Metabolic dysregulation in monogenic disorders and cancer — finding method in madness
Abstract
Cancer is a prime example of a disease process in which carcinogenic and metabolic changes are intertwined to promote cell survival and growth. One approach to unravel this complex relationship is by studying rare, monogenic disorders caused by mutations in genes encoding metabolic enzymes or regulators. There are hundreds of these diseases, most of which manifest in childhood and are collectively termed 'inborn errors of metabolism' (IEMs). Several IEMs demonstrate the consequences of chronic, systemic loss of a particular metabolic activity that can result in malignancy. In this Opinion article, we present a conceptual categorization of IEMs associated with cancer and discuss how assessment of these rare diseases might inform us about the biological foundations of common types of cancer and opportunities for cancer diagnosis and therapy.
Integrity signals
Registry
Cites
Statistics
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?
Cancers arising from inborn errors of metabolism, with biallelic germline mutations in metabolic enzymes, are restricted to a subset of tissues specific for each enzyme.
“Other cancers arise from inborn errors of metabolism, in which biallelic germline mutations in metabolic enzymes cause a widespread failure of metabolic homeostasis, but cancer is restricted to a subset of tissues specific for each enzyme (12).”
From Metabolic reprogramming and cancer progression (2020) · cites this paper as [12]
In mammals, disrupting TCA cycle function causes inborn errors of metabolism due to inherited mutations in genes encoding metabolic enzymes.
“In mammals, the consequences of disrupting TCA cycle function can be found in a group of disorders known as inborn errors of metabolism, which are caused by inherited mutations in genes encoding metabolic enzymes.”
From Regulation and function of the mammalian tricarboxylic acid cycle (2023) · cites this paper as [9]
Human patients with mutations in TCA cycle-associated genes display neonatal symptoms, developmental defects, and failure to thrive.
“Human patients who present with mutations in TCA cycle–associated genes display neonatal symptoms, developmental defects, and failure to thrive (9, 10).”
From Regulation and function of the mammalian tricarboxylic acid cycle (2023) · cites this paper as [9]
Cites
1 retracted
RETRACTED ARTICLE: Human mitochondrial genome flaws and risk of cancer
Singh, A., Pandey, P., Tewari, M., Pandey, H. P., & Shukla, H. S. (2013) · Mitochondrial DNA · doi:10.3109/19401736.2013.796520 · Cited by 18 · see citing works
RetractedHallmarks of Cancer: The Next Generation
Hanahan, D., & Weinberg, R. A. (2011) · Cell · doi:10.1016/j.cell.2011.02.013 · Cited by 66,590 · see citing works
Warburg, O. (1956) · Science · doi:10.1126/science.123.3191.309 · Cited by 13,425 · see citing works
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 · see citing works
<i>IDH1</i> and <i>IDH2</i> 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 · see citing works
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 · see citing works
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Hamosh, A. (2004) · Nucleic Acids Research · doi:10.1093/nar/gki033 · Cited by 3,443 · see citing works
A SIMPLE PHENYLALANINE METHOD FOR DETECTING PHENYLKETONURIA IN LARGE POPULATIONS OF NEWBORN INFANTS
Guthrie, R. W., & Susi, A. (1963) · PEDIATRICS · doi:10.1542/peds.32.3.338 · Cited by 2,225 · see citing works
Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-α prolyl hydroxylase
Selak, M. A., Armour, S. M., MacKenzie, E. D., Boulahbel, H., Watson, D. G., Mansfield, K. D., Pan, Y., Simon, M. C., Thompson, C. B., & Gottlieb, E. (2005) · Cancer Cell · doi:10.1016/j.ccr.2004.11.022 · Cited by 2,108 · see citing works
PI3K and cancer: lessons, challenges and opportunities
Fruman, D. A., & Rommel, C. (2014) · Nature Reviews Drug Discovery · doi:10.1038/nrd4204 · Cited by 1,716 · see citing works
p53 Regulates Mitochondrial Respiration
Matoba, S., Kang, J.-G., Patino, W. D., Wragg, A., Boehm, M., Gavrilova, O., Hurley, P. J., Bunz, F., & Hwang, P. M. (2006) · Science · doi:10.1126/science.1126863 · Cited by 1,650 · see citing works
The Multiple Leiomyoma Consortium (2002) · Nature Genetics · doi:10.1038/ng849 · Cited by 1,635 · see citing works
Metabolic pathways promoting cancer cell survival and growth
Boroughs, L. K., & DeBerardinis, R. J. (2015) · Nature Cell Biology · doi:10.1038/ncb3124 · Cited by 1,459 · see citing works
Self-citationGenetic Control of Biochemical Reactions in Neurospora
Beadle, G. W., & Tatum, E. L. (1941) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.27.11.499 · Cited by 1,368 · see citing works
Phosphoglycerate dehydrogenase diverts glycolytic flux and contributes to oncogenesis
Locasale, J. W., Grassian, A. R., Melman, T., Lyssiotis, C. A., Mattaini, K. R., Bass, A. J., Heffron, G., Metallo, C. M., Muranen, T., Sharfi, H., et al. (2011) · Nature Genetics · doi:10.1038/ng.890 · Cited by 1,120 · see citing works
Brick by brick: metabolism and tumor cell growth
DeBerardinis, R. J., Sayed, N., Ditsworth, D., & Thompson, C. B. (2008) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2008.02.003 · Cited by 1,018 · see citing works
Self-citationAn association between migraine and cutaneous allodynia
Burstein, R., Yarnitsky, D., Goor‐Aryeh, I., Ransil, B. J., & Bajwa, Z. H. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200005)47:5 · Cited by 1,013 · see citing works
Pollard, P. J., Brière, J. J., Alam, N. A., Barwell, J., Barclay, E., Wortham, N. C., Hunt, T., Mitchell, M., Olpin, S., Moat, S. J., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi227 · Cited by 865 · see citing works
DNA Methylation Signatures Identify Biologically Distinct Subtypes in Acute Myeloid Leukemia
Figueroa, M. E., Lugthart, S., Li, Y., Erpelinck-Verschueren, C. A. J., Deng, X., Christos, P. J., Schifano, E. D., Booth, J. G., van Putten, W., Skrabanek, L. A., et al. (2010) · Cancer Cell · doi:10.1016/j.ccr.2009.11.020 · Cited by 833 · see citing works
Targeted inhibition of mutant IDH2 in leukemia cells induces cellular differentiation
Wang, F., Travins, J., DeLaBarre, B., Penard-Lacronique, V., Schalm, S., Hansen, E., Straley, K., Kernytsky, A., Liu, W., Gliser, C., et al. (2013) · Science · doi:10.1126/science.1234769 · Cited by 804 · see citing works
Flier, J. S., Mueckler, M., Usher, P., & Lodish, H. F. (1987) · Science · doi:10.1126/science.3103217 · Cited by 778 · see citing works
SDH mutations establish a hypermethylator phenotype in paraganglioma
Letouzé, E., Martinelli, C., Loriot, C., Burnichon, N., Abermil, N., Ottolenghi, C., Janin, M., Menara, M., Nguyen, A. T., Benit, P., et al. (2013) · Cancer Cell · doi:10.1016/j.ccr.2013.04.018 · Cited by 776 · see citing works
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders
Hamosh, A. (2002) · Nucleic Acids Research · doi:10.1093/nar/30.1.52 · Cited by 762 · see citing works
Bourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Péquignot, E., Munnich, A., & Rötig, A. (1995) · Nature Genetics · doi:10.1038/ng1095-144 · Cited by 730 · see citing works
Transformation by the (R)-enantiomer of 2-hydroxyglutarate linked to EGLN activation
Koivunen, P., Lee, S., Duncan, C. G., Lopez, G., Lu, G., Ramkissoon, S., Losman, J. A., Joensuu, P., Bergmann, U., Gross, S., et al. (2012) · Nature · doi:10.1038/nature10898 · Cited by 727 · see citing works
BAD and glucokinase reside in a mitochondrial complex that integrates glycolysis and apoptosis
Danial, N. N., Gramm, C. F., Scorrano, L., Zhang, C.-Y., Krauss, S., Ranger, A. M., Robert Datta, S., Greenberg, M. E., Licklider, L. J., Lowell, B. B., et al. (2003) · Nature · doi:10.1038/nature01825 · Cited by 705 · see citing works
Hereditary Cancer Predisposition Syndromes
Garber, J. E., & Offit, K. (2005) · Journal of Clinical Oncology · doi:10.1200/jco.2005.10.042 · Cited by 696 · see citing works
Mitochondrial DNA mutations and human disease
Tuppen, H. A. L., Blakely, E. L., Turnbull, D. M., & Taylor, R. W. (2010) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/j.bbabio.2009.09.005 · Cited by 676 · see citing works
The diverse functions of GAPDH: Views from different subcellular compartments
Tristan, C., Shahani, N., Sedlak, T. W., & Sawa, A. (2011) · Cellular Signalling · doi:10.1016/j.cellsig.2010.08.003 · Cited by 663 · see citing works
SDHA is a tumor suppressor gene causing paraganglioma
Burnichon, N., Brière, J.-J., Libé, R., Vescovo, L., Rivière, J., Tissier, F., Jouanno, E., Jeunemaı̂tre, X., Bénit, P., Tzagoloff, A., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq206 · Cited by 645 · see citing works
Majewski, N., Nogueira, V., Bhaskar, P. T., Coy, P. E., Skeen, J. E., Gottlob, K., Chandel, N. S., Thompson, C. B., Robey, R. B., & Hay, N. (2004) · Molecular Cell · doi:10.1016/j.molcel.2004.11.014 · Cited by 633 · see citing works
Mitochondrial tumour suppressors: a genetic and biochemical update
Gottlieb, E., & Tomlinson, I. P. M. (2005) · Nature reviews. Cancer · doi:10.1038/nrc1737 · Cited by 617 · see citing works
Mitochondrial defects in cancer.
Carew, J. S., & Huang, P. (2002) · Molecular Cancer · doi:10.1186/1476-4598-1-9 · Cited by 586 · see citing works
Adam, J., Hatipoglu, E., O'Flaherty, L., Ternette, N., Sahgal, N., Lockstone, H., Baban, D., Nye, E., Stamp, G. W., Wolhuter, K., et al. (2011) · Cancer Cell · doi:10.1016/j.ccr.2011.09.006 · Cited by 585 · see citing works
What a difference a hydroxyl makes: mutant IDH, (<i>R</i>)-2-hydroxyglutarate, and cancer
Losman, J.-A., & Kaelin, W. G. (2013) · Genes & Development · doi:10.1101/gad.217406.113 · Cited by 570 · see citing works
Fructose-1,6-bisphosphatase opposes renal carcinoma progression
Li, B., Qiu, B., Lee, D. S. M., Walton, Z. E., Ochocki, J. D., Mathew, L. K., Mancuso, A., Gade, T. P. F., Keith, B., Nissim, I., et al. (2014) · Nature · doi:10.1038/nature13557 · Cited by 535 · see citing works
A two-way street: reciprocal regulation of metabolism and signalling
Wellen, K. E., & Thompson, C. B. (2012) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3305 · Cited by 528 · see citing works
mTOR Inhibition Alleviates Mitochondrial Disease in a Mouse Model of Leigh Syndrome
Johnson, S. C., Yanos, M. E., Kayser, E., Quintana, A., Sangesland, M., Castanza, A. S., Uhde, L., Hui, J., Wall, V., Gagnidze, A., et al. (2013) · Science · doi:10.1126/science.1244360 · Cited by 520 · see citing works
Arginine deprivation and argininosuccinate synthetase expression in the treatment of cancer
Delage, B., Fennell, D. A., Nicholson, L., McNeish, I., Lemoine, N. R., Crook, T., & Szlosarek, P. W. (2010) · International Journal of Cancer · doi:10.1002/ijc.25202 · Cited by 441 · see citing works
Guzy, R. D., Sharma, B., Bell, E., Chandel, N. S., & Schumacker, P. T. (2008) · Molecular and Cellular Biology · doi:10.1128/mcb.01338-07 · Cited by 427 · see citing works
Oncometabolites: linking altered metabolism with cancer
Yang, M. H., Soga, T., & Pollard, P. J. (2013) · Journal of Clinical Investigation · doi:10.1172/jci67228 · Cited by 424 · see citing works
Rake, J. P., Visser, G., Labrune, P., Leonard, J. V., Ullrich, K., & Smit, P. (2002) · European Journal of Pediatrics · doi:10.1007/s00431-002-0999-4 · Cited by 423 · see citing works
Fukuhara, N., Tokiguchi, S., Shirakawa, K., & Tsubaki, T. (1980) · Journal of the Neurological Sciences · doi:10.1016/0022-510x(80)90031-3 · Cited by 422 · see citing works
Dipple, K. M., & McCabe, E. R. B. (2000) · The American Journal of Human Genetics · doi:10.1086/302938 · Cited by 418 · see citing works
Ooi, A., Wong, J.-C., Petillo, D., Roossien, D., Perrier-Trudova, V., Whitten, D., Min, B. W. H., Tan, M.-H., Zhang, Z., Yang, X. J., et al. (2011) · Cancer Cell · doi:10.1016/j.ccr.2011.08.024 · Cited by 401 · see citing works
Mutations in the Glucose-6-Phosphatase Gene that Cause Glycogen Storage Disease Type 1a
Lei, K.-J., Shelly, L. L., Pan, C., Sidbury, J. B., & CHOU, J. Y. (1993) · Science · doi:10.1126/science.8211187 · Cited by 377 · see citing works
Woo, S. L. C., Lidsky, A. S., Güttler, F., Chandra, T., & Robson, K. (1983) · Nature · doi:10.1038/306151a0 · Cited by 340 · see citing works
Ricketts, C. J., Forman, J., Rattenberry, E., Bradshaw, N., Lalloo, F. I., Izatt, L., Cole, T. R. P., Armstrong, R., Kumar, V. K. A., Morrison, P. J., et al. (2009) · Human Mutation · doi:10.1002/humu.21136 · Cited by 338 · see citing works
Baysal, B. E., Willett-Brozick, J. E., Lawrence, E. C., Drovdlic, C. M., Savul, S. A., McLeod, D. R., Yee, H. A., Brackmann, D. E., Slattery, W. H., Myers, E. N., et al. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.3.178 · Cited by 336 · see citing works
Alam, N. A. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg148 · Cited by 323 · see citing works
Moonlighting proteins—an update
Jeffery, C. J. (1900) · Molecular BioSystems · doi:10.1039/b900658n · Cited by 318 · see citing works
Incidence and distribution of argininosuccinate synthetase deficiency in human cancers
Dillon, B. J., Prieto, V. G., Curley, S. A., Ensor, M., Holtsberg, F. W., Bomalaski, J. S., & Clark, M. A. (2004) · Cancer · doi:10.1002/cncr.20057 · Cited by 317 · see citing works
Stratakis, C. A., & Carney, J. A. (2009) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.2009.02110.x · Cited by 311 · see citing works
The Proto-oncometabolite Fumarate Binds Glutathione to Amplify ROS-Dependent Signaling
Sullivan, L. B., Martinez-Garcia, E., Nguyen, H., Mullen, A. R., Dufour, E., Sudarshan, S., Licht, J. D., Deberardinis, R. J., & Chandel, N. S. (2013) · Molecular Cell · doi:10.1016/j.molcel.2013.05.003 · Cited by 304 · see citing works
Self-citationProgress in understanding 2‐hydroxyglutaric acidurias
Kranendijk, M., Struys, E. A., Salomons, G. S., Van der Knaap, M. S., & Jakobs, C. (2012) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-012-9462-5 · Cited by 292 · see citing works
Fumarate induces redox-dependent senescence by modifying glutathione metabolism
Zheng, L., Cardaci, S., Jerby, L., MacKenzie, E. D., Sciacovelli, M., Johnson, T. I., Gaude, E., King, A., Leach, J. D. G., Edrada-Ebel, R., et al. (2015) · Nature Communications · doi:10.1038/ncomms7001 · Cited by 281 · see citing works
Gimm, O., Armanios, M. Y., Dziema, H., Neumann, H. P. H., & Eng, C. (2000) · PubMed · Cited by 274 · see citing works
Schwingshackl, L., & Hoffmann, G. (2014) · International Journal of Cancer · doi:10.1002/ijc.28824 · Cited by 269 · see citing works
Litten, J. B., & Tomlinson, G. E. (2008) · The Oncologist · doi:10.1634/theoncologist.2008-0011 · Cited by 223 · see citing works
Alteration of the copy number and deletion of mitochondrial DNA in human hepatocellular carcinoma
Yin, P., Lee, H., Chau, G. Y., Wu, Y., Li, S. H., Lui, W. Y., Wei, Y., Liu, T. Y., & Chi, C. W. (2004) · British Journal of Cancer · doi:10.1038/sj.bjc.6601838 · Cited by 209 · see citing works
How do glycolytic enzymes favour cancer cell proliferation by nonmetabolic functions?
Lincet, H., & Icard, P. (2014) · Oncogene · doi:10.1038/onc.2014.320 · Cited by 207 · see citing works
Use of an automated external de fibrillation pacemaker by ambulance staff
Jaggarao, N. S. V., Heber, M. E., Grainger, R. M., Vincent, R. P., Chamberlain, D. A., & Aronson, A. L. (1982) · The Lancet · Cited by 200 · see citing works
<i>IDH2</i> Mutations in Patients with <scp>d</scp> -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 · see citing works
Pyruvate kinase M2 and cancer: an updated assessment
Iqbal, M. A., Gupta, V., Prakasam, G., Mazurek, S., & Bamezai, R. N. K. (2014) · FEBS Letters · doi:10.1016/j.febslet.2014.04.011 · Cited by 189 · see citing works
Metabolic therapy: A new paradigm for managing malignant brain cancer
Seyfried, T. N., Flores, R. E., Poff, A. M., D’Agostino, D. P., & Mukherjee, P. (2014) · Cancer Letters · doi:10.1016/j.canlet.2014.07.015 · Cited by 182 · see citing works
Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease
CHOU, J. Y., & Mansfield, B. C. (2008) · Human Mutation · doi:10.1002/humu.20772 · Cited by 181 · see citing works
Syed, N., Langer, J., Janczar, K., Singh, P., Nigro, C. L., Lattanzio, L., Coley, H. M., Hatzimichael, E. C., Bomalaski, J. S., Szlosarek, P. W., et al. (2013) · Cell Death and Disease · doi:10.1038/cddis.2012.197 · Cited by 167 · see citing works
Bayley, J., Launonen, V., & Tomlinson, I. P. M. (2008) · BMC Medical Genetics · doi:10.1186/1471-2350-9-20 · Cited by 162 · see citing works
The Incidence of Alkaptonuria: A study in Chemical Individuality
Garrod, A. E. (1996) · Molecular Medicine · doi:10.1007/bf03401625 · Cited by 158 · see citing works
EXCRETION OF PLATINUM INTO BREAST MILK
de Vries, E. G. E., van der Zee, A. G. J., Uges, D. R. A., & Sleijfer, D. T. (1989) · The Lancet · doi:10.1016/s0140-6736(89)91396-2 · Cited by 145 · see citing works
HFE C282Y homozygotes are at increased risk of breast and colorectal cancer†
Osborne, N. J., Gurrin, L. C., Allen, K. J., Constantine, C. C., Delatycki, M. B., McLaren, C. E., Gertig, D. M., Anderson, G. J., Southey, M. C., Olynyk, J. K., et al. (2009) · Hepatology · doi:10.1002/hep.23448 · Cited by 144 · see citing works
Niinaka, Y., Paku, S., Haga, A., Watanabe, H., & Raz, A. (1998) · PubMed · Cited by 142 · see citing works
Nota, B., Struys, E. A., Pop, A., Jansen, E. E., Fernandez Ojeda, M. R., Kanhai, W. A., Kranendijk, M., van Dooren, S. J. M., Bevova, M. R., Sistermans, E. A., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.03.009 · Cited by 138 · see citing works
Ammonia toxicity and its prevention in inherited defects of the urea cycle
Walker, V. (2009) · Diabetes Obesity and Metabolism · doi:10.1111/j.1463-1326.2009.01054.x · Cited by 137 · see citing works
SCREENING FOR PHENYLKETONURIA MUTATIONS BY DNA AMPLIFICATION WITH THE POLYMERASE CHAIN REACTION
DiLella, A. G. (1988) · The Lancet · doi:10.1016/s0140-6736(88)91295-0 · Cited by 134 · see citing works
l ‐2‐Hydroxyglutaric aciduria, a disorder of metabolite repair
SCHAFTINGEN, E. V., Rzem, R., & Veiga‐da‐Cunha, M. (2008) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-008-1042-3 · Cited by 134 · see citing works
Nicholson, L. J., Smith, P. R., Hiller, L., Szlosarek, P. W., Kimberley, C., Sehouli, J., Koensgen, D., Mustea, A., Schmid, P., & Crook, T. (2009) · International Journal of Cancer · doi:10.1002/ijc.24546 · Cited by 133 · see citing works
Yang, Y., Zhang, D., Feng, N., Chen, G., Liu, J., Chen, G., & Zhu, Y. (2014) · Gastroenterology · doi:10.1053/j.gastro.2014.08.005 · Cited by 129 · see citing works
Novel insight into the role of GAPDH playing in tumor
Guo, C., Liu, S., & Sun, M. (2012) · Clinical & Translational Oncology · doi:10.1007/s12094-012-0924-x · Cited by 129 · see citing works
Nelson, R. L., Davis, F. G., Persky, V., & Becker, E. (1995) · Cancer · doi:10.1002/1097-0142(19950901)76:5 · Cited by 126 · see citing works
Inborn errors of metabolism: the flux from Mendelian to complex diseases
Lanpher, B. C., Brunetti‐Pierri, N., & Lee, B. (2006) · Nature Reviews Genetics · doi:10.1038/nrg1880 · Cited by 121 · see citing works
Kobayashi, E., Masuda, M., Nakayama, R. T., Ichikawa, H., Satow, R., Shitashige, M., Honda, K., Yamaguchi, U., Shoji, A., Tochigi, N., et al. (2010) · Molecular Cancer Therapeutics · doi:10.1158/1535-7163.mct-09-0774 · Cited by 120 · see citing works
Hepatocellular Carcinoma in Patients with Acute Intermittent Porphyria
Lithner, F., & Wetterberg, L. (2009) · Acta Medica Scandinavica · doi:10.1111/j.0954-6820.1984.tb05005.x · Cited by 118 · see citing works
L-2-hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition?
Moroni, I., Bugiani, M., D’Incerti, L., Maccagnano, C., Rimoldi, M., Bissola, L., Pollo, B., Finocchiaro, G., & Uziel, G. (2004) · Neurology · doi:10.1212/01.wnl.0000125335.21381.87 · Cited by 118 · see citing works
Holme, E., Larsson, N., Oldfors, A., Tulinius, M., Sahlin, P., & Stenman, G. (1993) · Europe PMC (PubMed Central) · Cited by 106 · see citing works
Tumorigenic transformation of human breast epithelial cells induced by mitochondrial DNA depletion
Kulawiec, M., Safina, A. F., Desouki, M. M., Still, I. H., Matsui, S., Bakin, A. V., & Singh, K. K. (2008) · Cancer Biology & Therapy · doi:10.4161/cbt.7.11.6729 · Cited by 104 · see citing works
Desnick, R. J. (2004) · Expert Opinion on Biological Therapy · doi:10.1517/14712598.4.7.1167 · Cited by 104 · see citing works
Mutagenesis and deoxyribonucleotide pool imbalance
Kunz, B. A. (1988) · Mutation research. Fundamental and molecular mechanisms of mutagenesis · doi:10.1016/0027-5107(88)90076-0 · Cited by 103 · see citing works
Reversed argininosuccinate lyase activity in fumarate hydratase-deficient cancer cells
Zheng, L., MacKenzie, E. D., Karim, S. A., Hedley, A., Blyth, K., Kalna, G., Watson, D. G., Szlosarek, P., Frezza, C., & Gottlieb, E. (2013) · Cancer & Metabolism · doi:10.1186/2049-3002-1-12 · Cited by 103 · see citing works
A role for cytosolic fumarate hydratase in urea cycle metabolism and renal neoplasia
Adam, J., Yang, M., Bauerschmidt, C., Kitagawa, M., O’Flaherty, L., Maheswaran, P., Özkan, G., Sahgal, N., Baban, D., Kato, K., et al. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.04.006 · Cited by 97 · see citing works
The discovery of phenylketonuria
Følling, I. (1994) · Acta Paediatrica · doi:10.1111/j.1651-2227.1994.tb13440.x · Cited by 91 · see citing works
Citrin deficiency, a perplexing global disorder
Dimmock, D., Maranda, B., Dionisi‐Vici, C., Wang, J., Kleppe, S., Fiermonte, G., Bai, R., Hainline, B. E., Hamosh, A., O’Brien, W. E., et al. (2008) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2008.10.007 · Cited by 90 · see citing works
Bartlett, D. C., Lloyd, C., McKiernan, P. J., & Newsome, P. N. (2014) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-014-9683-x · Cited by 69 · see citing works
Inherited Metabolic Rare Disease
Pàmpols, T. (2010) · Advances in experimental medicine and biology · doi:10.1007/978-90-481-9485-8_23 · Cited by 68 · see citing works
SDH5 mutations and familial paraganglioma: somewhere Warburg is smiling
Kaelin, W. G. (2009) · Cancer Cell · doi:10.1016/j.ccr.2009.08.013 · Cited by 67 · see citing works
Muntau, A. C., Röschinger, W., Merkenschlager, A., van der Knaap, M. S., Jakobs, C., Durán, M., Hoffmann, G. F., & Roscher, A. (2000) · Neuropediatrics · doi:10.1055/s-2000-7497 · Cited by 66 · see citing works
The status of online Mendelian inheritance in man (OMIM) medio 1994
Pearson, P. L., Francomano, C. A., Foster, P., Bocchini, C. A., Li, P., & McKusick, V. A. (1994) · Nucleic Acids Research · doi:10.1093/nar/22.17.3470 · Cited by 65 · see citing works
Insights into the Pathogenesis and Treatment of Cancer from Inborn Errors of Metabolism
Erez, A., Shchelochkov, O. A., Plon, S. E., Scaglia, F., & Lee, B. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.03.005 · Cited by 65 · see citing works
Self-citationUpdate on pediatric cancer predisposition syndromes
Schiffman, J. D., Geller, J. I., Mundt, E., Means, A. R., Means, L., & Means, V. (2013) · Pediatric Blood & Cancer · doi:10.1002/pbc.24555 · Cited by 64 · see citing works
Harrison, S. A., & Bacon, B. R. (2005) · Medical Clinics of North America · doi:10.1016/j.mcna.2004.08.005 · Cited by 62 · see citing works
Hepatocellular adenoma and metabolic balance in patients with type Ia glycogen storage disease
Rocco, M. D., Calevo, M. G., Taro’, M., Melis, D., Allegri, A. E. M., & Parenti, G. (2008) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2007.10.134 · Cited by 50 · see citing works
Rakheja, D., Medeiros, L. J., Bevan, S., & Chen, W. (2013) · Frontiers in Oncology · doi:10.3389/fonc.2013.00169 · Cited by 46 · see citing works
Mechanism of action of diet as a carcinogen
Weisburger, J. H. (1979) · Cancer · doi:10.1002/1097-0142(197905)43:5+ · Cited by 44 · see citing works
Nagamani, S. C. S., Shchelochkov, O. A., Mullins, M. A., Carter, S., Lanpher, B. C., Sun, Q., Kleppe, S., Erez, A., Smith, E. O., Marini, J. C., et al. (2012) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2012.09.016 · Cited by 43 · see citing works
Self-citationAn Overview of Newborn Screening
Levy, P. A. (2010) · Journal of Developmental & Behavioral Pediatrics · doi:10.1097/dbp.0b013e3181eedf01 · Cited by 42 · see citing works
Nagasaka, H., Okano, Y., Tsukahara, H., Shigematsu, Y., Momoi, T., Yorifuji, J., Miida, T., Ohura, T., Kobayashi, K., Saheki, T., et al. (2009) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2009.01.009 · Cited by 41 · see citing works
Hepatocellular carcinoma in Wilson's disease: A rare association in childhood
Savaş, N., Canan, O., Özçay, F., Bilezikçi, B., Karakayalı, H., Yılmaz, U., & Haberal, M. A. (2006) · Pediatric Transplantation · doi:10.1111/j.1399-3046.2006.00562.x · Cited by 39 · see citing works
Argininosuccinic aciduria: from a monogenic to a complex disorder
Erez, A. (2013) · Genetics in Medicine · doi:10.1038/gim.2012.166 · Cited by 38 · see citing works
Self-citationKimura, A., Kage, M., Nagata, I., Mushiake, S., Ohura, T., Tazawa, Y., Maisawa, S., Tomomasa, T., Abukawa, D., Okano, Y., et al. (2010) · Hepatology Research · doi:10.1111/j.1872-034x.2009.00594.x · Cited by 38 · see citing works
Risk of hepatocellular carcinoma in liver mitochondrial respiratory chain disorders
Scheers, I., Bachy, V., Stéphenne, X., & Sokal, E. M. (2005) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2004.10.023 · Cited by 38 · see citing works
Hepatocellular Carcinoma in Type 1 Gaucher Disease: A Case Report with Review of the Literature
Xu, R., Mistry, P. K., McKenna, G. J., Emre, S., Schiano, T. D., Bu-Ghanim, M., Levi, G., & Fiel, M. I. (2005) · Seminars in Liver Disease · doi:10.1055/s-2005-871201 · Cited by 34 · see citing works
Park, S.-K., Haase, V. H., & Johnson, R. S. (2007) · International Journal of Oncology · doi:10.3892/ijo.30.2.341 · Cited by 32 · see citing works
Management of familial cancer: sequencing, surveillance and society
Samuel, N., Villani, A., Fernandez, C. V., & Malkin, D. M. (2014) · Nature Reviews Clinical Oncology · doi:10.1038/nrclinonc.2014.169 · Cited by 32 · see citing works
Restricting carbohydrates to fight head and neck cancer-is this realistic?
Klement, R. J. (2014) · PubMed Central · doi:10.7497/j.issn.2095-3941.2014.03.001 · Cited by 32 · see citing works
Wilms Tumor in a Child with L-2-hydroxyglutaric Aciduria
Rogers, R. E., DeBerardinis, R. J., Klesse, L. J., Boriack, R. L., Margraf, L. R., & Rakheja, D. (2010) · Pediatric and Developmental Pathology · doi:10.2350/09-12-0768-cr.1 · Cited by 29 · see citing works
Self-citationRasopathies – dysmorphic syndromes with short stature and risk of malignancy
Čizmárová, M., Kostalova, L., Pribilincová, Z., Lasabová, Z., Hlavatá, A., Kovács, L., & Ilenčíková, D. (2013) · Endocrine Regulations · doi:10.4149/endo_2013_04_217 · Cited by 27 · see citing works
New Advances in the Genetics of Pheochromocytoma and Paraganglioma Syndromes
Gimenez‐Roqueplo, A. (2006) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1353.012 · Cited by 22 · see citing works
Molecular modeling of BAD complex resided in a mitochondrion integrating glycolysis and apoptosis
Yang, J., Li, J., Wang, J., & Zhang, C. (2010) · Journal of Theoretical Biology · doi:10.1016/j.jtbi.2010.06.009 · Cited by 20 · see citing works
PET/MRI: a new technology in the field of molecular imaging
Afaq, A., Syed, R., & Bomanji, J. (2013) · British Medical Bulletin · doi:10.1093/bmb/ldt032 · Cited by 14 · see citing works
Wilcken, B. M. (2003) · PubMed · Cited by 13 · see citing works
Bilateral renal cell carcinoma development in long‐term Fabry disease
Cassiman, D. M., Claes, K., Lerut, E., Oyen, R., Joniau, S., Damme, B. V., & Jaeken, J. (2007) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-007-0648-1 · Cited by 13 · see citing works
Rivkees, S. A. (2007) · Journal of Pediatric Endocrinology and Metabolism · doi:10.1515/jpem.2007.20.8.849 · Cited by 5 · see citing works
Yang, H., Zhai, G., Ji, X., Su, J., & Lin, M. T. (2012) · Applied immunohistochemistry & molecular morphology · doi:10.1097/pai.0b013e318250c814 · Cited by 4 · see citing works
Nutrition in children affected by inherited metabolic diseases.
Giovannini, M., Biasucci, G., Luotti, D., Fiori, L., & Riva, E. (1995) · PubMed · Cited by 4 · see citing works
Gaucher disease, enzyme replacement therapy, and the Patient Assistance Program.
Goldwater, R. S. (1996) · PubMed · Cited by 4 · see citing works
"The Newborn Screening Saves Lives Act"--four million calls for support!
Rivkees, S. A. (2007) · PubMed · Cited by 3 · see citing works
Flagged first, then by citations
1 of the 127 references couldn’t be matched to a known paper.
Cited by
Sorted by citations
Fundamentals of Cancer Metabolism
DeBerardinis, R. J., & Chandel, N. S. (2016) · Science Advances · doi:10.1126/sciadv.1600200 · Cited by 3,013 · see citing works
Self-citationMetabolic reprogramming and cancer progression
Faubert, B., Solmonson, A., & DeBerardinis, R. J. (2020) · Science · doi:10.1126/science.aaw5473 · Cited by 2,740 · see citing works
Self-citationUnderstanding the Intersections between Metabolism and Cancer Biology
Heiden, M. G. V., & DeBerardinis, R. J. (2017) · Cell · doi:10.1016/j.cell.2016.12.039 · Cited by 2,316 · see citing works
Self-citationMitochondrial metabolism and cancer
Porporato, P. E., Filigheddu, N., Pedro, J. M. B., Kroemer, G., & Galluzzi, L. (2017) · Cell Research · doi:10.1038/cr.2017.155 · Cited by 1,292 · see citing works
Wang, Q., Chen, C., Ding, Q., Zhao, Y. Q., Wang, Z., Chen, J., Jiang, Z., Zhang, Y., Xu, G., Zhang, J., et al. (2019) · Gut · doi:10.1136/gutjnl-2019-319639 · Cited by 861 · see citing works
Lieu, E. L., Nguyen, T. A., Rhyne, S., & Kim, J. (2020) · Experimental & Molecular Medicine · doi:10.1038/s12276-020-0375-3 · Cited by 827 · see citing works
Suppression of antitumor T cell immunity by the oncometabolite (R)-2-hydroxyglutarate
Bunse, L., Pusch, S., Bunse, T., Sahm, F., Sanghvi, K., Friedrich, M., Alansary, D., Sonner, J. K., Green, E., Deumelandt, K., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0095-6 · Cited by 544 · see citing works
Regulation and function of the mammalian tricarboxylic acid cycle
Arnold, P. K., & Finley, L. W. S. (2023) · Journal of Biological Chemistry · doi:10.1016/j.jbc.2022.102838 · Cited by 535 · see citing works
“Human patients who present with mutations in TCA cycle–associated genes display neonatal symptoms, developmental defects, and failure to thrive (9, 10).”
BackgroundMetabolic signatures of cancer cells and stem cells
Intlekofer, A. M., & Finley, L. W. S. (2019) · Nature Metabolism · doi:10.1038/s42255-019-0032-0 · Cited by 322 · see citing works
Targeting Metabolic Plasticity and Flexibility Dynamics for Cancer Therapy
Fendt, S., Frezza, C., & Erez, A. (2020) · Cancer Discovery · doi:10.1158/2159-8290.cd-20-0844 · Cited by 320 · see citing works
Self-citationMetabolic reprogramming by traditional Chinese medicine and its role in effective cancer therapy
Wang, S., Fu, J., Hao, H., Jiao, Y., Li, P., & Han, S. (2021) · Pharmacological Research · doi:10.1016/j.phrs.2021.105728 · Cited by 204 · see citing works
Cassim, S., Vučetić, M., Ždralević, M., & Pouysségur, J. (2020) · Cancers · doi:10.3390/cancers12051119 · Cited by 176 · see citing works
Connections between metabolism and epigenetics in cancers
Thakur, C., & Chen, F. (2019) · Seminars in Cancer Biology · doi:10.1016/j.semcancer.2019.06.006 · Cited by 172 · see citing works
Targeting Metabolic–Redox Circuits for Cancer Therapy
Wang, K., Jiang, J., Lei, Y., Zhou, S., Wei, Y., & Huang, C. (2019) · Trends in Biochemical Sciences · doi:10.1016/j.tibs.2019.01.001 · Cited by 162 · see citing works
Drugging the addict: non‐oncogene addiction as a target for cancer therapy
Nagel, R., Semenova, E. A., & Berns, A. J. M. (2016) · EMBO Reports · doi:10.15252/embr.201643030 · Cited by 153 · see citing works
MERAV: a tool for comparing gene expression across human tissues and cell types
Shaul, Y. D., Yuan, B., Thiru, P., Nutter-Upham, A., McCallum, S., Lanzkron, C., Bell, G. W., & Sabatini, D. M. (2015) · Nucleic Acids Research · doi:10.1093/nar/gkv1337 · Cited by 128 · see citing works
A chemoproteomic portrait of the oncometabolite fumarate
Kulkarni, R. A., Bak, D. W., Wei, D., Bergholtz, S. E., Briney, C. A., Shrimp, J. H., Alpsoy, A., Thorpe, A. L., Bavari, A. E., Crooks, D. R., et al. (2019) · Nature Chemical Biology · doi:10.1038/s41589-018-0217-y · Cited by 121 · see citing works
Interplay Among Metabolism, Epigenetic Modifications, and Gene Expression in Cancer
Huo, M., Zhang, J., Huang, W., & Wang, Y. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.793428 · Cited by 114 · see citing works
Hallmarks of Pulmonary Hypertension: Mesenchymal and Inflammatory Cell Metabolic Reprogramming
D’Alessandro, A., Kasmi, K. C. E., Plecitá‐Hlavatá, L., Ježek, P., Li, M., Zhang, H., Gupte, S. A., & Stenmark, K. R. (2017) · Antioxidants and Redox Signaling · doi:10.1089/ars.2017.7217 · Cited by 110 · see citing works
Early loss of mitochondrial complex I and rewiring of glutathione metabolism in renal oncocytoma
Gopal, R. K., Calvo, S. E., Shih, A. R., Chaves, F. L., McGuone, D., Mick, E., Pierce, K. A., Li, Y., Garofalo, A., Allen, E. M. V., et al. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1711888115 · Cited by 102 · see citing works
Electron transport chain inhibition increases cellular dependence on purine transport and salvage
Wu, Z., Bezwada, D., Cai, F., Harris, R. C., Ko, B., Sondhi, V., Pan, C., Vu, H., Nguyen, P. T., Faubert, B., et al. (2024) · Cell Metabolism · doi:10.1016/j.cmet.2024.05.014 · Cited by 101 · see citing works
Self-citationThe context-specific roles of urea cycle enzymes in tumorigenesis
Hajaj, E., Sciacovelli, M., Frezza, C., & Erez, A. (2021) · Molecular Cell · doi:10.1016/j.molcel.2021.08.005 · Cited by 93 · see citing works
Self-citationFernández-Gil, B. I., Guerra‐Librero, A., Shen, Y., Florido, J., Martínez-Ruiz, L., García-López, S., Adan, C., Rodríguez-Santana, C., Acuña-Castroviejo, D., Quiñones‐Hinojosa, A., et al. (2019) · Oxidative Medicine and Cellular Longevity · doi:10.1155/2019/7187128 · Cited by 92 · see citing works
ERK2 Phosphorylates PFAS to Mediate Posttranslational Control of De Novo Purine Synthesis
Ali, E. S., Sahu, U., Villa, E., O’Hara, B. P., Gao, P., Beaudet, C., Wood, A. W., Asara, J. M., & Ben‐Sahra, I. (2020) · Molecular Cell · doi:10.1016/j.molcel.2020.05.001 · Cited by 74 · see citing works
The pyruvate dehydrogenase complex: Life’s essential, vulnerable and druggable energy homeostat
Stacpoole, P. W., & McCall, C. E. (2023) · Mitochondrion · doi:10.1016/j.mito.2023.02.007 · Cited by 68 · see citing works
On metabolic reprogramming and tumor biology: A comprehensive survey of metabolism in breast cancer
Penkert, J., Ripperger, T., Schieck, M., Schlegelberger, B., Steinemann, D., & Illig, T. (2016) · Oncotarget · doi:10.18632/oncotarget.11759 · Cited by 62 · see citing works
Yang, F., Li, J., Deng, H., Wang, Y., Lei, C., Wang, Q., Jin, X., Liang, L., Xia, J. L., Pan, X., et al. (2019) · The EMBO Journal · doi:10.15252/embj.2019101964 · Cited by 58 · see citing works
Connections between metabolism and epigenetics: mechanisms and novel anti-cancer strategy
Chen, C., Wang, Z., & Qin, Y. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.935536 · Cited by 60 · see citing works
Metabolomics and lipidomics strategies in modern drug discovery and development
Astarita, G., Kelly, R. S., & Lasky-Su, J. A. (2023) · Drug Discovery Today · doi:10.1016/j.drudis.2023.103751 · Cited by 59 · see citing works
Mikkilineni, L., Whitaker‐Menezes, D., Domingo‐Vidal, M., Sprandio, J. D., Avena, P., Cotzia, P., Dulau‐Florea, A., Gong, J. Z., Uppal, G. K., Zhan, T., et al. (2017) · Seminars in Oncology · doi:10.1053/j.seminoncol.2017.10.003 · Cited by 55 · see citing works
Non-canonical roles of PFKFB3 in regulation of cell cycle through binding to CDK4
Jia, W., Zhao, X., Zhao, L., Yan, H., Li, J., Yang, H., Huang, G., & Liu, J. (2018) · Oncogene · doi:10.1038/s41388-017-0072-4 · Cited by 54 · see citing works
long, Y. N., Tsai, W.-B., Wang, D., Hawke, D. H., Savaraj, N., Feun, L. G., Hung, M., Chen, H. H. W., & Kuo, M. T. (2016) · Cancer Letters · doi:10.1016/j.canlet.2016.11.028 · Cited by 51 · see citing works
Sebestyén, A. R., Dankó, T., Sztankovics, D., Moldvai, D., Raffay, R. E., Cervi, C., Krencz, I., Zsiros, V., Jeney, A., & Petővári, G. (2021) · Cancer and Metastasis Reviews · doi:10.1007/s10555-021-10006-2 · Cited by 46 · see citing works
Rescue of TCA Cycle Dysfunction for Cancer Therapy
Marquez, J. C., Flores, J., Kim, A. H., Nyamaa, B., Nguyen, A. T. T., Park, N., & Han, J. (2019) · Journal of Clinical Medicine · doi:10.3390/jcm8122161 · Cited by 46 · see citing works
Metabolic Pathways, Enzymes, and Metabolites: Opportunities in Cancer Therapy
Kumar, R., Mishra, A., Gautam, P., Feroz, Z., Vijayaraghavalu, S., Likos, E., Shukla, G. C., & Kumar, M. (2022) · Cancers · doi:10.3390/cancers14215268 · Cited by 48 · see citing works
Jonnalagadda, S., Jonnalagadda, S. K., Alam, M. A., Ronayne, C. T., Nelson, G. L., Solano, L. N., Lueth, E. A., Drewes, L. R., & Mereddy, V. R. (2016) · Bioorganic & Medicinal Chemistry Letters · doi:10.1016/j.bmcl.2016.05.054 · Cited by 43 · see citing works
PCK1 Regulates Glycolysis and Tumor Progression in Clear Cell Renal Cell Carcinoma Through LDHA
Shi, L., An, S., Liu, Y., Liu, J., & Wang, F. (2020) · OncoTargets and Therapy · doi:10.2147/ott.s241717 · Cited by 45 · see citing works
ASS1 and ASL suppress growth in clear cell renal cell carcinoma via altered nitrogen metabolism
Khare, S., Kim, L. C., Lobel, G. P., Doulias, P., Ischiropoulos, H., Nissim, I., Keith, B., & Simon, M. C. (2021) · Cancer & Metabolism · doi:10.1186/s40170-021-00271-8 · Cited by 43 · see citing works
The KEAP1–NRF2 pathway regulates TFEB/TFE3-dependent lysosomal biogenesis
Ong, A. J. S., Bladen, C. E., Tigani, T. A., Karamalakis, A. P., Evason, K. J., Brown, K., & Cox, A. G. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2217425120 · Cited by 43 · see citing works
Colorectal cancer and therapy response: a focus on the main mechanisms involved
Tirendi, S., Marengo, B., Domenicotti, C., Bassi, A. M., Almonti, V., & Vernazza, S. (2023) · Frontiers in Oncology · doi:10.3389/fonc.2023.1208140 · Cited by 35 · see citing works
A metabolic link between the urea cycle and cancer cell proliferation
Nagamani, S. C. S., & Erez, A. (2016) · Molecular & Cellular Oncology · doi:10.1080/23723556.2015.1127314 · Cited by 36 · see citing works
Self-citationPhosphoglycerate dehydrogenase is a novel predictor for poor prognosis in gastric cancer
Wu, H. J., Xian, Y., Zhang, S., Wang, X., Jin, Q., & Wang, W. (2016) · OncoTargets and Therapy · doi:10.2147/ott.s105787 · Cited by 36 · see citing works
Sun, Q., Yuan, M., Wang, H., Zhang, X., Zhang, R., Wang, H., Chen, X., Zhu, M., Liu, S., & Wu, J. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.767116 · Cited by 35 · see citing works
Sade, D., Shaham‐Niv, S., Arnon, Z. A., Tavassoly, O., & Gazit, E. (2018) · Open Biology · doi:10.1098/rsob.170229 · Cited by 34 · see citing works
Bawa, S., Piccirillo, R., & Geisbrecht, E. R. (2021) · Biomolecules · doi:10.3390/biom11030408 · Cited by 34 · see citing works
ASL Metabolically Regulates Tyrosine Hydroxylase in the Nucleus Locus Coeruleus
Lerner, S., Anderzhanova, E. A., Verbitsky, S., Eilam, R., Kuperman, Y., Tsoory, M., Kuznetsov, Y., Brandis, A. S., Mehlman, T., Mazkereth, R., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.10.043 · Cited by 31 · see citing works
Self-citationRedox-Responsive MRI Probes Based on First-Row Transition-Metal Complexes
Morrow, J. R., Raymond, J. J., Chowdhury, M. S. I., & Sahoo, P. R. (2022) · Inorganic Chemistry · doi:10.1021/acs.inorgchem.2c02197 · Cited by 32 · see citing works
Liver neoplasms in methylmalonic aciduria: An emerging complication
Forny, P., Hochuli, M., Rahman, Y., Deheragoda, M. G., Weber, A., Baruteau, J., & Grünewald, S. (2019) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12143 · Cited by 31 · see citing works
Goldman, O., Adler, L. N., Hajaj, E., Croese, T., Darzi, N., Galai, S., Tishler, H., Ariav, Y., Lavie, D., Fellus-Alyagor, L., et al. (2023) · Cancer Discovery · doi:10.1158/2159-8290.cd-22-1062 · Cited by 30 · see citing works
Self-citationCo-opting a Bioorthogonal Reaction for Oncometabolite Detection
Zengeya, T. T., Garlick, J. M., Kulkarni, R. A., Miley, M., Roberts, A. M., Yang, Y., Crooks, D. R., Sourbier, C., Linehan, W. M., & Meier, J. L. (2016) · Journal of the American Chemical Society · doi:10.1021/jacs.6b09706 · Cited by 30 · see citing works
Nanozymes in cancer immunotherapy: metabolic disruption and therapeutic synergy
Xu, X., Zhang, Y., Meng, C., Zheng, W., Wang, L., Zhao, C., & Luo, F. (2024) · Journal of Materials Chemistry B · doi:10.1039/d4tb00769g · Cited by 28 · see citing works
The mitochondrial carrier Citrin plays a role in regulating cellular energy during carcinogenesis
Rabinovich, S., Silberman, A., Adler, L. N., Agron, S., Levin‐Zaidman, S., Bahat, A., Porat, Z., Ben‐Zeev, E., Geva, I., Itkin, M., et al. (2019) · Oncogene · doi:10.1038/s41388-019-0976-2 · Cited by 28 · see citing works
Self-citationReprogramming of urea cycle in cancer: Mechanism, regulation and prospective therapeutic scopes
Ghosh, N., Mahalanobish, S., & Sil, P. C. (2024) · Biochemical Pharmacology · doi:10.1016/j.bcp.2024.116326 · Cited by 26 · see citing works
Pathophysiological Integration of Metabolic Reprogramming in Breast Cancer
Corchado‐Cobos, R., García‐Sancha, N., Mendiburu‐Eliçabe, M., Gómez-Vecino, A., Jiménez‐Navas, A., Pérez‐Baena, M. J., Holgado-Madruga, M., Mao, J., Cañueto, J., Castillo‐Lluva, S., et al. (2022) · Cancers · doi:10.3390/cancers14020322 · Cited by 25 · see citing works
Exploiting epigenetics for the treatment of inborn errors of metabolism
Rutten, M. G. S., Rots, M. G., & Oosterveer, M. H. (2019) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12093 · Cited by 24 · see citing works
Celsi, F., Monasta, L., Arrigoni, G., Battisti, I., Licastro, D., Aloisio, M., Lorenzo, G. D., Romano, F., Ricci, G., & Ura, B. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23042076 · Cited by 22 · see citing works
Flux analysis of inborn errors of metabolism
Reijngoud, D. (2018) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-017-0124-5 · Cited by 22 · see citing works
Lerner, S., Eilam, R., Adler, L. N., Baruteau, J., Kreiser, T., Tsoory, M., Brandis, A. S., Mehlman, T., Ryten, M., Botía, J. A., et al. (2021) · Human Genetics · doi:10.1007/s00439-021-02345-5 · Cited by 19 · see citing works
Self-citationRuidas, B., Sur, T. K., Pal, K., Chaudhury, S. S., Prasad, P., Sinha, K., Sarkar, P. K., Das, P., & Mukhopadhyay, C. D. (2020) · Molecular Biology Reports · doi:10.1007/s11033-020-05467-7 · Cited by 21 · see citing works
Bieńkowski, M., Tomasik, B., Braun, M., & Jassem, J. (2022) · Cancer Treatment Reviews · doi:10.1016/j.ctrv.2022.102359 · Cited by 18 · see citing works
The Interplay between Dysregulated Metabolism and Epigenetics in Cancer
Bassal, M. A. (2023) · Biomolecules · doi:10.3390/biom13060944 · Cited by 19 · see citing works
Yang, Y., Li, X., Liu, F., Ma, M., Yang, Y., Ruan, C., Lü, Y., Li, X., Wang, X., Shi, Y., et al. (2025) · JCI Insight · doi:10.1172/jci.insight.174600 · Cited by 19 · see citing works
The Metabolostasis Network and the Cellular Depository of Aggregation‐Prone Metabolites
Levkovich, S. A., Gazit, E., & Bar‐Yosef, D. L. (2023) · Angewandte Chemie International Edition · doi:10.1002/anie.202217622 · Cited by 16 · see citing works
Liu, D., Wang, Y., Li, X., Wang, Y., Zhang, Z., Wang, Z., & Zhang, X. (2023) · Amino Acids · doi:10.1007/s00726-023-03316-y · Cited by 16 · see citing works
Smart delivery vehicles for cancer: categories, unique roles and therapeutic strategies
Zeng, Y., Gao, Y., He, L., Ge, W., Wang, X., Ma, T., & Xie, X.-Y. (2024) · Nanoscale Advances · doi:10.1039/d4na00285g · Cited by 15 · see citing works
Photoinducible Oncometabolite Detection
Kulkarni, R. A., Briney, C. A., Crooks, D. R., Bergholtz, S. E., Mushti, C., Lockett, S., Lane, A. N., Fan, T. W. ‐., Swenson, R. E., Linehan, W. M., et al. (2018) · ChemBioChem · doi:10.1002/cbic.201800651 · Cited by 12 · see citing works
Ng, T. K. S., Kovalik, J., Ching, J., Chan, A. W.-M., & Matchar, D. B. (2020) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2020.111405 · Cited by 12 · see citing works
Fu, C. S., Yu, Z., He, Y., Ding, J., & Wei, M. (2021) · OncoTargets and Therapy · doi:10.2147/ott.s306405 · Cited by 12 · see citing works
da Silva, I., Vieira, R. D. C., Stella, C., Loturco, E. G., Carvalho, A. L., Véo, C. A. R., Scapulatempo‐Neto, C., Silva, S. M., D’Amora, P., Salzgeber, M. B., et al. (2018) · Oncotarget · doi:10.18632/oncotarget.25839 · Cited by 12 · see citing works
GSTZ1‐1 downregulates Wnt/β‐catenin signalling in hepatocellular carcinoma cells
Lei, C., Wang, Q., Tang, N., & Wang, K. (2019) · FEBS Open Bio · doi:10.1002/2211-5463.12769 · Cited by 12 · see citing works
Karabulutoglu, M., Finnon, R., Imaoka, T., Friedl, A. A., & Badie, C. (2018) · International Journal of Radiation Biology · doi:10.1080/09553002.2018.1490042 · Cited by 11 · see citing works
Fan, Z., Li, L., Li, X., Zhang, M., Dou, M., Zhao, J., Cao, J., Deng, X., Zhang, M., Li, H., et al. (2019) · Aging · doi:10.18632/aging.101761 · Cited by 11 · see citing works
The epigenetic–metabolic interplay in gliomagenesis
Phasaludeen, B., Emerald, B. S., & Ansari, S. A. (2022) · Open Biology · doi:10.1098/rsob.210350 · Cited by 10 · see citing works
Targeting Mitochondria through the Use of Mitocans as Emerging Anticancer Agents
Macasoi, I. G., Mioc, A., Mioc, M., Racoviceanu, R., Şoica, I., Chevereșan, A., Dehelean, C. A., & Dumitraşcu, V. (2019) · Current Medicinal Chemistry · doi:10.2174/0929867326666190712150638 · Cited by 10 · see citing works
Hajaj, E., Pozzi, S., & Erez, A. (2023) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a041538 · Cited by 10 · see citing works
Self-citationClinical and biochemical footprints of inherited metabolic diseases. VIII. Neoplasias
Serrano, T. J., Blau, N., & Ferreira, C. R. (2022) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2022.03.011 · Cited by 9 · see citing works
Rafiyan, M., Davoodvandi, A., Reiter, R. J., Mansournia, M. A., Manesh, S. M. R., Arabshahi, V., & Asemi, Z. (2023) · Pathology - Research and Practice · doi:10.1016/j.prp.2023.155031 · Cited by 9 · see citing works
Oxidative Stress and X-ray Exposure Levels-Dependent Survival and Metabolic Changes in Murine HSPCs
Karabulutoglu, M., Finnon, R., Cruz-Garcia, L., Hill, M. A., & Badie, C. (2021) · Antioxidants · doi:10.3390/antiox11010011 · Cited by 9 · see citing works
Brivanib in combination with Notch3 silencing shows potent activity in tumour models
Giovannini, C., Salzano, A. M., Baglioni, M., Vitale, M., Scaloni, A., Zambrano, N., Giannone, F. A., Vasuri, F., D’Errico, A., Svegliati‐Baroni, G., et al. (2019) · British Journal of Cancer · doi:10.1038/s41416-018-0375-4 · Cited by 9 · see citing works
Bilsland, A. E., Liu, Y., Turnbull, A. P., Sumpton, D. P., Stevenson, K. H., Cairney, C. J., Boyd, S. M., Roffey, J., Jenkinson, D., & Keith, W. N. (2019) · Neoplasia · doi:10.1016/j.neo.2019.07.008 · Cited by 9 · see citing works
Citrate clearance is a major function of aconitase 2 in the canonical TCA cycle
Xie, A., Brunner, J. S., Chakraborty, S., Montero, A. M., Bridgeman, A. E., Paras, K. I., Cui, R., Fagoaga-Eugui, M., Komza, M., Arnold, P. K., et al. (2026) · Cell · doi:10.1016/j.cell.2026.01.028 · Cited by 11 · see citing works
Plasma Metabolome Signature Indicative of BRCA1 Germline Status Independent of Cancer Incidence
Penkert, J., Märtens, A., Seifert, M., Auber, B., Derlin, K., Hille‐Betz, U., Hörmann, P., Klopp, N., Prokein, J., Schlicker, L., et al. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.627217 · Cited by 8 · see citing works
Garfinkel, A. M., İlker, E., Miyazawa, H., Schmeißer, K., & Tennessen, J. M. (2024) · Development · doi:10.1242/dev.202937 · Cited by 7 · see citing works
Ratiometric Oxygen Sensing with H-NOX Protein Conjugates
Lemon, C. M., Hanley, D., Batka, A. E., & Marletta, M. A. (2022) · Inorganic Chemistry · doi:10.1021/acs.inorgchem.2c01430 · Cited by 7 · see citing works
Rmaileh, A. A., Solaimuthu, B., Tanna, M., Khatib, A., Yosef, M. B., Hayashi, A., Lichtenstein, M., & Shaul, Y. D. (2020) · Biomolecules · doi:10.3390/biom10050701 · Cited by 7 · see citing works
PAX3-FOXO1 Drives Targetable Cell State–Dependent Metabolic Vulnerabilities in Rhabdomyosarcoma
Paras, K. I., Brunner, J. S., Boyer, J. A., Montero, A. M., Jackson, B. T., Chakraborty, S., Xie, A., Guillan, K. C., Siddiquee, A. H., Torres, L. P., et al. (2025) · Cancer Research · doi:10.1158/0008-5472.can-25-0315 · Cited by 4 · see citing works
Zhao, Z., Deng, S., Wang, Q., Jia, C., & Yang, J. (2022) · Clinical Cancer Investigation Journal · doi:10.51847/0ozasxscb1 · Cited by 4 · see citing works
Rewiring amino acids in cancer
Zhang, Y., Lyu, J., & Fang, H. (2025) · Biochimica et Biophysica Acta (BBA) - Reviews on Cancer · doi:10.1016/j.bbcan.2025.189465 · Cited by 4 · see citing works
Bahia, D. (2017) · Frontiers in Cellular and Infection Microbiology · doi:10.3389/fcimb.2017.00426 · Cited by 3 · see citing works
Law, C. Y., & Lam, C. (2022) · Clinica Chimica Acta · doi:10.1016/j.cca.2022.08.019 · Cited by 3 · see citing works
The Metabolostasis Network and the Cellular Depository of Aggregation‐Prone Metabolites
Levkovich, S. A., Gazit, E., & Bar‐Yosef, D. L. (2023) · Angewandte Chemie · doi:10.1002/ange.202217622 · Cited by 3 · see citing works
Zhang, X., Yuan, T., Keijer, J., & de Boer, V. C. J. (2021) · PLoS ONE · doi:10.1371/journal.pone.0253926 · Cited by 3 · see citing works
Zhu, Q. F., Chen, Y., Lin, Z., Lin, J., Zhang, Z., Pang, S., Zhu, J., Li, D., Ning, G., & Li, F. (2025) · ACS Applied Materials & Interfaces · doi:10.1021/acsami.5c20344 · Cited by 2 · see citing works
A Novel Biological Nano Confinement Inhibits Cancer Metastasis
Lu, S., Zhao, Z., Lv, Z., & Yang, J. (2022) · ONCOLOGIE · doi:10.32604/oncologie.2022.025144 · Cited by 2 · see citing works
Burlina, A., Burlina, A. P., Mignani, R., Cazzorla, C., Gueraldi, D., Puma, A., Loro, C., Baumgartner, M. R., & Gragnaniello, V. (2024) · JIMD Reports · doi:10.1002/jmd2.12411 · Cited by 2 · see citing works
Carapezza, G., Minardi, S. P., Noci, S., Pintarelli, G., Zanutto, S., Incarbone, M., Tosi, D., Dragani, T. A., Colombo, F., Pierotti, M. A., et al. (2025) · Genes Chromosomes and Cancer · doi:10.1002/gcc.70040 · Cited by 2 · see citing works
A Topical Report on the Design Principles of Metabolism
Halbrook, C. J., Lee, H., Cantley, L. C., & Lyssiotis, C. A. (2017) · Springer eBooks · doi:10.1007/978-3-319-61401-4_2 · Cited by 1 · see citing works
The Effects Of Bone Marrow Adipocytes On Metabolic Regulation In Metastatic Prostate Cancer
Diedrich, J. D. (2017) · Human Biology
Late-onset multiple acyl-CoA dehydrogenase deficiency with breast cancer
Pavithran, K., Pachat, D., & Vijaykumar, D. K. (2020) · Egyptian Journal of Medical Human Genetics · doi:10.1186/s43042-020-00121-0
- Authors
- Erez, A., & DeBerardinis, R. J.
- Affiliations
- Weizmann Institute of Science (IL)
- Children's Medical Center (US)
- Corresponding author
- Erez, Ayelet
- DeBerardinis, Ralph J.
- Venue
- Nature Reviews Cancer
- Published
- 2015-06-18
- Volume
- 15
- Issue
- 7
- Pages
- 440-448
- ISSN
- 1474-175X (ISSN-L)
- 1474-1768
- OpenAlex
- W1541421641
- Cited by
- 105
- References
- 127
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 7 · 2023: 12 · 2022: 13 · 2021: 13 · 2020: 10 · 2019: 18 · 2018: 9 · 2017: 7 · 2016: 8 · 2015: 1
- FWCI
- 0.86
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature reviews. Cancer (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Cancer Institute (CA157996, R01CA157996)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer, Hypoxia, and Metabolism
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer, Lipids, and Metabolism
- Keywords
- inborn errors of metabolism, monogenic disorders, metabolic dysfunction, cancer, metabolic enzymes, metabolic modulators, cancer susceptibility, cancer diagnosis, cancer therapy, rare diseases, carcinogenesis
- MeSH terms
- Animals, Glycolysis, Humans, Isocitrate Dehydrogenase, Metabolism, Inborn Errors, Neoplasms, Phosphoglycerate Dehydrogenase
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