List of works - Massimo Zeviani

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB

scientific article

Nuclear gene mutations as the cause of mitochondrial complex III deficiency

scientific article published on 09 April 2015

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

scientific article published on 16 April 2010

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations

scientific article published in August 2008

Epstein-Barr virus immediate-early protein Zta co-opts mitochondrial single-stranded DNA binding protein to promote viral and inhibit mitochondrial DNA replication

scientific article

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

scientific article

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

scientific article published on 5 January 2009

Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1.

scientific article

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

scientific article published in June 2003

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

scientific article published on 22 January 2014

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

scientific article published on 10 July 2013

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

scientific article

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

scientific article published on 31 October 2008

Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism

scientific article published on 27 May 2008

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

scientific article published on 16 May 2008

OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape

scientific article published on February 2008

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

scientific article published on 5 January 2016

Disorders of nuclear-mitochondrial intergenomic communication

scientific article published on June 2007

Cardiomyopathies in disorders of oxidative metabolism

scientific article published on August 1, 1997

Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase

scientific article (publication date: October 1992)

Nucleus-driven mutations of human mitochondrial DNA

scientific article published on January 1, 1992

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

scientific article published on 14 December 2016

Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations

scientific article published on January 1, 2002

MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations

scientific article

Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation

scientific article published on 5 June 2014

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

scientific article

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations

scientific article published on 13 September 2010

Peripheral neuropathy in mitochondrial disorders

scientific article

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

scientific article published on 22 October 2011

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

scientific article published on 10 January 2014

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

scientific article

OPA1 mutations associated with dominant optic atrophy influence optic nerve head size

scientific article published on 24 April 2010

Genotypes from patients indicate no paternal mitochondrial DNA contribution

scientific article published on 01 October 2003

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

scientific article

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

scientific article

Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation

scientific article published in February 2002

Altered Sulfide (H2S) Metabolism in Ethylmalonic Encephalopathy

scientific article published on January 1, 2013

Redefining phenotypes associated with mitochondrial DNA single deletion

scientific article published on 26 March 2015

How do human cells react to the absence of mitochondrial DNA?

scientific article

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

scientific article published on 23 December 2015

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease

scientific article

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

scientific article published on 27 May 2008

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

scientific article published on 01 February 1996

Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32

scientific article published on April 1, 1988

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

scientific article published on 29 September 2010

Instability of mitochondrial DNA and MRI and clinical correlations in malignant gliomas

scientific article

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

scientific article

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes

scientific article published on 22 January 2013

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

scientific journal article

Infantile mitochondrial encephalopathy

scientific article published on 26 May 2011

List of works by Massimo Zeviani

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB

Nuclear gene mutations as the cause of mitochondrial complex III deficiency

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

Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations

Epstein-Barr virus immediate-early protein Zta co-opts mitochondrial single-stranded DNA binding protein to promote viral and inhibit mitochondrial DNA replication

A novel homozygous mutation in SUCLA2 gene identified by exome sequencing

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

Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1.

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

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

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

Single-cell expression profiling of dopaminergic neurons combined with association analysis identifies pyridoxal kinase as Parkinson's disease gene

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations

OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape

Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

Disorders of nuclear-mitochondrial intergenomic communication

Cardiomyopathies in disorders of oxidative metabolism

Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase

Nucleus-driven mutations of human mitochondrial DNA

Dysregulated mitophagy and mitochondrial organization in optic atrophy due to OPA1 mutations.

Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations

MR findings in Leigh syndrome with COX deficiency and SURF-1 mutations

Early macular retinal ganglion cell loss in dominant optic atrophy: genotype-phenotype correlation

Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Defective mitochondrial adenosine triphosphate production in skeletal muscle from patients with dominant optic atrophy due to OPA1 mutations

Peripheral neuropathy in mitochondrial disorders

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

The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells

A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity

OPA1 mutations associated with dominant optic atrophy influence optic nerve head size

Genotypes from patients indicate no paternal mitochondrial DNA contribution

Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome

Biochemical-clinical correlation in patients with different loads of the mitochondrial DNA T8993G mutation

Altered Sulfide (H2S) Metabolism in Ethylmalonic Encephalopathy

Redefining phenotypes associated with mitochondrial DNA single deletion

How do human cells react to the absence of mitochondrial DNA?

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease

Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy

X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant

Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32

Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model

Instability of mitochondrial DNA and MRI and clinical correlations in malignant gliomas

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

The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

Infantile mitochondrial encephalopathy