UCSD Biochemical Genetics and Metabolomics Laboratory

A Program in the Division of Genetics, Department of Pediatrics, University of California San Diego

Selected Publications:

  1. Gaston G, Gangoiti JA, Winn S, Chan B, Barshop BA, Harding CO, Gillingham MB. Cardiac tissue citric acid cycle intermediates in exercised very long-chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglyceride. J Inherit Metab Dis. 2020 Nov;43(6):1232-1242. doi: 10.1002/jimd.12284. Epub 2020 Aug 4. PMID: 33448436.
  2. Geng H, Tsang M, Subbaraj L, Cleveland J, Chen L, Lu M, Sharma J, Vigneron DB, Kurhanewicz J, LaFontaine M, Luks T, Barshop BA, Gangoiti J, Villanueva-Meyer JE, Rubenstein JL. Tumor metabolism and neurocognition in CNS lymphoma. Neuro Oncol. 2021 Oct 1;23(10):1668-1679. doi: 10.1093/neuonc/noab045. PMID: 33625503; PMCID: PMC8485453.
  3. Sawh MC, Wallace M, Shapiro E, Goyal NP, Newton KP, Yu EL, Bross C, Durelle J, Knott C, Gangoiti JA, Barshop BA, Gengatharan JM, Meurs N, Schlein A, Middleton MS, Sirlin CB, Metallo CM, Schwimmer JB. Dairy Fat Intake, Plasma C15: 0 and Plasma Iso\-C17:0 are Inversely Associated with Liver Fat in Children. J Pediatr Gastroenterol Nutr. J Pediatr Gastroenterol Nutr. 2021 Apr 1;72(4):e90-e96. PMID: 33399331
  4. Gaston G, Gangoiti JA, Winn S, Chan B, Barshop BA, Harding CO, Gillingham MB. Cardiac tissue citric acid cycle intermediates in exercised very long chain acyl-CoA dehydrogenase-deficient mice fed triheptanoin or medium-chain triglyceride. J Inherit Metab Dis. 2020 43(6):1232-1242. PMID 3344843
  5. Concepcion J, Chen K, Saito R, Gangoiti J, Mendez E, Nikita ME, Barshop BA, Natarajan L, Sharma K, Kim JJ. Identification of pathognomonic purine synthesis biomarkers by metabolomic profiling of adolescents with obesity and type 2 diabetes. PLoS One. 2020;15(6):e0234970. PMID: 32589682 I
  6. Gertsman I, Barshop BA. Promises and pitfalls of untargeted metabolomics. Journal of inherited metabolic disease. 2018; 41(3):355-366. PubMed PMID: 29536203 PMCID: PMC5960440
  7. Li CQ, Barshop BA, Feigenbaum A, Khanna PC. Brain Magnetic Resonance Imaging Findings in Poorly Controlled Homocystinuria. Journal of radiology case reports. 2018; 12(1):1-8. PubMed PMID: 29875981 PMCID: PMC5965393
  8. McCurdy CE, Schenk S, Hetrick B, Houck J, Drew BG, Kaye S, Lashbrook M, Bergman BC, Takahashi DL, Dean TA, Nemkov T, Gertsman I, Hansen KC, Philp A, Hevener AL, Chicco AJ, Aagaard KM, Grove KL, Friedman JE. Maternal obesity reduces oxidative capacity in fetal skeletal muscle of Japanese macaques. JCI Insight. 2016 Oct 6;1(16):e86612. PubMed PMID: 27734025; PubMed Central PMCID: PMC5053156.
  9. Quinonez SC, Seeley AH, Lam C, Glover TW, Barshop BA, Keegan CE. Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency. JIMD Rep. 2016 Aug 13. [Epub ahead of print] PubMed PMID: 27518780.
  10. Kao MS, Wang Y, Marito S, Huang S, Lin WZ, Gangoiti JA, Barshop BA, Hyun C, Lee WR, Sanford JA, Gallo RL, Ran Y, Chen WT, Huang CJ, Hsieh MF, Huang CM. The mPEG-PCL Copolymer for Selective Fermentation of Staphylococcus lugdunensis Against Candida parapsilosis in the Human Microbiome. J Microb Biochem Technol. 2016 Aug;8(4):259-265. doi: 10.4172/1948-5948.1000295. Epub 2016 Jun 19. PubMed PMID: 28111598; PubMed Central PMCID: PMC5243119.
  11. Gertsman I, Johnson WS, Nishikawa C, Gangoiti JA, Holmes B, Barshop BA. Diagnosis and Monitoring of Cystinosis Using Immunomagnetically Purified Granulocytes. Clin Chem. 2016 May;62(5):766-72. doi: 10.1373/clinchem.2015.252494. Epub 2016 Mar 15. PubMed PMID: 26980209.
  12. Langman CB, Barshop BA, Deschênes G, Emma F, Goodyer P, Lipkin G, Midgley JP, Ottolenghi C, Servais A, Soliman NA, Thoene JG, Levtchenko EN; Conference Participants.. Controversies and research agenda in nephropathic cystinosis: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference. Kidney Int. 2016 Jun;89(6):1192-203. doi: 10.1016/j.kint.2016.01.033. PubMed PMID: 27181776.
  13. LaBarge SA, Migdal CW, Buckner EH, Okuno H, Gertsman I, Stocks B, Barshop BA, Nalbandian SR, Philp A, McCurdy CE, Schenk S. p300 is not required for metabolic adaptation to endurance exercise training. FASEB J. 2016 Apr;30(4):1623-33. doi: 10.1096/fj.15-281741. Epub 2015 Dec 28. PubMed PMID: 26712218; PubMed Central PMCID: PMC4799503.
  14. Opladen T, Lindner M, Das AM, Marquardt T, Khan A, Emre SH, Burton BK, Barshop BA, Böhm T, Meyburg J, Zangerl K, Mayorandan S, Burgard P, Dürr UH, Rosenkranz B, Rennecke J, Derbinski J, Yudkoff M, Hoffmann GF. In vivo monitoring of urea cycle activity with (13)C-acetate as a tracer of ureagenesis. Mol Genet Metab. 2016 Jan;117(1):19-26. doi: 10.1016/j.ymgme.2015.11.007. Epub 2015 Nov 14. PubMed PMID: 26597322.
  15. Khanna A, Gish R, Winter SC, Nyhan WL, Barshop BA. Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia. JIMD Rep. 2016;25:87-94. Epub 2015 Jul 29. PubMed PMID: 26219882; PubMed Central PMCID: PMC5059220.
  16. Gertsman I, Gangoiti JA, Nyhan WL, Barshop BA. Perturbations of tyrosine metabolism promote the indolepyruvate pathway via tryptophan in host and microbiome. Mol Genet Metab. 2015 Mar;114(3):431-7. doi: 10.1016/j.ymgme.2015.01.005. Epub 2015 Jan 29. PubMed PMID: 25680927.
  17. Gertsman I, Barshop BA, Panyard-Davis J, Gangoiti JA, Nyhan WL. Metabolic Effects of Increasing Doses of Nitisinone in the Treatment of Alkaptonuria. JIMD Rep. 2015;24:13-20. doi: 10.1007/8904_2014_403. Epub 2015 Feb 10. PubMed PMID: 25665838; PubMed Central PMCID: PMC4582031.
  18. Gertsman I, Gangoiti JA, Barshop BA. Validation of a dual LC-HRMS platform for clinical metabolic diagnosis in serum, bridging quantitative analysis and untargeted metabolomics. Metabolomics. 2014 Apr 4;10(2):312-323. PubMed PMID: 25411574; PubMed Central PMCID: PMC4234038.
  19. Shepard PJ, Barshop BA, Baumgartner MR, Hansen JB, Jepsen K, Smith EN, Frazer KA. Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD. Genet Med. 2015 Aug;17(8):660-7. doi: 10.1038/gim.2014.157. Epub 2014 Nov 6. PubMed PMID: 25356967; PubMed Central PMCID: PMC4422778.
  20. Merritt JL 2nd, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A. Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening. Mol Genet Metab. 2014 Apr;111(4):484-92. doi: 10.1016/j.ymgme.2014.01.009. Epub 2014 Jan 23. PubMed PMID: 24503138.
  21. Stockler-Ipsiroglu S, van Karnebeek C, Longo N, Korenke GC, Mercimek-Mahmutoglu S, Marquart I, Barshop B, Grolik C, Schlune A, Angle B, Araújo HC, Coskun T, Diogo L, Geraghty M, Haliloglu G, Konstantopoulou V, Leuzzi V, Levtova A, Mackenzie J, Maranda B, Mhanni AA, Mitchell G, Morris A, Newlove T, Renaud D, Scaglia F, Valayannopoulos V, van Spronsen FJ, Verbruggen KT, Yuskiv N, Nyhan W, Schulze A. Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring. Mol Genet Metab. 2014 Jan;111(1):16-25. doi: 10.1016/j.ymgme.2013.10.018. Epub 2013 Nov 7. PubMed PMID: 24268530.
  22. McCloskey D, Gangoiti JA, King ZA, Naviaux RK, Barshop BA, Palsson BO, Feist AM. A model-driven quantitative metabolomics analysis of aerobic and anaerobic metabolism in E. coli K-12 MG1655 that is biochemically and thermodynamically consistent. Biotechnol Bioeng. 2014 Apr;111(4):803-15. doi: 10.1002/bit.25133. Epub 2013 Nov 19. PubMed PMID: 24249002.
  23. Okamura DM, Bahrami NM, Ren S, Pasichnyk K, Williams JM, Gangoiti JA, Lopez-Guisa JM, Yamaguchi I, Barshop BA, Duffield JS, Eddy AA. Cysteamine modulates oxidative stress and blocks myofibroblast activity in CKD. J Am Soc Nephrol. 2014 Jan;25(1):43-54. doi: 10.1681/ASN.2012090962. Epub 2013 Sep 5. PubMed PMID: 24009239; PubMed Central PMCID: PMC3871767.
  24. Sharma K, Karl B, Mathew AV, Gangoiti JA, Wassel CL, Saito R, Pu M, Sharma S, You YH, Wang L, Diamond-Stanic M, Lindenmeyer MT, Forsblom C, Wu W, Ix JH, Ideker T, Kopp JB, Nigam SK, Cohen CD, Groop PH, Barshop BA, Natarajan L, Nyhan WL, Naviaux RK. Metabolomics reveals signature of mitochondrial dysfunction in diabetic kidney disease. J Am Soc Nephrol. 2013 Nov;24(11):1901-12. doi: 10.1681/ASN.2013020126. Epub 2013 Oct 10. PubMed PMID: 23949796; PubMed Central PMCID: PMC3810086.
  25. McCurdy CE, Schenk S, Hetrick B, Houck J, Drew BG, Kaye S, Lashbrook M, Bergman BC, Takahashi DL, Dean TA, Nemkov T, Gertsman I, Hansen KC, Philp A, Hevener AL, Chicco AJ, Aagaard KM, Grove KL, Friedman JE. Maternal obesity reduces oxidative capacity in fetal skeletal muscle of Japanese macaques. JCI Insight. 2016 Oct 6;1(16):e86612. PubMed PMID: 27734025; PubMed Central PMCID: PMC5053156.

Last edited: 26-Nov-2021