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Article

Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.

Human mutation - 1 Dec 2013

Larkin Heidi, Ribeiro Maria Gil, Lavoie Christine

Abstract excerpt

One late infantile variant of the neurodegenerative disease neuronal ceroid lipofuscinosis (NCL) is caused by a mutation in the CLN5 gene. CLN5 encodes a lysosomal glycoprotein whose structure and function have not yet been clearly defined. In the present study, we used epitope-tagged CLN5 to determine the topology and solubility of the CLN5 protein. Our results indicated that CLN5 is synthesized as a type II...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24038957
DOI: 10.1002/humu.22443

Genes

CLN5
NCL

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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Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5.PMID 24038957Read ↗

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