List of works - Massimo Zeviani

Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation

scientific article published in June 2005

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

scientific article published in Nature

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool

scientific article

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

scientific article

Systematic identification of human mitochondrial disease genes through integrative genomics

scientific article

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

scientific article

Mitochondrial disorders

scientific article published in 2004

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

scientific article

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

scientific article

Mitochondrial diseases

scientific article by Gráinne S. Gorman et al. published in 2016

Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice

scientific article published on 08 January 2007

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

scientific article

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

scientific article

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

scientific article

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

scientific article

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

scientific article

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

scientific article published on 25 April 2006

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

scientific article

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

scientific article

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

scientific article published on 2 February 2005

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects

scientific article published on 21 June 2008

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

scientific article

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

scientific article

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

scientific article

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

scientific article

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

scientific article published on 17 May 2012

New treatments for mitochondrial disease-no time to drop our standards

scientific article published on 02 July 2013

Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders

scientific article

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians

scientific article

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

scientific article

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

scientific article

Novel (ovario) leukodystrophy related to AARS2 mutations

scientific article

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

scientific article

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

scientific article

A SIRT7-dependent acetylation switch of GABPβ1 controls mitochondrial function

scientific article published on 4 September 2014

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy

scientific article

Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia

scientific article

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

scientific article

Idebenone treatment in Leber's hereditary optic neuropathy.

scientific article published on 2 August 2011

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

scientific article

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

scientific article published on 22 May 2008

Transcription Factor EB Controls Metabolic Flexibility during Exercise

scientific article published on 20 December 2016

Human mitochondrial complex I assembly is mediated by NDUFAF1.

scientific article

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

scientific article published on June 2015

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

scientific article

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

scientific article

Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I

scientific article

Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation

scientific article published in May 2009

Isolation of mitochondria for biogenetical studies: An update

scientific article

Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology

scientific article published on January 2012

List of works by Massimo Zeviani

Oxygen sensing requires mitochondrial ROS but not oxidative phosphorylation

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool

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

Systematic identification of human mitochondrial disease genes through integrative genomics

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

Mitochondrial disorders

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene

Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background

Mitochondrial diseases

Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

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

Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.

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

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

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

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.

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

Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy

Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis

New treatments for mitochondrial disease-no time to drop our standards

Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders

Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians

Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu

Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder

Novel (ovario) leukodystrophy related to AARS2 mutations

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor

A SIRT7-dependent acetylation switch of GABPβ1 controls mitochondrial function

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy

Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

Idebenone treatment in Leber's hereditary optic neuropathy.

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase

Transcription Factor EB Controls Metabolic Flexibility during Exercise

Human mitochondrial complex I assembly is mediated by NDUFAF1.

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

POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection

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

Dysfunctions of cellular oxidative metabolism in patients with mutations in the NDUFS1 and NDUFS4 genes of complex I

Expression of the Ciona intestinalis alternative oxidase (AOX) in Drosophila complements defects in mitochondrial oxidative phosphorylation

Isolation of mitochondria for biogenetical studies: An update

Assembly factors of human mitochondrial respiratory chain complexes: physiology and pathophysiology