Computational analysis of human N-acetylgalactosamine-6-sulfate sulfatase enzyme: an update in genotype–phenotype correlation for Morquio A

Construcción de un vector de expresión derivado de virus adenoasociados para corregir in vitro el defecto genético de la enfermedad de Morquio A

(2014) Luis Alejandro Barrera et al.   Biomedica

GROMACS 4.5: a high-throughput and highly parallel open source molecular simulation toolkit

(2013) Sander Pronk et al.   BIOINFORMATICS

Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA

(2013) Francyne Kubaski et al.   GENE

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Mucopolysaccharidosis IVA: Correlation between genotype, phenotype and keratan sulfate levels

(2013) Vũ Chí Dũng et al.   MOLECULAR GENETICS AND METABOLISM

The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A

(2012) Yadilette Rivera-Colón et al.   JOURNAL OF MOLECULAR BIOLOGY

Enzyme replacement success in Phase III trial for rare metabolic disorder

(2012) Sarah Crunkhorn   NATURE REVIEWS DRUG DISCOVERY

Characterization of a recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in E. coli for enzyme replacement therapy of Morquio A disease

(2012) Angela Mosquera et al.   PROCESS BIOCHEMISTRY

Mucopolysaccharidosis Type IVA (Morquio A Disease): Clinical Review and Current Treatment: A Special Review

(2011) S. Tomatsu et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

MEGA5: Molecular Evolutionary Genetics Analysis Using Maximum Likelihood, Evolutionary Distance, and Maximum Parsimony Methods

(2011) K. Tamura et al.   MOLECULAR BIOLOGY AND EVOLUTION

Adeno-associated virus gene transfer in Morquio A disease - effect of promoters and sulfatase-modifying factor 1

(2010) Carlos J. Alméciga-Díaz et al.   FEBS Journal

Enzyme replacement therapy for Morquio A: an active recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Escherichia coli BL21

(2010) Alexander Rodríguez et al.   JOURNAL OF INDUSTRIAL MICROBIOLOGY & BIOTECHNOLOGY

Enhancement of Drug Delivery: Enzyme-replacement Therapy for Murine Morquio A Syndrome

(2010) Shunji Tomatsu et al.   MOLECULAR THERAPY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Enzyme Replacement in a Human Model of Mucopolysaccharidosis IVA In Vitro and Its Biodistribution in the Cartilage of Wild Type Mice

(2010) Melita Dvorak-Ewell et al.   PLoS One

Interaction of arylsulfatase-A (ASA) with its natural sulfoglycolipid substrates: a computational and site-directed mutagenesis study

(2009) Matthias Schenk et al.   GLYCOCONJUGATE JOURNAL

I-TASSER server for protein 3D structure prediction

(2008) Yang Zhang   BMC BIOINFORMATICS

Effect of elongation factor 1α promoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase

(2008) Carlos J. Alméciga-Díaz et al.   MOLECULAR BIOLOGY REPORTS

Structural and clinical implications of amino acid substitutions in N-acetylgalactosamine-4-sulfatase: Insight into mucopolysaccharidosis type VI

(2008) Seiji Saito et al.   MOLECULAR GENETICS AND METABOLISM