(Q37605710)

21 August 2017

1 reference

title

Structural aspects of therapeutic enzymes to treat metabolic disorders (English)

1 reference

21 August 2017

Tse Siang Kang

1

1 reference

21 August 2017

Raymond C Stevens

series ordinal

2

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21 August 2017

publication date

1 December 2009

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21 August 2017

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21 August 2017

volume

30

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21 August 2017

issue

12

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21 August 2017

page(s)

1591-1610

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Two site-directed mutations abrogate enzyme activity but have different effects on the conformation and cellular content of the N-acetylgalactosamine 4-sulphatase protein

21 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

Processing of iduronate 2-sulphatase in human fibroblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

Mucopolysaccharidosis type II: an update on mutation spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

Structure-function relationships in alpha-galactosidase A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

New families in the classification of glycosyl hydrolases based on amino acid sequence similarities

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

Human lysosomal alpha-glucosidase: functional characterization of the glycosylation sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

Components and proteolytic processing sites of arylsulfatase B from human placenta

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

Expression of recombinant human phenylalanine hydroxylase as fusion protein in Escherichia coli circumvents proteolytic degradation by host cell proteases. Isolation and characterization of the wild-type enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Fabry disease: twenty novel alpha-galactosidase A mutations causing the classical phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Comparison of N-acyl phosphatidylethanolamines with different N-acyl groups as activators of glucocerebrosidase in various forms of Gaucher's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Substrate reduction therapy in the infantile form of Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Gaucher disease mutations in non-Jewish patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Hematologically important mutations: Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Gaucher disease: multiple lessons from a single gene disorder

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Lysosomal storage diseases: natural history and ethical and economic aspects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

A sensitive mutation screening strategy for Fabry disease: detection of nine mutations in the alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Fabry disease: 20 novel GLA mutations in 35 families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Genetic engineering of a lysosomal enzyme fusion protein for targeted delivery across the human blood-brain barrier

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Structure of a human lysosomal sulfatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

The metabolism of sphingomyelin. II. Evidence of an enzymatic deficiency in Niemann-Pick diseae

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Enzyme replacement for lysosomal diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

The three-dimensional structures of mutants of porphobilinogen deaminase: toward an understanding of the structural basis of acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Structural comparison of differently glycosylated forms of acid-β-glucosidase, the defective enzyme in Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Conformational disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Enzyme replacement therapy for Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Crystal structure of a covalent intermediate of endogenous human arylsulfatase A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Kinetic characterization of hypophosphatasia mutations with physiological substrates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Active-site motifs of lysosomal acid hydrolases: invariant features of clan GH-A glycosyl hydrolases deduced from hydrophobic cluster analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

X-ray structure of human acid-β-glucosidase, the defective enzyme in Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

A novel approach for enzyme replacement therapy. The use of phenylalanine hydroxylase-based fusion proteins for the treatment of phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Crystal structure of the catalytic domain of human phenylalanine hydroxylase reveals the structural basis for phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

The structural basis of phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Structure of the Sulfolobus solfataricus alpha-glucosidase: implications for domain conservation and substrate recognition in GH31.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Human glucocerebrosidase: heterologous expression of active site mutants in murine null cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Functional characterization of the N-glycosylation sites of human acid sphingomyelinase by site-directed mutagenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Plant alpha-glucosidases of the glycoside hydrolase family 31. Molecular properties, substrate specificity, reaction mechanism, and comparison with family members of different origin

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.21111

1 reference

7 January 2021

Uptake and distribution of placental glucocerebrosidase in rat hepatic cells and effects of sequential deglycosylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Structure of tetrameric human phenylalanine hydroxylase and its implications for phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Clinical features of Fabry's disease in Australian patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Toward PKU enzyme replacement therapy: PEGylation with activity retention for three forms of recombinant phenylalanine hydroxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Structural basis of Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Delivery of Acid Sphingomyelinase in Normal and Niemann-Pick Disease Mice Using Intercellular Adhesion Molecule-1-Targeted Polymer Nanocarriers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Pompe disease: current state of treatment modalities and animal models.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Three-dimensional structures of sulfatases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Enzyme-replacement therapy from birth delays the development of behavior and learning problems in mucopolysaccharidosis type IIIA mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

The human alkaline phosphatases: what we know and what we don't know

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Dietary treatment of inborn errors of metabolism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Sequence of two alleles responsible for Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.21111

1 reference

7 January 2021

The metabolism of cinnamic acid by healthy and phenylketonuric adults: a kinetic study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Phosphatidylinositol anchor of HeLa cell alkaline phosphatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Enzyme-replacement therapy in mucopolysaccharidosis I.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Mutational analysis of 105 mucopolysaccharidosis type VI patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Only sphingolipid activator protein B (SAP-B or saposin B) stimulates the degradation of globotriaosylceramide by recombinant human lysosomal alpha-galactosidase in a detergent-free liposomal system

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Mutational spectrum of the iduronate 2 sulfatase gene in 25 unrelated Korean Hunter syndrome patients: identification of 13 novel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Structural basis of autoregulation of phenylalanine hydroxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Chemical chaperones--a new concept in drug research

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Trafficking of lysosomal enzymes in normal and disease states

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Substrate reduction therapy for glycosphingolipid storage disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Crystal structure of alkaline phosphatase from human placenta at 1.8 A resolution. Implication for a substrate specificity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Protein therapeutics: a summary and pharmacological classification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Glycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Carboxyl-terminal disulfide bond of acid sphingomyelinase is critical for its secretion and enzymatic function.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Image-guided, direct convective delivery of glucocerebrosidase for neuronopathic Gaucher disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Structure of porphobilinogen deaminase reveals a flexible multidomain polymerase with a single catalytic site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Crystal structure of human arylsulfatase A: the aldehyde function and the metal ion at the active site suggest a novel mechanism for sulfate ester hydrolysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Oligomerization capacity of two arylsulfatase A mutants: C300F and P425T.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Biochemical and pharmacological characterization of different recombinant acid alpha-glucosidase preparations evaluated for the treatment of Pompe disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Enzyme replacement therapy for murine hypophosphatasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

IDS transfer from overexpressing cells to IDS-deficient cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Infusion of recombinant human acid sphingomyelinase into niemann-pick disease mice leads to visceral, but not neurological, correction of the pathophysiology

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Discovery of Two Cyanobacterial Phenylalanine Ammonia Lyases: Kinetic and Structural Characterization † , ‡

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Hypophosphatasia: the mutations in the tissue-nonspecific alkaline phosphatase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Structural evidence for a functional role of human tissue nonspecific alkaline phosphatase in bone mineralization

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Family 39 alpha-l-iduronidases and beta-D-xylosidases react through similar glycosyl-enzyme intermediates: identification of the human iduronidase nucleophile

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Enhancement of drug delivery to bone: characterization of human tissue-nonspecific alkaline phosphatase tagged with an acidic oligopeptide

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Alpha-galactosidase gene mutations in Fabry disease: heterogeneous expressions of mutant enzyme proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Defining the pathway for Tat-mediated delivery of beta-glucuronidase in cultured cells and MPS VII mice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Miglustat: substrate reduction therapy for lysosomal storage disorders associated with primary central nervous system involvement

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Laronidase (Aldurazyme): enzyme replacement therapy for mucopolysaccharidosis type I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.21111

1 reference

7 January 2021

Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Six novel mutations in the alpha-galactosidase A gene in families with Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Acid sphingomyelinase possesses a domain homologous to its activator proteins: saposins B and D

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Acid beta-glucosidase: intrinsic fluorescence and conformational changes induced by phospholipids and saposin C.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Activation of human acid sphingomyelinase through modification or deletion of C-terminal cysteine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Sulfatases, trapping of the sulfated enzyme intermediate by substituting the active site formylglycine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

A homology model for human alpha-l-iduronidase: insights into human disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Efficacy of enzyme replacement therapy in alpha-mannosidosis mice: a preclinical animal study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Treatment of lysosomal storage disorders : progress with enzyme replacement therapy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

alpha-L-iduronidase forms semi-crystalline spherulites with amyloid-like properties

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Safety, pharmacokinetics and pharmocodynamics of recombinant human porphobilinogen deaminase in healthy subjects and asymptomatic carriers of the acute intermittent porphyria gene who have increased porphyrin precursor excretion.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Preclinical evaluation of multiple species of PEGylated recombinant phenylalanine ammonia lyase for the treatment of phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Genotype and phenotype in Fabry disease: analysis of the Fabry Outcome Survey

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Enzyme replacement therapy in Fabry disease: a randomized controlled trial

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Zn2+-stimulated sphingomyelinase is secreted by many cell types and is a product of the acid sphingomyelinase gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

SWISS-MODEL: An automated protein homology-modeling server

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

A model of the acid sphingomyelinase phosphoesterase domain based on its remote structural homolog purple acid phosphatase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Fabry disease: 45 novel mutations in the alpha-galactosidase A gene causing the classical phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Reverse engineering the (beta/alpha )8 barrel fold

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Human intestinal maltase-glucoamylase: crystal structure of the N-terminal catalytic subunit and basis of inhibition and substrate specificity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Glycoengineering: the effect of glycosylation on the properties of therapeutic proteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Effects of glycosylation on the stability of protein pharmaceuticals

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

High incidence of later-onset fabry disease revealed by newborn screening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Structural characterization of mutant alpha-galactosidases causing Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Structural study on mutant alpha-L-iduronidases: insight into mucopolysaccharidosis type I

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Effect of Hunter disease (mucopolysaccharidosis type II) mutations on molecular phenotypes of iduronate-2-sulfatase: enzymatic activity, protein processing and structural analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase"

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Can mucopolysaccharidosis type I disease severity be predicted based on a patient's genotype? A comprehensive review of the literature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Enzyme replacement therapy in a murine model of Morquio A syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Minimalist active-site redesign: teaching old enzymes new tricks

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.21111

1 reference

7 January 2021

Effect of mannose chain length on targeting of glucocerebrosidase for enzyme replacement therapy of Gaucher disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Crystal structure of an enzyme-substrate complex provides insight into the interaction between human arylsulfatase A and its substrates during catalysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Amino acid residues forming the active site of arylsulfatase A. Role in catalytic activity and substrate binding

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Structure-based chemical modification strategy for enzyme replacement treatment of phenylketonuria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Structural and Biochemical Characterization of the Therapeutic Anabaena variabilis Phenylalanine Ammonia Lyase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Imiglucerase and its use for the treatment of Gaucher's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Lysosomal degradation on vesicular membrane surfaces. Enhanced glucosylceramide degradation by lysosomal anionic lipids and activators.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Molecular basis of acute intermittent porphyria

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Limitations of enzyme replacement therapy: current and future

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Enzyme replacement therapy with idursulfase in patients with mucopolysaccharidosis type II.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Crystal structure of beta-D-xylosidase from Thermoanaerobacterium saccharolyticum, a family 39 glycoside hydrolase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Fabry disease: characterization of alpha-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Gaucher disease: Perspectives on a prototype lysosomal disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Carbohydrate structures of recombinant human alpha-L-iduronidase secreted by Chinese hamster ovary cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21111

7 January 2021

Identifiers

DOI

10.1002/HUMU.21111

1 reference

21 August 2017

1 reference