Progress in understanding 2‐hydroxyglutaric acidurias

An Integrated Genomic Analysis of Human Glioblastoma Multiforme

Parsons, D. W., Jones, S., Zhang, X., Lin, J. C.-H., Leary, R. J., Angenendt, P., Mankoo, P., Carter, H., Siu, I.-M., Gallia, G. L., et al. (2008) · Science · doi:10.1126/science.1164382 · Cited by 5,857

Cancer-associated IDH1 mutations produce 2-hydroxyglutarate

Dang, L., White, D. W., Gross, S., Bennett, B. D., Bittinger, M. A., Driggers, E. M., Fantin, V. R., Jang, H. G., Jin, S., Keenan, M. C., et al. (2009) · Nature · doi:10.1038/nature08617 · Cited by 4,154

Oncometabolite 2-Hydroxyglutarate Is a Competitive Inhibitor of α-Ketoglutarate-Dependent Dioxygenases

Xu, W., Yang, H., Liu, Y., Yang, Y., Wang, P., Kim, S.-H., Ito, S., Yang, C., Wang, P., Xiao, M.-T., et al. (2011) · Cancer Cell · doi:10.1016/j.ccr.2010.12.014 · Cited by 2,875

The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate

Ward, P. S., Patel, J., Wise, D. R., Abdel-Wahab, O., Bennett, B. D., Coller, H. A., Cross, J. R., Fantin, V. R., Hedvat, C. V., Perl, A. E., et al. (2010) · Cancer Cell · doi:10.1016/j.ccr.2010.01.020 · Cited by 2,020

Glioma-Derived Mutations in IDH1 Dominantly Inhibit IDH1 Catalytic Activity and Induce HIF-1α

Zhao, S., Lin, Y., Xu, W., Jiang, W., Zha, Z., Wang, P., Yu, W., Li, Z., Gong, L., Peng, Y., et al. (2009) · Science · doi:10.1126/science.1170944 · Cited by 1,119

Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations

Gross, S., Cairns, R. A., Minden, M. D., Driggers, E. M., Bittinger, M. A., Jang, H. G., Sasaki, M., Jin, S., Schenkein, D. P., Su, S. M., et al. (2010) · Journal of Experimental Medicine · doi:10.1084/jem.20092506 · Cited by 736

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Olsen, R. K. J., Olpin, S. E., Andresen, B. S., Miedzybrodzka, Z., Pourfarzam, M., Merinero, B., Frerman, F. E., Beresford, M. W., Dean, J., Cornelius, N., et al. (2007) · Brain · doi:10.1093/brain/awm135 · Cited by 319

L‐2‐Hydroxyglutaric aciduria: an inborn error of metabolism?

Duran, M., Kamerling, J. P., Bakker, H. D., van Gennip, A. H., & Wadman, S. K. (1980) · Journal of Inherited Metabolic Disease · doi:10.1007/bf02312543 · Cited by 226

Inherited disorders of GABA metabolism

Jakobs, C., Jaeken, J., & Gibson, K. M. (1993) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00711902 · Cited by 225

IDH2 Mutations in Patients with d -2-Hydroxyglutaric Aciduria

Kranendijk, M., Struys, E. A., van Schaftingen, E., Gibson, K. M., Kanhai, W. A., van der Knaap, M. S., Amiel, J., Buist, N. R., Das, A. M., de Klerk, J. B., et al. (2010) · Science · doi:10.1126/science.1192632 · Cited by 195

Genetic dissection of leukemia-associated IDH1 and IDH2 mutants and D-2-hydroxyglutarate in Drosophila

Reitman, Z. J., Sinenko, S. A., Spana, E. P., & Yan, H. (2014) · Blood · doi:10.1182/blood-2014-05-577940 · Cited by 29

Enigmas of IDH mutations in hematology/oncology

Heuser, M., Cruz, M. M. A., Goparaju, R., & Chaturvedi, A. (2015) · Experimental Hematology · doi:10.1016/j.exphem.2015.05.005 · Cited by 28

IDH1 and IDH2 have critical roles in 2-hydroxyglutarate production in D-2-hydroxyglutarate dehydrogenase depleted cells

Matsunaga, H., Futakuchi-Tsuchida, A., Takahashi, M., ISHIKAWA, T., Tsuji, M., & Ando, O. (2012) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2012.06.002 · Cited by 28

Oncometabolite 2-hydroxyglutarate regulates anti-tumor immunity

Cai, M., Zhao, J., Ding, Q., & Wei, J. (2024) · Heliyon · doi:10.1016/j.heliyon.2024.e24454 · Cited by 30

A Drosophila model of combined D-2- and L-2-hydroxyglutaric aciduria reveals a mechanism linking mitochondrial citrate export with oncometabolite accumulation

Li, H., Hurlburt, A. J., & Tennessen, J. M. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.035337 · Cited by 27

Quantification of 2-Hydroxyglutarate Enantiomers by Liquid Chromatography-mass Spectrometry

Oldham, W. M., & Loscalzo, J. (2016) · BIO-PROTOCOL · doi:10.21769/bioprotoc.1908 · Cited by 26

Biochemical characterization of human D-2-hydroxyglutarate dehydrogenase and two disease related variants reveals the molecular cause of D-2-hydroxyglutaric aciduria

Toplak, M., Brunner, J., Schmidt, J., & Macheroux, P. (2019) · Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics · doi:10.1016/j.bbapap.2019.07.008 · Cited by 25

IDH1/2wildtype gliomas grade 2 and 3 with molecular glioblastoma-like profile have a distinct course of epilepsy compared toIDH1/2wildtype glioblastomas

van Opijnen, M. P., Tesileanu, C. M. S., Dirven, L., van der Meer, P. B., Wijnenga, M. M. J., Vincent, A. J. P. E., Broekman, M. L. D., Dubbink, H. J., Kros, J. M., van Duinen, S. G., et al. (2022) · Neuro-Oncology · doi:10.1093/neuonc/noac197 · Cited by 24

Enzyme redesign guided by cancer-derived IDH1 mutations

Reitman, Z. J., Choi, B. D., Spasojević, I., Bigner, D. D., Sampson, J. H., & Yan, H. (2012) · Nature Chemical Biology · doi:10.1038/nchembio.1065 · Cited by 24

Current biomarker-associated procedures of cancer modeling-a reference in the context of IDH1 mutant glioma

Mehrjardi, N. Z., Hänggi, D., & Kahlert, U. D. (2020) · Cell Death and Disease · doi:10.1038/s41419-020-03196-0 · Cited by 23

Enantioselectivity Effects in Clinical Metabolomics and Lipidomics

Oliveira, R. V., Simionato, A. V. C., & Cass, Q. B. (2021) · Molecules · doi:10.3390/molecules26175231 · Cited by 23

d-2-Hydroxyglutarate dehydrogenase plays a dual role in l-serine biosynthesis and d-malate utilization in the bacterium Pseudomonas stutzeri

Guo, X., Zhang, M., Cao, M., Zhang, W., Kang, Z., Xu, P., Ma, C., & Gao, C. (2018) · Journal of Biological Chemistry · doi:10.1074/jbc.ra118.003897 · Cited by 22

Disruption of mitochondrial functions and oxidative stress contribute to neurologic dysfunction in organic acidurias

Wajner, M., Vargas, C. R., & Amaral, A. U. (2020) · Archives of Biochemistry and Biophysics · doi:10.1016/j.abb.2020.108646 · Cited by 24

Aging and memory are altered by genetically manipulating lactate dehydrogenase in the neurons or glia of flies

Frame, A. K., Robinson, J. W., Mahmoudzadeh, N. H., Tennessen, J. M., Simon, A. F., & Cumming, R. C. (2023) · Aging · doi:10.18632/aging.204565 · Cited by 22

Chiral separation of disease biomarkers with 2‐hydroxycarboxylic acid structure

Calderón, C., Santi, C., & Lämmerhofer, M. (2017) · Journal of Separation Science · doi:10.1002/jssc.201701243 · Cited by 22

Mitochondrial carriers in inflammation induced by bacterial endotoxin and cytokines

Iacobazzi, V., Infantino, V., Castegna, A., Menga, A., Palmieri, E. M., Convertini, P., & Palmieri, F. (2016) · Biological Chemistry · doi:10.1515/hsz-2016-0260 · Cited by 21

Measurement of 2-hydroxyglutarate enantiomers in serum by chiral gas chromatography-tandem mass spectrometry and its application as a biomarker for IDH mutant gliomas

Strain, S. K., Groves, M. D., Olino, K. L., & Emmett, M. R. (2019) · Clinical mass spectrometry · doi:10.1016/j.clinms.2019.11.002 · Cited by 21

Isocitrate dehydrogenase 2 mutations correlate with leukemic transformation and are predicted by 2-hydroxyglutarate in myelodysplastic syndromes

Lin, P., Luo, Y., Zhu, S., Maggio, D. M., Yang, H., Hu, C., Wang, J., Zhang, H., Ren, Y., Zhou, X., et al. (2018) · Journal of Cancer Research and Clinical Oncology · doi:10.1007/s00432-018-2627-3 · Cited by 20

Metabolite signaling in the heart

Flam, E. L., & Arany, Z. P. (2023) · Nature Cardiovascular Research · doi:10.1038/s44161-023-00270-6 · Cited by 19

The two enantiomers of 2-hydroxyglutarate differentially regulate cytotoxic T cell function

Foskolou, I. P., Cunha, P. P., Sánchez‐López, E., Minogue, E., Nicolet, B. P., Guislain, A., Jorgensen, C., Kostidis, S., Zandhuis, N. D., Barbieri, L., et al. (2023) · Cell Reports · doi:10.1016/j.celrep.2023.113013 · Cited by 19

Enantioseparation of d,l-2-hydroxyglutaric acid by capillary electrophoresis with tandem mass spectrometry—Fast and efficient tool for d- and l-2-hydroxyglutaracidurias diagnosis

Švidrnoch, M., Přibylka, A., Vojtěch Bekárek, B., Ševčı́k, J., Smolka, V., & Maier, V. (2016) · Journal of Chromatography A · doi:10.1016/j.chroma.2016.05.095 · Cited by 20

Interaction between transforming Theileria parasites and their host bovine leukocytes

Tajeri, S., Haidar, M., Sakura, T., & Langsley, G. (2021) · Molecular Microbiology · doi:10.1111/mmi.14642 · Cited by 19

L-2-hydroxyglutaric aciduria – review of literature and case series

Ahmed, S., Siddiqui, A., DeBerardinis, R. J., Ni, M., Gu, W., Cai, F., Vu, H., & Afroze, B. (2023) · Annals of Medicine and Surgery · doi:10.1097/ms9.0000000000000326 · Cited by 18

L-2-hydroxyglutaric Aciduria in Two Female Yorkshire Terriers

Sánchez‐Masián, D., Artuch, R., Mascort, J., Jakobs, C., Salomons, G. S., Zamora, A., Casado, M., Fernandez, M., Recio, A., & Feliu‐Pascual, A. L. (2012) · Journal of the American Animal Hospital Association · doi:10.5326/jaaha-ms-5967 · Cited by 17

A D-2-hydroxyglutarate dehydrogenase mutant reveals a critical role for ketone body metabolism in Caenorhabditis elegans development

Ponomarova, O., Zhang, H., Li, X., Nanda, S., Leland, T. B., Fox, B. W., Starbard, A. N., Giese, G. E., Schroeder, F. C., Yilmaz, L. S., et al. (2023) · PLoS Biology · doi:10.1371/journal.pbio.3002057 · Cited by 16

Nrf2 sensitizes ferroptosis through L-2-hydroxyglutarate-mediated chromatin modifications in sickle cell disease

Xi, C., Pang, J., Zhi, W., Chang, C., Siddaramappa, U., Shi, H., Horuzsko, A., Pace, B. S., & Zhu, X. (2023) · Blood · doi:10.1182/blood.2022018159 · Cited by 16

Teleological role of L-2-hydroxyglutarate dehydrogenase in the kidney

Brinkley, G. J., Nam, H., Shim, E., Kirkman, R. L., Kundu, A., Karki, S., Heidarian, Y., Tennessen, J. M., Liu, J., Locasale, J. W., et al. (2020) · Disease Models & Mechanisms · doi:10.1242/dmm.045898 · Cited by 16

A small molecule inhibitor of mutant IDH2 rescues cardiomyopathy in a D‐2‐hydroxyglutaric aciduria type II mouse model

Wang, F., Travins, J. M., Lin, Z., Si, Y., Chen, Y., Powe, J., Murray, S., Zhu, D., Artin, E., Größ, S., et al. (2016) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-016-9960-y · Cited by 16

Deciphering the multifaceted roles and clinical implications of 2-hydroxyglutarate in cancer

Hao, J., Huang, Z., Zhang, S., Song, K., Wang, J., Gao, C., Fang, Z., & Zhang, N. (2024) · Pharmacological Research · doi:10.1016/j.phrs.2024.107437 · Cited by 15

Identification of enzymes that have helminth-specific active sites and are required for Rhodoquinone-dependent metabolism as targets for new anthelmintics

Lautens, M., Tan, J. H., Serrat, X., Borrello, S. D., Schertzberg, M. R., & Fraser, A. G. (2021) · PLoS neglected tropical diseases · doi:10.1371/journal.pntd.0009991 · Cited by 18

Cardio-Onco-Metabolism – Metabolic vulnerabilities in cancer and the heart

Karlstaedt, A., & Taegtmeyer, H. (2022) · Journal of Molecular and Cellular Cardiology · doi:10.1016/j.yjmcc.2022.06.008 · Cited by 15

Quantitative multiple fragment monitoring with enhanced in-source fragmentation/annotation mass spectrometry

Bernardo‐Bermejo, S., Xue, J., Hoang, L. T., Billings, E., Webb, B., Honders, M. W., Venneker, S., Heijs, B., Castro‐Puyana, M., Marina, M. L., et al. (2023) · Nature Protocols · doi:10.1038/s41596-023-00803-0 · Cited by 15

Neuronal Death, Glial Reactivity, Microglia Activation, Oxidative Stress and Bioenergetics Impairment Caused by Intracerebroventricular Administration of D-2-hydroxyglutaric Acid to Neonatal Rats

Ribeiro, R. T., Seminotti, B., Zanatta, Â., de Oliveira, F. H., Amaral, A. U., Leipnitz, G., & Wajner, M. (2021) · Neuroscience · doi:10.1016/j.neuroscience.2021.07.024 · Cited by 15

Enasidenib treatment in two individuals with D-2-hydroxyglutaric aciduria carrying a germline IDH2 mutation

Geoerger, B., Schiff, M., Penard‐Lacronique, V., Darín, N., Saad, S.-M., Duchon, C., Lamazière, A., Desmons, A., Pontoizeau, C., Berlanga, P., et al. (2023) · Nature Medicine · doi:10.1038/s41591-023-02382-9 · Cited by 15

Disruption of redox homeostasis and histopathological alterations caused by in vivo intrastriatal administration of D-2-hydroxyglutaric acid to young rats

da Rosa, M. S., Seminotti, B., Amaral, A. U., Parmeggiani, B., de Oliveira, F. H., Leipnitz, G., & Wajner, M. (2014) · Neuroscience · doi:10.1016/j.neuroscience.2014.07.011 · Cited by 14

2‐Hydoxyglutarate: D/Riving Pathology in gLiomaS

Wahl, D. R., & Venneti, S. (2015) · Brain Pathology · doi:10.1111/bpa.12309 · Cited by 14

Kinetic and Bioinformatic Characterization of d -2-Hydroxyglutarate Dehydrogenase from Pseudomonas aeruginosa PAO1

Quaye, J. A., & Gadda, G. (2020) · Biochemistry · doi:10.1021/acs.biochem.0c00832 · Cited by 14

In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology

Muzammal, M., Cerbo, A. D., Almusalami, E. M., Farid, A., Khan, M. A., Ghazanfar, S., Mohaini, M. A., Alsalman, A. J., Alhashem, Y. N., Hawaj, M. A. A., et al. (2022) · Genes · doi:10.3390/genes13040698 · Cited by 14

Structure and biochemical characterization of l-2-hydroxyglutarate dehydrogenase and its role in the pathogenesis of l-2-hydroxyglutaric aciduria

Yang, J., Chen, X., Jin, S., & Ding, J. (2023) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2023.105491 · Cited by 14

Clinicoradiological Spectrum of L-2-Hydroxy Glutaric Aciduria: Typical and Atypical Findings in an Indian Cohort

Muthusamy, K., Sudhakar, S. V., Christudass, C. S., Chandran, M., Thomas, M. M., & Gibikote, S. (2019) · Journal of Clinical Imaging Science · doi:10.25259/jcis-9-3 · Cited by 14

IDH1/2 Mutations in Cancer: Unifying Insights and Unlocking Therapeutic Potential for Chondrosarcoma

Deshmukh, S., Kelly, C. M., & Tinoco, G. (2024) · Targeted Oncology · doi:10.1007/s11523-024-01115-3 · Cited by 15

Protective effects of the PPAR agonist bezafibrate against disruption of redox and energy homeostasis, neuronal death, astroglial reactivity, and neuroinflammation induced in vivo by D-2-hydroxyglutaric acid in rat brain

Ribeiro, R. T., Marcuzzo, M. B., Carvalho, A. V. S., Palavro, R., Castro, E. T., Pinheiro, C. V., Bobermin, L. D., Amaral, A. U., Leipnitz, G., Netto, C. A., et al. (2024) · European Journal of Pharmacology · doi:10.1016/j.ejphar.2024.177186 · Cited by 13

Biochemical Background in Mitochondria Affects 2HG Production by IDH2 and ADHFE1 in Breast Carcinoma

Špačková, J., Gotvaldová, K., Dvořák, A., Urbančoková, A., Pospíšilová, K., Větvička, D., Leguina‐Ruzzi, A., Tesařová, P., Vı́tek, L., Ježek, P., et al. (2021) · Cancers · doi:10.3390/cancers13071709 · Cited by 13

Focused Screening Identifies Different Sensitivities of Human TET Oxygenases to the Oncometabolite 2-Hydroxyglutarate

Belle, R., Saraç, H., Salah, E., Bhushan, B., Szykowska, A., Roper, G., Tumber, A., Kriaučionis, S., Burgess-Brown, N., Schofield, C. J., et al. (2024) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.3c01820 · Cited by 13

Evidence that 2-hydroxyglutarate is not readily metabolized in colorectal carcinoma cells

Gelman, S. J., Mahieu, N. G., Cho, K., Llufrio, E. M., Wencewicz, T. A., & Patti, G. J. (2015) · Cancer & Metabolism · doi:10.1186/s40170-015-0139-z · Cited by 13

In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduria

Anghileri, E., Bertolino, N., Salsano, E., Antelmi, L., Carpinelli, P., Castellotti, B., Zucca, I., Gellera, C., Bisogno, R., Caccia, C., et al. (2016) · Brain Research · doi:10.1016/j.brainres.2016.08.013 · Cited by 13

IDH1 Associated with Neuronal Apoptosis in Adult Rats Brain Following Intracerebral Hemorrhage

Chen, X., Wang, H., Yu, W., Chen, F., Wang, G., Shi, J., & Zhou, C. (2016) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-016-0421-9 · Cited by 13

Impairment of astrocytic glutaminolysis in glutaric aciduria type I

Komatsuzaki, S., Ediga, R. D., Okun, J. G., Kölker, S., & Sauer, S. W. (2017) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-017-0096-5 · Cited by 13

Silencing a Metabolic Oncogene

Kim, J., & DeBerardinis, R. J. (2013) · Science · doi:10.1126/science.1238523 · Cited by 13

Gut Microbial Metabolites and Future Risk of Parkinson's Disease: A Metabolome‐Wide Association Study

Zhao, Y., Lai, Y., Darweesh, S. K. L., Bloem, B. R., Forsgren, L., Hansen, J., Katzke, V. A., Masala, G., Sieri, S., Sacerdote, C., et al. (2024) · Movement Disorders · doi:10.1002/mds.30054 · Cited by 12

L-2-hydroxyglutaric aciduria: A case report

Jovic, N., Kosać, A., & Koprivšek, K. (2014) · Srpski arhiv za celokupno lekarstvo · doi:10.2298/sarh1406337j · Cited by 12

Rotenone Stereospecifically Increases (S)-2-Hydroxyglutarate in SH-SY5Y Neuronal Cells

Worth, A. J., Gillespie, K. P., Mesaros, C., Guo, L., Basu, S. S., Snyder, N. W., & Blair, I. A. (2015) · Chemical Research in Toxicology · doi:10.1021/tx500535c · Cited by 12

Efficacy and safety of IDH inhibitors in IDH-mutated cancers: a systematic review and meta-analysis of 4 randomized controlled trials

Cai, Z., Yang, H., Yu, Z., Su, J., Zhang, J., Ye, Z., Hu, K., Huang, T. H., & Zhou, H. (2024) · World Journal of Surgical Oncology · doi:10.1186/s12957-024-03579-z · Cited by 11

Autophagic signaling promotes systems-wide remodeling in skeletal muscle upon oncometabolic stress by D2-HG

Gao, Y., Kim, K., Vitrac, H., Salazar, R., Gould, B. D., Soedkamp, D., Spivia, W. R., Raedschelders, K., Dinh, A. Q., Guzman, A. G., et al. (2024) · Molecular Metabolism · doi:10.1016/j.molmet.2024.101969 · Cited by 11

Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53

Kasprzyk-Pawelec, A., Tan, M., Rahhal, R., McIntosh, A. T., Fernandez, H. R., Mosaoa, R., Jiang, L., Pearson, G. W., Glasgow, E. F., Vockley, J., et al. (2024) · Cell Death and Differentiation · doi:10.1038/s41418-024-01428-w · Cited by 15

White matter abnormalities in an adult patient with l-2-hydroxyglutaric aciduria

Yamamoto, T., Yoshioka, S., Tsurusaki, Y., Shimada, S., Shimojima, K. Y., Shigematsu, Y., Takeuchi, Y., & Matsumoto, N. (2015) · Brain and Development · doi:10.1016/j.braindev.2015.04.012 · Cited by 11

Tricarboxylic Acid Cycle Relationships with Non-Metabolic Processes: A Short Story with DNA Repair and Its Consequences on Cancer Therapy Resistance

Álvarez-González, E., & Sierra, L. M. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25169054 · Cited by 10

Metabolic functions of misunderstood D-2-hydroxyglutarate

Liu, Y., Kang, Z., Zhang, W., Ma, C., Xu, P., & Gao, C. (2024) · The Innovation Life · doi:10.59717/j.xinn-life.2024.100101 · Cited by 10

A Förster resonance energy transfer-based d-2-hydroxyglutarate biosensor

Xiao, D., Xu, X., Gao, K., Wang, M., Zhang, W., Lü, C., Wang, X., Wang, Q., Xu, P., Ma, C., et al. (2023) · Sensors and Actuators B Chemical · doi:10.1016/j.snb.2023.133681 · Cited by 10

Beyond Isocitrate Dehydrogenase Mutations: Emerging Mechanisms for the Accumulation of the Oncometabolite 2-Hydroxyglutarate

Peng, S., Chen, H., Chen, L., Yang, G., Liu, J., Cheng, X., & Tang, Y. (2022) · Chemical Research in Toxicology · doi:10.1021/acs.chemrestox.1c00254 · Cited by 10

D‐2‐hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants

Pop, A., Struys, E. A., Jansen, E. E. W., Fernandez, M. R., Kanhai, W. A., van Dooren, S. J. M., Öztürk, Ş., van Oostendorp, J. Y., Lennertz, P., Kranendijk, M., et al. (2019) · Human Mutation · doi:10.1002/humu.23751 · Cited by 10

Cardiometabolic disease and cardio-oncology: Insights from iPSC models and tissue engineering

Kojic, A., Moslehi, J. J., Ky, B., & Wu, J. C. (2025) · Cell Reports Medicine · doi:10.1016/j.xcrm.2025.102261 · Cited by 10

Urine Organic Acids as Metabolic Indicators for Global Developmental Delay/Intellectual Disability in Chinese Children

Chen, B., Zhan, Y., Kessi, M., Chen, S., Xiong, J., Deng, X., Yang, L., Peng, J., Yin, F., & He, F. P. (2021) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2021.792319 · Cited by 9

l-2-Hydroxyglutaric Acid Administration to Neonatal Rats Elicits Marked Neurochemical Alterations and Long-Term Neurobehavioral Disabilities Mediated by Oxidative Stress

Ribeiro, R. T., Carvalho, A. V. S., Palavro, R., Durán‐Carabali, L. E., Zemniaçak, Â. B., Amaral, A. U., Netto, C. A., & Wajner, M. (2022) · Neurotoxicity Research · doi:10.1007/s12640-022-00625-0 · Cited by 9

Findings on serial MRI in a childhood case of L2-hydroxyglutaric aciduria

Kular, S. (2019) · Radiology Case Reports · doi:10.1016/j.radcr.2019.09.035 · Cited by 9

L-2-hidroksiglutarik asidüri hastalarında klinik, nöroradyolojik ve genetik bulguların değerlendirilmesi

Zübarioğlu, T. (2020) · Türk Pediatri Arşivi · doi:10.14744/turkpediatriars.2019.06926 · Cited by 9

Chromatographic methods coupled to mass spectrometry for the determination of oncometabolites in biological samples-A review

Asensio, A. F., Álvarez-González, E., Rodríguez, A., Sierra, L. M., & Blanco‐González, E. (2021) · Analytica Chimica Acta · doi:10.1016/j.aca.2021.338646 · Cited by 10

Manifestation of recessive combined D‐2‐, L‐2‐hydroxyglutaric aciduria in combination with 22q11.2 deletion syndrome

Eguchi, M., Ozaki, E., Yamauchi, T., Ohta, M., Higaki, T., Masuda, K., Imoto, I., Ishii, E., & Eguchi‐Ishimae, M. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38578 · Cited by 9

Two novel L2HGDH mutations identified in a rare Chinese family with L-2-hydroxyglutaric aciduria

Peng, W., Ma, X., Yang, X. F., Zhang, W., Yan, L., Wang, Y., Liu, X., Wang, Y., & Feng, Z. (2018) · BMC Medical Genetics · doi:10.1186/s12881-018-0675-9 · Cited by 9

2-Hydroxyglutarate modulates histone methylation at specific loci and alters gene expression via Rph1 inhibition

Gavriil, M., Proietto, M., Paczia, N., Ginolhac, A., Halder, R., Valceschini, E., Sauter, T., Linster, C. L., & Sinkkonen, L. (2023) · Life Science Alliance · doi:10.26508/lsa.202302333 · Cited by 8

Immunometabolites and cancer: the role of 2-hydroxyglutarate, succinate, fumarate and itaconate in tumour development and anti-tumour immunity

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