Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Florin Sasarman"'
Autor:
Julie Thompson Legault, Laura Strittmatter, Jessica Tardif, Rohit Sharma, Vanessa Tremblay-Vaillancourt, Chantale Aubut, Gabrielle Boucher, Clary B. Clish, Denis Cyr, Caroline Daneault, Paula J. Waters, Azadeh Aliskashani, Bruce G. Allen, Claudine Beauchamp, Chantal Bemeur, Yan Burelle, Guy Charron, Lise Coderre, Christine Des Rosiers, Sonia Deschênes, François Labarthe, Jeannine Landry, Catherine Laprise, Geneviève Lavallée, Pierre Lavoie, Bruno Maranda, Charles Morin, Yvette Mukaneza, Tamiko Nishimura, John D. Rioux, Marie-Ève Rivard, Florin Sasarman, Eric A. Shoubridge, Nancy Tremblay, Luc Vachon, Josée Villeneuve
Publikováno v:
Cell Reports, Vol 13, Iss 5, Pp 981-989 (2015)
A decline in mitochondrial respiration represents the root cause of a large number of inborn errors of metabolism. It is also associated with common age-associated diseases and the aging process. To gain insight into the systemic, biochemical consequ
Externí odkaz:
https://doaj.org/article/9a62c7ac67234db5a1b82fa740ce6d1e
Autor:
Vafa Bayat, Isabelle Thiffault, Manish Jaiswal, Martine Tétreault, Taraka Donti, Florin Sasarman, Geneviève Bernard, Julie Demers-Lamarche, Marie-Josée Dicaire, Jean Mathieu, Michel Vanasse, Jean-Pierre Bouchard, Marie-France Rioux, Charles M Lourenco, Zhihong Li, Claire Haueter, Eric A Shoubridge, Brett H Graham, Bernard Brais, Hugo J Bellen
Publikováno v:
PLoS Biology, Vol 10, Iss 3, p e1001288 (2012)
An increasing number of genes required for mitochondrial biogenesis, dynamics, or function have been found to be mutated in metabolic disorders and neurological diseases such as Leigh Syndrome. In a forward genetic screen to identify genes required f
Externí odkaz:
https://doaj.org/article/49c361fbff384663a3cdb4b3869b2dcd
Autor:
Florin Sasarman, Sacha Ferdinandusse, David S. Sinasac, Ernest Fung, Rebecca Sparkes, Melanie Reeves, Catherine Rombough, Jörn Oliver Sass, Renate Voit, Jos P. N. Ruiter, Janet Koster, Hans R. Waterham, Elisabetta Pasquini, Maria A. Donati, Thorsten Marquardt, Ronald J. A. Wanders, Walla Al‐Hertani
Publikováno v:
Journal of inherited metabolic disease, 45(3), 445-455. Springer Netherlands
Sasarman, F, Ferdinandusse, S, Sinasac, D S, Fung, E, Sparkes, R, Reeves, M, Rombough, C, Sass, J R O, Voit, R, Ruiter, J P N, Koster, J, Waterham, H R, Pasquini, E, Donati, M A, Marquardt, T, Wanders, R J A & Al-Hertani, W 2022, ' 3-Hydroxyisobutyric acid dehydrogenase deficiency : Expanding the clinical spectrum and quantitation of D-and L-3-Hydroxyisobutyric acid by an LC–MS/MS method ', Journal of Inherited Metabolic Disease, vol. 45, no. 3, pp. 445-455 . https://doi.org/10.1002/jimd.12486
Journal of Inherited Metabolic Disease, 45(3), 445-455. Springer Netherlands
Sasarman, F, Ferdinandusse, S, Sinasac, D S, Fung, E, Sparkes, R, Reeves, M, Rombough, C, Sass, J R O, Voit, R, Ruiter, J P N, Koster, J, Waterham, H R, Pasquini, E, Donati, M A, Marquardt, T, Wanders, R J A & Al-Hertani, W 2022, ' 3-Hydroxyisobutyric acid dehydrogenase deficiency : Expanding the clinical spectrum and quantitation of D-and L-3-Hydroxyisobutyric acid by an LC–MS/MS method ', Journal of Inherited Metabolic Disease, vol. 45, no. 3, pp. 445-455 . https://doi.org/10.1002/jimd.12486
Journal of Inherited Metabolic Disease, 45(3), 445-455. Springer Netherlands
A deficiency of 3-hydroxyisobutyric acid dehydrogenase (HIBADH) has been recently identified as a cause of primary 3-hydroxyisobutyric aciduria in two siblings; the only previously recognized primary cause had been a deficiency of methylmalonic semia
Autor:
Philippe Major, Inge A. Meijer, Grant A. Mitchell, Catalina Maftei, Florin Sasarman, Catherine Brunel-Guitton, Elsa Rossignol, Michel Vanasse
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 5, Iss C, Pp 85-88 (2015)
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports
Fatty acid oxidation disorders and lipin-1 deficiency are the commonest genetic causes of rhabdomyolysis in children. We describe a lipin-1-deficient boy with recurrent, severe rhabdomyolytic episodes from the age of 4 years. Analysis of the LPIN1 ge
Autor:
Benjamin Ellazam, Hana Antonicka, Alexandre Janer, Orly Elpeleg, Neil Webb, Grant A. Mitchell, Catherine Brunel-Guitton, Steven Salomon, Florin Sasarman, Eric A. Shoubridge, Catalina Maftei, Isabelle Thiffault, Woranontee Weraarpachai, Julie Gauthier
Publikováno v:
Human Molecular Genetics. 24:2841-2847
Addition of the trinucleotide cytosine/cytosine/adenine (CCA) to the 3' end of transfer RNAs (tRNAs) is essential for translation and is catalyzed by the enzyme TRNT1 (tRNA nucleotidyl transferase), which functions in both the cytoplasm and mitochond
Autor:
Reetta Hinttala, Tamiko Nishimura, Denis Faubert, Florin Sasarman, Somayyeh Fahiminiya, Elsebet Ostergaard, Catherine Brunel-Guitton, Eric A. Shoubridge, Hana Antonicka, Jeremy Schwartzentruber, Jan A.M. Smeitink, Jacek Majewski
Publikováno v:
Human Molecular Genetics, 24, 4103-13
Human Molecular Genetics, 24, 14, pp. 4103-13
Human Molecular Genetics, 24, 14, pp. 4103-13
Contains fulltext : 153932.pdf (Publisher’s version ) (Closed access) Protein synthesis in mitochondria is initiated by formylmethionyl-tRNA(Met) (fMet-tRNA(Met)), which requires the activity of the enzyme MTFMT to formylate the methionyl group. We
Autor:
Clara D.M. van Karnebeek, Casper Shyr, Alexandre Janer, Hana Antonicka, Malak al Ghamdi, Eric A. Shoubridge, Colin J. D. Ross, Hilary Vallance, Wyeth W. Wasserman, Janis M. Dionne, Sylvia Stockler-Ispiroglu, Florin Sasarman, Mary Dunbar
Publikováno v:
European journal of human genetics, 23(10), 1301-1307. Nature Publishing Group
RMND1 is an integral inner membrane mitochondrial protein that assembles into a large 240 kDa complex to support translation of the 13 polypeptides encoded on mtDNA, all of which are essential subunits of the oxidative phosphorylation (OXPHOS) comple
Autor:
Tamiko Nishimura, Florin Sasarman, Woranontee Weraarpachai, Hana Antonicka, Eric A. Shoubridge
Publikováno v:
Human Molecular Genetics. 24:480-491
French Canadian Leigh Syndrome (LSFC) is an early-onset, progressive neurodegenerative disorder with a distinct pattern of tissue involvement. Most cases are caused by a founder missense mutation in LRPPRC. LRPPRC forms a ribonucleoprotein complex wi
Publikováno v:
Human Molecular Genetics. 23:5159-5170
Complex I of the mitochondrial respiratory chain is a large multisubunit enzyme that assembles from nuclear and mtDNA-encoded components. Several complex I assembly factors have been identified, but their precise functions are not well understood. He
Publikováno v:
Human Mutation. 33:1201-1206
Mutations in the mitochondrial aminoacyl-tRNA synthetases (ARSs) are associated with a strikingly broad range of clinical phenotypes, the molecular basis for which remains obscure. Here, we report a novel missense mutation (c.137G>A, p.Gly46Asp) in t