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List of works by Carlo Viscomi

A novel heteroplasmic tRNA(Ser(UCN)) mtDNA point mutation associated with progressive external ophthalmoplegia and hearing loss.

scientific article published on 5 July 2007

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

APOPT1/COA8 assists COX assembly and is oppositely regulated by UPS and ROS

scientific article published on 01 January 2019

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

scientific article published on 25 February 2011

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

scientific article

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

scientific article published on September 2014

Control of mitochondrial superoxide production by reverse electron transport at complex I.

scientific article

Cryo-EM structures of complex I from mouse heart mitochondria in two biochemically defined states

scientific article published on 18 June 2018

Data on cytochrome c oxidase assembly in mice and human fibroblasts or tissues induced by SURF1 defect

scientific article

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

Deep bradycardia and heart block caused by inducible cardiac-specific knockout of the pacemaker channel gene Hcn4

scientific article

Defective PITRM1 mitochondrial peptidase is associated with Aβ amyloidotic neurodegeneration

scientific article published on 23 December 2015

Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy

scientific article published on 13 July 2020

Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells.

scientific article

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

scientific article

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

scientific article

Effects of ketosis in mitochondrial myopathy: potential benefits of a mitotoxic diet

scientific article published on 11 October 2016

Emerging concepts in the therapy of mitochondrial disease

scientific article

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

scientific article

FGF21 is a biomarker for mitochondrial translation and mtDNA maintenance disorders

scientific article published on 28 October 2016

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

Genome editing in mitochondria corrects a pathogenic mtDNA mutation in vivo

scientific article published on 24 September 2018

Heteromeric HCN1-HCN4 channels: a comparison with native pacemaker channels from the rabbit sinoatrial node

scientific article published on 17 April 2003

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

scientific article

Interaction of the pacemaker channel HCN1 with filamin A.

scientific article published on 30 July 2004

Lactic acidosis in a newborn with adrenal calcifications

scientific article published in September 2009

Lifelong reduction in complex IV induces tissue-specific metabolic effects but does not reduce lifespan or healthspan in mice

scientific article published on 25 April 2018

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

scientific article published on 16 April 2010

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

scientific article published on 28 December 2017

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

scientific article

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

scientific article

Metabolic effects of bezafibrate in mitochondrial disease

scientific article published on 28 February 2020

Mitochondrial DNA heteroplasmy is modulated during oocyte development propagating mutation transmission

scientific article published on 08 December 2021

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

scientific article published on 22 October 2011

MtDNA-maintenance defects: syndromes and genes

scientific article published on 21 March 2017

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

scientific article

Neural stem cells traffic functional mitochondria via extracellular vesicles

scientific article published on 07 April 2021

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

scientific article published on June 2015

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

scientific article published on 5 January 2009

Perturbed Redox Signaling Exacerbates a Mitochondrial Myopathy

scholarly article by Sukru Anil Dogan published in November 2018

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

scientific article

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

Quantitative proteomics suggests metabolic reprogramming during ETHE1 deficiency.

scientific article published on 11 February 2016

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

Respiratory chain signalling is essential for adaptive remodelling following cardiac ischaemia

scientific article published on 10 February 2020

TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.

scientific article published on 15 June 2017

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

scientific article

The short N-terminus is required for functional expression of the virus-encoded miniature K(+) channel Kcv.

scientific article published on October 2002

Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects.

scientific article published on 12 January 2016

Towards a therapy for mitochondrial disease: an update

scientific article published in 2018

Transcription Factor EB Controls Metabolic Flexibility during Exercise

scientific article published on 20 December 2016