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Article

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.

Experimental cell research - 15 Aug 2004

Mole Sara E, Michaux Gregoire, Codlin Sandra, Wheeler Ruth B, Sharp Julie D, Cutler Daniel F

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are severe inherited neurodegenerative disorders affecting children. In this disease, lysosomes accumulate autofluorescent storage material and there is death of neurons. Five types of NCL are caused by mutations in lysosomal proteins (CTSD, CLN1/PPT1, CLN2/TTPI, CLN3 and CLN5), and one type is caused by mutations in a protein that recycles between the ER and ERGIC...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15265688
DOI: 10.1016/j.yexcr.2004.04.042

Genes

CLN6
NCL
CLN3
CLN5
CLN8
CTSD
PPT1

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.

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CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein.PMID 15265688Read ↗

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