| Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria. | Loss of function variants in L2HGDH gene causing L-2-hydroxyglutaric aciduria.
Bellad A, Holla VV, Kumari R, Kamble N, Yadav R, Pandey A, Pal PK, Muthusamy B. | 12/1/2023 |
| MYC Regulation of D2HGDH and L2HGDH Influences the Epigenome and Epitranscriptome. | MYC Regulation of D2HGDH and L2HGDH Influences the Epigenome and Epitranscriptome.
Qiu Z, Lin AP, Jiang S, Elkashef SM, Myers J, Srikantan S, Sasi B, Cao JZ, Godley LA, Rakheja D, Lyu Y, Zheng S, Madesh M, Shiio Y, Dahia PLM, Aguiar RCT., Free PMC Article | 05/22/2021 |
| Two novel L2HGDH mutations were identified in a Chinese family with L-2-hydroxyglutaric aciduria. | Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria.
Peng W, Ma XW, Yang X, Zhang WQ, Yan L, Wang YX, Liu X, Wang Y, Feng ZC., Free PMC Article | 05/25/2019 |
| In this study, we describe a large pedigree from Pakistan showing multiple neurological symptoms. Homozygosity mapping and Sanger sequencing revealed a novel missense mutation in L2HGDH gene. | Identification of novel L2HGDH mutation in a large consanguineous Pakistani family- a case report.
Ullah MI, Nasir A, Ahmad A, Harlalka GV, Ahmad W, Hassan MJ, Baple EL, Crosby AH, Chioza BA., Free PMC Article | 12/22/2018 |
| The mutations of the L2HGDH gene as the causes of L-2-hydroxyglutaric aciduria. | 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, Wang C, Yang K, Wang S, Tian G, Chen Y. | 11/10/2018 |
| c.845G>A (p.R282Q) in the exon 7 of the L2HGDH gene is associated with 2-hydroxyglutaric aciduria in Chinese family. | [Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria].
Deng Y, Tang G, Wen P, Wang G, Zhao C, Chen Z, Zhang X, Liu X, Cui D, Li C. | 04/23/2016 |
| Intragenic single nucleotide length polymorphisms and two extragenic microsatellites flanking the L2HGDH gene confirm the founder effect of c.241A>G mutation in the 14 studied cases. | 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, Hadj Salem I, Ellouz E, Kamoun Z, kamoun F, tlili A, Kaabachi N, Triki C, Fakhfakh F, Tunisian Network on Mental Retardation study. | 04/4/2015 |
| modest increases in intracellular 2-HG in acute myeloid leukaemia cells, as seen with the rs11554137 SNP, might enhance chemoresistance, or promote acquisition of leukaemia-iniating mutations | Elevated plasma 2-hydroxyglutarate in acute myeloid leukaemia: association with the IDH1 SNP rs11554137 and severe renal impairment.
Wiseman DH, Small HF, Wilks DP, Waddell ID, Dennis MW, Ogilvie DJ, Somervaille TC. | 08/16/2014 |
| Report ten novel mutations in the L2HGDH gene in patients with L-2-hydroxyglutaric aciduria from different ethnic backgrounds. | L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.
Sass JO, Jobard F, Topçu M, Mahfoud A, Werlé E, Cure S, Al-Sannaa N, Alshahwan SA, Bataillard M, Cimbalistiene L, Grolik C, Kemmerich V, Omran H, Sztriha L, Tabache M, Fischer J. | 01/14/2012 |
| Report three unrelated Tunisian families containing seven patients with L2HGA mutations and inter-familial phenotype variability. | L-2-hydroxyglutaric aciduria: clinical and molecular study in three Tunisian families. Identification of a new mutation and inter-familial phenotype variability.
Larnaout A, Amouri R, Kefi M, Hentati F. | 01/14/2012 |
| L2HGDH mutation is not associated with glioblastoma. | Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma.
Krell D, Assoku M, Galloway M, Mulholland P, Tomlinson I, Bardella C., Free PMC Article | 12/3/2011 |
| We did not find evidence for mutations in the genes D2HGDH and L2HGDH as an alternative mechanism for raised 2-hydroxyglutarate levels in brain tumours | Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.
Brehmer S, Pusch S, Schmieder K, von Deimling A, Hartmann C, Brehmer S, Pusch S, Schmieder K, von Deimling A, Hartmann C. | 06/25/2011 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations.
Brehmer S, Pusch S, Schmieder K, von Deimling A, Hartmann C, Brehmer S, Pusch S, Schmieder K, von Deimling A, Hartmann C. | 12/5/2010 |
| Exonic mutations in the L2HGDH gene in Staffordshire bull terriers have been identified and associated with epilepsy. | Exonic mutations in the L2HGDH gene in Staffordshire bull terriers.
Short AD, Mellersh CS, Platt H, Carter SD, Timofte D, Lohi H, Ollier WE. | 11/6/2010 |
| analysis of genetic heterogeneity in D-2-hydroxyglutaric aciduria | Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria.
Kranendijk M, Struys EA, Gibson KM, Wickenhagen WV, Abdenur JE, Buechner J, Christensen E, de Kremer RD, Errami A, Gissen P, Gradowska W, Hobson E, Islam L, Korman SH, Kurczynski T, Maranda B, Meli C, Rizzo C, Sansaricq C, Trefz FK, Webster R, Jakobs C, Salomons GS. | 10/30/2010 |
| The phenotype, including neurological manifestations and urinary levels of alpha-hydroxyglutarate, is reported and the phenotype-genotype relationship, is evaluated. | An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS. | 08/2/2010 |
| we present three novel mutations (Gln197X, Gly211Val and c.540+1 G>A), which increase the present deleterious collection of L2HGDH gene up to 35 mutationsthat we have compiled in this study. | Identification of novel L2HGDH gene mutations and update of the pathological spectrum.
Vilarinho L, Tafulo S, Sibilio M, Kok F, Fontana F, Diogo L, Venâncio M, Ferreira M, Nogueira C, Valongo C, Parenti G, Amorim A, Azevedo L. | 04/12/2010 |
| Data show that L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene in exon 3 (c.292C-->T) and in exon 7 (c.887T-->A). | L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings.
Haliloglu G, Jobard F, Oguz KK, Anlar B, Akalan N, Coskun T, Sass JO, Fischer J, Topcu M. | 01/21/2010 |
| We successfully treated an adult patient with L-2-hydroxyglutaric aciduria using FAD and levocarnitine. | A successfully treated adult patient with L-2-hydroxyglutaric aciduria.
Samuraki M, Komai K, Hasegawa Y, Kimura M, Yamaguchi S, Terada N, Yamada M. | 01/21/2010 |
| Indicate that 2-ketoglutaric acid is the metabolic precursor of L-2-hydrosyglutaric acid in L-2-hydroxyglutaric acid aciduria. | Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid.
Struys EA, Gibson KM, Jakobs C. | 01/21/2010 |
| data indicate that l-2-hydroxyglutaric aciduria is due to a deficiency in l-2-hydroxyglutarate dehydrogenase | The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase.
Rzem R, Van Schaftingen E, Veiga-da-Cunha M. | 01/21/2010 |
| encodes a putative mitochondrial protein with homology to FAD-dependent oxidoreductases; a mutant gene is accociated with L-2-hydroxyglutaric aciduria.propose to name the gene duranin | L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.
Topçu M, Jobard F, Halliez S, Coskun T, Yalçinkayal C, Gerceker FO, Wanders RJ, Prud'homme JF, Lathrop M, Ozguc M, Fischer J. | 01/21/2010 |