Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant.

Lysosomal degradation of ganglioside GM2 by beta-hexosaminidase A (hex A) requires the presence of the GM2 activator protein (GM2AP) as an essential cofactor. A deficiency of the GM2 activator causes the AB variant of GM2 gangliosidosis, a recessively inherited disorder characterized by excessive ne...

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Main Authors: Schepers, U., Glombitza, G., Lemm, T., Hoffmann, A., Chabas, A., Ozand, P., Sandhoff, K.
Formato: Artigo
Idioma:Inglês
Publicado: 1996
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1914821/
https://ncbi.nlm.nih.gov/pubmed/8900233
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