Biochemical characterization of human D-2-hydroxyglutarate dehydrogenase and two disease related variants reveals the molecular cause of D-2-hydroxyglutaric aciduria.
Biochim Biophys Acta Proteins Proteom. 2019 Nov;1867(11):140255. doi: 10.1016/j.bbapap.2019.07.008. Epub 2019 Jul 23. Biochim Biophys Acta Proteins Proteom. 2019. PMID: 31349060 Free article.
D-2-hydroxyglutaric aciduria is a neurometabolic disorder, characterized by the accumulation of D-2-hydroxyglutarate (D-2HG) in human mitochondria. ...Further analyses revealed that both variants form aggregates that are apparently unable to bind the FAD cofactor. Since, D …
D-2-hydroxyglutaric aciduria is a neurometabolic disorder, characterized by the accumulation of D-2-hydroxyglutarate (D-2HG) in human …