ArticleJournal of feline medicine and surgery2012
Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.
Article in Journal of feline medicine and surgery, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Impact of Sinbaglustat on Neurons of the Medial Nucleus of the Trapezoid Body in a Murine Model of Human GJournal of clinical medicine · 2026Article
- Novel insights into pathomechanisms of retinal neuronal degeneration and reactive gliosis in a murine model of GScientific reports · 2025Article
- Tracking footprints of artificial and natural selection signatures in breeding and non-breeding cats.Scientific reports · 2022Article
- Axonopathy and Reduction of Membrane Resistance: Key Features in a New Murine Model of Human GJournal of clinical medicine · 2020Article
- In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses.BMC veterinary research · 2016Article
- GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan.The Journal of veterinary medical science · 2016Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 the disease in the USA and Italy, respectively. The present study demonstrated the same mutation in a Siamese cat that had been diagnosed with GM1 gangliosidosis in Japan in the 1960s. The mutation was confirmed using DNA extracted from stored paraffin-embedded brain tissue by a direct sequencing method and a polymerase chain reaction-restriction fragment length polymorphism assay. This pathogenic mutation seems to have been distributed around the world.
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Registered trials
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