Associated Papers
Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria.
Yang J et al.
The Journal of Biological Chemistry, 2024
Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.
Bellad A et al.
Acta Neurologica Belgica, 2023
In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology.
Muzammal M et al.
Genes, 2022
Teleological role of L-2-hydroxyglutarate dehydrogenase in the kidney.
Brinkley G et al.
Disease Models & Mechanisms, 2020
A Case Report of Chronic Progressive Pancerebellar Syndrome with Leukoencephalopathy:L-2 Hydroxyglutaric Aciduria.
Shah H et al.
Movement Disorders Clinical Practice, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Biochemical and Epigenetic Insights into L-2-Hydroxyglutarate, a Potential Therapeutic Target in Renal Cancer.
Shelar S et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2018
A novel compound heterozygous mutation of the L2HGDH gene in a Chinese boy with L-2-hydroxyglutaric aciduria: case report and literature review.
Zhang Y et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2018
Founder effect confirmation of c.241A>G mutation in the L2HGDH gene and characterization of oxidative stress parameters in six Tunisian families with L-2-hydroxyglutaric aciduria.
Jellouli NK et al.
Journal of Human Genetics, 2014
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg ME et al.
Human Mutation, 2010
Identification of novel L2HGDH gene mutations and update of the pathological spectrum.
Vilarinho L et al.
Journal of Human Genetics, 2010
L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability.
Larnaout A et al.
Journal of Inherited Metabolic Disease, 2008
The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.
Rzem R et al.
Biochimie, 2006
Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.
Vilarinho L et al.
Human Mutation, 2005