V. Del Dotto

发表

Metabolomics hallmarks OPA1 variants correlating with their in vitro phenotype and predicting clinical severity

D. Bonneau, G. Lenaers, P. Reynier, 2020, Human molecular genetics.

DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism

E. Mignot, G. Plazzi, C. La Morgia, 2020, Human molecular genetics.

Pathological mitophagy disrupts mitochondrial homeostasis in Leber’s hereditary optic neuropathy

V. Tiranti, C. Tacchetti, C. La Morgia, 2022, Cell reports.

Syndromic parkinsonism and dementia associated with OPA 1 missense mutations

M. Zeviani, G. Rizzo, P. Barboni, 2015, Annals of neurology.

Mitochondrial Mass Assessment in a Selected Cell Line under Different Metabolic Conditions

A. Costanzini, A. Baracca, G. Sgarbi, 2019, Cells.

Dominant Optic Atrophy (DOA): Modeling the Kaleidoscopic Roles of OPA1 in Mitochondrial Homeostasis

V. Carelli, V. Del Dotto, Valentina Del Dotto, 2021, Frontiers in Neurology.

Eight human OPA1 isoforms, long and short: What are they for?

C. Zanna, M. Rugolo, V. Carelli, 2018, Biochimica et biophysica acta. Bioenergetics.

OPA1 Isoforms in the Hierarchical Organization of Mitochondrial Functions.

Prashant Mishra, G. Lenaers, J. McCaffery, 2017, Cell reports.

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

G. Savini, P. Barboni, M. Carbonelli, 2020, Scientific Reports.

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys

C. La Morgia, M. Montopoli, V. Carelli, 2022, Molecular medicine.

ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy

M. Zeviani, R. Schüle, L. Schöls, 2020, Annals of neurology.

Expanding and validating the biomarkers for mitochondrial diseases

C. La Morgia, V. Carelli, L. Di Vito, 2020, Journal of Molecular Medicine.

Drug repositioning as a therapeutic strategy for neurodegenerations associated with OPA1 mutations

A. Ghelli, C. Zanna, M. Rugolo, 2020, Human molecular genetics.

SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.

E. Bertini, V. Tiranti, R. Carrozzo, 2019, The Journal of clinical investigation.

Deciphering OPA1 mutations pathogenicity by combined analysis of human, mouse and yeast cell models.

C. La Morgia, F. Musiani, C. Zanna, 2018, Biochimica et biophysica acta. Molecular basis of disease.

OPA1: How much do we know to approach therapy?

G. Lenaers, C. Zanna, M. Rugolo, 2018, Pharmacological research.

Incomplete penetrance in mitochondrial optic neuropathies.

C. La Morgia, V. Carelli, M. Valentino, 2017, Mitochondrion.

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathy

A. Torroni, P. Barboni, M. Carbonelli, 2018, PLoS genetics.

Cigarette toxicity triggers Leber's hereditary optic neuropathy by affecting mtDNA copy number, oxidative phosphorylation and ROS detoxification pathways

C. La Morgia, A. Ghelli, V. Carelli, 2015, Cell Death and Disease.

Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome

G. Savini, P. Barboni, M. Carbonelli, 2020, Scientific Reports.

Rapamycin rescues mitochondrial dysfunction in cells carrying the m.8344A > G mutation in the mitochondrial tRNALys

C. La Morgia, M. Montopoli, V. Carelli, 2022, Molecular Medicine.

Methyl carbamates of phosphatidylethanolamines and phosphatidylserines reveal bacterial contamination in mitochondrial lipid extracts of mouse embryonic fibroblasts

I. Losito, T. Cataldi, V. Carelli, 2023, Scientific reports.

The Pro-Oncogenic Protein IF1 Promotes Proliferation of Anoxic Cancer Cells during Re-Oxygenation

C. Zanna, A. Costanzini, A. Baracca, 2023, International journal of molecular sciences.