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

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

21 January 2018

1 reference

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

Phenotype, diagnosis, and treatment of Gaucher's disease

21 January 2018

1 reference

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

Neuropathology provides clues to the pathophysiology of Gaucher disease

21 January 2018

1 reference

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

The role of neurogenetics in Gaucher disease

21 January 2018

1 reference

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

Enzyme replacement in Gaucher disease

21 January 2018

1 reference

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

Substrate reduction therapy of glycosphingolipid storage disorders.

21 January 2018

1 reference

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

Pharmacological chaperone therapy for Gaucher disease: a patent review.

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Targeted delivery of proteins across the blood-brain barrier

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

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

Reprogramming of human somatic cells to pluripotency with defined factors

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

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

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

21 January 2018

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Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients

21 January 2018

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

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

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

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Induced pluripotent stem cells from a spinal muscular atrophy patient

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Generation of pluripotent stem cells from patients with type 1 diabetes

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Disease-specific induced pluripotent stem cells

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Enzyme therapy for Gaucher disease: the first 5 years

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

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

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

21 January 2018

1 reference

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

Pharmacological chaperones: a new twist on receptor folding.

21 January 2018

1 reference

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

Pharmacologic chaperoning as a strategy to treat Gaucher disease

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Epigenetic memory in induced pluripotent stem cells

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Murine models of acute neuronopathic Gaucher disease

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

Functional cardiomyocytes derived from human induced pluripotent stem cells

21 January 2018

1 reference

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

Lysosomal storage diseases: natural history and ethical and economic aspects

21 January 2018

1 reference

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

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

21 January 2018

1 reference

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

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

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

A flow cytometric assay for lysosomal glucocerebrosidase

21 January 2018

1 reference

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

21 January 2018

Identifiers

DOI

10.1093/HMG/DDS471

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2 August 2017

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