Molecular genetics of Parkinson’s disease: Contributions and global trends

por Funayama, Manabu, Nishioka, Kenya, Li, Yuanzhe, Hattori, Nobutaka
Publicado 2022

Clinical Manifestations and Molecular Backgrounds of Parkinson's Disease Regarding Genes Identified From Familial and Population Studies

por Nishioka, Kenya, Imai, Yuzuru, Yoshino, Hiroyo, Li, Yuanzhe, Funayama, Manabu, Hattori, Nobutaka
Publicado 2022

A complex form of hereditary spastic paraplegia harboring a novel variant, p.W1515*, in the SPG11 gene

por Daida, Kensuke, Nishioka, Yosuke, Li, Yuanzhe, Yoshino, Hiroyo, Funayama, Manabu, Hattori, Nobutaka, Nishioka, Kenya
Publicado 2022

Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations

por Takanashi, Masashi, Funayama, Manabu, Matsuura, Eiji, Yoshino, Hiroyo, Li, Yuanzhe, Tsuyama, Sho, Takashima, Hiroshi, Nishioka, Kenya, Hattori, Nobutaka
Publicado 2018

Identification of Disease-Associated Variants by Targeted Gene Panel Resequencing in Parkinson's Disease

por Daida, Kensuke, Funayama, Manabu, Li, Yuanzhe, Yoshino, Hiroyo, Hayashida, Arisa, Ikeda, Aya, Ogaki, Kotaro, Nishioka, Kenya, Hattori, Nobutaka
Publicado 2020

Loss of Parkinson's disease-associated protein CHCHD2 affects mitochondrial crista structure and destabilizes cytochrome c

por Meng, Hongrui, Yamashita, Chikara, Shiba-Fukushima, Kahori, Inoshita, Tsuyoshi, Funayama, Manabu, Sato, Shigeto, Hatta, Tomohisa, Natsume, Tohru, Umitsu, Masataka, Takagi, Junichi, Imai, Yuzuru, Hattori, Nobutaka
Publicado 2017

Clinical heterogeneity of frontotemporal dementia and Parkinsonism linked to chromosome 17 caused by MAPT N279K mutation in relation to tau positron emission tomography features

por Ikeda, Aya, Shimada, Hitoshi, Nishioka, Kenya, Takanashi, Masashi, Hayashida, Arisa, Li, Yuanzhe, Yoshino, Hiroyo, Funayama, Manabu, Ueno, Yuji, Hatano, Taku, Sahara, Naruhiko, Suhara, Tetsuya, Higuchi, Makoto, Hattori, Nobutaka
Publicado 2019

Identifying Therapeutic Agents for Amelioration of Mitochondrial Clearance Disorder in Neurons of Familial Parkinson Disease

por Yamaguchi, Akihiro, Ishikawa, Kei-ichi, Inoshita, Tsuyoshi, Shiba-Fukushima, Kahori, Saiki, Shinji, Hatano, Taku, Mori, Akio, Oji, Yutaka, Okuzumi, Ayami, Li, Yuanzhe, Funayama, Manabu, Imai, Yuzuru, Hattori, Nobutaka, Akamatsu, Wado
Publicado 2020

Pathophysiological evaluation of the LRRK2 G2385R risk variant for Parkinson’s disease

por Tezuka, Toshiki, Taniguchi, Daisuke, Sano, Mariko, Shimada, Tomoyo, Oji, Yutaka, Tsunemi, Taiji, Ikeda, Aya, Li, Yuanzhe, Yoshino, Hiroyo, Ogata, Jun, Shiba-Fukushima, Kahori, Funayama, Manabu, Nishioka, Kenya, Imai, Yuzuru, Hattori, Nobutaka
Publicado 2022

α‐Synuclein V15A Variant in Familial Parkinson's Disease Exhibits a Weaker Lipid‐Binding Property

por Daida, Kensuke, Shimonaka, Shotaro, Shiba‐Fukushima, Kahori, Ogata, Jun, Yoshino, Hiroyo, Okuzumi, Ayami, Hatano, Taku, Motoi, Yumiko, Hirunagi, Tomoki, Katsuno, Masahisa, Shindou, Hideo, Funayama, Manabu, Nishioka, Kenya, Hattori, Nobutaka, Imai, Yuzuru
Publicado 2022

ABCG2 variant has opposing effects on onset ages of Parkinson's disease and gout

por Matsuo, Hirotaka, Tomiyama, Hiroyuki, Satake, Wataru, Chiba, Toshinori, Onoue, Hiroyuki, Kawamura, Yusuke, Nakayama, Akiyoshi, Shimizu, Seiko, Sakiyama, Masayuki, Funayama, Manabu, Nishioka, Kenya, Shimizu, Toru, Kaida, Kenichi, Kamakura, Keiko, Toda, Tatsushi, Hattori, Nobutaka, Shinomiya, Nariyoshi
Publicado 2015

Serum caffeine and metabolites are reliable biomarkers of early Parkinson disease

por Fujimaki, Motoki, Saiki, Shinji, Li, Yuanzhe, Kaga, Naoko, Taka, Hikari, Hatano, Taku, Ishikawa, Kei-Ichi, Oji, Yutaka, Mori, Akio, Okuzumi, Ayami, Koinuma, Takahiro, Ueno, Shin-Ichi, Imamichi, Yoko, Ueno, Takashi, Miura, Yoshiki, Funayama, Manabu, Hattori, Nobutaka
Publicado 2018

Loss of Atg2b and Gskip Impairs the Maintenance of the Hematopoietic Stem Cell Pool Size

por Sakai, Shun-suke, Hasegawa, Atsushi, Ishimura, Ryosuke, Tamura, Naoki, Kageyama, Shun, Komatsu-Hirota, Satoko, Abe, Manabu, Ling, Yiwei, Okuda, Shujiro, Funayama, Manabu, Kikkawa, Mika, Miura, Yoshiki, Sakimura, Kenji, Narita, Ichiei, Waguri, Satoshi, Shimizu, Ritsuko, Komatsu, Masaaki
Publicado 2022

Shared Metabolic Profile of Caffeine in Parkinsonian Disorders

por Takeshige‐Amano, Haruka, Saiki, Shinji, Fujimaki, Motoki, Ueno, Shin‐Ichi, Li, Yuanzhe, Hatano, Taku, Ishikawa, Kei‐Ichi, Oji, Yutaka, Mori, Akio, Okuzumi, Ayami, Tsunemi, Taiji, Daida, Kensuke, Ishiguro, Yuta, Imamichi, Yoko, Nanmo, Hisayoshi, Nojiri, Shuko, Funayama, Manabu, Hattori, Nobutaka
Publicado 2020

PINK1 autophosphorylation upon membrane potential dissipation is essential for Parkin recruitment to damaged mitochondria

por Okatsu, Kei, Oka, Toshihiko, Iguchi, Masahiro, Imamura, Kenji, Kosako, Hidetaka, Tani, Naoki, Kimura, Mayumi, Go, Etsu, Koyano, Fumika, Funayama, Manabu, Shiba-Fukushima, Kahori, Sato, Shigeto, Shimizu, Hideaki, Fukunaga, Yuko, Taniguchi, Hisaaki, Komatsu, Masaaki, Hattori, Nobutaka, Mihara, Katsuyoshi, Tanaka, Keiji, Matsuda, Noriyuki
Publicado 2012

A metabolic profile of polyamines in parkinson disease: A promising biomarker

por Saiki, Shinji, Sasazawa, Yukiko, Fujimaki, Motoki, Kamagata, Koji, Kaga, Naoko, Taka, Hikari, Li, Yuanzhe, Souma, Sanae, Hatano, Taku, Imamichi, Yoko, Furuya, Norihiko, Mori, Akio, Oji, Yutaka, Ueno, Shin‐Ichi, Nojiri, Shuko, Miura, Yoshiki, Ueno, Takashi, Funayama, Manabu, Aoki, Shigeki, Hattori, Nobutaka
Publicado 2019

Long-read sequencing resolves a complex structural variant in PRKN Parkinson’s disease

por Daida, Kensuke, Funayama, Manabu, Billingsley, Kimberley J, Malik, Laksh, Miano-Burkhardt, Abigail, Leonard, Hampton L., Makarious, Mary B., Iwaki, Hirotaka, Ding, Jinhui, Gibbs, J. Raphael, Ishiguro, Mayu, Yoshino, Hiroyo, Ogaki, Kotaro, Oyama, Genko, Nishioka, Kenya, Nonaka, Risa, Akamatsu, Wado, Blauwendraat, Cornelis, Hattori, Nobutaka
Publicado 2023

Propagative α-synuclein seeds as serum biomarkers for synucleinopathies

por Okuzumi, Ayami, Hatano, Taku, Matsumoto, Gen, Nojiri, Shuko, Ueno, Shin-ichi, Imamichi-Tatano, Yoko, Kimura, Haruka, Kakuta, Soichiro, Kondo, Akihide, Fukuhara, Takeshi, Li, Yuanzhe, Funayama, Manabu, Saiki, Shinji, Taniguchi, Daisuke, Tsunemi, Taiji, McIntyre, Deborah, Gérardy, Jean-Jacques, Mittelbronn, Michel, Kruger, Rejko, Uchiyama, Yasuo, Nukina, Nobuyuki, Hattori, Nobutaka
Publicado 2023

Mitochondrial dysfunction associated with increased oxidative stress and α-synuclein accumulation in PARK2 iPSC-derived neurons and postmortem brain tissue

por Imaizumi, Yoichi, Okada, Yohei, Akamatsu, Wado, Koike, Masato, Kuzumaki, Naoko, Hayakawa, Hideki, Nihira, Tomoko, Kobayashi, Tetsuro, Ohyama, Manabu, Sato, Shigeto, Takanashi, Masashi, Funayama, Manabu, Hirayama, Akiyoshi, Soga, Tomoyoshi, Hishiki, Takako, Suematsu, Makoto, Yagi, Takuya, Ito, Daisuke, Kosakai, Arifumi, Hayashi, Kozo, Shouji, Masanobu, Nakanishi, Atsushi, Suzuki, Norihiro, Mizuno, Yoshikuni, Mizushima, Noboru, Amagai, Masayuki, Uchiyama, Yasuo, Mochizuki, Hideki, Hattori, Nobutaka, Okano, Hideyuki
Publicado 2012

Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy

por Lin, Chin-Hsien, Tsai, Pei-I, Lin, Han-Yi, Hattori, Nobutaka, Funayama, Manabu, Jeon, Beomseok, Sato, Kota, Abe, Koji, Mukai, Yohei, Takahashi, Yuji, Li, Yuanzhe, Nishioka, Kenya, Yoshino, Hiroyo, Daida, Kensuke, Chen, Meng-Ling, Cheng, Jay, Huang, Cheng-Yen, Tzeng, Shiou-Ru, Wu, Yen-Sheng, Lai, Hsing-Jung, Tsai, Hsin-Hsi, Yen, Ruoh-Fang, Lee, Ni-Chung, Lo, Wen-Chun, Hung, Yu-Chien, Chan, Chih-Chiang, Ke, Yi-Ci, Chao, Chi-Chao, Hsieh, Sung-Tsang, Farrer, Matthew, Wu, Ruey-Meei
Publicado 2020