CHCHD10 is involved in the development of Parkinson's disease caused by CHCHD2 loss-of-function mutation p.T61I.
CHCHD10 is involved in the development of Parkinson's disease caused by CHCHD2 loss-of-function mutation p.T61I.
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CHCHD10 参与由 CHCHD2 功能丧失突变 p.T61I 引起的帕金森病的发生
DOI：
10.1016/j.neurobiolaging.2018.10.020
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发表时间：
2019-03
影响因子：
4.2
通讯作者：
Xu Y
中科院分区：
文献类型：
--
作者：
Mao C;Wang H;Luo H;Zhang S;Xu H;Zhang S;Rosenblum J;Wang Z;Zhang Q;Tang M;Shepard MJ;Wang X;Wang Y;Zhuang Z;Shi C;Xu Y
Previously we identified the p.Thr61Ile mutation in coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2) in a Chinese family with autosomal dominant Parkinson’s disease. But the mechanism is still unclear. In this study, we explored the effects of CHCHD2 p.Thr61Ile mutation in cells and its association with coiled-coil-helix-coiled-coil-helix domain containing 10 (CHCHD10). We found that overexpression of Parkinson’s disease–associated T61I mutant CHCHD2 did not produce mitochondrial dysfunction. Rather, its protective effect from stress was abrogated. And, the level of the CHCHD2 protein and mRNA in patient fibroblasts was not significantly different from control. In addition, CHCHD2 T61I mutation caused increased interaction with CHCHD10 and reduced CHCHD10 level. The mitochondrial ultrastructural alterations in CHCHD2 T61I mutant patient fibroblasts are similar to that of CHCHD10 mutations. We therefore propose that CHCHD10 is involved in the development of Parkinson’s disease caused by CHCHD2 loss-of-function mutation p.T61I.
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影响因子：
11.1
作者：
Genin EC;Plutino M;Bannwarth S;Villa E;Cisneros-Barroso E;Roy M;Ortega-Vila B;Fragaki K;Lespinasse F;Pinero-Martos E;Augé G;Moore D;Burté F;Lacas-Gervais S;Kageyama Y;Itoh K;Yu-Wai-Man P;Sesaki H;Ricci JE;Vives-Bauza C;Paquis-Flucklinger V
通讯作者：
Paquis-Flucklinger V
家族性和散发性帕金森病的 CHCHD2 基因突变
影响因子：
4.2
作者：
Shi，Chang-he;Mao，Cheng-yuan;Xu，Yu-ming
通讯作者：
Xu，Yu-ming
影响因子：
16.6
作者：
Meng H;Yamashita C;Shiba-Fukushima K;Inoshita T;Funayama M;Sato S;Hatta T;Natsume T;Umitsu M;Takagi J;Imai Y;Hattori N
通讯作者：
Hattori N
影响因子：
48
作者：
Funayama, Manabu;Ohe, Kenji;Hattori, Nobutaka
通讯作者：
Hattori, Nobutaka
影响因子：
3.5
作者：
Straub, Isabella R.;Janer, Alexandre;Shoubridge, Eric A.
通讯作者：
Shoubridge, Eric A.