Parkin truncating variants result in a loss-of-function phenotype

Parkinson disease (PD) is the second most common neurodegenerative disorder. Most cases of PD are sporadic, while 5–10% have a known genetic basis. Variants in the PARK2 gene are the most frequent cause of autosomal recessive juvenile-onset PD. PARK2 encodes parkin, a multi-domain protein that funct...

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Detalles Bibliográficos
Autores principales: Santos, Mariana, Morais, Sara, Pereira, Conceição, Sequeiros, Jorge, Alonso, Isabel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834586/
https://www.ncbi.nlm.nih.gov/pubmed/31695088
http://dx.doi.org/10.1038/s41598-019-52534-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834586/
https://www.ncbi.nlm.nih.gov/pubmed/31695088
http://dx.doi.org/10.1038/s41598-019-52534-6

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