Literature summary for 3.2.1.45 extracted from

Wang, F.; Chou, A.; Segatori, L.
Lacidipine remodels protein folding and Ca2+ homeostasis in Gauchers disease fibroblasts: A mechanism to rescue mutant glucocerebrosidase (2011), Chem. Biol., 18, 766-776.

Search for more literature for 3.2.1.45

Protein Variants

Protein Variants	Comment	Organism
L444P	lacidipine is found to rescue the activity of glucocerebrosidase variants carrying the two most common mutations, L444P and N370S, in Gaucher disease patient-derived fibroblasts. Treatment of patient-derived fibroblasts with lacidipine leads to rescue of folding, lysosomal trafficking, and activity of mutated glucocerebrosidase variants	Homo sapiens
N370S	lacidipine is found to rescue the activity of glucocerebrosidase variants carrying the two most common mutations, L444P and N370S, in Gaucher disease patient-derived fibroblasts. Treatment of patient-derived fibroblasts with lacidipine leads to rescue of folding, lysosomal trafficking, and activity of mutated glucocerebrosidase variants	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
glucocerebrosidase	-	Homo sapiens

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Release 2023.1 (January 2023)