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OMIA:000402-9913 : Gangliosidosis, GM1 in Bos taurus (taurine cattle)

In other species: emu , dog , domestic cat , sheep

Categories: Lysosomal storage disease

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 230500 (trait) , 230650 (trait) , 230600 (trait) , 253010 (trait) , 611458 (gene)

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: no

Cross-species summary: A lysosomal storage disease in which there is a buildup (storage) of GM1 gangliosides (a type of glycolipid) in various tissues, due to the lack of the enzyme beta-galactosidase, whose task is to break down the GM1 ganglioside into its constituents. Characterised by progressive neuromuscular dysfunction and impaired growth from an early age.

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2005). OMIA:000402-9913: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

References

Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

1992 Figueras, A., Moralesolivas, F.J., Capella, D., Palop, V., Laporte, J.R. :
Bovine gangliosides and acute motor polyneuropathy. British Medical Journal 305:1330-1331, 1992. Pubmed reference: 1309191.
1981 Donnelly, W.J.C., Sheahan, B.J. :
GM1 gangliosidosis of Friesian calves: a review Irish Veterinary Journal 35:45-55, 1981.
1978 Sheahan, BJ., Donnelly, WJ., Grimes, TD. :
Ocular pathology of bovine GM1 gangliosidosis. Acta Neuropathol 41:91-5, 1978. Pubmed reference: 416644.
1977 Donnelly, W.J.C., Sheahan, B.J. :
Bovine GM1 gangliosidosis: an inborn lysosomal disease Veterinary Science Communications 1:65-74, 1977.
Johnson, AH., Donnelly, WJ., Sheahan, BJ. :
The glycosaminoglycan content of the liver in bovine GM1 gangliosidosis. Res Vet Sci 22:256-66, 1977. Pubmed reference: 404680.
Sheahan, BJ., Roche, E., Donnelly, WJ. :
Studies on cultured skin fibroblasts from calves with GM1 gangliosidosis. J Comp Pathol 87:205-11, 1977. Pubmed reference: 16043.
1975 Donnelly, W.J.C., Sheahan, B.J. :
G-m-1-gangliosidosis type II. Bovine G-m-1-gangliosidosis, cerebrospinal lipodosis of Friesian cattle American Journal of Pathology 81:255-258, 1975. Pubmed reference: 810033.
1974 Sheahan, B.J., Donnelly, W.J.C. :
Enzyme histochemical and ultrastructural alterations in the brains of Friesian calves with G-m1 gangliosidosis Acta Neuropathologia 30:73-84, 1974.
1973 Donnelly, W.J.C., Sheahan, B.J., Rogers, T.A. :
GM1-gangliosidosis in Friesian calves Journal of Pathology 111:173-179, 1973. Pubmed reference: 4128200. DOI: 10.1002/path.1711110305.
Donnelly, W.J.C., Sheahan, B.J., Kelly, M. :
Beta-galactosidase deficiency in GM1 gangliosidosis in Friesian calves Research in Veterinary Science 15:139-141, 1973. Pubmed reference: 4778483.

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  • Created by Frank Nicholas on 06 Sep 2005