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Article

Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6.

Journal of medical genetics - 1 Sept 1998

Broom M F, Zhou C, Broom J E, Barwell K J, Jolly R D, Hill D F

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited degenerative neurological diseases affecting children. A number of non-allelic variants have been identified within the human population and the genes for some of these have recently been identified. The underlying mechanism for the neuropathology remains an enigma; however, pioneering studies with the naturally occurring ovine model (OCL) have...

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Source

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Identifiers

PMID: 9733028
DOI: 10.1136/jmg.35.9.717
PMCID: PMC1051422

Genes

CLN6
NCL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6.PMID 9733028Read ↗

A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA.Semantic proximity Read ↗

Neuronal ceroid lipofuscinosis in Australian Merino sheep: a new animal model.Semantic proximity Read ↗

A new large animal model of CLN5 neuronal ceroid lipofuscinosis in Borderdale sheep is caused by a nucleotide substitution at a consensus splice site (c.571 + 1G >>> A) leading to excision of exon 3Semantic proximity Read ↗

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

CRISPR/Cas9 mediated generation of an ovine model for infantile neuronal ceroid lipofuscinosis (CLN1 disease)Semantic proximity Read ↗

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The mouse ortholog of the neuronal ceroid lipofuscinosis CLN5 gene encodes a soluble lysosomal glycoprotein expressed in the developing brainSemantic proximity Read ↗

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Golden Retriever dogs with neuronal ceroid lipofuscinosis have a two-base-pair deletion and frameshift in CLN5Semantic proximity Read ↗

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Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis.Semantic proximity Read ↗

Recent studies of ovine neuronal ceroid lipofuscinoses from BARN, the Batten Animal Research NetworkSemantic proximity Read ↗

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