Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

S-adenosylmethionine (SAM) is the predominant methyl group donor and has a large spectrum of target substrates. As such, it is essential for nearly all biological methylation reactions. SAM is synthesized by methionine adenosyltransferase from methionine and ATP in the cytoplasm and subsequently dis...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Kishita, Yoshihito, Pajak, Aleksandra, Bolar, Nikhita Ajit, Marobbio, Carlo M.T., Maffezzini, Camilla, Miniero, Daniela V., Monné, Magnus, Kohda, Masakazu, Stranneheim, Henrik, Murayama, Kei, Naess, Karin, Lesko, Nicole, Bruhn, Helene, Mourier, Arnaud, Wibom, Rolf, Nennesmo, Inger, Jespers, Ann, Govaert, Paul, Ohtake, Akira, Van Laer, Lut, Loeys, Bart L., Freyer, Christoph, Palmieri, Ferdinando, Wredenberg, Anna, Okazaki, Yasushi, Wedell, Anna
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2015
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Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4667130/
https://ncbi.nlm.nih.gov/pubmed/26522469
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.09.013
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