List of works - Massimo Zeviani

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

scientific article

Risk of developing a mitochondrial DNA deletion disorder

scientific article published in The Lancet

Mitochondrial disorders

scientific article published in 2007

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

scientific article

Expression of the SMN Gene, the Spinal Muscular Atrophy Determining Gene, in the Mammalian Central Nervous System

scientific article published on October 1, 1997

Disorders of nuclear-mitochondrial intergenomic signaling

scientific article

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

scientific article

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

scientific article

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

scientific article

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

scientific article published on 07 September 2016

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

scientific article

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

scientific article published on July 1, 1997

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

scientific article published in January 2005

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

scientific article published in May 2013

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

scientific article

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

scientific article published on 4 September 2008

Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.

scientific article published on 29 August 2006

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

scientific article

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

scientific article published on 25 February 2011

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

scientific article

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

scientific article published on 24 June 2014

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

scientific article published on September 2014

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

scientific article

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

scientific article

Depletion of mtDNA: syndromes and genes

scientific article published on 5 December 2006

MtDNA-maintenance defects: syndromes and genes

scientific article published on 21 March 2017

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

scientific article (publication date: May 2001)

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability

scientific article published on 11 March 2004

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

scientific journal article

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

scientific article

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.

scientific article published on 30 December 2009

Emerging concepts in the therapy of mitochondrial disease

scientific article

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

scientific article published on 28 October 2016

Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes

scientific article

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

scientific article

Effects of riboflavin in children with complex II deficiency

scientific article

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

scientific article

Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis

scientific article

155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands

scientific article published on 21 December 2007

LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells

scientific article

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

scientific article published on 15 October 2008

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

scientific article published on 8 March 2016

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

scientific article published on 24 September 2018

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

scientific article published in January 2002

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

scientific article

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum

scientific article published in April 2008

Nuclear genes in mitochondrial disorders.

scientific article

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

scientific article

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

scientific article

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

scientific article

List of works by Massimo Zeviani

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Risk of developing a mitochondrial DNA deletion disorder

Mitochondrial disorders

Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

Expression of the SMN Gene, the Spinal Muscular Atrophy Determining Gene, in the Mammalian Central Nervous System

Disorders of nuclear-mitochondrial intergenomic signaling

Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy

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

Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)

Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes

Syndromic parkinsonism and dementia associated with OPA1 missense mutations

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency

Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans.

Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy

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

Cowchock syndrome is associated with a mutation in apoptosis-inducing factor

VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies

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

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

Depletion of mtDNA: syndromes and genes

MtDNA-maintenance defects: syndromes and genes

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency

Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability

Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.

Sym1, the yeast ortholog of the MPV17 human disease protein, is a stress-induced bioenergetic and morphogenetic mitochondrial modulator.

Emerging concepts in the therapy of mitochondrial disease

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast

Effects of riboflavin in children with complex II deficiency

RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy

Phenylbutyrate therapy for pyruvate dehydrogenase complex deficiency and lactic acidosis

155th ENMC workshop: polymerase gamma and disorders of mitochondrial DNA synthesis, 21-23 September 2007, Naarden, The Netherlands

LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells

Identification of novel mutations in five patients with mitochondrial encephalomyopathy.

New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum

Nuclear genes in mitochondrial disorders.

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy

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

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