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Article

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

The Journal of biological chemistry - 21 May 2004

Heine Claudia, Koch Bettina, Storch Stephan, Kohlschütter Alfried, Palmer David N, Braulke Thomas

Abstract excerpt

Variant late infantile neuronal ceroid lipofuscinosis, a lysosomal storage disorder characterized by progressive mental deterioration and blindness, is caused by mutations in a polytopic membrane protein (CLN6) with unknown intracellular localization and function. In this study, transient transfection of BHK21 cells with CLN6 cDNA and immunoblot analysis using peptide-specific CLN6 antibodies demonstrated the...

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Source

Identifiers

PMID: 15010453
DOI: 10.1074/jbc.M400643200

Genes

CLN6

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.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A.PMID 15010453Read ↗

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

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

Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.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 ↗

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

Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)Semantic proximity Read ↗

The intracellular location and function of proteins of neuronal ceroid lipofuscinoses.Semantic proximity Read ↗

Identifying protein partners of CLN8, an ER-resident protein involved in neuronal ceroid lipofuscinosisSemantic proximity Read ↗

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum.Semantic proximity Read ↗

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