Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia

The GBA2 gene encodes the non-lysosomal glucosylceramidase (NLGase), an enzyme that catalyzes the conversion of glucosylceramide (GlcCer) to ceramide and glucose. Mutations in GBA2 have been associated with the development of neurological disorders such as autosomal recessive cerebellar ataxia, here...

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Detalles Bibliográficos
Autores principales: Malekkou, Anna, Samarani, Maura, Drousiotou, Anthi, Votsi, Christina, Sonnino, Sandro, Pantzaris, Marios, Chiricozzi, Elena, Zamba-Papanicolaou, Eleni, Aureli, Massimo, Loberto, Nicoletta, Christodoulou, Kyproula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6213336/
https://www.ncbi.nlm.nih.gov/pubmed/30308956
http://dx.doi.org/10.3390/ijms19103099

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