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L2HGDH gene
Known as:
L-2-HYDROXYGLUTARATE DEHYDROGENASE
, C14ORF160
, 2-hydroxyglutarate dehydrogenase
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National Institutes of Health
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
[A pedigree of L-2-hydroxyglutaric aciduria including 3 patients caused by homozygous L2HGDH variant].
Yan Li
,
Hongyan Huang
,
Yan-ming Xu
Zhonghua yi xue yi chuan xue za zhi = Zhonghua…
2020
Corpus ID: 220335301
2019
2019
Epigenetic dysregulation by aberrant metabolism in renal cell carcinoma can be reversed with Ascorbic acid
N. Shenoy
Molecular & Cellular Oncology
2019
Corpus ID: 133213871
ABSTRACT Our recently published study uncovered mechanisms and prognostic impact of aberrant DNA methylation/hydroxymethylation…
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2018
2018
Retroviral signature can predict therapy outcome
Annette Fenner
Nature reviews. Urology
2018
Corpus ID: 52192344
2016
2016
White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria
Toshiyuki Yamamoto
,
S. Yoshioka
,
+5 authors
N. Matsumoto
Brain & development (Tokyo. )
2016
Corpus ID: 19093291
2016
2016
[Analysis of L2HGDH gene mutation in a patient with 2-hydroxyglutaric aciduria].
Y. Deng
,
G. Tang
,
+7 authors
Chengrong Li
Zhonghua yi xue yi chuan xue za zhi = Zhonghua…
2016
Corpus ID: 38208914
OBJECTIVE To explore pathogenic mutation in a family affected with 2-hydroxyglutaric aciduria. METHODS Exons of 3 candidate…
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2015
2015
Plants Possess a Cyclic Mitochondrial Metabolic Pathway similar to the Mammalian Metabolic Repair Mechanism Involving Malate Dehydrogenase and l-2-Hydroxyglutarate Dehydrogenase.
Meike Hüdig
,
Alexander Maier
,
+5 authors
V. Maurino
Plant and Cell Physiology
2015
Corpus ID: 18140312
Enzymatic side reactions can give rise to the formation of wasteful and toxic products that are removed by metabolite repair…
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2015
2015
Another small molecule in the oncometabolite mix: L-2-Hydroxyglutarate in kidney cancer
E. Shim
,
S. Sudarshan
Oncoscience
2015
Corpus ID: 14870275
Alterations in metabolism are now considered a hallmark of cancer. One of the clearest links between metabolism and malignancy…
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2013
2013
Reply to Struys: Role of biomarker of 2-hydroxyglutarate in acute myeloid leukemia
Yang Shen
,
Jinghan Wang
,
Wen-Lian Chen
,
W. Jia
,
Saijuan Chen
,
Zhu Chen
Proceedings of the National Academy of Sciences…
2013
Corpus ID: 33853164
We agree with E. A. Struys’ point (1) that 2-hydroxyglutarate (2-HG) consists of two distinct forms, l-2-hydroxyglutarate (L2HG…
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2011
2011
Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations
S. Brehmer
,
S. Pusch
,
K. Schmieder
,
A. von Deimling
,
C. Hartmann
Neuropathology and Applied Neurobiology
2011
Corpus ID: 205374814
Heterozygous mutations in the highly homologous genes encoding cytosolic isocitrate dehydrogenase 1 (IDH1) and mitochondrial…
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2010
2010
Identification of novel L2HGDH gene mutations and update of the pathological spectrum
L. Vilarinho
,
S. Tafulo
,
+10 authors
L. Azevedo
Journal of Human Genetics
2010
Corpus ID: 30012574
L-2-hydroxyglutaric aciduria (L-2-HGA, MIM 236792) is a neurometabolic disorder caused by the toxic accumulation of high…
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