D-2-hydroxyglutarate dehydrogenase, mitochondrial
Definition:
References:
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[1]. Eduard A Struys, et al. Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. Ann Neurol. 2005 Oct;58(4):626-30. [Content Brief]
[2]. Younes Achouri, et al. Identification of a dehydrogenase acting on D-2-hydroxyglutarate. Biochem J. 2004 Jul 1;381(Pt 1):35-42. [Content Brief]
[3]. Martijn Kranendijk, et al. Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria. Hum Mutat. 2010 Mar;31(3):279-83. [Content Brief]
[4]. Eduard A Struys, et al. Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. Am J Hum Genet. 2005 Feb;76(2):358-60. [Content Brief]
[5]. Jun Yang, et al. Structure, substrate specificity, and catalytic mechanism of human D-2-HGDH and insights into pathogenicity of disease-associated mutations. Cell Discov. 2021 Jan 12;7(1):3. [Content Brief]