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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 re...

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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 2 Sept 2026. Prepared record publication-20020536-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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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 ↗

Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A.Semantic proximity Read ↗

CLN6 deficiency causes selective changes in the lysosomal protein composition.Semantic proximity Read ↗

Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner.Semantic proximity Read ↗

CLN6's luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6.Semantic proximity Read ↗

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 ↗

Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

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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 ↗

Mutation of the glycosylated asparagine residue 286 in human CLN2 protein results in loss of enzymatic activity.Semantic proximity Read ↗

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