Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification (Q42817633)

7 November 2017

title

Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification (English)

1 reference

Human Induced Pluripotent Stem Cells

7 November 2017

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based on heuristic

inferred from title

modelling biological systems

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21926084

12 December 2024

Chung-Liang Chien

7

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Hsiang-Po Huang

1

object named as

Hsiang-Po Huang

1 reference

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12 December 2024

11

Hong-Nerng Ho

1 reference

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12 December 2024

13

Hung-Chih Kuo

1 reference

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12 December 2024

author name string

H.-P. Huang

1

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P.-H. Chen

2

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W.-L. Hwu

3

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C.-Y. Chuang

4

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Y.-H. Chien

5

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L.-T. Li

8

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S.-C. Chiang

9

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H.-F. Chen

10

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H.-N. Ho

11

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C.-H. Chen

12

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H.-C. Kuo

13

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Pin-Hsun Chen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21926084

12 December 2024

Wuh-Liang Hwu

3

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12 December 2024

Ching-Yu Chuang

4

1 reference

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12 December 2024

Yin-Hsiu Chien

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21926084

12 December 2024

Lee Stone

6

1 reference

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12 December 2024

Li-Tzu Li

8

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12 December 2024

Shu-Chuan Chiang

9

1 reference

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12 December 2024

Hsin-Fu Chen

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21926084

12 December 2024

Chung-Hsuan Chen

12

1 reference

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12 December 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21926084

12 December 2024

publication date

June 2012

1 reference

https://www.scopus.com/record/display.uri?eid=2-s2.0-84861126418&doi=10.1093/hmg/dds085&origin=inward&txGid=6b7b1f9e6213d10e78c433a0eda715bf

15 September 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:21926084

12 December 2024

published in

Human Molecular Genetics

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describes a project that uses

7 November 2017

volume

21

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issue

11

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page(s)

2618-2618

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alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).

1 reference

Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts

21 January 2018

1 reference

Adult myopathy from glycogen storage disease due to acid maltase deficiency

21 January 2018

1 reference

Towards a molecular therapy for glycogen storage disease type II (Pompe disease).

21 January 2018

1 reference

The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature

21 January 2018

1 reference

Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease

21 January 2018

1 reference

Pompe disease in infants: improving the prognosis by newborn screening and early treatment.

21 January 2018

1 reference

Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease

21 January 2018

1 reference

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

21 January 2018

1 reference

Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study

21 January 2018

1 reference

Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease

21 January 2018

1 reference

Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors

21 January 2018

1 reference

In vitro reprogramming of fibroblasts into a pluripotent ES-cell-like state

21 January 2018

1 reference

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

21 January 2018

1 reference

Reprogramming of human somatic cells to pluripotency with defined factors

21 January 2018

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Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons

21 January 2018

1 reference

Disease-specific induced pluripotent stem cells

21 January 2018

1 reference

Induced pluripotent stem cells from a spinal muscular atrophy patient

21 January 2018

1 reference

Parkinson's disease patient-derived induced pluripotent stem cells free of viral reprogramming factors

21 January 2018

1 reference

Generation of pluripotent stem cells from patients with type 1 diabetes

21 January 2018

1 reference

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs.

21 January 2018

1 reference

Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients

21 January 2018

1 reference

Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells

21 January 2018

1 reference

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

21 January 2018

1 reference

Patient-specific induced pluripotent stem-cell models for long-QT syndrome

21 January 2018

1 reference

Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome)

21 January 2018

1 reference

Factors from human embryonic stem cell-derived fibroblast-like cells promote topology-dependent hepatic differentiation in primate embryonic and induced pluripotent stem cells

21 January 2018

1 reference

Pompe disease: current state of treatment modalities and animal models.

21 January 2018

1 reference

Technical challenges in using human induced pluripotent stem cells to model disease

21 January 2018

1 reference

Infantile Pompe's disease, lipid storage, and partial carnitine deficiency.

21 January 2018

1 reference

Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

21 January 2018

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The N-acylethanolamine-hydrolyzing acid amidase (NAAA).

21 January 2018

1 reference

A novel dynamin-associating molecule, formin-binding protein 17, induces tubular membrane invaginations and participates in endocytosis

21 January 2018

1 reference

DRAM, a p53-induced modulator of autophagy, is critical for apoptosis

21 January 2018

1 reference

CYB5R3: a key player in aerobic metabolism and aging?

21 January 2018

1 reference

Cytokine signal transduction through a homo- or heterodimer of gp130.

21 January 2018

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Effect of exercise, training, and glycogen availability on IL-6 receptor expression in human skeletal muscle

21 January 2018

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Survival pathways in hypertrophy and heart failure: the gp130-STAT3 axis

21 January 2018

1 reference

Generation of isogenic pluripotent stem cells

21 January 2018

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Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program.

21 January 2018

1 reference

Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts

21 January 2018

1 reference

Inhibition of autophagy induction delays neuronal cell loss caused by dysfunctional ESCRT-III in frontotemporal dementia

21 January 2018

1 reference

Mitochondrial overload and incomplete fatty acid oxidation contribute to skeletal muscle insulin resistance

21 January 2018

1 reference

Pathology of skeletal muscle cells in adult-onset glycogenosis type II (Pompe disease): ultrastructural study

21 January 2018

8

1 reference

Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial

12 December 2024

9

1 reference

National Center for Biotechnology Information

12 December 2024

Identifiers

0 references

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21926084

12 December 2024

1 reference