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A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable.

The lysosomal disorder galactosialidosis is caused by deficiency of the protective protein in the absence of which the activities of the enzymes beta-galactosidase and neuraminidase are reduced. Aside from its protective function towards the two glycosidases, this protein has cathepsin A-like activi...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: Zhou, X Y, Galjart, N J, Willemsen, R, Gillemans, N, Galjaard, H, d'Azzo, A
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: 1991
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC453152/
https://ncbi.nlm.nih.gov/pubmed/1756715
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