Mitochondria and oxidative phosphorylation (OxPhos) are essential for cellular homeostasis. However, the phenotypes caused by mitochondrial dysfunction often display remarkable tissue-specificity. What determines the susceptibility of individual cells to metabolic or mitochondrial defects in a complex in vivo tissue co...
S. Petridi, Abhilesh Dhawanjewar, Dnyanesh Dubal et al.· bioRxiv· 0 citations
Mitochondrial DNA depletion syndromes (MDS) are inherited conditions caused by pathogenic variants in mitochondrial DNA maintenance genes. Most MDS are severe, fatal and incurable conditions. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an MDS resulting from loss-of-function mutations in the TYMP ge...
Nissa L. Carrodus, Jenny J. Yang, Javier Ramón et al.· bioRxiv· 0 citations
Nucleoporin-dependent regulation of neuronal responsiveness is identified, in which Nup153 represses neuronal genes including activity-regulated genes (ARGs), in the basal state, by characterizing the genome-wide landscape of chromatin accessibility, histone modifications and Nup153 chromatin binding.
Abhinav Soni, S. Petridi, Maria Ludovica Sforza et al.· bioRxiv· 0 citations
A novel non-invasive postprocessing method, using standard 1H magnetic resonance spectroscopy data, for quantifying muscle total and free carnitine concentrations, which includes an orientation- visibility and spectral fitting component, and consideration of interfering metabolites is described.
K. Schön, L. Watson, H. Biggs et al.· medRxiv· 0 citations
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