(Q79344207)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17095274%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

title

Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17095274%20AND%20SRC:MED&resulttype=core&format=json

glycogen metabolic process

21 December 2019

main subject

glycogen storage disease

1 reference

based on heuristic

inferred from title

1 reference

Toshika Okumiya

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17095274%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Marian A Kroos

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17095274%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Laura Van Vliet

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17095274%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Hiroaki Takeuchi

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17095274%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Ans T Van der Ploeg

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17095274%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Arnold J J Reuser

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17095274%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

publication date

13 November 2006

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17095274%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

21 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17095274%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

volume

90

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17095274%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

issue

1

1 reference

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21 December 2019

page(s)

49-57

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17095274%20AND%20SRC:MED&resulttype=core&format=json

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

21 December 2019

cites work

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

7 January 2021

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

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Direct comparison of measures of endurance, mobility, and joint function during enzyme-replacement therapy of mucopolysaccharidosis VI (Maroteaux-Lamy syndrome): results after 48 weeks in a phase 2 open-label clinical study of recombinant human N-ac

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Common antigenicity for two glycosidases

7 January 2021

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Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease

7 January 2021

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Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease

7 January 2021

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

7 January 2021

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

7 January 2021

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

7 January 2021

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Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

7 January 2021

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

7 January 2021

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Miglustat (NB-DNJ) works as a chaperone for mutated acid beta-glucosidase in cells transfected with several Gaucher disease mutations

7 January 2021

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

7 January 2021

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

7 January 2021

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Isolation and characterisation of a recombinant, precursor form of lysosomal acid alpha-glucosidase

7 January 2021

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The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II.

7 January 2021

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Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype

7 January 2021

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Frequent mutations in Japanese patients with acid maltase deficiency

7 January 2021

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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.

7 January 2021

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7 January 2021

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7 January 2021

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Rapid redistribution of Golgi proteins into the ER in cells treated with brefeldin A: evidence for membrane cycling from Golgi to ER

7 January 2021

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Protein folding and misfolding

7 January 2021

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

7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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inferred from DOI database lookup

7 January 2021

based on heuristic

Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis.

1 reference

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Membrane disruption and cytotoxicity of hydrophobic N-alkylated imino sugars is independent of the inhibition of protein and lipid glycosylation

7 January 2021

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Rescue of functional delF508-CFTR channels in cystic fibrosis epithelial cells by the alpha-glucosidase inhibitor miglustat

7 January 2021

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N-butyldeoxygalactonojirimycin: a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo

7 January 2021

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Reversible infertility in male mice after oral administration of alkylated imino sugars: a nonhormonal approach to male contraception

7 January 2021

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Long-term non-hormonal male contraception in mice using N-butyldeoxynojirimycin

7 January 2021

1 reference

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10.1016/J.YMGME.2006.09.010

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17095274%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

1 reference