrer L, St George-Hyslop P. Analysis of the butyrylcholinesterase gene and nearby chromosome 3 markers in Alzheimer disease.  Hum Mol Genet 7: 933-935, 1998 

• Fraser PE, Yu G, Levesque G, Ikeda M, Nishimura M, Rogaeva, E, Westaway D, St George-Hyslop PH, Carlson GA. Molecular genetics of the presenilins in Alzheimer's disease. In "Presenilins and Alzheimer's disease" eds. Younkin SG, Tanzi RE, Christen Y. Springer-Verlag p1-10, 1998