List of works - Ivano Di Meo

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

scientific article

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

scientific article

C4.4A gene ablation is compatible with normal epidermal development and causes modest overt phenotypes

scientific article published on 12 May 2016

Classification and molecular pathogenesis of NBIA syndromes.

scientific article published on 17 January 2018

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

scientific article published on 3 January 2018

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

scientific article

Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways

scientific article published on 16 November 2018

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches

scientific article

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

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration ⬇️

scientific article published on 22 May 2020

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

scientific article

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

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

Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model

scientific article published on 19 December 2020

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy

scientific article published on 14 February 2018

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

scientific article published on 01 January 2020

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.

scientific article published on 27 March 2018

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs

scientific article published on 29 July 2021

Transcription Factor EB Controls Metabolic Flexibility during Exercise

scientific article published on 20 December 2016

List of works by Ivano Di Meo

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.

C4.4A gene ablation is compatible with normal epidermal development and causes modest overt phenotypes

Classification and molecular pathogenesis of NBIA syndromes.

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

Coenzyme Q deficiency causes impairment of the sulfide oxidation pathway.

Dissection of metabolic reprogramming in polycystic kidney disease reveals coordinated rewiring of bioenergetic pathways

Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches

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

Harmful Iron-Calcium Relationship in Pantothenate kinase Associated Neurodegeneration ⬇️

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

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

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

Neuronal Ablation of CoA Synthase Causes Motor Deficits, Iron Dyshomeostasis, and Mitochondrial Dysfunctions in a CoPAN Mouse Model

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype.

The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs

Transcription Factor EB Controls Metabolic Flexibility during Exercise