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Article

Distinct neuropathologic phenotypes after disrupting the chloride transport proteins ClC-6 or ClC-7/Ostm1.

Journal of neuropathology and experimental neurology - 1 Dec 2010

Pressey Sarah N R, O'Donnell Kieran J, Stauber Tobias, Fuhrmann Jens C, Tyynelä Jaana, Jentsch Thomas J, Cooper Jonathan D

Abstract excerpt

The proteins ClC-6 and ClC-7 are expressed in the endosomal-lysosomal system. Because Clcn6-deficient mice display some features of neuronal ceroid lipofuscinosis (NCL), CLCN6 may be a candidate gene for novel forms of NCL. Using landmarks of disease progression from NCL mouse models as a guide,...

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Source

Identifiers

PMID: 21107136
DOI: 10.1097/NEN.0b013e3181ffe742

Genes

NCL
CLC
CLCN6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21107136-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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