Ontology highlight
ABSTRACT:
SUBMITTER: Castelo Rueda MP
PROVIDER: S-EPMC10113363 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
Castelo Rueda Maria Paulina MP Zanon Alessandra A Gilmozzi Valentina V Lavdas Alexandros A AA Raftopoulou Athina A Delcambre Sylvie S Del Greco M Fabiola F Klein Christine C Grünewald Anne A Pramstaller Peter P PP Hicks Andrew A AA Pichler Irene I
NPJ Parkinson's disease 20230418 1
Homozygous or compound heterozygous (biallelic) variants in PRKN are causal for PD with highly penetrant symptom expression, while the much more common heterozygous variants may predispose to PD with highly reduced penetrance, through altered mitochondrial function. In the presence of pathogenic heterozygous variants, it is therefore important to test for mitochondrial alteration in cells derived from variant carriers to establish potential presymptomatic molecular markers. We generated lymphobl ...[more]