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研究業績詳細

舩山 学(フナヤマ マナブ)

研究テーマ 神経変性疾患の分子遺伝学研究
研究業績(論文) 1. Okuzumi A, Hatano T, Matsumoto G, Nojiri S, Ueno SI, Imamichi-Tatano Y, Kimura H, Kakuta S, Kondo A, Fukuhara T, Li Y, Funayama M, Saiki S, Taniguchi D, Tsunemi T, McIntyre D, Gérardy JJ, Mittelbronn M, Kruger R, Uchiyama Y, Nukina N, Hattori N. Propagative α-synuclein seeds as serum biomarkers for synucleinopathies. Nat Med. 2023, in press 査読あり.
2. Vollstedt EJ, Schaake S, Lohmann K, Padmanabhan S, Brice A, Lesage S, Tesson C, Vidailhet M, Wurster I, Hentati F, Mirelman A, Giladi N, Marder K, Waters C, Fahn S, Kasten M, Brüggemann N, Borsche M, Foroud T, Tolosa E, Garrido A, Annesi G, Gagliardi M, Bozi M, Stefanis L, Ferreira JJ, Correia Guedes L, Avenali M, Petrucci S, Clark L, Fedotova EY, Abramycheva NY, Alvarez V, Menéndez-González M, Jesús Maestre S, Gómez-Garre P, Mir P, Belin AC, Ran C, Lin CH, Kuo MC, Crosiers D, Wszolek ZK, Ross OA, Jankovic J, Nishioka K, Funayama M, Clarimon J, Williams-Gray CH, Camacho M, Cornejo-Olivas M, Torres-Ramirez L, Wu YR, Lee-Chen GJ, Morgadinho A, Pulkes T, Termsarasab P, Berg D, Kuhlenbäumer G, Kühn AA, Borngräber F, de Michele G, De Rosa A, Zimprich A, Puschmann A, Mellick GD, Dorszewska J, Carr J, Ferese R, Gambardella S, Chase B, Markopoulou K, Satake W, Toda T, Rossi M, Merello M, Lynch T, Olszewska DA, Lim SY, Ahmad-Annuar A, Tan AH, Al-Mubarak B, Hanagasi H, Koziorowski D, Ertan S, Genç G, de Carvalho Aguiar P, Barkhuizen M, Pimentel MMG, Saunders-Pullman R, van de Warrenburg B, Bressman S, Toft M, Appel-Cresswell S, Lang AE, Skorvanek M, Boon AJW, Krüger R, Sammler EM, Tumas V, Zhang BR, Garraux G, Chung SJ, Kim YJ, Winkelmann J, Sue CM, Tan EK, Damásio J, Klivényi P, Kostic VS, Arkadir D, Martikainen M, Borges V, Hertz JM, Brighina L, Spitz M, Suchowersky O, Riess O, Das P, Mollenhauer B, Gatto EM, Petersen MS, Hattori N, Wu RM, Illarioshkin SN, Valente EM, Aasly JO, Aasly A, Alcalay RN, Thaler A, Farrer MJ, Brockmann K, Corvol JC, Klein C*. MJFF Global Genetic Parkinson's Disease Study Group. Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort. Mov Disord, 38(2):286-303, 2023. 査読あり.
3. Peng H, Li Y, Yoshino H, Shimizu M, Nishioka K, Funayama M, Hattori N*. Analysis of LIN28A variants in patients with Parkinson’s disease. J Hum Genet, 68(5):329-331, 2023. 査読あり.
4. Tezuka T, Taniguchi D, Sano M, Shimada T, Oji Y, Tsunemi T, Ikeda A, Li Y, Yoshino H, Ogata J, Shiba-Fukushima K, Funayama M, Nishioka K, Imai Y*, Hattori N*. Pathophysiological evaluation of the LRRK2 G2385R risk variant for Parkinson’s disease. npj Parkinson's Disease, 8: 97, 2022. 査読あり.
5. Daida K, Shimonaka S, Shiba-Fukushima K, Ogata J, Yoshino H, Okuzumi A, Hatano T, Motoi Y, Hirunagi T, Katsuno M, Shindou H, Funayama M, Nishioka K, Imai Y*, Hattori N*. α-Synuclein V15A variant in familial Parkinson's disease exhibits a weaker lipid-binding property. Mov Disord, 37(10):2075-2085, 2022. 査読あり.
6. Kamo H, Oyama G*, Nishioka K, Funayama M, Hattori N. Deep brain stimulation for a patient with familial Parkinson's disease harboring CHCHD2 p.T61I. Mov Disord Clin Pract, 9(3): 407–409, 2022. 査読あり.
7. Yoshino H, Li Y, Nishioka K, Daida K, Hayashida A, Ishiguro Y, Yamada D, Izawa N, Nishi K, Nishikawa N, Oyama G, Hatano T, Nakamura S, Yoritaka A, Motoi Y, Funayama M, Nishioka K*, Hattori N*. investigators of Japan Parkinson disease genetic study. Genotype-phenotype correlation of Parkinson's disease with PRKN variants. Neurobiol Aging, S0197-4580(21)00371-7, 2022. 査読あり.
8. Daida K, Nishioka Y, Li Y, Yoshino H, Funayama M, Hattori N, Nishioka K*. A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene. eNeurologicalSci, 100391, 2021. 査読あり.
9. Sakai SS, Hasegawa A, Ishimura R, Tamura N, Kageyama S, Komatsu-Hirota S, Abe M, Ling Y, Okuda S, Funayama M, Kikkawa M, Miura Y, Sakimura K, Narita I, Waguri S, Shimizu R, Komatsu M*. Loss of Atg2b and Gskip impairs the maintenance of the hematopoietic stem cell pool size. Mol Cell Biol, 42(1):e0002421, 2021. 査読あり.
10. Grapotte M, Saraswat M, Bessière C, Menichelli C, Ramilowski JA, Severin J, Hayashizaki Y, Itoh M, Tagami M, Murata M, Kojima-Ishiyama M, Noma S, Noguchi S, Kasukawa T, Hasegawa A, Suzuki H, Nishiyori-Sueki H, Frith MC; FANTOM consortium, Chatelain C, Carninci P, de Hoon MJL, Wasserman WW, Bréhélin L*, Lecellier CH*. Discovery of widespread transcription initiation at microsatellites predictable by sequence-based deep neural network. Nat Commun, 12(1):3297, 2021. 査読あり.
11. Ishiguro M, Yoshino H, Li Y, Ikeda A, Funayama M, Nishioka K*, Hattori N. Genetic analysis of ATP10B for Parkinson’s disease in Japan. Parkinsonism Relat Disord, 88:10-12, 2021. 査読あり.
12. Sato S, Noda S, Torii S, Amo T, Ikeda A, Funayama M, Yamaguchi J, Fukuda T, Kondo H, Tada N, Arakawa S, Watanabe M, Uchiyama Y, Shimizu S, Hattori N*. Homeostatic p62 levels and inclusion body formation in CHCHD2 knockout mice. Hum Mol Genet, 30:443-453, 2021. 査読あり.
13. Ishiguro M, Li Y, Yoshino H, Daida K, Ishiguro Y, Oyama G, Saiki S, Funayama M, Hattori N, Nishioka K*. Clinical manifestations of Parkinson's disease harboring VPS35 retromer complex component p.D620N with long-term follow-up. Parkinsonism Relat Disord, 84:139-143, 2021. 査読あり.
14. Daida K, Nishioka K*, Li Y, Yoshino H, Shimada T, Dougu N, Nakatsuji Y, Ohara S, Hashimoto T, Okiyama R, Yokochi F, Suzuki C, Tomiyama M, Kimura K, Ueda N, Tanaka F, Yamada H, Fujioka S, Tsuboi Y, Uozumi T, Takei T, Matsuzaki S, Shibasaki M, Kashihara K, Kurisaki R, Yamashita T, Fujita N, Hirata Y, Ii Y, Wada C, Eura N, Sugie K, Higuchi Y, Kojima F, Imai H, Noda K, Shimo Y, Funayama M, Hattori N. PLA2G6 variants associated with the number of affected alleles in Parkinson's disease in Japan. Neurobiol Aging, 97:147.e1-147.e9, 2021. 査読あり.
15. Hayashida A, Li Y, Yoshino H, Daida K, Ikeda A, Ogaki K, Fuse A, Mori A, Takanashi M, Nakahara T, Yoritaka A, Tomizawa Y, Furukawa Y, Kanai K, Nakayama Y, Ito H, Ogino M, Hattori Y, Hattori T, Ichinose Y, Takiyama Y, Saito T, Kimura T, Aizawa H, Shoji H, Mizuno Y, Matsushita T, Sato M, Sekijima Y, Morita M, Iwasaki A, Kusaka H, Tada M, Tanaka F, Sakiyama Y, Fujimoto T, Nagara Y, Kashihara K, Todo H, Nakao K, Tsuruta K, Yoshikawa M, Hara H, Yokote H, Murase N, Nakamagoe K, Tamaoka A, Takamiya M, Morimoto N, Nokura K, Kako T, Funayama M, Nishioka K, Hattori N*. The identified clinical features of Parkinson's disease in homo-, heterozygous and digenic variants of PINK1. Neurobiol Aging, 97:146.e1-146.e13, 2021. 査読あり.
16. Daida K, Funayama M*, Li Y, Yoshino H, Hayashida A, Ikeda A, Ogaki K, Nishioka K, Hattori N. Identification of disease-associated variants by targeted gene panel resequencing in Parkinson’s disease. Front Neurol, 11:576465, 2020. 査読あり.
17. Lin CH, Tsai PI, Lin HY, Hattori N, Funayama M, Jeon B, Sato K, Abe, K, Mukai Y, Takahashi Y, Li Y, Nishioka K, Yoshino H, Daida K, Chen ML, Cheng J, Huang CY, Tzeng SR, Wu YS, Lai HJ, Tsai HH, Yen RF, Lee NC, Lo WC, Hung YC, Chan CC, Ke YC, Chao CC, Hsieh ST, Farrer MJ, Wu RM*. Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism. Brain, 143(11):3352-3373, 2020. 査読あり.
18. Yamaguchi A, Ishikawa KI, Inoshita T, Shiba-Fukushima K, Saiki S, Hatano T, Mori A, Oji Y, Okuzumi A, Li Y, Funayama M, Imai Y, Hattori N, Akamatsu W*. Identifying Therapeutic Agents for Amelioration of Mitochondrial Clearance Disorder in Neurons of Familial Parkinson Disease. Stem cell reports, 14, 1060-1075, 2020. 査読あり.
19. Li Y, Ikeda A, Yoshino H, Oyama G, Kitani M, Daida K, Hayashida A, Ogaki K, Yoshida K, Kimura T, Nakayama Y, Ito H, Sugeno N, Aoki M, Miyajima H, Kimura K, Ueda N, Watanabe M, Urabe T, Takanashi M, Funayama M, Nishioka N*, Hattori N*. Clinical characterization of patients with leucine-rich repeat kinase 2 genetic variants in Japan. Journal of human genetics, 65, 771-781, 2020. 査読あり.
20. Takeshige-Amano H, Saiki S, Fujimaki M, Ueno SI, Li Y, Hatano T, Ishikawa KI, Oji Y, Mori A, Okuzumi A, Tsunemi T, Daida K, Ishiguro Y, Imamichi Y, Nanmo H, Nojiri S, Funayama M, Hattori N. Shared Metabolic Profile of Caffeine in Parkinsonian Disorders Mov Disord, 35(8):1438-1447, 2020. 査読あり.
21. Oji Y, Hatano T, Ueno SI, Funayama M, Ishikawa KI, Okuzumi A, Noda S, Sato S, Satake W, Toda T, Li Y, Hino-Takai T, Kakuta S, Tsunemi T, Yoshino H, Nishioka K, Hattori T, Mizutani Y, Mutoh T, Yokochi F, Ichinose Y, Koh K, Shindo K, Takiyama Y, Hamaguchi T, Yamada M, Farrer MJ, Uchiyama Y, Akamatsu W, Wu YR, Matsuda J, Hattori N*. Variants in saposin D domain of prosaposin gene linked to Parkinson's disease. Brain, 143, 1190-1205, 2020. 査読あり.
22. Ikeda A, Nishioka K, Meng H, Takanashi M, Inoshita T, Shiba-Fukushima K, Li Y, Yoshino H, Mori A, Okuzumi A, Yamaguchi A, Nonaka R, Izawa N, Ishikawa KI, Saiki H, Morita M, Hasegawa M, Hasegawa K1, Elahi M, Funayama M, Okano H, Akamatsu W, Imai Y*, Hattori N*. Mutations in CHCHD2 cause α-synuclein aggregation. Human Molecular Genetics, 28, 3895-3911, 2019. 査読あり.
23. Daida K, Nishioka K*, Li Y, Yoshino H, Kikuchi A, Hasegawa T, Funayama M, Hattori N*. Mutation analysis of LRP10 in Japanese patients with familial Parkinson's disease, progressive supranuclear palsy, and frontotemporal dementia. Neurobiol Aging, 84, 235.e11-235.e16, 2019. 査読あり.
24. Lee JS*, Kanai K, Suzuki M, Kim WS, Yoo HS, Fu Y, Kim DK, Jung BC, Choi M, Oh KW, Li Y, Nakatani M, Nakazato T, Sekimoto S, Funayama M, Yoshino H, Kubo SI, Nishioka K, Sakai R, Ueyama M, Mochizuki H, Lee HJ, Sardi SP, Halliday GM, Nagai Y, Lee PH, Hattori N, Lee SJ*. Arylsulfatase A, a genetic modifier of Parkinson's disease, is an α-synuclein chaperone. Brain, 142, 2845-2859, 2019. 査読あり.
25. Ikeda A, Shimada H, Nishioka K, Takanashi M, Hayashida A, Li Y, Yoshino H, Funayama M, Ueno Y, Hatano T, Sahara N, Suhara T, Higuchi M*, Hattori N*, Clinical heterogeneity of FTDP-17 caused by MAPT N279K mutation in relation to tau PET features. Mov Disord, 34, 568-574, 2019. 査読あり.
26. Saiki S*, Sasazawa Y, Fujimaki M, Kamagata K, Kaga N, Taka H, Li Y, Souma S, Hatano T, Imamichi Y, Furuya N, Mori A, Oji Y, Ueno SI, Nojiri S, Miura Y, UenoT, Funayama M, Aoki S, Hattori N*. A metabolic profile of polyamines in Parkinson’s disease: a promising biomarker. Ann Neurol, 86, 251-263, 2019. 査読あり.

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