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List of works by Massimo Zeviani

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Foxg1 localizes to mitochondria and coordinates cell differentiation and bioenergetics

scientific article
Idebenone treatment in patients with OPA1-mutant dominant optic atrophy

scientific article
Mitochondrial disorders

scientific article published in 2003
Mitochondrial diseases: a cross-talk between mitochondrial and nuclear genomes

scientific article published on January 2009
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network

scientific article
MR-1S Interacts with PET100 and PET117 in Module-Based Assembly of Human Cytochrome c Oxidase

scientific article published on February 2017
Myoclonus in mitochondrial disorders

scientific article published on 7 February 2014
Oxidative phosphorylation dysfunction does not increase the rate of accumulation of age-related mtDNA deletions in skeletal muscle

scientific article published on 01 September 1997
Neuronal complex I deficiency occurs throughout the Parkinson's disease brain, but is not associated with neurodegeneration or mitochondrial DNA damage

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

scientific article published on 25 July 2013
Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation

scientific article published on 12 October 2010
Mitochondrial disorders

scientific article published on 01 October 2003
Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene

scientific article published on July 2012
Bilateral putaminal necrosis associated with the mitochondrial DNA A8344G myoclonus epilepsy with ragged red fibers (MERRF) mutation: an infantile case

scientific article published in January 2006
The R336Q mutation in human mitochondrial EFTu prevents the formation of an active mt-EFTu.GTP.aa-tRNA ternary complex

scientific article published on 12 June 2009
Defects of mitochondrial DNA

scientific article published on April 1, 1992
Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population

scientific article published in September 2008
Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

scientific article published on 3 September 2016
Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy

scholarly article by Sukru Anil Dogan published in November 2018
UCP4C mediates uncoupled respiration in larvae of Drosophila melanogaster

scientific article published on 17 March 2014
A novel mutation in the mitochondrial tRNA(Pro) gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

scientific article
A Novel Homozygous YARS2 Mutation in Two Italian Siblings and a Review of Literature

scientific article
Ataxia in mitochondrial disorders

scientific article published on January 2012
The expanding spectrum of nuclear gene mutations in mitochondrial disorders

scientific article published on December 1, 2001
Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN) gene

scientific article published in November 2004
Functional characterization of drim2, the Drosophila melanogaster homolog of the yeast mitochondrial deoxynucleotide transporter

scientific article published on 27 January 2014
Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.

scientific article published on 12 January 2016
Human diseases associated with defects in assembly of OXPHOS complexes

scholarly article by Daniele Ghezzi published in July 2018
Zidovudine administration during pregnancy and mitochondrial disease in the offspring

scientific article
A nonsense mutation of human XRCC4 is associated with adult-onset progressive encephalocardiomyopathy

scientific article published on 14 April 2015
Recessive mutations in MSTO1 cause mitochondrial dynamics impairment, leading to myopathy and ataxia

scientific article published on 23 May 2017
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency

scientific article published in March 2002
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

scientific article published on 25 August 2017
Frequency of DYT1 mutation in early onset primary dystonia in Italian patients

article
The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe

scientific article published in April 2007
miR-181a/b downregulation exerts a protective action on mitochondrial disease models

scientific article published on 01 May 2019
X-Inactivation patterns in females harboring mtDNA mutations that cause Leber hereditary optic neuropathy.

scientific article
Inhibition of proteasome rescues a pathogenic variant of respiratory chain assembly factor COA7

scientific article published on 01 May 2019
Disorders of mitochondria and related metabolism

scientific article published on April 1997
Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: An example of phenotypic mimicry?

scientific article published on 01 December 1991
Mutations in compromise cell survival in OxPhos-dependent metabolic conditions

scientific article published on 01 October 2018
TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.

scientific article published on 15 June 2017
Mitochondrial disorders

scientific article published on 01 September 2003
Frequency and phenotypes of LRRK2 G2019S mutation in Italian patients with Parkinson's disease

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

scientific article published on 28 December 2017
Leigh syndrome in Drosophila melanogaster: morphological and biochemical characterization of Surf1 post-transcriptional silencing

scientific article published on 27 August 2014
Adult-onset Alexander disease, associated with a mutation in an alternative GFAP transcript, may be phenotypically modulated by a non-neutral HDAC6 variant

scientific article published on May 2013
A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy

scientific article published on 27 October 2017
COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

scientific article published on 28 September 2016

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