Associated Papers
Structure, substrate specificity, and catalytic mechanism of human D-2-HGDH and insights into pathogenicity of disease-associated mutations.
Yang J et al.
Cell Discovery, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations
D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.
Pop A et al.
Human Mutation, 2019
Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2.
Thirumal Kumar D et al.
Metabolic Brain Disease, 2018
Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.
Komor AC et al.
Nature, 2016
27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Kranendijk M et al.
Human Mutation, 2010
D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.
Struys EA
Journal of Inherited Metabolic Disease, 2006
Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.
Struys EA et al.
Annals of Neurology, 2005
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