Related references
Note: Only part of the references are listed.Catalytic Mechanism of the Arylsulfatase Promiscuous Enzyme from Pseudomonas Aeruginosa
Tiziana Marino et al.
CHEMISTRY-A EUROPEAN JOURNAL (2013)
The final frontier - crossing the blood-brain barrier
William S. Sly et al.
EMBO MOLECULAR MEDICINE (2013)
A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA
Nicolina Cristina Sorrentino et al.
EMBO MOLECULAR MEDICINE (2013)
Molecular characterization of 355 mucopolysaccharidosis patients reveals 104 novel mutations
Laura M. Pollard et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
Pharmacological Chaperones as Therapeutics for Lysosomal Storage Diseases
Robert E. Boyd et al.
JOURNAL OF MEDICINAL CHEMISTRY (2013)
The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A
Yadilette Rivera-Colon et al.
JOURNAL OF MOLECULAR BIOLOGY (2012)
Linking Crystallographic Model and Data Quality
P. Andrew Karplus et al.
SCIENCE (2012)
REFMAC5 for the refinement of macromolecular crystal structures
Garib N. Murshudov et al.
ACTA CRYSTALLOGRAPHICA SECTION D-STRUCTURAL BIOLOGY (2011)
Overview of the CCP4 suite and current developments
Martyn D. Winn et al.
ACTA CRYSTALLOGRAPHICA SECTION D-STRUCTURAL BIOLOGY (2011)
Incidence and Natural History of Mucopolysaccharidosis Type III in France and Comparison with United Kingdom and Greece
Benedicte Heron et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
Residual Activity and Proteasomal Degradation of p.Ser298Pro Sulfamidase Identified in Patients With a Mild Clinical Phenotype of Sanfilippo A Syndrome
Nicole Muschol et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
XDS
Wolfgang Kabsch
ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY (2010)
Features and development of Coot
P. Emsley et al.
ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY (2010)
Mucopolysaccharidosis Type IIIA: Clinical Spectrum and Genotype-Phenotype Correlations
Marlies J. Valstar et al.
ANNALS OF NEUROLOGY (2010)
A new bioinformatics analysis tools framework at EMBL-EBI
Mickael Goujon et al.
NUCLEIC ACIDS RESEARCH (2010)
An efficient, multiply promiscuous hydrolase in the alkaline phosphatase superfamily
Bert van Loo et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
An Introduction to Biomolecular Graphics
Cameron Mura et al.
PLOS COMPUTATIONAL BIOLOGY (2010)
Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis
Ewa Piotrowska et al.
ACTA PAEDIATRICA (2009)
Lysosomal disorders: From storage to cellular damage
Andrea Ballabio et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2009)
Heparin/Heparan Sulfate N-Sulfamidase from Flavobacterium heparinum STRUCTURAL AND BIOCHEMICAL INVESTIGATION OF CATALYTIC NITROGEN-SULFUR BOND CLEAVAGE
James R. Myette et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2009)
Crystallographic ab initio protein structure solution below atomic resolution
Dayte D. Rodriguez et al.
NATURE METHODS (2009)
Improved prediction of protein side-chain conformations with SCWRL4
Georgii G. Krivov et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2009)
The mucopolysaccharidoses: a success of molecular medicine
Lorne A. Clarke
EXPERT REVIEWS IN MOLECULAR MEDICINE (2008)
The mutation p.Ser298Pro in the sulphamidase gene (SGSH) is associated with a slowly progressive clinical phenotype in mucopolysaccharidosis type IIIA (Sanfilippo A syndrome)
Ann Meyer et al.
HUMAN MUTATION (2008)
mtz2sca and mtz2hkl:: facilitated transition from CCP4 to the SHELX program suite
Tim Grune
JOURNAL OF APPLIED CRYSTALLOGRAPHY (2008)
PROMALS3D: a tool for multiple protein sequence and structure alignments
Jimin Pei et al.
NUCLEIC ACIDS RESEARCH (2008)
Inference of macromolecular assemblies from crystalline state
Evgeny Krissinel et al.
JOURNAL OF MOLECULAR BIOLOGY (2007)
Phaser crystallographic software
Airlie J. McCoy et al.
JOURNAL OF APPLIED CRYSTALLOGRAPHY (2007)
Drug targeting to the brain
William M. Pardridge
PHARMACEUTICAL RESEARCH (2007)
The Buccaneer software for automated model building.: 1.: Tracing protein chains
Kevin Cowtan
ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY (2006)
Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders
F Fiorentino et al.
HUMAN REPRODUCTION (2006)
Cumulative incidence rates of the mucopolysaccharidoses in Germany
F Baehner et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Early diagnosis of mucopolysaccharidosis III A with a nonsense mutation and two de novo missense mutations in SGSH gene
S Bekri et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme
T Dierks et al.
CELL (2005)
An adult Sanfilippo type a patient with homozygous mutation R206P in the sulfamidase gene
O Gabrielli et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2005)
Transport, enzymatic activity, and stability of mutant sulfamidise (SGSH) identified iin patients with mucopolysaccharidosis type III A
N Muschol et al.
HUMAN MUTATION (2004)
Mutations in classical late infantile neuronal ceroid lipofuscinosis disrupt transport of tripeptidyl-peptidase I to lysosomes
R Steinfeld et al.
HUMAN MOLECULAR GENETICS (2004)
Crystal structure of a covalent intermediate of endogenous human arylsulfatase A
M Chruszcz et al.
JOURNAL OF INORGANIC BIOCHEMISTRY (2003)
Structure of human estrone sulfatase suggests functional roles of membrane association
FG Hernandez-Guzman et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Analysis of Sanfilippo A gene mutations in a large pedigree
P Di Natale et al.
CLINICAL GENETICS (2003)
Structure validation by Cα geometry:: φ,ψ and Cβ deviation
SC Lovell et al.
PROTEINS-STRUCTURE FUNCTION AND GENETICS (2003)
Is the bond-valence method able to identify metal atoms in protein structures?
P Muller et al.
ACTA CRYSTALLOGRAPHICA SECTION D-BIOLOGICAL CRYSTALLOGRAPHY (2003)
An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene
T Miyazaki et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2002)
Structural requirements for high-affinity heparin binding: Alanine scanning analysis of charged residues in the C-terminal domain of human extracellular superoxide dismutase
P Stenlund et al.
BIOCHEMISTRY (2002)
Identification and characterization of mutations underlying Sanfilippo syndrome type A (mucopolysaccharidosis type IIIA)
GJ Lee-Chen et al.
CLINICAL GENETICS (2002)
Heparan N-sulfatase:: cysteine 70 plays a role in the enzyme catalysis and processing
A Daniele et al.
FEBS LETTERS (2001)
1.3 Å structure of arylsulfatase from Pseudomonas aeruginosa establishes the catalytic mechanism of sulfate ester cleavage in the sulfatase family
I Boltes et al.
STRUCTURE (2001)
Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients:: Possible single origin for 1091delC mutation
A Chabás et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)
Heparan N-sulfatase:: In vitro mutagenesis of potential N-glycosylation sites
P Di Natale et al.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS (2001)
Crystal structure of an enzyme-substrate complex provides insight into the interaction between human arylsulfatase A and its substrates during catalysis
R von Bülow et al.
JOURNAL OF MOLECULAR BIOLOGY (2001)
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
G Yogalingam et al.
HUMAN MUTATION (2001)
Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations
CE Beesley et al.
JOURNAL OF MEDICAL GENETICS (2000)
Heparan N-sulfatase gene:: two novel mutations and transient expression of 15 defects
S Esposito et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2000)