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Glucocerebrosidase and its relevance to Parkinson disease

Mutations in GBA1, the gene encoding the lysosomal enzyme glucocerebrosidase, are among the most common known genetic risk factors for the development of Parkinson disease and related synucleinopathies. A great deal is known about GBA1, as mutations in GBA1 are causal for the rare autosomal storage...

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Detalles Bibliográficos
Autores principales: Do, Jenny, McKinney, Cindy, Sharma, Pankaj, Sidransky, Ellen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6716912/
https://www.ncbi.nlm.nih.gov/pubmed/31464647
http://dx.doi.org/10.1186/s13024-019-0336-2