OMIA 000402-9913 : Gangliosidosis, GM1 in Bos taurus

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

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 230500 , 230650

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.

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., Kelly, M. :
Beta-galactosidase deficiency in GM1 gangliosidosis in Friesian calves Research in Veterinary Science 15:139-141, 1973. Pubmed reference: 4778483.
Donnelly, W.J.C., Sheahan, B.J., Rogers, T.A. :
G-M-1-gangliosidosis in Friesian calves Journal of Pathology 111:173-179, 1973. Pubmed reference: 4128200. DOI: 10.1002/path.1711110305.

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  • Created by Frank Nicholas on 06 Sep 2005