Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene (Q28587632)

31 January 2017

title

Modulation of disease severity in mice with targeted disruption of the acid alpha-glucosidase gene (English)

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31 January 2017

main subject

Glucosidase, alpha, acid

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GOA release 2020-03-11

author name string

N. Raben

1

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31 January 2017

K. Nagaraju

2

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31 January 2017

E. Lee

3

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31 January 2017

P. Plotz

4

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31 January 2017

publication date

1 June 2000

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31 January 2017

published in

Neuromuscular Disorders

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31 January 2017

volume

10

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31 January 2017

issue

4-5

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31 January 2017

page(s)

283–291

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Gene delivery to skeletal muscle results in sustained expression and systemic delivery of a therapeutic protein

31 January 2017

cites work

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7 January 2021

Retroviral transfer of acid alpha-glucosidase cDNA to enzyme-deficient myoblasts results in phenotypic spread of the genotypic correction by both secretion and fusion

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Complete correction of acid alpha-glucosidase deficiency in Pompe disease fibroblasts in vitro, and lysosomally targeted expression in neonatal rat cardiac and skeletal muscle

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Adenovirus-mediated transfer of human acid maltase gene reduces glycogen accumulation in skeletal muscle of Japanese quail with acid maltase deficiency

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Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cells

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High-level production of recombinant human lysosomal acid alpha-glucosidase in Chinese hamster ovary cells which targets to heart muscle and corrects glycogen accumulation in fibroblasts from patients with Pompe disease

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Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail

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Targeted disruption of the acid alpha-glucosidase gene in mice causes an illness with critical features of both infantile and adult human glycogen storage disease type II

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Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease

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Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease

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Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene

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Targeted disruption of the arylsulfatase B gene results in mice resembling the phenotype of mucopolysaccharidosis VI

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Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase

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Glycogenosis type II (acid maltase deficiency)

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7 January 2021

Glycogen Storage Disease Type II: Identification of Four Novel Missense Mutations (D645N, G648S, R672W, R672Q) and Two Insertions/Deletions in the Acid α-Glucosidase Locus of Patients of Differing Phenotype

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7 January 2021

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.

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The African origin of the common mutation in African American patients with glycogen-storage disease type II.

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Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation

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Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients

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7 January 2021

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Identifiers

DOI

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