Acid ceramidase involved in pathogenic cascade leading to accumulation of α-synuclein in iPSC model of GBA1-associated Parkinson’s disease

Bi-allelic mutations in GBA1, the gene that encodes β-glucocerebrosidase (GCase), cause Gaucher disease (GD), whereas mono-allelic mutations do not cause overt pathology. Yet mono- or bi-allelic GBA1 mutations are the highest known risk factor for Parkinson’s disease (PD). GCase deficiency results i...

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Detalles Bibliográficos
Autores principales: Kumar, Manoj, Srikanth, Manasa P, Deleidi, Michela, Hallett, Penelope J, Isacson, Ole, Feldman, Ricardo A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196677/
https://www.ncbi.nlm.nih.gov/pubmed/36752535
http://dx.doi.org/10.1093/hmg/ddad025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10196677/
https://www.ncbi.nlm.nih.gov/pubmed/36752535
http://dx.doi.org/10.1093/hmg/ddad025

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