List of works - Rafael Garesse

A Drosophila model of mitochondrial DNA replication: proteins, genes and regulation.

scientific article

Animal models of mitochondrial DNA transactions in disease and ageing

scientific article published in February 2010

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population

scientific article published on 01 January 2006

Cardiac dysfunction in mitochondrial disease. Clinical and molecular features

scientific article published on 20 August 2013

Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.

scientific article

Drosophila melanogaster as a model system to study mitochondrial biology

scientific article published on January 2007

Drosophila mitochondrial transcription factor B1 modulates mitochondrial translation but not transcription or DNA copy number in Schneider cells.

scientific article published on 3 March 2005

Drosophila mitochondrial transcription factor B2 regulates mitochondrial DNA copy number and transcription in schneider cells

scientific article published on April 2004

Drosophila nuclear factor DREF regulates the expression of the mitochondrial DNA helicase and mitochondrial transcription factor B2 but not the mitochondrial translation factor B1.

scientific article

Expression of the Drosophila melanogaster ATP synthase alpha subunit gene is regulated by a transcriptional element containing GAF and Adf-1 binding sites.

scientific article

Functional analysis by inducible RNA interference in Drosophila melanogaster

scientific article published on January 2007

Genetic basis of end-stage hypertrophic cardiomyopathy.

scientific article published on 6 September 2011

Glutamyl-tRNAGln amidotransferase is essential for mammalian mitochondrial translation in vivo

scientific journal article

Intracellular redox equilibrium is essential for the constitutive expression of AP-1 dependent genes in resting cells: studies on TGF-β1 regulation.

scientific article

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene

scientific article

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

scientific article published on 19 March 2010

MidA is a putative methyltransferase that is required for mitochondrial complex I function

scientific article

Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

scientific article published on 05 July 2007

Mitochondrial diseases mimicking neurotransmitter defects.

scientific article published on 21 May 2008

Mitochondrial haplogroups associated with end-stage heart failure and coronary allograft vasculopathy in heart transplant patients

scientific article published on 06 August 2011

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

scientific article published on 01 October 2011

Mitochondrial transcription factor B2 is essential for metabolic function in Drosophila melanogaster development

scientific article

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

scientific article

Muscle-specific overexpression of the catalytic subunit of DNA polymerase γ induces pupal lethality in Drosophila melanogaster

scientific article

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

scientific article

Reactive oxygen species mediate the down-regulation of mitochondrial transcripts and proteins by tumour necrosis factor-alpha in L929 cells.

scientific article published in March 2003

The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines.

scientific article published on March 2002

The Drosophila nuclear factor DREF positively regulates the expression of the mitochondrial transcription termination factor DmTTF.

scientific article published in March 2009

The thyroid hormone receptor β induces DNA damage and premature senescence.

scientific article published on January 2014

[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]

scientific article published on 23 June 2010

hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes cytochrome c oxidase assembly in human mitochondria.

scientific article published on 29 January 2013

List of works by Rafael Garesse

A Drosophila model of mitochondrial DNA replication: proteins, genes and regulation.

Animal models of mitochondrial DNA transactions in disease and ageing

Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population

Cardiac dysfunction in mitochondrial disease. Clinical and molecular features

Comparative analysis of the pathogenic mechanisms associated with the G8363A and A8296G mutations in the mitochondrial tRNA(Lys) gene.

Drosophila melanogaster as a model system to study mitochondrial biology

Drosophila mitochondrial transcription factor B1 modulates mitochondrial translation but not transcription or DNA copy number in Schneider cells.

Drosophila mitochondrial transcription factor B2 regulates mitochondrial DNA copy number and transcription in schneider cells

Drosophila nuclear factor DREF regulates the expression of the mitochondrial DNA helicase and mitochondrial transcription factor B2 but not the mitochondrial translation factor B1.

Expression of the Drosophila melanogaster ATP synthase alpha subunit gene is regulated by a transcriptional element containing GAF and Adf-1 binding sites.

Functional analysis by inducible RNA interference in Drosophila melanogaster

Genetic basis of end-stage hypertrophic cardiomyopathy.

Glutamyl-tRNAGln amidotransferase is essential for mammalian mitochondrial translation in vivo

Intracellular redox equilibrium is essential for the constitutive expression of AP-1 dependent genes in resting cells: studies on TGF-β1 regulation.

Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene

Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.

MidA is a putative methyltransferase that is required for mitochondrial complex I function

Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase

Mitochondrial diseases mimicking neurotransmitter defects.

Mitochondrial haplogroups associated with end-stage heart failure and coronary allograft vasculopathy in heart transplant patients

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

Mitochondrial transcription factor B2 is essential for metabolic function in Drosophila melanogaster development

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

Muscle-specific overexpression of the catalytic subunit of DNA polymerase γ induces pupal lethality in Drosophila melanogaster

OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes

Reactive oxygen species mediate the down-regulation of mitochondrial transcripts and proteins by tumour necrosis factor-alpha in L929 cells.

The A8296G mtDNA mutation associated with several mitochondrial diseases does not cause mitochondrial dysfunction in cybrid cell lines.

The Drosophila nuclear factor DREF positively regulates the expression of the mitochondrial transcription termination factor DmTTF.

The thyroid hormone receptor β induces DNA damage and premature senescence.

[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]

hCOA3 stabilizes cytochrome c oxidase 1 (COX1) and promotes cytochrome c oxidase assembly in human mitochondria.