IDH2 Mutations in Patients with d -2-Hydroxyglutaric Aciduria

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

IDH1 and IDH2 Mutations in Gliomas

Yan, H., Parsons, D. W., Jin, G., McLendon, R., Rasheed, B. A., Yuan, W., Kos, I., Batinic-Haberle, I., Jones, S., Riggins, G. J., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0808710 · Cited by 5,847

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

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

Mutations in the d-2-Hydroxyglutarate Dehydrogenase Gene Cause d-2-Hydroxyglutaric Aciduria

Struys, E. A., Salomons, G. S., Achouri, Y., Van Schaftingen, E., Grosso, S., Craigen, W. J., Verhoeven, N. M., & Jakobs, C. (2005) · The American Journal of Human Genetics · doi:10.1086/427890 · Cited by 172

Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review

Aghili, M., Zahedi, F., & Rafiee, E. (2009) · Journal of Neuro-Oncology · doi:10.1007/s11060-008-9706-2 · Cited by 159

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study

Steenweg, M. E., Jakobs, C., Errami, A., van Dooren, S. J. M., Bartolomé, M. T. A., Aerssens, P., Augoustides‐Savvopoulou, P., Barić, I., Baumann, M., Bonafé, L., et al. (2010) · Human Mutation · doi:10.1002/humu.21197 · Cited by 128

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

Kranendijk, M., Struys, E. A., Gibson, K. M., Wickenhagen, W. V., Abdenur, J. E., Buechner, J., Christensen, E., de Kremer, R. D., Errami, A., Gissen, P., et al. (2009) · Human Mutation · doi:10.1002/humu.21186 · Cited by 74

Investigations by mass isotopomer analysis of the formation of D ‐2‐hydroxyglutarate by cultured lymphoblasts from two patients with D ‐2‐hydroxyglutaric aciduria

Struys, E. A., Verhoeven‐Duif, N. M., Brunengraber, H., & Jakobs, C. (2003) · FEBS Letters · doi:10.1016/s0014-5793(03)01459-5 · Cited by 40

Isocitrate dehydrogenase 1 mutations in melanoma frequently co‐occur with NRAS mutations

Linos, K. D., & Tafe, L. J. (2018) · Histopathology · doi:10.1111/his.13707 · Cited by 30

Emerging cellular themes in leukodystrophies

Nowacki, J. C., Fields, A. M., & Fu, M. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.902261 · Cited by 29

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

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

Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function

Findlay, A. S., Carter, R. N., Starbuck, B., McKie, L., Nováková, K., Budd, P. S., Keighren, M., Marsh, J. A., Cross, S. H., Simon, M. M., et al. (2018) · Disease Models & Mechanisms · doi:10.1242/dmm.036426 · Cited by 28

IDH1/2 mutations in acute myeloid leukemia

Byun, J. M., Yoo, S.-J., Kim, H. J., Ahn, J., Koh, Y., Jang, J. H., & Yoon, S. (2022) · Blood Research · doi:10.5045/br.2021.2021152 · Cited by 33

Targeting the Metabolic Paradigms in Cancer and Diabetes

Bosso, M., Haddad, D., Madhoun, A. S. A., & Al‐Mulla, F. (2024) · Biomedicines · doi:10.3390/biomedicines12010211 · Cited by 26

Malignant brain tumors in patients with glutaric aciduria type I

Russi, A. S., Donoghue, S. E., Boneh, A., Manara, R., Burlina, A., & Burlina, A. P. (2018) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2018.08.006 · Cited by 25

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

Defects in amino acid catabolism and the urea cycle

Hoffmann, G. F., & Kölker, S. (2013) · Handbook of clinical neurology · doi:10.1016/b978-0-444-59565-2.00046-0 · Cited by 25

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

Biallelic variants in OGDH encoding oxoglutarate dehydrogenase lead to a neurodevelopmental disorder characterized by global developmental delay, movement disorder, and metabolic abnormalities

Whittle, E. F., Chilian, M., Karimiani, E. G., Progri, H., Buhaş, D., Köse, M., Ganetzky, R. D., Toosi, M. B., Torbati, P. N., Badv, R. S., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.11.001 · Cited by 23

The role of mutation of metabolism-related genes in genomic hypermethylation

Waterfall, J. J., Killian, J. K., & Meltzer, P. S. (2014) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2014.08.003 · Cited by 23

Nuclear translocation of mitochondrial dehydrogenases as an adaptive cardioprotective mechanism

Srivastava, S., Gajwani, P., Jousma, J., Miyamoto, H., Kwon, Y., Jana, A., Tóth, P. T., Yan, G., Ong, S., & Rehman, J. (2023) · Nature Communications · doi:10.1038/s41467-023-40084-5 · Cited by 22

Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism

Hoffmann, G. F., & Kölker, S. (2016) · Springer eBooks · doi:10.1007/978-3-662-49771-5_22 · Cited by 22

D-2-hydroxyglutarate dehydrogenase governs adult neural stem cell activation and promotes histone acetylation via ATP-citrate lyase

Liu, Y., Wang, M., Guo, Y., Wang, L., & Guo, W. (2023) · Cell Reports · doi:10.1016/j.celrep.2023.112067 · Cited by 21

Persistence of mutant isocitrate dehydrogenase in patients with acute myeloid leukemia in remission

Chou, W.-C., Peng, K.-Y., Lei, W.-C., Ko, B., Tsay, W., Kuo, C., & Tien, H. (2011) · Leukemia · doi:10.1038/leu.2011.215 · Cited by 20

Monogenic Disorders of ROS Production and the Primary Anti-Oxidative Defense

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Novel cases of D-2-hydroxyglutaric aciduria with IDH1 or IDH2 mosaic mutations identified by amplicon deep sequencing

Nota, B., Hamilton, E. M. C., Sie, D., Öztürk, Ş., van Dooren, S. J. M., Ojeda, M. R. F., Jakobs, C., Christensen, E., Kirk, E. P., Sykut‐Cegielska, J., et al. (2013) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-101961 · Cited by 19

Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder

Kember, R. L., Georgi, B., Wilson, J., Stambolian, D., Paul, S. M., & Bućan, M. (2015) · BMC Genetics · doi:10.1186/s12863-015-0184-1 · Cited by 18

A lymphoblast model for IDH2 gain-of-function activity in d-2-hydroxyglutaric aciduria type II: Novel avenues for biochemical and therapeutic studies

Kranendijk, M., Salomons, G. S., Gibson, K. M., SCHAFTINGEN, E. V., Jakobs, C., & Struys, E. A. (2011) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/j.bbadis.2011.08.006 · Cited by 17

The secrets of the bone marrow niche: Metabolic priming for AML

Yusuf, R. Z., Wang, Y., & Scadden, D. T. (2012) · Nature Medicine · doi:10.1038/nm.2831 · Cited by 18

Role of isocitrate dehydrogenase in glioma

Alexander, B. M., & Mehta, M. P. (2011) · Expert Review of Neurotherapeutics · doi:10.1586/ern.11.134 · 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

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

HSF1: a mediator in metabolic alteration of hepatocellular carcinoma cells in cross-talking with tumor-associated macrophages.

Liu, H. T., Huang, D. A., Li, M. M., Liu, H. D., & Guo, K. (2019) · Europe PMC (PubMed Central) · 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

The Enzymology of 2-Hydroxyglutarate, 2-Hydroxyglutaramate and 2-Hydroxysuccinamate and Their Relationship to Oncometabolites

Hariharan, V., Denton, T. T., Paraszcszak, S., McEvoy, K., Jeitner, T. M., Krasnikov, B. F., & Cooper, A. J. L. (2017) · Biology · doi:10.3390/biology6020024 · Cited by 15

Bridging Cancer Biology with the Clinic: Comprehending and Exploiting IDH Gene Mutations in Gliomas

Romanidou, O., Kotoula, V., & Fountzilas, G. (2018) · Cancer Genomics & Proteomics · doi:10.21873/cgp.20101 · Cited by 15

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

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

Mutations with epigenetic effects in myeloproliferative neoplasms and recent progress in treatment: Proceedings from the 5th International Post-ASH Symposium

Tefferi, A., Abdel-Wahab, O. I., Cervantes, F., Crispino, J. D., Finazzi, G., Girodon, F., Gisslinger, H., Gotlib, J. R., Kiladjian, J., Levine, R. L., et al. (2011) · Blood Cancer Journal · doi:10.1038/bcj.2011.4 · Cited by 16

2‐Hydoxyglutarate: D/Riving Pathology in gLiomaS

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

Degradation of D-2-hydroxyglutarate in the presence of isocitrate dehydrogenase mutations

Berger, R. S., Ellmann, L., Reinders, J., Kreutz, M. P., Stempfl, T., Oefner, P. J., & Dettmer, K. (2019) · Scientific Reports · doi:10.1038/s41598-019-43891-3 · Cited by 14

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

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

The Distribution and Significance of IDH Mutations in Gliomas

Mellai, M., Caldera, V., Annovazzi, L., & Schiffer, D. (2013) · InTech eBooks · doi:10.5772/52357 · Cited by 14

Something Old and Something New About Molecular Diagnostics in Gliomas

Horbinski, C. (2012) · Surgical pathology clinics · doi:10.1016/j.path.2012.09.001 · Cited by 13

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

Isocitrate dehydrogenase mutations: new opportunities for translational research

Keum, Y., & Choi, B. Y. (2015) · BMB Reports · doi:10.5483/bmbrep.2015.48.5.021 · Cited by 11

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

Determination ofIDH1, IDH2, MGMT, TERTandATRXGene Mutations in Glial Tumors

Yaltırık, C. K., Yılmaz, S. G., Özdoğan, S., Bilgin, E. Y., Barut, Z., Türe, U., & İşbir, T. (2022) · In Vivo · doi:10.21873/invivo.12881 · Cited by 10

Measurement of Oncometabolites d-2-Hydroxyglutaric Acid and l-2-Hydroxyglutaric Acid

Jones, P. M., Boriack, R. L., Struys, E. A., & Rakheja, D. (2017) · Methods in molecular biology · doi:10.1007/978-1-4939-7142-8_14 · 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

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

Beyond the Oncogene Revolution: Four New Ways to Combat CancerPreprint

Berger, T., Saunders, M. E., & Mak, T. W. (2016) · Cold Spring Harbor Symposia on Quantitative Biology · doi:10.1101/sqb.2016.81.031161 · Cited by 8

Co-morbidity of Sanfilippo Syndrome type C and d-2-hydroxyglutaric aciduria

Pervaiz, M. A., Patterson, M. C., Struys, E. A., Salomons, G. S., Jakobs, C., Oglesbee, D., & Kirmani, S. (2011) · Journal of Neurology · doi:10.1007/s00415-011-5977-1 · Cited by 7

Germline mutations among Polish patients with acute myeloid leukemia

Bąk, A., Skonieczka, K., Jaśkowiec, A., Junkiert-Czarnecka, A., Heise, M., Pilarska-Deltow, M., Potoczek, S., Czyżewska, M., & Haus, O. (2021) · Hereditary Cancer in Clinical Practice · doi:10.1186/s13053-021-00200-2 · Cited by 6

Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism

Kölker, S., & Hoffmann, G. F. (2022) · Springer eBooks · doi:10.1007/978-3-662-63123-2_22 · Cited by 6

Metabolism and therapeutic response in acute myeloid leukemia with IDH1/2 mutations

Gabellier, L., Bosetta, E., Heiblig, M., & Sarry, J. (2025) · Trends in cancer · doi:10.1016/j.trecan.2025.01.011 · Cited by 6

IDH1 mutated acute myeloid leukemia in a child with metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria

Srinivasan, A., Zhou, Y., Scordino, T., Prabhu, S., Wierenga, A. M., Simon, G. A., Wierenga, K. J., Thompson, J., Shah, R. K., & Sinha, A. A. (2020) · Pediatric Hematology and Oncology · doi:10.1080/08880018.2020.1737284 · Cited by 4

An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid

Blackburn, P. R., Carter, J. M., Oglesbee, D., Westendorf, J. J., Neff, B. A., Stichel, D., Tsen, D. W., Gavrilova, R. H., Wesseling, P., von Deimling, A., et al. (2020) · Human Genetics and Genomics Advances · doi:10.1016/j.xhgg.2020.100006 · Cited by 5

Organic Acidemias and Disorders of Fatty Acid Oxidation

Vockley, J. (2021) · Elsevier eBooks · doi:10.1016/b978-0-12-812535-9.00008-x · Cited by 5

Cerebral Organic Acid Disorders and Other Disorders of Lysine Catabolism

Hoffmann, G. F., & Kölker, S. (2011) · Springer eBooks · doi:10.1007/978-3-642-15720-2_23 · Cited by 5

Mitochondrial Processes in Targeted Cancer Therapy

Krejčíř, R., Valík, D., & Vojtěšek, B. (2018) · Klinicka onkologie · doi:10.14735/amko20182s14 · Cited by 4

Fighting Fire with Fire in Cancer

Berger, T., Saunders, M. E., & Mak, T. W. (2015) · Springer eBooks · doi:10.1007/978-4-431-55651-0_3 · Cited by 4

Disruption of mitochondrial bioenergetics, calcium retention capacity and cell viability caused by D-2-hydroxyglutaric acid in the heart

Ribeiro, R. T., Roginski, A. C., Marschner, R. A., Wajner, S. M., Castilho, R. F., Amaral, A. U., & Wajner, M. (2022) · Biochimie · doi:10.1016/j.biochi.2022.11.004 · Cited by 4

Metabolic Syndromes and Malignant Transformation: Where the Twain Shall Meet

Bhagwat, N., & Levine, R. L. (2010) · Science Translational Medicine · doi:10.1126/scitranslmed.3001669 · Cited by 4

Autophagic signaling promotes systems-wide remodeling in skeletal muscle upon oncometabolic stressPreprint

Karlstaedt, A., Vitrac, H., Salazar, R., Gould, B. D., Soedkamp, D., Spivia, W. R., Raedschelders, K., Dinh, A. Q., Guzman, A. G., Tan, L., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.10.13.338202 · Cited by 4

Metabolic basis of cardiac dysfunction in cancer patients

Figueiredo, J. C., Bhowmick, N. A., & Karlstaedt, A. (2024) · Current Opinion in Cardiology · doi:10.1097/hco.0000000000001118 · Cited by 3

Metabolic Pathways of Eukaryotes and Connection to Cell Mechanics

Mierke, C. T. (2020) · Biological and medical physics, biomedical engineering · doi:10.1007/978-3-030-58532-7_17 · Cited by 2

The Role of Isocitrate Dehydrogenase Mutations in Glioma Brain Tumors

Chang, C.-M., Xu, K., & Hui-Kuo, G. (2011) · InTech eBooks · doi:10.5772/23238 · Cited by 3

HOT mutation screening in human glioblastomas

Krell, D., Mulholland, P. J., Stebbing, J., Tomlinson, I. P. M., & Bardella, C. (2015) · Future Science OA · doi:10.4155/fso.15.20 · Cited by 2

Organoazidurien

Kölker, S., & Hoffmann, G. F. (2020) · Springer Reference Medizin · doi:10.1007/978-3-662-60300-0_72 · Cited by 2

Germline Abnormalities in DNA Methylation and Histone Modification and Associated Cancer Risk

Fernandez, J. A., & Patnaik, M. M. (2022) · Current Hematologic Malignancy Reports · doi:10.1007/s11899-022-00665-5 · Cited by 2

Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycle

Brivet, M., Gaignard, P., & Schiff, M. (2022) · Springer eBooks · doi:10.1007/978-3-662-63123-2_11 · Cited by 2

Organic Acidemias and Disorders of Fatty Acid Oxidation

Vockley, J. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00102-6 · Cited by 2

Cerebral Organic Acidurias

Kölker, S., Struys, E. A., van der Knaap, M. S., & Jakobs, C. (2013) · Springer eBooks · doi:10.1007/978-3-642-40337-8_8 · Cited by 2

Metabolic changes associated with live transport stress of Haliotis rubra abalone

Thao, N. V., McAllister, J., Alfaro, A. C., Ngo, N. T., & MUNDY, C. N. (2025) · Comparative Biochemistry and Physiology Part A Molecular & Integrative Physiology · doi:10.1016/j.cbpa.2025.111883 · Cited by 1

Development of D2HG biosensors inspired by the molecular mechanism of D2HG regulation of DhdR

Wang, B., Luo, S., & Sun, P. (2025) · Cell chemical biology · doi:10.1016/j.chembiol.2025.10.004 · Cited by 1

Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy

de Vondel, L. V., Lee, G. S., Winter, J. D., Matsuzaki, S., Sandoval, A., Ramírez, J. F., Monticelli, A., Lee, S., Horváth, R., Bleecker, J. D., et al. (2026) · JIMD Reports · doi:10.1002/jmd2.70103 · Cited by 1

Krankheiten und Störungen des Eiweißstoffwechsel

Häberle, J., Kölker, S., & Hoffmann, G. F. (2014) · Springer eBooks · doi:10.1007/978-3-642-41866-2_53 · Cited by 1

Subcortical DNET in a Patient With an Enzymatic Deficiency: A Rare Case and Review of the Literature

Infinger, L. K., Karia, S. R., Kinsman, S. L., Kosnik, E. J., Welsh, C. T., Roberts, D. R., & Bredlau, A. (2016) · Journal of Pediatric Hematology/Oncology · doi:10.1097/mph.0000000000000596 · Cited by 1

Child with D-2-Hydroxyglutaric Aciduria Type II

Srinivasaraghavan, R., Sharma, S., Kratz, L. E., Malik, P., Yoganathan, S., Danda, S., & Oommen, S. P. (2021) · Annals of Indian Academy of Neurology · doi:10.4103/aian.aian_231_20 · Cited by 1

Cerebral Organic Acidurias

Kölker, S. (2022) · Springer eBooks · doi:10.1007/978-3-030-67727-5_69 · Cited by 1

Enasidenib‐induced hepatitis in an individual with Type II D2‐hydroxyglutaric aciduria

Gold, J. I., Stefanatos, A. K., Fraser, J. L., Vanderver, A. L., & Cuddapah, S. R. (2024) · JIMD Reports · doi:10.1002/jmd2.12421 · Cited by 1

Moyamoya syndrome in a patient with D-2-hydroxyglutaric aciduria type II: a rare association

Kühnl, T., & Januschek, E. (2024) · Child s Nervous System · doi:10.1007/s00381-024-06340-9 · Cited by 1

Targeting Cancer Metabolisms

Liu, A. M., Wang, W., & Luk, J. M. (2013) · Humana Press eBooks · doi:10.1007/978-1-62703-456-2_9

Contribution of Molecular Biology to the Classification of Low-Grade Diffuse Glioma

Ohgaki, H. (2013) · Springer eBooks · doi:10.1007/978-1-4471-2213-5_5 · Cited by 1

Acidúrias D-2-hidroxiglutárica e L-2-hidroxiglutárica: uma revisão da literatura

Rodrigues, D. G. B., & Vargas, C. R. (2016) · Clinical & Biomedical Research · doi:10.4322/2357-9730.61060

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