Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease (Q40184719)

18 September 2017

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease (English)

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18 September 2017

Andrea Ballabio

14

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author name string

Giancarlo Parenti

1

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18 September 2017

Alfredo Zuppaldi

2

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18 September 2017

M Gabriela Pittis

3

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18 September 2017

M Rosaria Tuzzi

4

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18 September 2017

Ida Annunziata

5

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18 September 2017

Germana Meroni

6

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18 September 2017

Caterina Porto

7

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18 September 2017

Francesca Donaudy

8

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18 September 2017

Barbara Rossi

9

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18 September 2017

Massimiliano Rossi

10

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18 September 2017

Mirella Filocamo

11

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18 September 2017

Alice Donati

12

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18 September 2017

Bruno Bembi

13

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18 September 2017

Generoso Andria

15

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18 September 2017

9 January 2007

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18 September 2017

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18 September 2017

15

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18 September 2017

3

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18 September 2017

508-514

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

18 September 2017

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Pompe disease in infants and children

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https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Identification of two subtypes of infantile acid maltase deficiency

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https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Recombinant human alpha-glucosidase from rabbit milk in Pompe patients.

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https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up

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https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Enzyme replacement therapy in the mouse model of Pompe disease

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https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

In vitro inhibition and intracellular enhancement of lysosomal α-galactosidase A activity in Fabry lymphoblasts by 1-deoxygalactonojirimycin and its derivatives

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Pharmacological enhancement of beta-hexosaminidase activity in fibroblasts from adult Tay-Sachs and Sandhoff Patients.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Aminosugar derivatives as potential anti-human immunodeficiency virus agents

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Enzyme replacement and enhancement therapies: lessons from lysosomal disorders

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https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

A cure for traffic jams: small molecule chaperones in the endoplasmic reticulum

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Inhibition of glycogen breakdown by imino sugars in vitro and in vivo.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Stabilising normal and mis-sense variant alpha-glucosidase.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.MT.6300074

7 January 2021

Identifiers

DOI

10.1038/SJ.MT.6300074

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18 September 2017

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