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Article

Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis.

Neurobiology of disease - 1 Feb 2008

Katz Martin L, Johnson Gary S, Tullis Gregory E, Lei Bo

Abstract excerpt

Juvenile neuronal ceroid lipofuscinosis (JNCL) is an autosomal recessively inherited neurodegenerative disorder that results from mutations in the CLN3 gene. JNCL is characterized by accumulation of autofluorescent lysosomal storage bodies, vision loss, seizures, progressive cognitive and motor decline, and premature death. Studies were undertaken to characterize the neuronal ceroid lipofuscinosis phenotype in a...

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Source

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Identifiers

PMID: 17962032
DOI: 10.1016/j.nbd.2007.08.017
PMCID: PMC2268761

Genes

CLN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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