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

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 het...

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Detalles Bibliográficos
Autores principales: Castelo Rueda, Maria Paulina, Zanon, Alessandra, Gilmozzi, Valentina, Lavdas, Alexandros A., Raftopoulou, Athina, Delcambre, Sylvie, Del Greco M, Fabiola, Klein, Christine, Grünewald, Anne, Pramstaller, Peter P., Hicks, Andrew A., Pichler, Irene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10113363/
https://www.ncbi.nlm.nih.gov/pubmed/37072441
http://dx.doi.org/10.1038/s41531-023-00499-9

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