Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease (Q36398099)

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15 February 2020

title

Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease (English)

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15 February 2020

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15 February 2020

Leelamma M Panicker

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15 February 2020

Diana Miller

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15 February 2020

Tea Soon Park

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15 February 2020

Brijesh Patel

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15 February 2020

Judi L Azevedo

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15 February 2020

Ola Awad

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15 February 2020

M Athar Masood

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15 February 2020

Timothy D Veenstra

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15 February 2020

Ehud Goldin

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15 February 2020

Barbara K Stubblefield

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15 February 2020

Nahid Tayebi

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15 February 2020

Swamy K Polumuri

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Stefanie N Vogel

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Ellen Sidransky

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15 February 2020

Elias T Zambidis

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15 February 2020

language of work or name

English

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publication date

15 October 2012

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Proceedings of the National Academy of Sciences of the United States of America

15 February 2020

published in

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volume

109

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issue

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page(s)

18054-18059

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Probing sporadic and familial Alzheimer's disease using induced pluripotent stem cells

15 February 2020

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Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease

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Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies

30 September 2017

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Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients

30 September 2017

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The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase

30 September 2017

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Isofagomine induced stabilization of glucocerebrosidase

30 September 2017

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30 September 2017

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Disease-specific induced pluripotent stem cells

30 September 2017

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

30 September 2017

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Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

30 September 2017

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Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase

30 September 2017

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30 September 2017

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A block of autophagy in lysosomal storage disorders

30 September 2017

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Pharmacologic chaperoning as a strategy to treat Gaucher disease

30 September 2017

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Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease

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

30 September 2017

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30 September 2017

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30 September 2017

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21 September 2018

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21 September 2018

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21 September 2018

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21 September 2018

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12 December 2020

A histochemical and electron microscopic study of Gaucher cells

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12 December 2020

Role of phosphatidylinositol-3 kinase in transcriptional regulation of TLR-induced IL-12 and IL-10 by Fc gamma receptor ligation in murine macrophages

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12 December 2020

Gaucher disease with foamy transformed macrophages and erythrophagocytic activity

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12 December 2020

Identifiers

DOI

10.1073/PNAS.1207889109

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15 February 2020

0 references

1 reference

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15 February 2020

PubMed publication ID

23071332

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