Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research interests include Biology, Mitochondrion, Genetics, Medicine, Mitochondrial DNA, and Mitochondrial disease.
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients
Two independent respiratory chains adapt OXPHOS performance to glycolytic switch
Mitochondrial Neurodegeneration
Mitochondrial Cytochrome c Oxidase Defects Alter Cellular Homeostasis of Transition Metals
Mitochondrial Structure and Bioenergetics in Normal and Disease Conditions
Mitochondrial Retinopathies
NDUFS3 depletion permits complex I maturation and reveals TMEM126A/OPA7 as an assembly factor binding the ND4-module intermediate
Role of PITRM1 in Mitochondrial Dysfunction and Neurodegeneration
DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion
Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia
Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction
Mitochondrial disorders of the OXPHOS system
Respiratory supercomplexes act as a platform for complex III‐mediated maturation of human mitochondrial complexes I and IV
Cytochrome c oxidase deficiency
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the<scp>MNGIE</scp>International Network
Strategies for fighting mitochondrial diseases
ATPase Domain <scp><i>AFG3L2</i></scp> Mutations Alter <scp>OPA1</scp> Processing and Cause Optic Neuropathy
A Single Intravenous Injection of AAV-PHP.B-hNDUFS4 Ameliorates the Phenotype of Ndufs4 Mice
Mutation in the MICOS subunit gene <i>APOO</i> (MIC26) associated with an X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features
Impaired Mitochondrial ATP Production Downregulates Wnt Signaling via ER Stress Induction
miR‐181a/b downregulation exerts a protective action on mitochondrial disease models
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients
Knockdown of APOPT1/COA8 Causes Cytochrome c Oxidase Deficiency, Neuromuscular Impairment, and Reduced Resistance to Oxidative Stress in Drosophila melanogaster
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Mutations in TIMM50 compromise cell survival in OxPhos‐dependent metabolic conditions
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
Recessive mutations in <i>MSTO1</i> cause mitochondrial dynamics impairment, leading to myopathy and ataxia
Revisiting mitochondrial ocular myopathies: a study from the Italian Network
Down-regulation of the mitochondrial aspartate-glutamate carrier isoform 1 AGC1 inhibits proliferation and N-acetylaspartate synthesis in Neuro2A cells