Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.

The properties of control and 370Asn-->Ser glucocerebrosidase, the frequently encountered mutated form of the enzyme in type 1 Gaucher disease, were studied in vitro as well as in situ. The catalytic properties of purified 370Asn-->Ser glucocerebrosidase were highly dependent on the assay conditions...

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Veröffentlicht in:	J Clin Invest
Hauptverfasser:	van Weely, S, van den Berg, M, Barranger, J A, Sa Miranda, M C, Tager, J M, Aerts, J M
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	American Society for Clinical Investigation 1993
Schlagworte:	Research Article
Online-Zugang:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC288073/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8450045/ https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI116276
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