The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
IDH2 Mutations in Patients with d -2-Hydroxyglutaric Aciduria
Abstract
A mutation that changes the specificity of an enzyme in human cancer is also found in an inherited metabolic disorder.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Mutations in the IDH2 gene, a mammalian IDH homolog, causes D-2 hydroxyglutaric aciduria type 2 (D2HGA2) (Kranendijk et al., 2010)”
From SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways (2013) · cites this paper as Kranendijk et al., 2010
In the citing paper
“researchers looked for and successfully found germline IDH2 R140 mutations in D-2HG aciduria”
From Metabolic Reprogramming: A Cancer Hallmark Even Warburg Did Not Anticipate (2012) · cites this paper as Kranendijk et al., 2010
In the citing paper
“IDH2 R140 mutations now account for nearly half of all cases of this devastating disease (Kranendijk et al., 2010)”
From Metabolic Reprogramming: A Cancer Hallmark Even Warburg Did Not Anticipate (2012) · cites this paper as Kranendijk et al., 2010
In the citing paper
“The vast majority of IEMs result from recessively inherited loss-of-function mutations in enzymes and transporters, although several are caused by mutations that either stimulate basal enzymatic activity or evoke altogether new functions (Kranendijk et al., 2010; Stanley et al., 1998).”
From Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us? (2012) · cites this paper as Kranendijk et al., 2010
In the citing paper
“up to half of patients with (D)-2-hydroxyglutaric aciduria contain heterozygous active-site mutations in IDH2 (Kranendijk et al., 2010).”
From Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us? (2012) · cites this paper as Kranendijk et al., 2010
In the citing paper
“Indeed, D-2-HG accumulation in IDH-mutant glioma has been found to inhibit PHD hydroxylase and stabilise HIF-1α126 and HIF-1αstabilisation has been shown to occur in IDH1-mutant brain tissue127.”
From Coupling Krebs cycle metabolites to signalling in immunity and cancer (2018) · cites this paper as [126]
In the citing paper
“the concentrations at which it accumulates under pathogenic conditions suggests HIF-1α stabilisation and impaired collagen biogenesis may contribute to tumorigenicity126-130.”
From Coupling Krebs cycle metabolites to signalling in immunity and cancer (2018) · cites this paper as [126]
Citations
Cites
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
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
Self-citationHydroxyglutaric 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
Self-citationEvidence 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
Self-citationStruys, E. A., Verhoeven‐Duif, N. M., Brunengraber, H., & Jakobs, C. (2003) · FEBS Letters · doi:10.1016/s0014-5793(03)01459-5 · Cited by 40
Self-citation
Flagged first, then by citations
Cited by
Sorted by citations
Metabolic Reprogramming: A Cancer Hallmark Even Warburg Did Not Anticipate
Ward, P. S., & Thompson, C. B. (2012) · Cancer Cell · doi:10.1016/j.ccr.2012.02.014 · Cited by 3,233
The Control of the Metabolic Switch in Cancers by Oncogenes and Tumor Suppressor Genes
Levine, A. J., & Puzio-Kuter, A. M. (2010) · Science · doi:10.1126/science.1193494 · Cited by 1,243
Amary, M. F., Bacsi, K., Maggiani, F., Damato, S., Halai, D., Berisha, F., Pollock, R., O'Donnell, P., Grigoriadis, A., Diss, T., et al. (2011) · The Journal of Pathology · doi:10.1002/path.2913 · Cited by 1,023
SIRT5-mediated lysine desuccinylation impacts diverse metabolic pathways
Park, J., Chen, Y., Tishkoff, D. X., Peng, C., Tan, M., Dai, L., Xie, Z., Zhang, Y., Zwaans, B. M. M., Skinner, M. E., et al. (2013) · Molecular Cell · doi:10.1016/j.molcel.2013.06.001 · Cited by 1,000
Cellular Metabolism and Disease: What Do Metabolic Outliers Teach Us?
DeBerardinis, R. J., & Thompson, C. B. (2012) · Cell · doi:10.1016/j.cell.2012.02.032 · Cited by 858
Metadata
- Authors
- 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., Feigenbaum, A. S., Grange, D. K., Hofstede, F. C., Holme, E., Kirk, E. P., Korman, S. H., Morava, E., Morris, A., Smeitink, J., Sukhai, R. N., Vallance, H., Jakobs, C., & Salomons, G. S.
- Affiliations
- Amsterdam UMC Location Vrije Universiteit Amsterdam (NL)
- Laboratory of Physical Chemistry, de Duve Institute, Universite Catholique de Louvain, xxxx Louvain, Belgium.
- Michigan Technological University (US)
- Department of Child Neurology, VU University Medical Center Amsterdam, xxxx Amsterdam, Netherlands.
- Hôpital Necker-Enfants Malades (FR)
- Oregon Health & Science University (US)
- Medizinische Hochschule Hannover (DE)
- Department Metabolic Diseases, ErasmusMC/Sophia Childrens Hospital, xxxx Rotterdam, Netherlands.
- University of Toronto (CA)
- St. Louis Children's Hospital (US)
- University Medical Center Utrecht (NL)
- Sahlgrenska University Hospital (SE)
- Sydney Children's Hospital (AU)
- Hebrew University of Jerusalem (IL)
- Department of Pediatrics, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, Netherlands.
- National Health Service (GB)
- Radboud University Medical Center (NL)
- Leiden University Medical Center (NL)
- University of British Columbia (CA)
- Corresponding author
- Kranendijk, Martijn
- Jakobs, Cornelis
- ORCID
- Venue
- Science
- Published
- 2010-10-15
- Volume
- 330
- Issue
- 6002
- Pages
- 336-336
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W1993672713
- Cited by
- 195
- References
- 9
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 12 · 2023: 4 · 2022: 16 · 2021: 9 · 2020: 9 · 2019: 17 · 2018: 11 · 2017: 8 · 2016: 13 · 2015: 17 · 2014: 9 · 2013: 19 · 2012: 20
- FWCI
- 12.85
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- Amsterdam UMC (VU Amsterdam) - Institutional Repository (publishedVersion)
- VU Research Portal (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Digital Access to Libraries (submittedVersion)
- Lirias (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Biochemical Acid Research Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Amino Acid Enzymes and Metabolism
- Keywords
- IDH2 mutation, D-2-hydroxyglutaric aciduria, D-2-hydroxyglutarate, isocitrate dehydrogenase, germline mutations, neurometabolic disorders, 2-ketoglutarate, cancer metabolism
- MeSH terms
- Adolescent, Brain Neoplasms, Child, Child, Preschool, Female, Glutarates, Heterozygote, Humans, Infant, Isocitrate Dehydrogenase, Male, Neoplasms, Germ-Line Mutation, Brain Diseases, Metabolic, Inborn, Young Adult
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
