(Q81099313)

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5 January 2020

title

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

1 reference

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5 January 2020

author name string

Youichi Tajima

1

1 reference

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5 January 2020

Fumiko Matsuzawa

2

1 reference

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5 January 2020

Sei-ichi Aikawa

3

1 reference

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5 January 2020

Toshika Okumiya

4

1 reference

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5 January 2020

Michiru Yoshimizu

5

1 reference

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5 January 2020

Takahiro Tsukimura

6

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5 January 2020

Masahiko Ikekita

7

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5 January 2020

Seiichi Tsujino

8

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5 January 2020

Akihiko Tsuji

9

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5 January 2020

Tim Edmunds

10

1 reference

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5 January 2020

Hitoshi Sakuraba

11

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5 January 2020

publication date

6 September 2007

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Journal of Human Genetics

5 January 2020

published in

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5 January 2020

volume

52

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5 January 2020

issue

11

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5 January 2020

page(s)

898-906

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https://scigraph.springernature.com/pub.10.1007/s10038-007-0191-9

5 January 2020

exact match

0 references

cites work

Structures and mechanisms of glycosyl hydrolases

1 reference

12 December 2020

Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).

1 reference

12 December 2020

Mechanistic and structural analysis of a family 31 alpha-glycosidase and its glycosyl-enzyme intermediate.

1 reference

12 December 2020

Primary structure and processing of lysosomal alpha-glucosidase; homology with the intestinal sucrase-isomaltase complex

1 reference

12 December 2020

Sensitive enzymatic assay for erythrocyte creatine with production of methylene blue

1 reference

12 December 2020

Characterization of the human lysosomal alpha-glucosidase gene

1 reference

12 December 2020

Acid alpha-glucosidase deficiency: identification and expression of a missense mutation (S529V) in a Japanese adult phenotype

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II

1 reference

12 December 2020

Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial

1 reference

12 December 2020

Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues

1 reference

12 December 2020

Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts

1 reference

12 December 2020

Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolation of a cDNA for human acid alpha-glucosidase and detection of genetic heterogeneity for mRNA in three alpha-glucosidase-deficient patients

1 reference

12 December 2020

Isolation and Partial Characterization of the Structural Gene for Human Acid Alpha Glucosidase

1 reference

12 December 2020

Km mutant of acid alpha-glucosidase in a case of cardiomyopathy without signs of skeletal muscle involvement

1 reference

12 December 2020

The precursor of acid alpha-glucosidase is synthesized as a membrane-bound enzyme

1 reference

12 December 2020

Structural and functional changes of lysosomal acid alpha-glucosidase during intracellular transport and maturation

1 reference

12 December 2020

Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease

1 reference

12 December 2020

Frequent mutations in Japanese patients with acid maltase deficiency

1 reference

12 December 2020

10.1007/S10038-007-0191-9

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17805474%20AND%20SRC:MED&resulttype=core&format=json

5 January 2020

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