Ontology highlight
ABSTRACT:
SUBMITTER: Atiskova Y
PROVIDER: S-EPMC6775149 | biostudies-literature | 2019 Oct
REPOSITORIES: biostudies-literature
Atiskova Yevgeniya Y Bartsch Susanne S Danyukova Tatyana T Becker Elke E Hagel Christian C Storch Stephan S Bartsch Udo U
Scientific reports 20191002 1
Neuronal ceroid lipofuscinosis (NCL) type 1 (CLN1) is a neurodegenerative storage disorder caused by mutations in the gene encoding the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1). CLN1 patients suffer from brain atrophy, mental and motor retardation, seizures, and retinal degeneration ultimately resulting in blindness. Here, we performed an in-depth analysis of the retinal phenotype of a PPT1-deficient mouse, an animal model of this condition. Reactive astrogliosis and microgliosis ...[more]