Identification of an Allosteric Binding Site on Human Lysosomal Alpha-Galactosidase Opens the Way to New Pharmacological Chaperones for Fabry Disease

Taming molecular flexibility to tackle rare diseases

(2015) Maria Vittoria Cubellis et al.   BIOCHIMIE

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

(2015) Jan Lukas et al.   HUMAN MUTATION

Enzyme Enhancers for the Treatment of Fabry and Pompe Disease

(2015) Jan Lukas et al.   MOLECULAR THERAPY

Drug repositioning can accelerate discovery of pharmacological chaperones

(2015) Bruno Hay Mele et al.   Orphanet Journal of Rare Diseases

Molecular Basis of 1-Deoxygalactonojirimycin Arylthiourea Binding to Human α-Galactosidase A: Pharmacological Chaperoning Efficacy on Fabry Disease Mutants

(2014) Yi Yu et al.   ACS Chemical Biology

A thermodynamic assay to test pharmacological chaperones for Fabry disease

(2013) Giuseppina Andreotti et al.   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Identification and analysis of conserved pockets on protein surfaces

(2013) Marco Cammisa et al.   BMC BIOINFORMATICS

Enhancing Molecular Shape Comparison by Weighted Gaussian Functions

(2013) Xin Yan et al.   Journal of Chemical Information and Modeling

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population, safety and pharmacodynamic effects

(2013) R. Giugliani et al.   MOLECULAR GENETICS AND METABOLISM

Cost-effectiveness of enzyme replacement therapy for Fabry disease

(2013) Saskia M Rombach et al.   Orphanet Journal of Rare Diseases

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones

(2013) Marco Cammisa et al.   Orphanet Journal of Rare Diseases

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease

(2013) Jan Lukas et al.   PLoS Genetics

Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation

(2013) Giuseppina Andreotti et al.   Molecular Genetics & Genomic Medicine

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

(2012) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

(2012) Dominique P Germain et al.   Orphanet Journal of Rare Diseases

2,6-Dithiopurine, a nucleophilic scavenger, protects against mutagenesis in mouse skin treated in vivo with 2-(chloroethyl) ethyl sulfide, a mustard gas analog

(2012) Stephen Boulware et al.   TOXICOLOGY AND APPLIED PHARMACOLOGY

The Molecular Basis of Pharmacological Chaperoning in Human α-Galactosidase

(2011) Abigail I. Guce et al.   CHEMISTRY & BIOLOGY

A pharmacogenetic approach to identify mutant forms of α-galactosidase a that respond to a pharmacological chaperone for Fabry disease

(2011) Xiaoyang Wu et al.   HUMAN MUTATION

Molecular mechanism for stabilization of a mutant α-galactosidase A involving M51I amino acid substitution by imino sugars

(2011) Takahiro Tsukimura et al.   MOLECULAR GENETICS AND METABOLISM

SDM--a server for predicting effects of mutations on protein stability and malfunction

(2011) C. L. Worth et al.   NUCLEIC ACIDS RESEARCH

Looking-Glass Synergistic Pharmacological Chaperones: DGJ and L-DGJ from the Enantiomers of Tagatose

(2011) Sarah F. Jenkinson et al.   ORGANIC LETTERS

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

(2011) Giuseppina Andreotti et al.   Orphanet Journal of Rare Diseases

2,6-Dithiopurine Blocks Toxicity and Mutagenesis in Human Skin Cells Exposed to Sulfur Mustard Analogues, 2-Chloroethyl Ethyl Sulfide and 2-Chloroethyl Methyl Sulfide

(2010) K. Leslie Powell et al.   CHEMICAL RESEARCH IN TOXICOLOGY

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase

(2010) Richie Khanna et al.   FEBS Journal

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

(2010) Giuseppina Andreotti et al.   Orphanet Journal of Rare Diseases

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

Effects of a chemical chaperone on genetic mutations in α-galactosidase A in Korean patients with Fabry disease

(2009) Jung-Young Park et al.   EXPERIMENTAL AND MOLECULAR MEDICINE

The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines

(2009) E. R. Benjamin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Determining protein stability in cell lysates by pulse proteolysis and Western blotting

(2009) Moon-Soo Kim et al.   PROTEIN SCIENCE

Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone

(2008) Masaaki Shimotori et al.   HUMAN MUTATION

Lead Finder: An Approach To Improve Accuracy of Protein−Ligand Docking, Binding Energy Estimation, and Virtual Screening

(2008) Oleg V. Stroganov et al.   Journal of Chemical Information and Modeling

Preclinical Efficacy and Safety of 1-Deoxygalactonojirimycin in Mice for Fabry Disease

(2008) S. Ishii et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone

(2008) Sang H. Shin et al.   Pharmacogenetics and Genomics