Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

The Krebs cycle is of fundamental importance for the generation of the energetic and molecular needs of both prokaryotic and eukaryotic cells. Both enantiomers of metabolite 2-hydroxyglutarate are directly linked to this pivotal biochemical pathway and are found elevated not only in several cancers,...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Nota, Benjamin, Struys, Eduard A., Pop, Ana, Jansen, Erwin E., Fernandez Ojeda, Matilde R., Kanhai, Warsha A., Kranendijk, Martijn, van Dooren, Silvy J.M., Bevova, Marianna R., Sistermans, Erik A., Nieuwint, Aggie W.M., Barth, Magalie, Ben-Omran, Tawfeg, Hoffmann, Georg F., de Lonlay, Pascale, McDonald, Marie T., Meberg, Alf, Muntau, Ania C., Nuoffer, Jean-Marc, Parini, Rossella, Read, Marie-Hélène, Renneberg, Axel, Santer, René, Strahleck, Thomas, van Schaftingen, Emile, van der Knaap, Marjo S., Jakobs, Cornelis, Salomons, Gajja S.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Elsevier 2013
Pynciau:
Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3617390/
https://ncbi.nlm.nih.gov/pubmed/23561848
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.03.009
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