Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis (Q34380739)

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English	Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis	scientific article

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scholarly article

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Europe PubMed Central

PubMed publication ID

1 August 2017

Missense models [Gustm(E536A)Sly, Gustm(E536Q)Sly, and Gustm(L175F)Sly] of murine mucopolysaccharidosis type VII produced by targeted mutagenesis (English)

1 reference

Europe PubMed Central

PubMed publication ID

1 August 2017

author name string

Shunji Tomatsu

1

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Europe PubMed Central

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1 August 2017

Koji O Orii

2

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1 August 2017

Carole Vogler

3

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Europe PubMed Central

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1 August 2017

Jeffrey H Grubb

4

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Europe PubMed Central

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1 August 2017

Elizabeth M Snella

5

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Europe PubMed Central

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1 August 2017

Monica A Gutierrez

6

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Europe PubMed Central

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1 August 2017

Tatiana Dieter

7

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Europe PubMed Central

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1 August 2017

Kazuko Sukegawa

8

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Europe PubMed Central

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1 August 2017

Tadao Orii

9

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Europe PubMed Central

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1 August 2017

Naomi Kondo

10

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1 August 2017

William S Sly

11

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1 August 2017

language of work or name

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publication date

28 October 2002

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1 August 2017

Proceedings of the National Academy of Sciences of the United States of America

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1 August 2017

99

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Europe PubMed Central

PubMed publication ID

1 August 2017

23

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Europe PubMed Central

PubMed publication ID

1 August 2017

14982-14987

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Europe PubMed Central

PubMed publication ID

1 August 2017

Deamidation of human proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Active site residues of human beta-glucuronidase. Evidence for Glu(540) as the nucleophile and Glu(451) as the acid-base residue

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Enzyme replacement therapy improves reproductive performance in mucopolysaccharidosis type VII mice but does not prevent postnatal losses.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Identification of Glu-540 as the catalytic nucleophile of human beta-glucuronidase using electrospray mass spectrometry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones

1 reference

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6 July 2018

Molecular analysis of the beta-glucuronidase gene: novel mutations in mucopolysaccharidosis type VII and heterogeneity of the polyadenylation region

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

beta-Glucuronidase P408S, P415L mutations: evidence that both mutations combine to produce an MPS VII allele in certain Mexican patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Recent advances in gene mutagenesis by site-directed recombination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Structure of human beta-glucuronidase reveals candidate lysosomal targeting and active-site motifs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Enzyme replacement therapy for murine mucopolysaccharidosis type VII

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Mutational studies in a patient with the hydrops fetalis form of mucopolysaccharidosis type VII.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Molecular analysis of a patient with hydrops fetalis caused by beta-glucuronidase deficiency, and evidence for additional pseudogenes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

A single-base-pair deletion in the beta-glucuronidase gene accounts for the phenotype of murine mucopolysaccharidosis type VII

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Overexpression rescues the mutant phenotype of L176F mutation causing beta-glucuronidase deficiency mucopolysaccharidosis in two Mennonite siblings.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Microinjection of a rabbit beta-globin gene into zygotes and its subsequent expression in adult mice and their offspring

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Amino acid difference formula to help explain protein evolution

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Beta glucuronidase deficiency: report of clinical, radiologic, and biochemical features of a new mucopolysaccharidosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Murine mucopolysaccharidosis type VII. Characterization of a mouse with beta-glucuronidase deficiency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Diagnostic test for mucopolysaccharidosis. I. Direct method for quantifying excessive urinary glycosaminoglycan excretion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Molecular basis of mucopolysaccharidosis type VII: replacement of Ala619 in beta-glucuronidase with Val.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Mucopolysaccharidosis type VII: characterization of mutations and molecular heterogeneity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Review of the folin phenol protein quantitation method of lowry, rosebrough, farr and randall

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

6 July 2018

Simultaneous preparation and quantitation of proteoglycans by precipitation with alcian blue

1 reference

https://api.crossref.org/works/10.1073/PNAS.232570999

21 January 2018

Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy

1 reference

https://api.crossref.org/works/10.1073/PNAS.232570999

21 January 2018

A mutation (IVS8 0.6kbdelTC) creating a new donor splice site activates a cryptic exon in an Alu-element in intron 8 of the human beta-glucuronidase gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=137531

27 October 2018

Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote

1 reference

https://api.crossref.org/works/10.1073/PNAS.232570999

21 January 2018

Beta-glucuronidase P408S, P415L allele in a Mexican population: population screening in Guadalajara and prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1073/PNAS.232570999

21 January 2018

Bone marrow transplantation has a significant effect on enzyme levels and storage of glycosaminoglycans in tissues and in isolated hepatocytes of mucopolysaccharidosis type VII mice

1 reference

https://api.crossref.org/works/10.1073/PNAS.232570999

21 January 2018

In vivo site-directed mutagenesis of the factor IX gene by chimeric RNA/DNA oligonucleotides

1 reference

https://api.crossref.org/works/10.1073/PNAS.232570999

21 January 2018

Beta-glucuronidase deficiency mucopolysaccharidosis: methods for enzymatic diagnosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/12403825

12 December 2020

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10.1073/PNAS.232570999

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Europe PubMed Central

PubMed publication ID

1 August 2017

2002PNAS...9914982T

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Europe PubMed Central

PubMed publication ID

1 August 2017

PubMed publication ID

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Europe PubMed Central

PubMed publication ID

1 August 2017

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