Lista de obras -

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

artículo científico publicado en 2007

AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure

artículo científico publicado en 2014

AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.

artículo científico publicado en 2017

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

artículo científico publicado en 2019

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy

artículo científico publicado en 2011

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

artículo científico publicado en 2010

Complex IV-deficient Surf1(-/-) mice initiate mitochondrial stress responses

artículo científico publicado en 2014

Control of mitochondrial superoxide production by reverse electron transport at complex I.

artículo científico publicado en 2018

Cryo-EM structures of complex I from mouse heart mitochondria in two biochemically defined states ⬇️

artículo científico publicado en 2018

Data on cytochrome c oxidase assembly in mice and human fibroblasts or tissues induced by SURF1 defect

artículo científico publicado en 2016

Decreased in vitro mitochondrial function is associated with enhanced brain metabolism, blood flow, and memory in Surf1-deficient mice

artículo científico publicado en 2013

Deep bradycardia and heart block caused by inducible cardiac-specific knockout of the pacemaker channel gene Hcn4

artículo científico publicado en 2011

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

artículo científico publicado en 2015

Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy

scientific article published on 13 July 2020

Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells.

artículo científico publicado en 2017

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

artículo científico publicado en 2008

Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy

artículo científico publicado en 2012

Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet

artículo científico publicado en 2016

Emerging concepts in the therapy of mitochondrial disease

artículo científico publicado en 2015

Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations

artículo científico publicado en 2011

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

scientific article published on 28 October 2016

Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.

artículo científico publicado en 2014

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

artículo científico publicado en 2018

Heteromeric HCN1-HCN4 channels: a comparison with native pacemaker channels from the rabbit sinoatrial node

artículo científico

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

artículo científico publicado en 2011

Interaction of the pacemaker channel HCN1 with filamin A.

artículo científico publicado en 2004

Lactic acidosis in a newborn with adrenal calcifications

artículo científico publicado en 2009

Lifelong reduction in complex IV induces tissue-specific metabolic effects but does not reduce lifespan or healthspan in mice

artículo científico publicado en 2018

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

artículo científico publicado en 2010

Long-term sustained effect of liver-targeted AAV gene therapy for MNGIE.

artículo científico publicado en 2017

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

artículo científico publicado en 2009

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

artículo científico publicado en 2006

Metabolic effects of bezafibrate in mitochondrial disease

artículo científico publicado en 2020

Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission

artículo científico publicado en 2021

Mitochondrial Neurodegeneration

artículo científico publicado en 2022

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy

artículo científico publicado en 2011

MtDNA-maintenance defects: syndromes and genes

artículo científico publicado en 2017

NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease

artículo científico publicado en 2014

Neural stem cells traffic functional mitochondria via extracellular vesicles

artículo científico publicado en 2021

Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models.

artículo científico publicado en 2015

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence

artículo científico publicado en 2009

Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy

scholarly article by Sukru Anil Dogan published in November 2018

Pharmacological Inhibition of poly(ADP-ribose) polymerases improves fitness and mitochondrial function in skeletal muscle

artículo científico publicado en 2014

Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications

artículo científico publicado en 2013

Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency.

artículo científico

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

scholarly article by Gabriele Civiletto et al published 11 October 2018 in EMBO Molecular Medicine

Respiratory chain signalling is essential for adaptive remodelling following cardiac ischaemia

artículo científico publicado en 2020

TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.

artículo científico publicado en 2017

The OPA1-dependent mitochondrial cristae remodeling pathway controls atrophic, apoptotic, and ischemic tissue damage

artículo científico publicado en 2015

The short N-terminus is required for functional expression of the virus-encoded miniature K(+) channel Kcv.

artículo científico publicado en 2002

Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.

artículo científico publicado en 2016

Towards a therapy for mitochondrial disease: an update

artículo científico publicado en 2018

Transcription Factor EB Controls Metabolic Flexibility during Exercise

artículo científico publicado en 2016

Lista de obras de

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure

AAV9-based gene therapy partially ameliorates the clinical phenotype of a mouse model of Leigh syndrome.

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

Chronic exposure to sulfide causes accelerated degradation of cytochrome c oxidase in ethylmalonic encephalopathy

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

Complex IV-deficient Surf1(-/-) mice initiate mitochondrial stress responses

Control of mitochondrial superoxide production by reverse electron transport at complex I.

Cryo-EM structures of complex I from mouse heart mitochondria in two biochemically defined states ⬇️

Data on cytochrome c oxidase assembly in mice and human fibroblasts or tissues induced by SURF1 defect

Decreased in vitro mitochondrial function is associated with enhanced brain metabolism, blood flow, and memory in Surf1-deficient mice

Deep bradycardia and heart block caused by inducible cardiac-specific knockout of the pacemaker channel gene Hcn4

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy

Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells.

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy

Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet

Emerging concepts in the therapy of mitochondrial disease

Evolution meets disease: penetrance and functional epistasis of mitochondrial tRNA mutations

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

Gene therapy using a liver-targeted AAV vector restores nucleoside and nucleotide homeostasis in a murine model of MNGIE.

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

Heteromeric HCN1-HCN4 channels: a comparison with native pacemaker channels from the rabbit sinoatrial node

In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis

Interaction of the pacemaker channel HCN1 with filamin A.

Lactic acidosis in a newborn with adrenal calcifications

Lifelong reduction in complex IV induces tissue-specific metabolic effects but does not reduce lifespan or healthspan in mice

Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes

Long-term sustained effect of liver-targeted AAV gene therapy for MNGIE.

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Metabolic effects of bezafibrate in mitochondrial disease

Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission

Mitochondrial Neurodegeneration

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy

MtDNA-maintenance defects: syndromes and genes

NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease

Neural stem cells traffic functional mitochondria via extracellular vesicles

Opa1 overexpression ameliorates the phenotype of two mitochondrial disease mouse models.

Paroxysmal non-kinesigenic dyskinesia is caused by mutations of the MR-1 mitochondrial targeting sequence

Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy

Pharmacological Inhibition of poly(ADP-ribose) polymerases improves fitness and mitochondrial function in skeletal muscle

Proteome adaptations in Ethe1-deficient mice indicate a role in lipid catabolism and cytoskeleton organization via post-translational protein modifications

Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency.

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

Respiratory chain signalling is essential for adaptive remodelling following cardiac ischaemia

TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.

The OPA1-dependent mitochondrial cristae remodeling pathway controls atrophic, apoptotic, and ischemic tissue damage

The short N-terminus is required for functional expression of the virus-encoded miniature K(+) channel Kcv.

Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.

Towards a therapy for mitochondrial disease: an update

Transcription Factor EB Controls Metabolic Flexibility during Exercise