Title : Juvenile GM2 gangliosidosis (AMB variant): inability to activate hexosaminidase A by activator protein.

Pub. Date : 1983 Jul

PMID : 6224417






4 Functional Relationships(s)
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1 However, the HEX A from the patient"s brain and liver as well as from skin fibroblast lysates could not be activated to hydrolyze GM2 ganglioside by the activator protein from a control or himself. G(M2) Ganglioside hexosaminidase subunit alpha Homo sapiens
2 These patients appear to have a defect in HEX A, which does not affect it heat stability, electrophoretic migration, and activity toward fluorogenic substrates, but may affect the binding of the activator protein required for GM2 ganglioside hydrolysis. G(M2) Ganglioside hexosaminidase subunit alpha Homo sapiens
3 We propose to call these patients the AMB variant of GM2 gangliosidosis to denote the mutation in HEX A but with normal levels of HEX A and B with synthetic substrates. gm2 hexosaminidase subunit alpha Homo sapiens
4 We propose to call these patients the AMB variant of GM2 gangliosidosis to denote the mutation in HEX A but with normal levels of HEX A and B with synthetic substrates. gm2 hexosaminidase subunit alpha Homo sapiens