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

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

Abstract 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 c...

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Autores principales: Young Eun Huh, Hyejung Park, Ming Sum Ruby Chiang, Idil Tuncali, Ganqiang Liu, Joseph J. Locascio, Julia Shirvan, Samantha J. Hutten, Melissa S. Rotunno, Catherine Viel, Lamya S. Shihabuddin, Bing Wang, Sergio Pablo Sardi, Clemens R. Scherzer
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Neurology. Diseases of the nervous system
RC346-429
Acceso en línea:https://doaj.org/article/55051a3035eb4ec194cc1bc0ad51cd1d
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