Unexpected phenotypic and molecular changes of combined glucocerebrosidase and acid sphingomyelinase deficiency

Heterozygous variants in GBA1, encoding glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease (PD). Moreover, sporadic PD patients also have a substantial reduction of GCase activity. Genetic variants of SMPD1 are also overrepresented in PD cohorts, whereas...

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Detalles Bibliográficos
Autores principales: Keatinge, Marcus, Gegg, Matthew E., Watson, Lisa, Mortiboys, Heather, Li, Nan, Dunning, Mark, Ailani, Deepak, Bui, Hai, van Rens, Astrid, Lefeber, Dirk J., Schapira, Anthony H. V., MacDonald, Ryan B., Bandmann, Oliver
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Company of Biologists Ltd 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10184672/
https://www.ncbi.nlm.nih.gov/pubmed/36951087
http://dx.doi.org/10.1242/dmm.049954

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10184672/
https://www.ncbi.nlm.nih.gov/pubmed/36951087
http://dx.doi.org/10.1242/dmm.049954

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