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  • Macropinocytotic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells 

    Patel, D; Rorbach, J; Dowes, K; Szukszto, M; Pekalski, M; Minczuk, Michal
    Mammalian mitochondria can be transferred between cells both in culture and in vivo. There is evidence that isolated mitochondria enter cells by endocytosis, but the mechanism has not been fully characterised. We investigated ...
  • Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like disease 

    Boczonadi, Veronika; King, Martin; Smith, Anthony Colin; Olahova, Monika; Bansagi, Boglarka; Roos, Andreas; Eyassu, Filmon et al.
    Purpose: Members of the mitochondrial carrier family (SLC25) transport metabolites, nucleotides, co-factors and inorganic ions across the mitochondrial inner membrane. Methods: We identified a pathogenic variant in a novel ...
  • MitoCore: a curated constraint-based model for simulating human central metabolism. 

    Smith, Anthony Colin; Eyassu, Filmon; Mazat, Jean-Pierre; Robinson, Alan Jonathan (BioMed Central, 2017-11-25)
    Background: The complexity of metabolic networks can make the origin and impact of changes in central metabolism occurring during diseases difficult to understand. Computer simulations can help unravel this complexity, and ...
  • A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy 

    Legati, Andrea; Reyes, Aurelio Fernando; Ceccatelli Berti, Camilla; Stehling, Oliver; Marchet, Silvia; Lamperti, Costanza; Ferrari, Alberto et al. (BMJ Publishing Group, 2017-12)
    BACKGROUND: Hereditary myopathy with lactic acidosis and myopathy with deficiency of succinate dehydrogenase and aconitase are variants of a recessive disorder characterised by childhood-onset early fatigue, dyspnoea and ...

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