Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN variant carriers

Molecular phenotypes of mitochondrial dysfunction in clinically non-manifesting heterozygous PRKN variant carriers

Abstract 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 patho...

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Bibliographic Details
Main Authors: Maria Paulina Castelo Rueda, Alessandra Zanon, Valentina Gilmozzi, Alexandros A. Lavdas, Athina Raftopoulou, Sylvie Delcambre, Fabiola Del Greco M, Christine Klein, Anne Grünewald, Peter P. Pramstaller, Andrew A. Hicks, Irene Pichler
Format: Article
Language:English
Published: Nature Portfolio 2023-04-01
Series:npj Parkinson's Disease
Online Access:https://doi.org/10.1038/s41531-023-00499-9

Internet

https://doi.org/10.1038/s41531-023-00499-9

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