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Fibroblasts from idiopathic Parkinson’s disease exhibit deficiency of lysosomal glucocerebrosidase activity associated with reduced levels of the trafficking receptor LIMP2

Lysosomal dysfunction is a central pathway associated with Parkinson’s disease (PD) pathogenesis. Haploinsufficiency of the lysosomal hydrolase GBA (encoding glucocerebrosidase (GCase)) is one of the largest genetic risk factors for developing PD. Deficiencies in the activity of the GCase enzyme hav...

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Publicat a:Mol Brain
Autors principals: Thomas, Ria, Moloney, Elizabeth B., Macbain, Zachary K., Hallett, Penelope J., Isacson, Ole
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2021
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7816505/
https://ncbi.nlm.nih.gov/pubmed/33468204
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13041-020-00712-3
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