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

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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Bibliographic Details
Main Authors: Anna Malekkou, Maura Samarani, Anthi Drousiotou, Christina Votsi, Sandro Sonnino, Marios Pantzaris, Elena Chiricozzi, Eleni Zamba-Papanicolaou, Massimo Aureli, Nicoletta Loberto, Kyproula Christodoulou
Format: Article
Language:English
Published: MDPI AG 2018-10-01
Series:International Journal of Molecular Sciences
Subjects:
GBA2
non-lysosomal β-glucosylceramidase
β-glucocerebrosidase
spastic ataxia
glucosylceramide
plasma membrane
lymphoblastoid cell lines
Online Access:http://www.mdpi.com/1422-0067/19/10/3099

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http://www.mdpi.com/1422-0067/19/10/3099

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