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Pluripotent Stem Cells in Disease Modeling and Drug Discovery for Myotonic Dystrophy Type 1

Cells (Basel, Switzerland), 2023-02, Vol.12 (4), p.571

2023

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Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

Nature communications, 2022-07, Vol.13 (1), p.3841-3841, Article 3841

2022

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Human-Induced Pluripotent Stem Cell‒Derived Keratinocytes, a Useful Model to Identify and Explore the Pathological Phenotype of Epidermolysis Bullosa Simplex

Journal of investigative dermatology, 2022-10, Vol.142 (10), p.2695-2705.e11

2022

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Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome

American journal of human genetics, 2021-11, Vol.108 (11), p.2171-2185

2021

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Mutant Human Embryonic Stem Cells Reveal Neurite and Synapse Formation Defects in Type 1 Myotonic Dystrophy

Cell stem cell, 2011-04, Vol.8 (4), p.434-444

2011

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In vitro modeling of hyperpigmentation associated to neurofibromatosis type 1 using melanocytes derived from human embryonic stem cells

Proceedings of the National Academy of Sciences - PNAS, 2015-07, Vol.112 (29), p.9034-9039

2015

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Optogenetically controlled human functional motor endplate for testing botulinum neurotoxins

Stem cell research & therapy, 2021-12, Vol.12 (1), p.599-599, Article 599

2021

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Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

Acta neuropathologica, 2022-10, Vol.144 (4), p.707-731

2022

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Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ

Stem cell research, 2020-12, Vol.49, p.102106-102106, Article 102106

2020

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Moxifloxacin rescues SMA phenotypes in patient-derived cells and animal model

Cellular and molecular life sciences : CMLS, 2022-08, Vol.79 (8), p.441-441, Article 441

2022

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Human pluripotent stem cells: opening key for pathological modeling

M.S. Médecine sciences, 2011-04, Vol.27 (4), p.443

2011

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Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4

American journal of human genetics, 2023-03, Vol.110 (3), p.442-459

2023

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Activating ATF6 in spinal muscular atrophy promotes SMN expression and motor neuron survival through the IRE1α‐XBP1 pathway

Neuropathology and applied neurobiology, 2022-08, Vol.48 (5), p.e12816-n/a

2022

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In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin

Molecular therapy. Nucleic acids, 2015-11, Vol.4 (11), p.e262-e262, Article e262

2015

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MBNL‐dependent impaired development within the neuromuscular system in myotonic dystrophy type 1

Neuropathology and applied neurobiology, 2023-02, Vol.49 (1), p.e12876-n/a

2023

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High throughput screening for inhibitors of REST in neural derivatives of human embryonic stem cells reveals a chemical compound that promotes expression of neuronal genes

Stem cells (Dayton, Ohio), 2013-09, Vol.31 (9), p.1816-1828

2013

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SISTEMA: A large and standardized collection of transcriptome data sets for human pluripotent stem cell research

iScience, 2021-07, Vol.24 (7), p.102767, Article 102767

2021

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mTOR-dependent proliferation defect in human ES-derived neural stem cells affected by myotonic dystrophy type 1

Journal of cell science, 2013-04, Vol.126 (Pt 8), p.1763-1772

2013

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Induced Pluripotent Stem Cells Reveal Functional Differences Between Drugs Currently Investigated in Patients With Hutchinson‐Gilford Progeria Syndrome

Stem cells translational medicine, 2014-04, Vol.3 (4), p.510-519

2014

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Parkin Is a Component of an SCF-like Ubiquitin Ligase Complex and Protects Postmitotic Neurons from Kainate Excitotoxicity

Neuron (Cambridge, Mass.), 2003-03, Vol.37 (5), p.735-749

2003

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Author Correction: Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

Nature communications, 2022-07, Vol.13 (1), p.4091-4091, Article 4091

2022

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Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy

JCI insight, 2016-07, Vol.1 (11), p.e87908-e87908

2016

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Expression of miRNAs from the Imprinted DLK1/DIO3 Locus Signals the Osteogenic Potential of Human Pluripotent Stem Cells

Cells (Basel, Switzerland), 2019-11, Vol.8 (12), p.1523

2019

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Pluripotent Stem Cell-Based Drug Screening Reveals Cardiac Glycosides as Modulators of Myotonic Dystrophy Type 1

iScience, 2019-01, Vol.11, p.258-271

2019

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Pluripotent Stem Cells in Disease Modeling and Drug Discovery for Myotonic Dystrophy Type 1

Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

Human-Induced Pluripotent Stem Cell‒Derived Keratinocytes, a Useful Model to Identify and Explore the Pathological Phenotype of Epidermolysis Bullosa Simplex

Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome

Mutant Human Embryonic Stem Cells Reveal Neurite and Synapse Formation Defects in Type 1 Myotonic Dystrophy

In vitro modeling of hyperpigmentation associated to neurofibromatosis type 1 using melanocytes derived from human embryonic stem cells

Optogenetically controlled human functional motor endplate for testing botulinum neurotoxins

Severe congenital myasthenic syndromes caused by agrin mutations affecting secretion by motoneurons

Generation of a human induced pluripotent stem cell line (iPSC) from peripheral blood mononuclear cells of a patient with a myasthenic syndrome due to mutation in COLQ

Moxifloxacin rescues SMA phenotypes in patient-derived cells and animal model

Human pluripotent stem cells: opening key for pathological modeling

Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4

Activating ATF6 in spinal muscular atrophy promotes SMN expression and motor neuron survival through the IRE1α‐XBP1 pathway

In Vitro and In Vivo Modulation of Alternative Splicing by the Biguanide Metformin

MBNL‐dependent impaired development within the neuromuscular system in myotonic dystrophy type 1

High throughput screening for inhibitors of REST in neural derivatives of human embryonic stem cells reveals a chemical compound that promotes expression of neuronal genes

SISTEMA: A large and standardized collection of transcriptome data sets for human pluripotent stem cell research

mTOR-dependent proliferation defect in human ES-derived neural stem cells affected by myotonic dystrophy type 1

Translation of Expanded CGG Repeats into FMRpolyG Is Pathogenic and May Contribute to Fragile X Tremor Ataxia Syndrome

Induced Pluripotent Stem Cells Reveal Functional Differences Between Drugs Currently Investigated in Patients With Hutchinson‐Gilford Progeria Syndrome

Parkin Is a Component of an SCF-like Ubiquitin Ligase Complex and Protects Postmitotic Neurons from Kainate Excitotoxicity

Author Correction: Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

Systemic restoration of UBA1 ameliorates disease in spinal muscular atrophy

Expression of miRNAs from the Imprinted DLK1/DIO3 Locus Signals the Osteogenic Potential of Human Pluripotent Stem Cells

Pluripotent Stem Cell-Based Drug Screening Reveals Cardiac Glycosides as Modulators of Myotonic Dystrophy Type 1

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