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Article

The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.

Brain pathology (Zurich, Switzerland) - 1 Jan 2004

Ezaki Junji, Kominami Eiki

Abstract excerpt

Neuronal ceroid lipofuscinoses are a group of diseases characterized by accumulation of hydrophobic proteins in lysosomes of neurons and other types of cells. NCLs are caused by at least 8 mutant genes (CLN1-CLN8), though CLN4 and CLN7 have not yet been identified. Except for Cln1p, the protein encoded by CLN1, the defective proteins are associated with lysosomal accumulation of mitochondrial ATP synthase subunit...

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Identifiers

PMID: 14997940
DOI: 10.1111/j.1750-3639.2004.tb00501.x
PMCID: PMC8095780

Genes

NCL
CLC
CLN8

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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