Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function.

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第一作者： Kai,Sato

第一单位： From the Department of Molecular Life Sciences, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan.

作者： Kai,Sato ^[1] ; Asako,Otomo ^[2] ; Mahoko Takahashi,Ueda ^[3] ; Yui,Hiratsuka ^[1] ; Kyoko,Suzuki-Utsunomiya ^[1] ; Junya,Sugiyama ^[1] ; Shuji,Murakoshi ^[1] ; Shun,Mitsui ^[1] ; Suzuka,Ono ^[1] ; So,Nakagawa ^[2] ; Hui-Fang,Shang ^[4] ; Shinji,Hadano ^[5]

作者单位： From the Department of Molecular Life Sciences, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan. ^[1] From the Department of Molecular Life Sciences, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan.;The Institute of Medical Sciences, Tokai University, Isehara, Kanagawa 259-1193, Japan.;Micro/Nano Technology Center, Tokai University, Hiratsuka, Kanagawa 259-1292, Japan. ^[2] Micro/Nano Technology Center, Tokai University, Hiratsuka, Kanagawa 259-1292, Japan. ^[3] Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan 610041, China, and. ^[4] From the Department of Molecular Life Sciences, Tokai University School of Medicine, 143 Shimokasuya, Isehara, Kanagawa 259-1193, Japan, shinji@is.icc.u-tokai.ac.jp.;The Institute of Medical Sciences, Tokai University, Isehara, Kanagawa 259-1193, Japan.;Research Center for Brain and Nervous Diseases, Tokai University Graduate School of Medicine, Isehara, Kanagawa 259-1193, Japan. ^[5]

关键词 ALS2/alsin amyotrophic lateral sclerosis (ALS) (Lou Gehrig disease)endosome macropinosome membrane ruffle membrane trafficking missense mutation mutant neurodegeneration neurological disease oligomerization