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Glucosylceramide in cerebrospinal fluid of patients with GBA-associated and idiopathic Parkinson’s disease enrolled in PPMI

Protein-coding variants in the GBA gene modulate susceptibility and progression in ~10% of patients with Parkinson’s disease (PD). GBA encodes the β-glucocerebrosidase enzyme that hydrolyzes glucosylceramide. We hypothesized that GBA mutations will lead to glucosylceramide accumulation in cerebrospi...

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Detalles Bibliográficos
Autores principales: Huh, Young Eun, Park, Hyejung, Chiang, Ming Sum Ruby, Tuncali, Idil, Liu, Ganqiang, Locascio, Joseph J., Shirvan, Julia, Hutten, Samantha J., Rotunno, Melissa S., Viel, Catherine, Shihabuddin, Lamya S., Wang, Bing, Sardi, Sergio Pablo, Scherzer, Clemens R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8608962/
https://www.ncbi.nlm.nih.gov/pubmed/34811369
http://dx.doi.org/10.1038/s41531-021-00241-3