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 […]
Paola Cusumano, Milena Damulewicz, Elena Carbognin, Laura Caccin, Antonietta Puricella, Valeria Specchia, Maria Pia Bozzetti, Rodolfo Costa, Gabriella M. Mazzotta Frontiers in Physiology Circadian clocks control and synchronize biological rhythms of several behavioral and physiological phenomena in most, if not all, organisms. Rhythm generation relies on molecular auto-regulatory oscillations of interlocked transcriptional-translational feedback loops. Rhythmic clock-gene […]
Damulewicz M, Mazzotta GM, Sartori E, Rosato E, Costa R, Pyza EM Frontiers in Molecular Neuroscience, 2017 Drosophila CRYPTOCHROME (CRY) is a blue light sensitive protein with a key role in circadian photoreception. A main feature of CRY is that light promotes an interaction with the circadian protein TIMELESS (TIM) resulting in their ubiquitination and degradation, a […]
Mazzotta GM, Bellanda M, Minervini G, Damulewicz M, Cusumano P, Aufiero S, Stefani M, Zambelli B, Mammi S, Costa R, Tosatto SCE. Frontiers in Molecular Neuroscience, 2018 Light is the main environmental stimulus that synchronizes the endogenous timekeeping systems in most terrestrial organisms. Drosophila cryptochrome (dCRY) is a light-responsive flavoprotein that detects changes in light […]
