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Article

The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.

Human mutation - 1 Mar 2010

Schmiedt Mia-Lisa, Bessa Carlos, Heine Claudia, Ribeiro Maria Gil, Jalanko Anu, Kyttälä Aija

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCLs) represent a group of children's inherited neurodegenerative disorders caused by mutations in at least eight different genes. Mutations in the CLN5 gene result in the Finnish variant late infantile NCL characterized by gradual loss of vision, epileptic seizure...

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Source

Identifiers

PMID: 20052765
DOI: 10.1002/humu.21195

Genes

CLN5
NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20052765-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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The neuronal ceroid lipofuscinosis protein CLN5: new insights into cellular maturation, transport, and consequences of mutations.PMID 20052765Read ↗

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CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteinsSemantic proximity Read ↗

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