(Q28540925)

English

The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease

scientific article (publication date: 2014)

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scholarly article

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The pharmacological chaperone AT2220 increases the specific activity and lysosomal delivery of mutant acid alpha-glucosidase, and promotes glycogen reduction in a transgenic mouse model of Pompe disease (English)

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molecular chaperones

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1 reference

based on heuristic

inferred from title

author name string

Richie Khanna

1

author given names

Richie

author last names

Khanna

1 reference

PubMed publication ID

30 October 2023

Allan C Powe

2

author given names

Allan C Jr

author last names

Powe

1 reference

PubMed publication ID

30 October 2023

Yi Lun

3

author given names

Yi

author last names

Lun

1 reference

PubMed publication ID

30 October 2023

Rebecca Soska

4

author given names

Rebecca

author last names

Soska

1 reference

PubMed publication ID

30 October 2023

Jessie Feng

5

author given names

Jessie

author last names

Feng

1 reference

PubMed publication ID

30 October 2023

Rohini Dhulipala

6

author given names

Rohini

author last names

Dhulipala

1 reference

PubMed publication ID

30 October 2023

Michelle Frascella

7

author given names

Michelle

author last names

Frascella

1 reference

PubMed publication ID

30 October 2023

Anadina Garcia

8

author given names

Anadina

author last names

Garcia

1 reference

PubMed publication ID

30 October 2023

Lee J Pellegrino

9

author given names

Lee J

author last names

Pellegrino

1 reference

PubMed publication ID

30 October 2023

Su Xu

10

author given names

Su

author last names

Xu

1 reference

PubMed publication ID

30 October 2023

Nastry Brignol

11

author given names

Nastry

author last names

Brignol

1 reference

PubMed publication ID

30 October 2023

Matthew J Toth

12

author given names

Matthew J

author last names

Toth

1 reference

PubMed publication ID

30 October 2023

Hung V Do

13

author given names

Hung V

author last names

Do

1 reference

PubMed publication ID

30 October 2023

David J Lockhart

14

author given names

David J

author last names

Lockhart

1 reference

PubMed publication ID

30 October 2023

Brandon A Wustman

15

author given names

Brandon A

author last names

Wustman

1 reference

PubMed publication ID

30 October 2023

Kenneth J Valenzano

16

author given names

Kenneth J

author last names

Valenzano

1 reference

PubMed publication ID

30 October 2023

language of work or name

0 references

publication date

2014

0 references

0 references

9

0 references

7

0 references

e102092

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copyright license

Creative Commons Attribution 4.0 International

18 July 2014

1 reference

April 2022 Public Data File from Crossref

copyright status

0 references

Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

19 March 2017

The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

19 March 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

19 March 2017

Genetic transformation of mouse embryos by microinjection of purified DNA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

19 March 2017

The pharmacological chaperone AT2220 increases recombinant human acid α-glucosidase uptake and glycogen reduction in a mouse model of Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

A randomized study of alglucosidase alfa in late-onset Pompe's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

Neural deficits contribute to respiratory insufficiency in Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

The pharmacological chaperone N-butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

Pompe's disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

Temporal neuropathologic and behavioral phenotype of 6neo/6neo Pompe disease mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

Autophagy and lysosomes in Pompe disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

Pompe disease diagnosis and management guideline.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

High-resolution light microscopy (HRLM) and digital analysis of Pompe disease pathology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

Pompe disease in infants and children

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

29 September 2017

Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

3 June 2018

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.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4103853

3 June 2018

Disease severity in children and adults with Pompe disease related to age and disease duration

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0102092

21 January 2018

Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0102092

21 January 2018

Reversal of cardiac dysfunction after enzyme replacement in patients with infantile-onset Pompe disease.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0102092

21 January 2018

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0102092

21 January 2018

Enzyme replacement therapy in the mouse model of Pompe disease

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0102092

21 January 2018

Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0102092

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0102092

21 January 2018

The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0102092

21 January 2018

Transgenic mouse expressing human mutant alpha-galactosidase A in an endogenous enzyme deficient background: a biochemical animal model for studying active-site specific chaperone therapy for Fabry disease

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0102092

21 January 2018

Promoter-specific lentivectors for long-term, cardiac-directed therapy of Fabry disease

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0102092

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0102092

21 January 2018

Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0102092

21 January 2018

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/25036864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa

1 reference

https://pubmed.ncbi.nlm.nih.gov/25036864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Uptake and stability of human and bovine acid α-glucosidase in cultured fibroblasts and skeletal muscle cells from glycogenosis type II patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/25036864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biosynthesis of lysosomal enzymes in fibroblasts. Phosphorylation of mannose residues

1 reference

https://pubmed.ncbi.nlm.nih.gov/25036864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Generation and characterization of transgenic mice expressing a human mutant alpha-galactosidase with an R301Q substitution causing a variant form of Fabry disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/25036864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Differential muscular glycogen clearance after enzyme replacement therapy in a mouse model of Pompe disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/25036864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Recombinant human acid alpha-glucosidase: high level production in mouse milk, biochemical characteristics, correction of enzyme deficiency in GSDII KO mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/25036864

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0102092

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2014PLoSO...9j2092K

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PubMed publication ID

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