Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds (Q34464236)

2 August 2017

title

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. (English)

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2 August 2017

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Gustavo Tiscornia

1

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Leslie Matalonga

Leslie Matalonga

3

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Federico González

Federico González

8

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Laura Gort Mas

Laura Gort

7

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Antonia Ribes

Antonia Ribes

11

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Carmen Ortiz Mellet

Carmen Ortiz Mellet

José Manuel García Fernández

9

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José Manuel García Fernández

Juan Carlos Izpisúa Belmonte

10

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13

Juan Carlos Izpisua Belmonte

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2 August 2017

12

Anna Veiga

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2 August 2017

Erika Lorenzo Vivas

2

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2 August 2017

Ina Berniakovich

4

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2 August 2017

Montserrat Barragán Monasterio

5

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2 August 2017

Cristina Eguizábal

6

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2 August 2017

publication date

31 October 2012

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2 August 2017

published in

Human Molecular Genetics

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2 August 2017

volume

22

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2 August 2017

issue

4

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2 August 2017

page(s)

633-645

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describes a project that uses

2 August 2017

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Gaucher disease: pathological mechanisms and modern management

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Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

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Phenotype, diagnosis, and treatment of Gaucher's disease

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Neuropathology provides clues to the pathophysiology of Gaucher disease

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The role of neurogenetics in Gaucher disease

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Enzyme replacement in Gaucher disease

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Substrate reduction therapy of glycosphingolipid storage disorders.

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Pharmacological chaperone therapy for Gaucher disease: a patent review.

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Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

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Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders

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Targeted delivery of proteins across the blood-brain barrier

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Effective cell and gene therapy in a murine model of Gaucher disease

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Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage

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Gaucher's disease: the best laid schemes of mice and men.

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Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease

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Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients

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Induced pluripotent stem cells from a spinal muscular atrophy patient

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

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Generation of pluripotent stem cells from patients with type 1 diabetes

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

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Disease-specific induced pluripotent stem cells

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Diseases in a dish: modeling human genetic disorders using induced pluripotent cells

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

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

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1 reference

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Generation of HIV-1 resistant and functional macrophages from hematopoietic stem cell-derived induced pluripotent stem cells

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Generation of dendritic cells and macrophages from human induced pluripotent stem cells aiming at cell therapy

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Homogeneous monocytes and macrophages from human embryonic stem cells following coculture-free differentiation in M-CSF and IL-3.

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Hematopoietic differentiation and production of mature myeloid cells from human pluripotent stem cells

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Generation of induced pluripotent stem cells from human cord blood using OCT4 and SOX2.

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Efficient derivation of functional dopaminergic neurons from human embryonic stem cells on a large scale

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Highly efficient and large-scale generation of functional dopamine neurons from human embryonic stem cells.

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A plant-derived recombinant human glucocerebrosidase enzyme--a preclinical and phase I investigation

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Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses

21 January 2018

1 reference

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

21 January 2018

1 reference

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Enzyme therapy for Gaucher disease: the first 5 years

21 January 2018

1 reference

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Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

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Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.

21 January 2018

1 reference

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Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

21 January 2018

1 reference

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Improvement of neurological symptoms by enzyme replacement therapy for Gaucher disease type IIIb.

21 January 2018

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Pharmacological chaperones: a new twist on receptor folding.

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Pharmacologic chaperoning as a strategy to treat Gaucher disease

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

21 January 2018

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

21 January 2018

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Chaperone activity of bicyclic nojirimycin analogues for Gaucher mutations in comparison with N-(n-nonyl)deoxynojirimycin

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Generation of mouse-induced pluripotent stem cells by transient expression of a single nonviral polycistronic vector

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

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Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells.

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Differential methylation of tissue- and cancer-specific CpG island shores distinguishes human induced pluripotent stem cells, embryonic stem cells and fibroblasts

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Persistent donor cell gene expression among human induced pluripotent stem cells contributes to differences with human embryonic stem cells

21 January 2018

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Epigenetic memory in induced pluripotent stem cells

21 January 2018

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Transcriptional signature and memory retention of human-induced pluripotent stem cells

21 January 2018

1 reference

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Cell type of origin influences the molecular and functional properties of mouse induced pluripotent stem cells

21 January 2018

1 reference

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Murine models of acute neuronopathic Gaucher disease

21 January 2018

1 reference

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

21 January 2018

1 reference

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Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency

21 January 2018

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Brief report: efficient generation of hematopoietic precursors and progenitors from human pluripotent stem cell lines

21 January 2018

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Functional cardiomyocytes derived from human induced pluripotent stem cells

21 January 2018

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Lysosomal storage diseases: natural history and ethical and economic aspects

21 January 2018

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A Fluorescent sp2-iminosugar with pharmacological chaperone activity for gaucher disease: synthesis and intracellular distribution studies

21 January 2018

1 reference

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Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS471

Bicyclic (galacto)nojirimycin analogues as glycosidase inhibitors: effect of structural modifications in their pharmacological chaperone potential towards β-glucocerebrosidase

21 January 2018

1 reference

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A flow cytometric assay for lysosomal glucocerebrosidase

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1093/HMG/DDS471

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2 August 2017

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