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Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy.
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 M, Wu RM. Lin CH, et al. Among authors: tzeng sr. Brain. 2020 Dec 5;143(11):3352-3373. doi: 10.1093/brain/awaa279. Brain. 2020. PMID: 33141179 Free PMC article.
Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder.
Chen CW, Wang HL, Huang CW, Huang CY, Lim WK, Tu IC, Koorapati A, Hsieh ST, Kan HW, Tzeng SR, Liao JC, Chong WM, Naroditzky I, Kidron D, Eran A, Nijim Y, Sela E, Feldman HB, Kalfon L, Raveh-Barak H, Falik-Zaccai TC, Elpeleg O, Mandel H, Chang ZF. Chen CW, et al. Among authors: tzeng sr. Proc Natl Acad Sci U S A. 2019 Jan 8;116(2):566-574. doi: 10.1073/pnas.1818629116. Epub 2018 Dec 26. Proc Natl Acad Sci U S A. 2019. PMID: 30587587 Free PMC article.
33 results