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

Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.

Journal of feline medicine and surgery - 1 Dec 2012

Uddin Mohammad M, Tanimoto Takeshi, Yabuki Akira, Kotani Takao, Kuwamura Mitsuru, Chang Hye-Sook, Yamato Osamu

Abstract excerpt

GM1 gangliosidosis is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations of the β-galactosidase (GLB1) gene. In feline GM1 gangliosidosis, a pathogenic mutation (c.1448G>C) of the feline GLB1 gene was identified in Siamese and Korat cats previously diagnosed with...

Read the complete abstract on PubMed

Topics

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

Share to beta-Galactosidase
Share to Cat Diseases
Share to Cats

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Gangliosidosis, GM1

Share to Gene Frequency

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 22772479
DOI: 10.1177/1098612X12454120
PMCID: PMC11108002

Genes

GLB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22772479-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.PMID 22772479Read ↗

Identification of Bangladeshi domestic cats with GM1 gangliosidosis caused by the c.1448G>C mutation of the feline GLB1 gene: case study.Semantic proximity Read ↗

Prevalence of mucopolysaccharidosis type VI mutations in Siamese cats.Semantic proximity Read ↗

Molecular basis of feline beta-glucuronidase deficiency: an animal model of mucopolysaccharidosis VII.Semantic proximity Read ↗

Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population.Semantic proximity Read ↗

Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat.Semantic proximity Read ↗

Isolation and characterization of the normal canine beta-galactosidase gene and its mutation in a dog model of GM1-gangliosidosis.Semantic proximity Read ↗

Rapid and simple polymerase chain reaction-based diagnostic assays for GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japanese domestic cats.Semantic proximity Read ↗

Real-time PCR genotyping assay for GM2 gangliosidosis variant 0 in toy poodles and the mutant allele frequency in Japan.Semantic proximity Read ↗

GM2-gangliosidosis variant 0 (Sandhoff-like disease) in a family of Japanese domestic cats.Semantic proximity Read ↗

Development of quantitative polymerase chain reaction assays for allelic discrimination of gangliosidoses in cats.Semantic proximity Read ↗

Comparison of polymerase chain reaction-restriction fragment length polymorphism assay and enzyme assay for diagnosis of G(M1)-gangliosidosis in Shiba dogs.Semantic proximity Read ↗

GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.Semantic proximity Read ↗

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