Search Results - "TIRANTI, V"

Response to medical and a novel dietary treatment in newborn screen identified patients with ethylmalonic encephalopathy by Boyer, M., Sowa, M., Di Meo, I., Eftekharian, S., Steenari, M.R., Tiranti, V., Abdenur, J.E.

“…Ethylmalonic encephalopathy (EE) is a devastating neurodegenerative disease caused by mutations in the ETHE1 gene critical for hydrogen sulfide (H2S)…”
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Reduced mitochondrial Ca2+ transients stimulate autophagy in human fibroblasts carrying the 13514A>G mutation of the ND5 subunit of NADH dehydrogenase by Granatiero, V, Giorgio, V, Calì, T, Patron, M, Brini, M, Bernardi, P, Tiranti, V, Zeviani, M, Pallafacchina, G, De Stefani, D, Rizzuto, R

“…Mitochondrial disorders are a group of pathologies characterized by impairment of mitochondrial function mainly due to defects of the respiratory chain and…”
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Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells by Invernizzi, F, D'Amato, I, Jensen, P B, Ravaglia, S, Zeviani, M, Tiranti, V

“…Given the complexity of the respiratory chain structure, assembly and regulation, the diagnostic workout for the identification of defects of oxidative…”
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SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype by Quadalti, C., Brunetti, D., Lagutina, I., Duchi, R., Perota, A., Lazzari, G., Cerutti, R., Di Meo, I., Johnson, M., Bottani, E., Crociara, P., Corona, C., Grifoni, S., Tiranti, V., Fernandez-Vizarra, E., Robinson, A.J., Viscomi, C., Casalone, C., Zeviani, M., Galli, C.

“…Leigh syndrome (LS) associated with cytochrome c oxidase (COX) deficiency is an early onset, fatal mitochondrial encephalopathy, leading to multiple…”
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R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome by Catania, A., Battini, R., Pippucci, T., Pasquariello, R., Chiapparini, M. L., Seri, M., Garavaglia, B., Zorzi, G., Nardocci, N., Ghezzi, D., Tiranti, V.

“…TFG (tropomyosin-receptor kinase fused gene) encodes an essential protein in the regulation of vesicular trafficking between endoplasmic reticulum and Golgi…”
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adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria by Kawamata, Hibiki, Tiranti, Valeria, Magrané, Jordi, Chinopoulos, Christos, Manfredi, Giovanni

“…Mutations in the heart and muscle isoform of adenine nucleotide translocator 1 (ANT1) are associated with autosomal-dominant progressive external…”
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Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance by KAUKONEN, J, JUSELLUS, J. K, TIRANTI, V, KYTTÄLÄ, A, ZEVIANI, M, COMI, G. P, KERÄNEN, S, PELTONEN, L, SUOMALAINEN, A

“…Autosomal dominant progressive external ophthalmoplegia is a rare human disease that shows a Mendelian inheritance pattern, but is characterized by large-scale…”
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Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches by Drousiotou, A, DiMeo, I, Mineri, R, Georgiou, Th, Stylianidou, G, Tiranti, V

“…Drousiotou A, DiMeo I, Mineri R, Georgiou Th, Stylianidou G, Tiranti V. Ethylmalonic encephalopathy: application of improved biochemical and molecular…”
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ETHE1 mutations are specific to ethylmalonic encephalopathy by Tiranti, V, Briem, E, Lamantea, E, Mineri, R, Papaleo, E, Gioia, L De, Forlani, F, Rinaldo, P, Dickson, P, Abu-Libdeh, B, Cindro-Heberle, L, Owaidha, M, Jack, R M, Christensen, E, Burlina, A, Zeviani, M

“…Mutations in ETHE1, a gene located at chromosome 19q13, have recently been identified in patients affected by ethylmalonic encephalopathy (EE). EE is a…”
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Establishing a human neuronal derived-iPSC model to clarify the pathogenetic mechanism for PKAN by Orellana Riquelme, D, Santambrogio, P, Rubio Garrido, A, Cancellieri, C, Venco, P, Taverna, S, Tiranti, V, Garavaglia, B, Broccoli, V, Levi, S

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Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency by Bugiani, M, Tiranti, V, Farina, L, Uziel, G, Zeviani, M

“…Background: Isolated cytochrome c oxidase (COX) deficiency is usually associated with mutations in several factors involved in the biogenesis of COX. Methods:…”
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Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy by Mineri, R, Rimoldi, M, Burlina, A B, Koskull, S, Perletti, C, Heese, B, von Döbeln, U, Mereghetti, P, Di Meo, I, Invernizzi, F, Zeviani, M, Uziel, G, Tiranti, V

“…Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae,…”
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Competitiveness of chia against brassica weeds improves through a narrow spatial arrangement by Anuch Tiranti, Juan V., Curti, Ramiro N., Acreche, Martin M.

“…Chia (Salvia hispanica L.) is a promising crop valued as a sustainable source of omega-3. However, chia yield and quality are reduced because of weed…”
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Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO) by AGOSTINO, A, VALLETTA, L, CHINNERY, P. F, FERRARI, G, CARRARA, F, TAYLOR, R. W, SCHAEFER, A. M, TURNBULL, D. M, TIRANTI, V, ZEVIANI, M

“…To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive external ophthalmoplegia associated with multiple mitochondrial DNA…”
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Sowing density rather than row spacing influences chia radiation use and yield by Anuch Tiranti, Juan V., Curti, Ramiro N., Acreche, Martin Moises

“…Chia (Salvia hispanica L.) production worldwide has been encouraged due to its high essential fatty acid content that is effective for reducing cardiovascular…”
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A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders by Rodenburg, R J T, Schoonderwoerd, G C, Tiranti, V, Taylor, R W, Rötig, A, Valente, L, Invernizzi, F, Chretien, D, He, L, Backx, G P B M, Janssen, K J G M, Chinnery, P F, Smeets, H J, de Coo, I F, van den Heuvel, L P

“…A multicenter comparison of mitochondrial respiratory chain and complex V enzyme activity tests was performed. The average reproducibility of the enzyme assays…”
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Characterization of SURF-1 Expression and Surf-1p Function in Normal and Disease Conditions by Tiranti, Valeria, Galimberti, Claudia, Nijtmans, Leo, Bovolenta, Silvia, Paola Perini, Maria, Zeviani, Massimo

“…Loss-of-function mutations of the SURF-1 gene have been associated with Leigh syndrome with cytochrome c oxidase (COX) deficiency. Mature Surf-1 protein…”
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A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family by NAPOLI, L, BORDONI, A, COMI, G. P, ZEVIANI, M, HADJIGEORGIOU, G. M, SCIACCO, M, TIRANTI, V, TERENTIOU, A, MOGGIO, M, PAPADIMITRIOU, A, SCARLATO, G

“…Autosomal dominant progressive external ophthalmoplegia (adPEO) is caused by mutations in at least three different genes: ANT1 (chromosome 4q34-35), TWINKLE,…”
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A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome by TIRANTI, Valeria, CORONA, Paola, GRECO, Marilena, TAANMAN, Jan-Willem, CARRARA, Franco, LAMANTEA, Eleonora, NIJTMANS, Leo, UZIEL, Graziella, ZEVIANI, Massimo

“…We report on a novel frameshift mutation in the mtDNA gene encoding cytochrome c oxidase (COX) subunit III. The proband is an 11-year-old girl with a negative…”
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Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency by Tiranti, V., Jaksch, M., Hofmann, S., Galimberti, C., Hoertnagel, K., Lulli, L., Freisinger, P., Bindoff, L., Gerbitz, K. D., Comi, G.-P., Uziel, G., Zeviani, M., Meitinger, T.

“…Mutations of SURF‐1, a gene located on chromosome 9q34, have recently been identified in patients affected by Leigh syndrome (LS), associated with deficiency…”
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