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 (Cln3(Δex7/...

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Udgivet i:Int J Mol Sci
Main Authors: Somogyi, Aleksandra, Petcherski, Anton, Beckert, Benedikt, Huebecker, Mylene, Priestman, David A., Banning, Antje, Cotman, Susan L., Platt, Frances M., Ruonala, Mika O., Tikkanen, Ritva
Format: Artigo
Sprog:Inglês
Udgivet: MDPI 2018
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5855847/
https://ncbi.nlm.nih.gov/pubmed/29470438
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms19020625
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