Heterozygous PINK1 p.G411S increases risk of Parkinson’s disease via a dominant-negative mechanism

• Published in: Brain (London, England : 1878) Vol. 140; no. 1; pp. 98 - 117
• Main Authors: 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, 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
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 01.01.2017
• Subjects: Adolescent; Adult; Aged; Aged, 80 and over; Basic Medicine; Case-Control Studies; Clinical Medicine; Female; Fibroblasts; Genetic Association Studies; Genetic Predisposition to Disease - genetics; Heterozygote; Humans; Klinisk medicin; Male; Medical and Health Sciences; Medicin och hälsovetenskap; Medicinska och farmaceutiska grundvetenskaper; Middle Aged; Models, Molecular; Neurologi; Neurology; Neurosciences; Neurovetenskaper; Original; Parkinson Disease - genetics; Pedigree; Protein Kinases - genetics; Risk; Young Adult; heterozygous mutation; PINK1; mitophagy; Parkinson’s disease; ubiquitin

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...