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The mutation m.13513G>A impairs cardiac function, favoring a neuroectoderm commitment, in a mutant‐load dependent way

Journal of cellular physiology, 2019-11, Vol.234 (11), p.19511-19522

2019

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Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

International journal of molecular sciences, 2022-11, Vol.23 (22), p.13964

2022

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Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons

International journal of molecular sciences, 2020-04, Vol.21 (9), p.3191

2020

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Generating Rho-0 Cells Using Mesenchymal Stem Cell Lines

PloS one, 2016-10, Vol.11 (10), p.e0164199-e0164199

2016

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Animal mitochondrial biogenesis and function: a regulatory cross-talk between two genomes

Gene, 2001-01, Vol.263 (1-2), p.1-16

2001

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hCOA3 Stabilizes Cytochrome c Oxidase 1 (COX1) and Promotes Cytochrome c Oxidase Assembly in Human Mitochondria

The Journal of biological chemistry, 2013-03, Vol.288 (12), p.8321-8331

2013

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Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity

PloS one, 2016-01, Vol.11 (1), p.e0146816-e0146816

2016

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Generation of a human iPSC line, IISHDOi002-A, with a 46, XY/47, XYY mosaicism and belonging to an African mitochondrial haplogroup

Stem cell research, 2018-04, Vol.28, p.131-135

2018

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Genetic basis of end-stage hypertrophic cardiomyopathy

European journal of heart failure, 2011-11, Vol.13 (11), p.1193-1201

2011

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Derivation of an aged mouse induced pluripotent stem cell line, IISHDOi005-A

Stem cell research, 2019-04, Vol.36, p.101418-101418, Article 101418

2019

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Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg

Stem cell research, 2017-10, Vol.24 (C), p.81-84

2017

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Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene

Stem cell research, 2018-08, Vol.31, p.152-156

2018

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Drosophila Mitochondrial Transcription Factor B2 Regulates Mitochondrial DNA Copy Number and Transcription in Schneider Cells

The Journal of biological chemistry, 2004-06, Vol.279 (26), p.26900-26905

2004

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Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects

PloS one, 2012-08, Vol.7 (8), p.e43954-e43954

2012

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Coiled Coil Domain-containing Protein 56 (CCDC56) Is a Novel Mitochondrial Protein Essential for Cytochrome c Oxidase Function

The Journal of biological chemistry, 2012-07, Vol.287 (29), p.24174-24185

2012

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Drosophila Mitochondrial Transcription Factor B1 Modulates Mitochondrial Translation but Not Transcription or DNA Copy Number in Schneider Cells

The Journal of biological chemistry, 2005-04, Vol.280 (17), p.16815-16820

2005

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Generation of a human iPSC line from a patient with an optic atrophy ‘plus’ phenotype due to a mutation in the OPA1 gene

Stem cell research, 2016-05, Vol.16 (3), p.673-676

2016

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Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease

Stem cell research, 2017-08, Vol.23 (C), p.188-192

2017

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Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene

Stem cell research, 2016-05, Vol.16 (3), p.766-769

2016

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Cardiac Dysfunction in Mitochondrial Disease: Clinical and Molecular Features

Circulation Journal, 2013, Vol.77(11), pp.2799-2806

2013

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Mitochondrial Transcription Factor B2 Is Essential for Metabolic Function in Drosophila melanogaster Development

The Journal of biological chemistry, 2008-05, Vol.283 (18), p.12333-12342

2008

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Over-expression of the catalytic core of mitochondrial DNA (mtDNA) polymerase in the nervous system of Drosophila melanogaster reduces median life span by inducing mtDNA depletion

Journal of neurochemistry, 2008-04, Vol.105 (1), p.165-176

2008

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Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies

Mitochondrion, 2012-03, Vol.12 (2), p.357-362

2012

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The pathogenicity scoring system for mitochondrial tRNA mutations revisited

Molecular genetics & genomic medicine, 2014-03, Vol.2 (2), p.107-114

2014

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A Drosophila Model of Mitochondrial DNA Replication: Proteins, Genes and Regulation

IUBMB life, 2005-08, Vol.57 (8), p.555-561

2005

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The mutation m.13513G>A impairs cardiac function, favoring a neuroectoderm commitment, in a mutant‐load dependent way

Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology

Mitochondrial Dysfunction and Calcium Dysregulation in Leigh Syndrome Induced Pluripotent Stem Cell Derived Neurons

Generating Rho-0 Cells Using Mesenchymal Stem Cell Lines

Animal mitochondrial biogenesis and function: a regulatory cross-talk between two genomes

hCOA3 Stabilizes Cytochrome c Oxidase 1 (COX1) and Promotes Cytochrome c Oxidase Assembly in Human Mitochondria

Functional Characterization of Three Concomitant MtDNA LHON Mutations Shows No Synergistic Effect on Mitochondrial Activity

Generation of a human iPSC line, IISHDOi002-A, with a 46, XY/47, XYY mosaicism and belonging to an African mitochondrial haplogroup

Genetic basis of end-stage hypertrophic cardiomyopathy

Derivation of an aged mouse induced pluripotent stem cell line, IISHDOi005-A

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg

Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene

Drosophila Mitochondrial Transcription Factor B2 Regulates Mitochondrial DNA Copy Number and Transcription in Schneider Cells

Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects

Coiled Coil Domain-containing Protein 56 (CCDC56) Is a Novel Mitochondrial Protein Essential for Cytochrome c Oxidase Function

Drosophila Mitochondrial Transcription Factor B1 Modulates Mitochondrial Translation but Not Transcription or DNA Copy Number in Schneider Cells

Generation of a human iPSC line from a patient with an optic atrophy ‘plus’ phenotype due to a mutation in the OPA1 gene

Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease

Generation of a human iPSC line from a patient with Leigh syndrome caused by a mutation in the MT-ATP6 gene

Cardiac Dysfunction in Mitochondrial Disease: Clinical and Molecular Features

Mitochondrial Transcription Factor B2 Is Essential for Metabolic Function in Drosophila melanogaster Development

Over-expression of the catalytic core of mitochondrial DNA (mtDNA) polymerase in the nervous system of Drosophila melanogaster reduces median life span by inducing mtDNA depletion

Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies

The pathogenicity scoring system for mitochondrial tRNA mutations revisited

A Drosophila Model of Mitochondrial DNA Replication: Proteins, Genes and Regulation

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