Corrà S, Checchetto V, Brischigliaro M, Rampazzo C, Bottani E, Gagliani C, Cortese K, De Pittà C, Roverso M, De Stefani D, Bogialli S, Zeviani M, Viscomi C, Szabò I, Costa R iScience Mutations in MPV17 are a major contributor to mitochondrial DNA (mtDNA) depletion syndromes, a group of inherited genetic conditions due to mtDNA […]
Andreatta G, Montagnese S, Costa R Front Physiol Circadian clocks orchestrate a variety of physiological and behavioural functions within the 24-h day. These timekeeping systems have also been implicated in developmental and reproductive processes that span more (or less) than 24 h. Whether natural alleles of cardinal clock genes affect entire sets of life-history traits […]
Brischigliaro M, Badocco D, Costa R, Viscomi C, Zeviani M, Pastore P, Fernández-Vizarra E Front Cell Dev Biol The redox activity of cytochrome c oxidase (COX), the terminal oxidase of the mitochondrial respiratory chain (MRC), depends on the incorporation of iron and copper into its catalytic centers. Many mitochondrial proteins have specific roles for the synthesis and […]
Marnetto D, Pankratov V, Mondal M, Montinaro F, Pärna K, Vallini L, Molinaro L, Saag L, Loog L, Montagnese S, Costa R, Estonian Biobank Research Team, Metspalu M, Eriksson A, Pagani L Current Biology The contemporary European genetic makeup formed in the last 8,000 years when local Western Hunter-Gatherers (WHGs) mixed with incoming Anatolian Neolithic […]
Brischigliaro M, Frigo E, Corrà S, De Pittà C, Szabò I, Zeviani M, Costa R Journal of Molecular Medicine Mutations in BCS1L are the most frequent cause of human mitochondrial disease linked to complex III deficiency. Different forms of BCS1L-related diseases and more than 20 pathogenic alleles have been reported to date. Clinical symptoms are highly heterogenous, and […]
Peruzzo R, Corrà S, Costa R, Brischigliaro M, Varanita T, Biasutto L, Rampazzo C, Ghezzi D, Leanza L, Zoratti M, Zeviani M, De Pittà C, Viscomi C, Costa R, Szabò I Nat Commun. Mitochondrial diseases impair oxidative phosphorylation and ATP production, while effective treatment is still lacking. Defective complex III is associated with a highly variable […]
Von Stockum S, Sanchez-Martinez A, Corrà S, Chakraborty J, Marchesan E, Locatello L, Da-Rè C, Cusumano P, Caicci F, Ferrari V, Costa R, Bubacco L, Rasotto MB, Szabo I, Whitworth AJ, Scorrano L, Ziviani E Life Science Alliance Aberrant mitochondrial dynamics disrupts mitochondrial function and contributes to disease conditions. A targeted RNA interference screen for […]
Biscontin A, Martini P, Costa R, Kramer A, Meyer B, Kawaguchi S, Teschke M, De Pittà C Scientific Reports Antarctic krill (Euphausia superba) is a high latitude pelagic organism which plays a central role in the Southern ocean ecosystem. E. superba shows daily and seasonal rhythms in physiology and behaviour, which are synchronized with the environmental […]
Brischigliaro M, Corrà S, Tregnago C, Fernandez-Vizarra E, Zeviani M, Costa R, De Pittà C Frontiers in Physiology Cytochrome c oxidase (COX) deficiency is the biochemical hallmark of several mitochondrial disorders, including subjects affected by mutations in apoptogenic-1 (APOPT1), recently renamed as COA8 (HGNC:20492). Loss-of-function mutations are responsible for a specific infantile or childhood-onset mitochondrial leukoencephalopathy with a chronic clinical course. […]
Nagy D, Cusumano P, Andreatta G, Anduaga AM, Hermann-Luibl C, Reinhard N, Gesto J, Wegener C, Mazzotta G, Rosato E, Kyriacou CP, Helfrich-Förster C, Costa R. PLoS Genetics With the approach of winter, many insects switch to an alternative protective developmental program called diapause. Drosophila melanogaster females overwinter as adults by inducing a reproductive arrest that is […]
