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Intracellular transport of acid beta-glucosidase and lysosome-associated membrane proteins is affected in Gaucher's disease (G202R mutation)

Autor: K P, Zimmer, P, le Coutre, H M, Aerts, K, Harzer, M, Fukuda, J S, O'Brien, H Y, Naim

Publikováno v: The Journal of pathology. 188(4)

Gaucher's disease (GD) is caused by an inherited deficiency of acid beta-glucosidase with storage of glucosylceramides in the lysosomes of macrophages. This study identifies a G202R mutation in the acid beta-glucosidase gene in an infant with severe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::8774de5a6b7b64020df89a6a979e9222
https://pubmed.ncbi.nlm.nih.gov/10440752

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Mannose 6-phosphate-independent membrane association of cathepsin D, glucocerebrosidase, and sphingolipid-activating protein in HepG2 cells

Autor: S, Rijnboutt, H M, Aerts, H J, Geuze, J M, Tager, G J, Strous

Publikováno v: The Journal of biological chemistry. 266(8)

The membrane association of the lysosomal enzymes cathepsin D and glucocerebrosidase and its naturally occurring sphingolipid activating protein was studied in HepG2 cells. We differentially permeabilized cells with low concentrations of saponin, at

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::72c2ddacab3ae32637dcf9346791a926
https://pubmed.ncbi.nlm.nih.gov/1848227

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