The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C
about
Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370SThe role of saposin C in Gaucher diseaseMitochondrial dysfunction associated with glucocerebrosidase deficiencyDetection of ligand binding hot spots on protein surfaces via fragment-based methods: application to DJ-1 and glucocerebrosidase.X-ray and biochemical analysis of N370S mutant human acid β-glucosidase.Molecular imaging of membrane interfaces reveals mode of beta-glucosidase activation by saposin C.Lipid composition of microdomains is altered in a cell model of Gaucher disease.Isofagomine- and 2,5-anhydro-2,5-imino-D-glucitol-based glucocerebrosidase pharmacological chaperones for Gaucher disease intervention.Glycosylation- and phosphorylation-dependent intracellular transport of lysosomal hydrolases.Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson diseaseA Guided Tour of the Structural Biology of Gaucher Disease: Acid-β-Glucosidase and Saposin C.The Role of Lipids Interacting with α-Synuclein in the Pathogenesis of Parkinson's Disease.Optimal therapy in Gaucher diseaseIntracellular Cholesterol Trafficking and Impact in Neurodegeneration.The lipoprotein receptor-related protein-1 (LRP) adapter protein GULP mediates trafficking of the LRP ligand prosaposin, leading to sphingolipid and free cholesterol accumulation in late endosomes and impaired efflux.Beyond the lysosome: Cholesterol role on endoplasmic reticulum and lipid droplets in Parkinson's disease.
P2860
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P2860
The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C
description
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The N370S (Asn370-->Ser) mutat ...... aining membranes and saposin C
@en
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label
The N370S (Asn370-->Ser) mutat ...... aining membranes and saposin C
@en
prefLabel
The N370S (Asn370-->Ser) mutat ...... aining membranes and saposin C
@en
P2093
P2860
P356
P1433
P1476
The N370S (Asn370-->Ser) mutat ...... aining membranes and saposin C
@en
P2093
Anna Maria Vaccaro
Fiorella Ciaffoni
Massimo Tatti
Rosa Salvioli
Roscoe O Brady
Sabrina Maria Moavero
Susanna Scarpa
P2860
P304
P356
10.1042/BJ20050325
P407
P577
2005-08-01T00:00:00Z