Article
Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis.
Acta neuropathologica - 1 Nov 2005
Martin Douglas R, Cox Nancy R, Morrison Nancy E, Kennamer David M, Peck Stephanie L, Dodson Arlene N, Gentry Atoska S, Griffin Brenda, Rolsma Mark D, Baker Henry J
Abstract excerpt
The G(M2) activator protein is required for successful degradation of G(M2) ganglioside by the A isozyme of lysosomal beta-N-acetylhexosaminidase (EC 3.2.1.52). Deficiency of the G(M2) activator protein leads to a relentlessly progressive accumulation of G(M2) ganglioside in neuronal lysosomes and subsequent fatal deterioration of central nervous system function. G(M2) activator deficiency has been described in...
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