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

Abstract 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 dege...

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Váldodahkkit:	Yevgeniya Atiskova, Susanne Bartsch, Tatyana Danyukova, Elke Becker, Christian Hagel, Stephan Storch, Udo Bartsch
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	Nature Portfolio 2019-10-01
Ráidu:	Scientific Reports
Liŋkkat:	https://doi.org/10.1038/s41598-019-50726-8
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