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Article

Ocular phenotype in a mouse gene knockout model for infantile neuronal ceroid lipofuscinosis.

Journal of neuroscience research - 1 Oct 2006

Lei Bo, Tullis Gregory E, Kirk Mark D, Zhang Keqing, Katz Martin L

Abstract excerpt

Mutations in the human protein palmitoyl thioesterase-1 (PPT-1) gene result in an autosomal recessive neurodegenerative disorder designated neuronal ceroid lipofuscinosis (NCL), type CLN1, or infantile NCL. Among the symptoms of the CLN1 disease are accumulation of autofluorescent lysosomal storage bodies in neurons and other cell types, seizures, motor and cognitive decline, blindness, and premature death....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 16881055
DOI: 10.1002/jnr.21008
PMCID: PMC3384550

Genes

ERG
NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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