Blar i Department of Clinical Medicine på forfatter "Ghezzi, Daniele"

Viser treff 1-4 av 4

    • ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 

      Hikmat, Omar; Tzoulis, Charalampos; Knappskog, Per; Johansson, Stefan; Boman, Helge; Sztromwasser, Pawel Szymon; Lien, Espen; Brodtkorb, Eylert; Ghezzi, Daniele; Bindoff, Laurence (Peer reviewed; Journal article, 2016-07)
      Background and purpose: Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3 is one of several genes associated with CoQ10 deficiency that ...

    • Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease 

      Hikmat, Omar; Isohanni, Pirjo; Keshavan, Nandaki; Ferla, Matteo P.; Fassone, Elisa; Abbott, Mary-Alice; Bellusci, Marcello; Darin, Niklas; Dimmock, David; Ghezzi, Daniele; Houlden, Henry; Invernizzi, Federica; Kamarus Jaman, Nazreen B.; Kurian, Manju A.; Morava, Eva; Naess, Karin; Ortigoza-Escobar, Juan Darío; Parikh, Sumit; Pennisi, Alessandra; Barcia, Giulia; Tylleskär, Karin; Brackman, Damien; Wortmann, Saskia B.; Taylor, Jenny C.; Bindoff, Laurence Albert; Fellman, Vineta; Rahman, Shamima (Journal article; Peer reviewed, 2021)
      Objective To delineate the full phenotypic spectrum of BCS1L-related disease, provide better understanding of the genotype–phenotype correlations and identify reliable prognostic disease markers. Methods We performed ...

    • PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients 

      Di Donfrancesco, Alessia; Berlingieri, Christian; Giacomello, Marta; Frascarelli, Chiara; Magalhaes Rebelo, Ana Paula; Bindoff, Laurence Albert; Reeval, Segel; Renbaum, Paul; Santorelli, Filippo M.; Massaro, Giulia; Viscomi, Carlo; Zeviani, Massimo; Ghezzi, Daniele; Bottani, Emanuela; Brunetti, Dario (Journal article; Peer reviewed, 2023)
      Introduction: Biallelic variants in PITRM1 are associated with a slowly progressive syndrome characterized by intellectual disability, spinocerebellar ataxia, cognitive decline and psychosis. The pitrilysin metallopeptidase ...

    • Role of pitrm1 in mitochondrial dysfunction and neurodegeneration 

      Brunetti, Dario; Catania, Alessia; Viscomi, Carlo; Deleidi, Michela; Bindoff, Laurence Albert; Ghezzi, Daniele; Zeviani, Massimo (Journal article; Peer reviewed, 2021)
      Mounting evidence shows a link between mitochondrial dysfunction and neurodegenerative disorders, including Alzheimer Disease. Increased oxidative stress, defective mitodynamics, and impaired oxidative phosphorylation ...