A Novel PINK1 p.F385S Loss-of-Function Mutation in an Indian Family with Parkinson's Disease.
Karan SharmaAsha KishoreAnna Lechado-TerradasRaffaele PassannantiFrancesco RaimondiMarc SturmAshwin Ashok Kumar SreelathaDivya Kalikavila PuthenveeduGangadhara SarmaNicolas CasadeiRejko KrügerThomas GasserPhilipp KahleOlaf RiessJulia C FitzgeraldManu SharmaPublished in: Movement disorders : official journal of the Movement Disorder Society (2024)
We characterized a novel nonconservative mutation in the DFG motif of PINK1, which causes loss of its ubiquitin kinase activity and inhibition of mitophagy. © 2024 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.