AIMC Topic: Glucosylceramidase

Clear Filters Showing 1 to 2 of 2 articles

Identification of risk features for complication in Gaucher's disease patients: a machine learning analysis of the Spanish registry of Gaucher disease.

Orphanet journal of rare diseases Sep 22, 2020
BACKGROUND: Since enzyme replacement therapy for Gaucher disease (MIM#230800) has become available, both awareness of and the natural history of the disease have changed. However, there remain unmet needs such as the identification of patients at ris...
Humans Machine Learning Female Risk Factors Adult Male Incidence Registries Gaucher Disease Glucosylceramidase Enzyme Replacement Therapy
View on PubMed DOI

Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep learning.

Proceedings of the National Academy of Sciences of the United States of America Feb 26, 2019
The lysosomal enzyme glucocerebrosidase-1 (GCase) catalyzes the cleavage of a major glycolipid glucosylceramide into glucose and ceramide. The absence of fully functional GCase leads to the accumulation of its lipid substrates in lysosomes, causing G...
Humans Deep Learning Protein Interaction Maps Gaucher Disease Molecular Dynamics Simulation Catalytic Domain Hydrogen Bonding Enzyme Activation Protein Structure, Secondary Mutant Proteins Glucosylceramidase Saposins
View on PubMed DOI
Popular Topics
Recent Journals