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Article

Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla.

American journal of physiology. Cell physiology - 1 Jun 2010

Stein Colleen S, Yancey Paul H, Martins Inês, Sigmund Rita D, Stokes John B, Davidson Beverly L

Abstract excerpt

Recessive inheritance of mutations in ceroid neuronal lipofuscinosis type 3 (CLN3) results in juvenile neuronal ceroid lipofuscinosis (JNCL), a childhood neurodegenerative disease with symptoms including loss of vision, seizures, and motor and mental decline. CLN3p is a transmembrane protein with...

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Identifiers

PMID: 20219947
DOI: 10.1152/ajpcell.00272.2009
PMCID: PMC3774101

Genes

CLN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20219947-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Research trail→

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Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla.PMID 20219947Read ↗

Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Phenotypic characterization of a mouse model of juvenile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.Semantic proximity Read ↗

A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease).Semantic proximity Read ↗

CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

A Knock-In Reporter Model of Batten DiseaseSemantic proximity Read ↗

Loss of the lysosomal protein CLN3 modifies the lipid content of the nuclear envelope leading to DNA damage and activation of YAP1 pro-apoptotic signalingSemantic proximity Read ↗

CLN3, at the crossroads of endocytic trafficking.Semantic proximity Read ↗

Cln3 Deltaex7/8 knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birthSemantic proximity Read ↗

Loss of CLN3, the gene mutated in juvenile neuronal ceroid lipofuscinosis, leads to metabolic impairment and autophagy induction in retinal pigment epithelium.Semantic proximity Read ↗

Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.Semantic proximity Read ↗

Biosynthesis and Intracellular Targeting of the CLN3 Protein Defective in Batten DiseaseSemantic proximity Read ↗

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