Article
Gene-based burden analysis of damaging private variants in PRKN, PARK7 and PINK1 in Parkinson's disease cohorts of European descent.
Neurobiology of aging - 1 Nov 2022
Hu Jing, Waters Cheryl H, Spiegelman Dan, Fon Edward A, Yu Eric, Asayesh Farnaz, Krohn Lynne, Saini Prabhjyot, Alcalay Roy N, Hassin-Baer Sharon, Gan-Or Ziv, Krainc Dimitri, Zhang BaoRong, Bustos Bernabe I, Lubbe Steven J
Abstract excerpt
Recessive mutations in PRKN, PARK7, and PINK1 are established causes of early-onset Parkinson's disease (EOPD). Previous studies have interrogated the role of heterozygous variants in these genes but mainly focused on rare (minor allele frequency [MAF] <1%) damaging variants or established mutations. Here, we assessed heterozygous private PRKN, PARK7 and PINK1 variants in PD risk in four large-scale PD...
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