Mice deficient in the lysosomal enzyme palmitoyl-protein thioesterase 1 (PPT1) display a complex retinal phenotype

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...

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Pubblicato in:Sci Rep
Autori principali: Atiskova, Yevgeniya, Bartsch, Susanne, Danyukova, Tatyana, Becker, Elke, Hagel, Christian, Storch, Stephan, Bartsch, Udo
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group UK 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6775149/
https://ncbi.nlm.nih.gov/pubmed/31578378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-50726-8
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