Article
Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.
Brain : a journal of neurology - 1 Jan 2017
Puschmann Andreas, Fiesel Fabienne C, Caulfield Thomas R, Hudec Roman, Ando Maya, Truban Dominika, Hou Xu, Ogaki Kotaro, Heckman Michael G, James Elle D, Swanberg Maria, Jimenez-Ferrer Itzia, Hansson Oskar, Opala Grzegorz, Siuda Joanna, Boczarska-Jedynak Magdalena, Friedman Andrzej, Koziorowski Dariusz, Rudzińska-Bar Monika, Aasly Jan O, Lynch Timothy, Mellick George D, Mohan Megha, Silburn Peter A, Sanotsky Yanosh, Vilariño-Güell Carles, Farrer Matthew J, Chen Li, Dawson Valina L, Dawson Ted M, Wszolek Zbigniew K, Ross Owen A, Springer Wolfdieter
Abstract excerpt
SEE GANDHI AND PLUN-FAVREAU DOI101093/AWW320 FOR A SCIENTIFIC COMMENTARY ON THIS ARTICLE: It has been postulated that heterozygous mutations in recessive Parkinson's genes may increase the risk of developing the disease. In particular, the PTEN-induced putative kinase 1 (PINK1) p.G411S (c.1231G>A, rs45478900) mutation has been reported in families with dominant inheritance patterns of Parkinson's disease,...
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