(Q51737715)

11 April 2018

title

Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease. (English)

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11 April 2018

Masakazu Sekijima

3

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author name string

Kanako Sugawara

1

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11 April 2018

Seiji Saito

2

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11 April 2018

Kazuki Ohno

4

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11 April 2018

Youichi Tajima

5

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11 April 2018

Marian A Kroos

6

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11 April 2018

Arnold J J Reuser

7

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11 April 2018

Hitoshi Sakuraba

8

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11 April 2018

publication date

3 April 2009

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11 April 2018

Journal of Human Genetics

published in

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11 April 2018

volume

54

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11 April 2018

issue

6

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11 April 2018

page(s)

324-330

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11 April 2018

https://scigraph.springernature.com/pub.10.1038/jhg.2009.32

exact match

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cites work

Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.32

Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

21 January 2018

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Twenty-two novel mutations in the lysosomal ?-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.32

Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.32

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

Calculation of the reaction field due to off-center point multipoles

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

Analysis and Application of Potential Energy Smoothing and Search Methods for Global Optimization

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

Satisfying hydrogen bonding potential in proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.32

Binding parameters and thermodynamics of the interaction of imino sugars with a recombinant human acid alpha-glucosidase (alglucosidase alfa): insight into the complex formation mechanism

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

Structures and mechanisms of glycosyl hydrolases

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease).

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

Late onset Pompe disease: Clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.32

The conservative substitution Asp-645-->Glu in lysosomal alpha-glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.32

A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.32

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

21 January 2018

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

7 January 2021

Algorithms for calculating excluded volume and its derivatives as a function of molecular conformation and their use in energy minimization

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

7 January 2021

Accurate modeling of the intramolecular electrostatic energy of proteins

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

7 January 2021

Polarizable Atomic Multipole Water Model for Molecular Mechanics Simulation

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FJHG.2009.32

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.32

7 January 2021

Structural consequences of amino acid substitutions causing Tay-Sachs disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.32

7 January 2021

Structural characterization of mutant alpha-galactosidases causing Fabry disease

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.32

7 January 2021

Glycogen storage disease type II in Spanish patients: high frequency of c.1076-1G>C mutation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2009.32

7 January 2021

Identifiers

DOI

10.1038/JHG.2009.32

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11 April 2018

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11 April 2018