A5008798978- Solidification and crystal growth phenomena
- Lysosomal Storage Disorders Research
- Connective tissue disorders research
- Crystallization and Solubility Studies
- nanoparticles nucleation surface interactions
- Fibroblast Growth Factor Research
- Metallurgical Processes and Thermodynamics
- Carbohydrate Chemistry and Synthesis
- Trypanosoma species research and implications
- Advanced Semiconductor Detectors and Materials
- Glycogen Storage Diseases and Myoclonus
- Bone health and treatments
- Aluminum Alloy Microstructure Properties
- Planetary Science and Exploration
- Dermatological and Skeletal Disorders
- Proteoglycans and glycosaminoglycans research
- Chalcogenide Semiconductor Thin Films
- Spacecraft and Cryogenic Technologies
- Minerals Flotation and Separation Techniques
- Metabolism and Genetic Disorders
- Bone Metabolism and Diseases
- Fluid Dynamics and Thin Films
- Cell Adhesion Molecules Research
- Semiconductor Quantum Structures and Devices
- Freezing and Crystallization Processes
Emory University
2015-2024
Clarkson University
1999-2020
Bridge University
2020
University of California, Los Angeles
2006-2016
University of Graz
2016
Hospital Italiano de Montevideo
2016
Medical University of Graz
2016
Cedars-Sinai Medical Center
2006-2015
BioMarin (United States)
2015
Children's Hospital of Orange County
2013
Fabry's disease, lysosomal alpha-galactosidase A deficiency, results from the progressive accumulation of globotriaosylceramide and related glycosphingolipids. Affected patients have microvascular disease kidneys, heart, brain.We evaluated safety effectiveness recombinant in a multicenter, randomized, placebo-controlled, double-blind study 58 who were treated every 2 weeks for 20 weeks. Thereafter, all received an open-label extension study. The primary efficacy end point was percentage whom...
Background: Fabry disease (α-galactosidase A deficiency) is a rare, X-linked lysosomal storage disorder that can cause early death from renal, cardiac, and cerebrovascular involvement. Objective: To see whether agalsidase beta delays the onset of composite clinical outcome cardiovascular, events in patients with advanced disease. Design: Randomized (2:1 treatment-to-placebo randomization), double-blind, placebo-controlled trial. Setting: 41 referral centers 9 countries. Patients: 82 adults...
Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, oral pharmacologic chaperone, stabilizes specific mutant forms α-galactosidase, increasing enzyme trafficking lysosomes.The initial assay that we used categorize 67 patients with disease for randomization 6 months double-blind migalastat or placebo (stage 1), followed by open-label from 12 2) plus additional year, had certain limitations. Before...
The structure of a protein can be analysed in terms what may called the “hydrophobic moments” (1) entire molecule and (2) segments secondary that make up polypeptide chain. zeroth moment is defined as sum hydrophobicities amino-acid residues under consideration; it analogue net charge cluster point charges. first moment, or hydrophobic dipole electric Just measures asymmetry distribution, amphiphilicity (asymmetry hydrophobicity) structure. A large indicates predominantly on one side...
Fabry disease, an inherited deficiency of the lysosomal enzyme α-galactosidase A, causes progressive intralysosomal accumulation globotriaosylceramide (GL-3) and premature death from renal, cardiac, cerebrovascular manifestations. To determine long-term safety efficacy recombinant human open-label, phase III extension study was conducted, involving 58 patients who had classic disease completed a 20-wk, double-blind, randomized, placebo-controlled, agalsidase β were transitioned to trial...
Background. In Fabry disease, progressive glycolipid accumulation leads to organ damage and early demise, but the incidence of renal, cardiac cerebrovascular events has not been well characterized.
<h3>Background</h3> Fabry disease is an X-linked lysosomal storage disorder caused by <i>GLA</i> mutations, resulting in α-galactosidase (α-Gal) deficiency and accumulation of substrates. Migalastat, oral pharmacological chaperone being developed as alternative to intravenous enzyme replacement therapy (ERT), stabilises specific mutant (<i>amenable</i>) forms α-Gal facilitate normal trafficking. <h3>Methods</h3> The main objective the 18-month, randomised, active-controlled ATTRACT study was...
<h3>Background</h3> Fabry disease results from deficient α-galactosidase A activity and globotriaosylceramide accumulation causing renal insufficiency, strokes, hypertrophic cardiomyopathy early demise. We assessed the 10-year outcome of recombinant therapy. <h3>Methods</h3> The outcomes (severe clinical events, function, cardiac structure) 52/58 patients with classic phase 3 trial extension study, Registry were evaluated. Disease progression rates for low involvement (LRI, n=32) or high...
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene. Migalastat, a pharmacological chaperone, binds to specific mutant forms of restore activity.A pharmacogenetic assay was used identify amenable migalastat. Six hundred disease-causing were expressed HEK-293 (HEK) cells; increases activity measured good laboratory practice (GLP)-validated (GLP HEK/Migalastat Amenability Assay). The predictive value assessed based on pharmacodynamic...
During the last few years, it has been demonstrated that some syndromic craniosynostosis and short-limb dwarfism syndromes, a heterogeneous group comprising of 11 distinct clinical entities, are caused by mutations in one three fibroblast growth factor receptor genes (FGFR1, FGFR2, FGFR3). The present review list all described to date these phenotypes associated with them. In addition, tentative phenotype-genotype correlation is discussed, including most suggested causative mechanisms for...