Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2.

Metabolic brain disease - 1 Oct 2018

Thirumal Kumar D, Jerushah Emerald L, George Priya Doss C, Sneha P, Siva R, Charles Emmanuel Jebaraj W, Zayed Hatem

Abstract excerpt

The 2-hydroxyglutaric aciduria (2-HGA) is a rare neurometabolic disorder that leads to the development of brain damage. It is classified into three categories: D-2-HGA, L-2-HGA, and combined D,L-2-HGA. The D-2-HGA includes two subtypes: type I and type II caused by the mutations in D2HGDH and IDH2 proteins, respectively. In this study, we studied six mutations, four in the D2HGDH (I147S, D375Y, N439D, and V444A)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alcohol Oxidoreductases
Share to Brain Diseases, Metabolic, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Drug Discovery

Share to Hydrogen Bonding

Share to Isocitrate Dehydrogenase

Share to Protein Conformation, alpha-Helical

Share to Protein Conformation, beta-Strand

Share to Rare Diseases

Source

Identifiers

PMID: 29987523
DOI: 10.1007/s11011-018-0278-3

Genes

IDH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2.PMID 29987523Read ↗

In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology.Semantic proximity Read ↗

A novel homozygous missense mutation in L-2-HGA gene: A case report.Semantic proximity Read ↗

A novel protein truncating mutation in L2HGDH causes L-2-hydroxyglutaric aciduria in a consanguineous Pakistani family.Semantic proximity Read ↗

Identification of novel L2HGDH gene mutations and update of the pathological spectrum.Semantic proximity Read ↗

A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.Semantic proximity Read ↗

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.Semantic proximity Read ↗

Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.Semantic proximity Read ↗

Investigating the Influence of Hotspot Mutations in Protein-Protein Interaction of IDH1 Homodimer Protein: A Computational Approach.Semantic proximity Read ↗

D-2-Hydroxyglutaric aciduria: unravelling the biochemical pathway and the genetic defect.Semantic proximity Read ↗

Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.Semantic proximity Read ↗

Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase.Semantic proximity Read ↗

Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.