Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Splicing variants in sheep CLN3, the gene underlying juvenile neuronal ceroid lipofuscinosis.

Molecular genetics and metabolism - 1 Jun 1999

Oswald M J, Palmer D N, Damak S

Abstract excerpt

Mutations in different genes underlie different forms of the neuronal ceroid lipofuscinoses (NCLs, Batten disease). Subunit c of mitochondrial ATP synthase specifically accumulates in most of them, including the juvenile CLN3 form and a sheep form orthologous to CLN6. Products of these genes are likely to be components of a complex or pathway for subunit c turnover, and their expression may be cross-regulated....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Membrane Glycoproteins
Share to Molecular Chaperones
Share to Molecular Weight

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Neuronal Ceroid-Lipofuscinoses

Share to Peptides

Share to RNA Splicing

Share to Sequence Homology, Nucleic Acid

Source

Identifiers

PMID: 10356317
DOI: 10.1006/mgme.1999.2848

Genes

CLN3
CLN6

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Splicing variants in sheep CLN3, the gene underlying juvenile neuronal ceroid lipofuscinosis.PMID 10356317Read ↗

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

Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins.Semantic proximity Read ↗

Targeted long-read RNA sequencing reveals the complexity of <i>CLN3</i> transcription and the consequences of the most common 1-kb deletion in patients with juvenile CLN3 diseaseSemantic proximity Read ↗

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 ↗

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

Membrane topology of CLN3, the protein underlying Batten disease.Semantic proximity Read ↗

Spectrum of mutations in the Batten disease gene, CLN3.Semantic proximity Read ↗

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).Semantic proximity Read ↗

Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosisSemantic proximity Read ↗

Characterization of the canine CLCN3 gene and evaluation as candidate for late-onset NCL.Semantic proximity Read ↗

Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.