Cargando…
Validation and assessment of preanalytical factors of a fluorometric in vitro assay for glucocerebrosidase activity in human cerebrospinal fluid
Lysosomal dysfunction is an emerging feature in the pathology of Parkinson’s disease and Dementia with Lewy bodies. Mutations in the GBA gene, encoding the enzyme Glucocerebrosidase (GCase), have been identified as a genetic risk factor for these synucleinopathies. As a result, there has been a grow...
Autores principales: | Oftedal, Linn, Maple-Grødem, Jodi, Førland, Marthe Gurine Gunnarsdatter, Alves, Guido, Lange, Johannes |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7744549/ https://www.ncbi.nlm.nih.gov/pubmed/33328543 http://dx.doi.org/10.1038/s41598-020-79104-5 |
Ejemplares similares
-
A systematic review of associations between common SNCA variants and clinical heterogeneity in Parkinson’s disease
por: Pedersen, Camilla Christina, et al.
Publicado: (2021) -
Association of CSF Glucocerebrosidase Activity With the Risk of Incident Dementia in Patients With Parkinson Disease
por: Oftedal, Linn, et al.
Publicado: (2023) -
Seed Amplification Assay as a Diagnostic Tool in Newly-Diagnosed Parkinson’s Disease
por: Oftedal, Linn, et al.
Publicado: (2023) -
Early GCase activity is a predictor of long-term cognitive decline in Parkinson’s disease
por: Oftedal, Linn, et al.
Publicado: (2023) -
Excessive Daytime Sleepiness and REM Sleep Behavior Disorders in Parkinson's Disease: A Narrative Review on Early Intervention With Implications to Neuroprotection
por: Gjerstad, Michaela D., et al.
Publicado: (2018)