Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants

Pathogenic variants in PINK1 cause early-onset Parkinson’s disease. Although many PINK1 variants have been reported, the clinical significance is uncertain for the majority of them. To gain insights into the consequences of PINK1 missense variants in a systematic manner, we selected 50 PINK1 missens...

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Detalles Bibliográficos
Autores principales: Ma, Kai Yu, Fokkens, Michiel R., van Laar, Teus, Verbeek, Dineke S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8664852/
https://www.ncbi.nlm.nih.gov/pubmed/34893635
http://dx.doi.org/10.1038/s41531-021-00258-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8664852/
https://www.ncbi.nlm.nih.gov/pubmed/34893635
http://dx.doi.org/10.1038/s41531-021-00258-8

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