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

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.

Cell - 22 Sept 1995

Abstract excerpt

Batten disease (also known as juvenile neuronal ceroid lipofuscinosis) is a recessively inherited neurodegenerative disorder of childhood characterized by progressive loss of vision, seizures, and psychomotor disturbances. The Batten disease gene, CLN3, maps to chromosome 16p12.1. The so-called 56 chromosome haplotype defined by alleles at the D16S299 and D16S298 loci is shared by 73% of Batten disease...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Chromosome Deletion
Share to Cosmids

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA, Complementary

Share to Genetic Testing

Share to Neuronal Ceroid-Lipofuscinoses

Share to Sequence Analysis, DNA

Share to Tumor Cells, Cultured

Source

Identifiers

PMID: 7553855
DOI: 10.1016/0092-8674(95)90274-0

Genes

CLN3

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium.PMID 7553855Read ↗

Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association.Semantic proximity Read ↗

Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.Semantic proximity Read ↗

Refined localization of the Batten disease gene (CLN3) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclusion from this region of a variant form of Batten disease with granular osmiophilic deposits.Semantic proximity Read ↗

Carrier detection of Batten disease (juvenile neuronal ceroid-lipofuscinosis).Semantic proximity Read ↗

Current Insights in Elucidation of Possible Molecular Mechanisms of the Juvenile Form of Batten Disease.Semantic proximity Read ↗

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

Physical map of the region containing the gene for Batten disease (CLN3).Semantic proximity Read ↗

Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).Semantic proximity Read ↗

Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.Semantic proximity Read ↗

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

Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathwaysSemantic proximity Read ↗

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

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