Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis

Altered Expression of Ganglioside Metabolizing Enzymes Results in GM3 Ganglioside Accumulation in Cerebellar Cells of a Mouse Model of Juvenile Neuronal Ceroid Lipofuscinosis

Juvenile neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene. Most JNCL patients exhibit a 1.02 kb genomic deletion removing exons 7 and 8 of this gene, which results in a truncated CLN3 protein carrying an aberrant C-terminus. A genetically accurate mouse model (Cln3Δex7/8...

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Bibliographic Details
Main Authors: Aleksandra Somogyi, Anton Petcherski, Benedikt Beckert, Mylene Huebecker, David A. Priestman, Antje Banning, Susan L. Cotman, Frances M. Platt, Mika O. Ruonala, Ritva Tikkanen
Format: Article
Language:English
Published: MDPI AG 2018-02-01
Series:International Journal of Molecular Sciences
Subjects:
Batten disease
neuronal ceroid lipofuscinosis
CLN3
lysosomal storage disorders
glycosphingolipids
gangliosides
Online Access:http://www.mdpi.com/1422-0067/19/2/625

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http://www.mdpi.com/1422-0067/19/2/625

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