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

Deep clustering of protein folding simulations

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Evaluation of Dimensionality-Reduction Methods from Peptide Folding–Unfolding Simulations

(2013) Mojie Duan et al.   Journal of Chemical Theory and Computation

The role of saposin C in Gaucher disease

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Gaucher disease gene GBA functions in immune regulation

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MDAnalysis: A toolkit for the analysis of molecular dynamics simulations

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Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form — No positive effects after 2-years of miglustat therapy

(2011) Anna Tylki-Szymańska et al.   MOLECULAR GENETICS AND METABOLISM

CPORT: A Consensus Interface Predictor and Its Performance in Prediction-Driven Docking with HADDOCK

(2011) Sjoerd J. de Vries et al.   PLoS One

Comparison of a molecular dynamics model with the X-ray structure of the N370S acid- -glucosidase mutant that causes Gaucher disease

(2011) M. N. Offman et al.   PROTEIN ENGINEERING DESIGN & SELECTION

Clinical and genetic characteristics of Korean patients with Gaucher disease

(2010) Seon-Yong Jeong et al.   BLOOD CELLS MOLECULES AND DISEASES

Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant

(2010) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

Molecular Basis of Reduced Glucosylceramidase Activity in the Most Common Gaucher Disease Mutant, N370S

(2010) Marc N. Offman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Glucocerebrosidase Gene L444P mutation is a risk factor for Parkinson's disease in Chinese population

(2010) Qi-Ying Sun et al.   MOVEMENT DISORDERS

The HADDOCK web server for data-driven biomolecular docking

(2010) Sjoerd J de Vries et al.   Nature Protocols

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

(2010) P. K. Mistry et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of the binding and activating sites of the sphingolipid activator protein, saposin C, with glucocerebrosidase

(2010) Solly Weiler et al.   PROTEIN SCIENCE

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

(2009) Tamar H. Taddei et al.   AMERICAN JOURNAL OF HEMATOLOGY

Lysosomal degradation of membrane lipids

(2009) Thomas Kolter et al.   FEBS LETTERS

Constructing the equilibrium ensemble of folding pathways from short off-equilibrium simulations

(2009) Frank Noé et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Principles of lysosomal membrane degradation

(2008) Heike Schulze et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Recent Progress and Future Directions in Protein-Protein Docking

(2008) David Ritchie   CURRENT PROTEIN & PEPTIDE SCIENCE

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

(2008) Kathleen S. Hruska et al.   HUMAN MUTATION

Phenotype, diagnosis, and treatment of Gaucher's disease

(2008) Gregory A Grabowski   LANCET

Crystal Structures of Human Saposins C and D: Implications for Lipid Recognition and Membrane Interactions

(2008) Maxim Rossmann et al.   STRUCTURE