Mitochondrial DNA heteroplasmy distinguishes disease manifestation in PINK1/PRKN-linked Parkinson’s disease

Biallelic mutations in PINK1/PRKN cause recessive Parkinson’s disease. Given the established role of PINK1/Parkin in regulating mitochondrial dynamics, we explored mitochondrial DNA integrity and inflammation as disease modifiers in carriers of mutations in these genes. Mitochondrial DNA integrity w...

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Detalles Bibliográficos
Autores principales: Trinh, Joanne, Hicks, Andrew A, König, Inke R, Delcambre, Sylvie, Lüth, Theresa, Schaake, Susen, Wasner, Kobi, Ghelfi, Jenny, Borsche, Max, Vilariño-Güell, Carles, Hentati, Faycel, Germer, Elisabeth L, Bauer, Peter, Takanashi, Masashi, Kostić, Vladimir, Lang, Anthony E, Brüggemann, Norbert, Pramstaller, Peter P, Pichler, Irene, Rajput, Alex, Hattori, Nobutaka, Farrer, Matthew J, Lohmann, Katja, Weissensteiner, Hansi, May, Patrick, Klein, Christine, Grünewald, Anne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316771/
https://www.ncbi.nlm.nih.gov/pubmed/36478228
http://dx.doi.org/10.1093/brain/awac464

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