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D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.
Struys EA. Struys EA. J Inherit Metab Dis. 2006 Feb;29(1):21-9. doi: 10.1007/s10545-006-0317-9. J Inherit Metab Dis. 2006. PMID: 16601864 Review.
D-2-Hydroxyglutaric aciduria (D-2-HGA) is a neurometabolic inherited disorder first described in 1980. ...
D-2-Hydroxyglutaric aciduria (D-2-HGA) is a neurometabolic inherited disorder first described in 1980. ...
Inborn errors of metabolite repair.
Veiga-da-Cunha M, Van Schaftingen E, Bommer GT. Veiga-da-Cunha M, et al. J Inherit Metab Dis. 2020 Jan;43(1):14-24. doi: 10.1002/jimd.12187. Epub 2019 Dec 29. J Inherit Metab Dis. 2020. PMID: 31691304 Free PMC article. Review.
Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2-hydroxyglutaric aciduria, D-2-hydroxyglutaric aciduria, 'ubiquitous glucose-6-phosphatase' (G6PC3) deficiency, the neutrope …
Importantly, genetic deficiencies in several metabolite repair enzymes lead to 'inborn errors of metabolite repair', such as L-2-hydroxyglut …
Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduria.
Sugita K, Kakinuma H, Okajima Y, Ogawa A, Watanabe H, Niimi H. Sugita K, et al. Brain Dev. 1995 Mar-Apr;17(2):139-41; discussion 144-5. doi: 10.1016/0387-7604(94)00123-f. Brain Dev. 1995. PMID: 7625550 Review.
The clinical manifestations are quite similar to those of the 2nd reported case with D-2-HG aciduria. Serial MRI performed 1 year and 2 1/2 years after birth demonstrated bilateral symmetrical periventricular lesions in the parieto-occipital white matter, which migh …
The clinical manifestations are quite similar to those of the 2nd reported case with D-2-HG aciduria. Serial MRI performed 1 year and …
The driver and passenger effects of isocitrate dehydrogenase 1 and 2 mutations in oncogenesis and survival prolongation.
Molenaar RJ, Radivoyevitch T, Maciejewski JP, van Noorden CJ, Bleeker FE. Molenaar RJ, et al. Biochim Biophys Acta. 2014 Dec;1846(2):326-41. doi: 10.1016/j.bbcan.2014.05.004. Epub 2014 May 28. Biochim Biophys Acta. 2014. PMID: 24880135 Review.
Mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) are key events in the development of glioma, acute myeloid leukemia (AML), chondrosarcoma, intrahepatic cholangiocarcinoma (ICC), and angioimmunoblastic T-cell lymphoma. They also cause D-2-hydr …
Mutations in isocitrate dehydrogenase 1 and 2 (IDH1 and IDH2) are key events in the development of glioma, acute myeloid leukemia (AM …
Regulation of the mitochondrial ATP-synthase in health and disease.
Das AM. Das AM. Mol Genet Metab. 2003 Jun;79(2):71-82. doi: 10.1016/s1096-7192(03)00069-6. Mol Genet Metab. 2003. PMID: 12809636 Review.
On a molecular level, up-regulation is probably mediated by the calcium-binding inhibitor protein (CaBI) and down-regulation via the inhibitor protein IF(1). The ATP-synthase system is disturbed under several pathophysiological conditions. ...Cells can be rescued by adding …
On a molecular level, up-regulation is probably mediated by the calcium-binding inhibitor protein (CaBI) and down-regulation via the inhibit …