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Article

Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.

Human mutation - 1 Feb 2010

Kurze Anna-Katherina, Galliciotti Giovanna, Heine Claudia, Mole Sara E, Quitsch Arne, Braulke Thomas

Abstract excerpt

One variant form of late infantile neuronal ceroid lipofuscinosis is an autosomal recessive inherited neurodegenerative lysosomal storage disorder caused by mutations in the CLN6gene. The function of the polytopic CLN6 membrane protein localized in the endoplasmic reticulum is unknown. Here we report on expression studies of three mutations (c.368G>A, c.460-462delATC, c.316insC) found in CLN6 patients predicted...

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Source

Identifiers

PMID: 20020536
DOI: 10.1002/humu.21184

Genes

CLN6

Variants

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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Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6.PMID 20020536Read ↗

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.Semantic proximity Read ↗

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Implications of graded reductions in CLN6's anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein.Semantic proximity Read ↗

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Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Niemann-Pick type C1 I1061T mutant encodes a functional protein that is selected for endoplasmic reticulum-associated degradation due to protein misfolding.Semantic proximity Read ↗

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