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Didem Demirbas Cakici, Ph.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Ficicioglu C, Demirbas D, Derks B, Pai GS, Timson DJ, Rubio-Gozalbo ME, Berry GT. [13C]-galactose breath test in a patient with galactokinase deficiency and spastic diparesis. JIMD Rep. 2021 May; 59(1):104-109. PMID: 33977035.
    Citations:    
  2. Rubio-Gozalbo ME, Derks B, Das AM, Meyer U, Möslinger D, Couce ML, Empain A, Ficicioglu C, Juliá Palacios N, De Los Santos De Pelegrin MM, Rivera IA, Scholl-Bürgi S, Bosch AM, Cassiman D, Demirbas D, Gautschi M, Knerr I, Labrune P, Skouma A, Verloo P, Wortmann SB, Treacy EP, Timson DJ, Berry GT. Galactokinase deficiency: lessons from the GalNet registry. Genet Med. 2021 01; 23(1):202-210. PMID: 32807972; PMCID: PMC7790741.
    Citations: 5     Fields:    Translation:Humans
  3. Berry GT, Blume ED, Wessel A, Singh T, Hecht L, Marsden D, Sahai I, Elisofon S, Ferguson M, Kim HB, Harris DJ, Demirbas D, Almuqbil M, Nyhan WL. The re-occurrence of cardiomyopathy in propionic acidemia after liver transplantation. JIMD Rep. 2020 Jul; 54(1):3-8. PMID: 32685343; PMCID: PMC7358669.
    Citations: 1     
  4. Bedoyan JK, Hecht L, Zhang S, Tarrant S, Bergin A, Demirbas D, Yang E, Shin HK, Grahame GJ, DeBrosse SD, Hoppel CL, Kerr DS, Berry GT. A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency. JIMD Rep. 2019 Jul; 48(1):26-35. PMID: 31392110; PMCID: PMC6606986.
    Citations: 2     
  5. Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT. The natural history of classic galactosemia: lessons from the GalNet registry. Orphanet J Rare Dis. 2019 04 27; 14(1):86. PMID: 31029175; PMCID: PMC6486996.
    Citations: 20     Fields:    Translation:HumansPHPublic Health
  6. Demirbas D, Harris DJ, Arn PH, Huang X, Waisbren SE, Anselm I, Lerner-Ellis JP, Wong LJ, Levy HL, Berry GT. Phenotypic variability in deficiency of the a subunit of succinate-CoA ligase. JIMD Rep. 2019 Mar; 46(1):63-69. PMID: 31240156; PMCID: PMC6498818.
    Citations: 2     
  7. Demirbas D, Huang X, Daesety V, Feenstra S, Haskovic M, Qi W, Gubbels CS, Hecht L, Levy HL, Waisbren SE, Berry GT. The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency. Mol Genet Metab. 2019 04; 126(4):368-376. PMID: 30718057.
    Citations: 1     Fields:    Translation:HumansCells
  8. Haskovic M, Derks B, van der Ploeg L, Trommelen J, Nyakayiru J, van Loon LJC, Mackinnon S, Yue WW, Peake RWA, Zha L, Demirbas D, Qi W, Huang X, Berry GT, Achten J, Bierau J, Rubio-Gozalbo ME, Coelho AI. Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia. Orphanet J Rare Dis. 2018 11 26; 13(1):212. PMID: 30477550.
    Citations: 5     Fields:    Translation:HumansCells
  9. Almontashiri NAM, Demirbas D, Berry GT, Peake RWA. Hyperammonemia in a Child Presenting with Growth Delay, Short Stature, and Diarrhea. Clin Chem. 2018 08; 64(8):1260-1262. PMID: 30054302.
    Citations: 1     Fields:    Translation:Humans
  10. Rodan LH, Qi W, Ducker GS, Demirbas D, Laine R, Yang E, Walker MA, Eichler F, Rabinowitz JD, Anselm I, Berry GT. 5,10-methenyltetrahydrofolate synthetase deficiency causes a neurometabolic disorder associated with microcephaly, epilepsy, and cerebral hypomyelination. Mol Genet Metab. 2018 09; 125(1-2):118-126. PMID: 30031689; PMCID: PMC6557438.
    Citations: 3     Fields:    Translation:Humans
  11. Demirbas D, Brucker WJ, Berry GT. Inborn Errors of Metabolism with Hepatopathy: Metabolism Defects of Galactose, Fructose, and Tyrosine. Pediatr Clin North Am. 2018 04; 65(2):337-352. PMID: 29502917.
    Citations: 7     Fields:    Translation:Humans
  12. Demirbas D, Coelho AI, Rubio-Gozalbo ME, Berry GT. Hereditary galactosemia. Metabolism. 2018 06; 83:188-196. PMID: 29409891.
    Citations: 21     Fields:    Translation:Humans
  13. Huang X, Bedoyan JK, Demirbas D, Harris DJ, Miron A, Edelheit S, Grahame G, DeBrosse SD, Wong LJ, Hoppel CL, Kerr DS, Anselm I, Berry GT. Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Mol Genet Metab. 2017 03; 120(3):213-222. PMID: 27913098; PMCID: PMC5346465.
    Citations: 12     Fields:    Translation:Humans
  14. Balakrishnan B, Chen W, Tang M, Huang X, Cakici DD, Siddiqi A, Berry G, Lai K. Galactose-1 phosphate uridylyltransferase (GalT) gene: A novel positive regulator of the PI3K/Akt signaling pathway in mouse fibroblasts. Biochem Biophys Res Commun. 2016 Jan 29; 470(1):205-212. PMID: 26773505; PMCID: PMC4728015.
    Citations: 9     Fields:    Translation:AnimalsCells
  15. Schlaeger TM, Daheron L, Brickler TR, Entwisle S, Chan K, Cianci A, DeVine A, Ettenger A, Fitzgerald K, Godfrey M, Gupta D, McPherson J, Malwadkar P, Gupta M, Bell B, Doi A, Jung N, Li X, Lynes MS, Brookes E, Cherry AB, Demirbas D, Tsankov AM, Zon LI, Rubin LL, Feinberg AP, Meissner A, Cowan CA, Daley GQ. A comparison of non-integrating reprogramming methods. Nat Biotechnol. 2015 Jan; 33(1):58-63. PMID: 25437882.
    Citations: 194     Fields:    Translation:HumansCells
  16. Abbott GW, Tai KK, Neverisky DL, Hansler A, Hu Z, Roepke TK, Lerner DJ, Chen Q, Liu L, Zupan B, Toth M, Haynes R, Huang X, Demirbas D, Buccafusca R, Gross SS, Kanda VA, Berry GT. KCNQ1, KCNE2, and Na+-coupled solute transporters form reciprocally regulating complexes that affect neuronal excitability. Sci Signal. 2014 Mar 04; 7(315):ra22. PMID: 24595108.
    Citations: 37     Fields:    Translation:AnimalsCells
  17. Demirbas D, Wyman AR, Shimizu-Albergine M, Cakici O, Beavo JA, Hoffman CS. A yeast-based chemical screen identifies a PDE inhibitor that elevates steroidogenesis in mouse Leydig cells via PDE8 and PDE4 inhibition. PLoS One. 2013; 8(8):e71279. PMID: 23967182.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  18. Demirbas D, Ceyhan O, Wyman AR, Hoffman CS. A fission yeast-based platform for phosphodiesterase inhibitor HTSs and analyses of phosphodiesterase activity. Handb Exp Pharmacol. 2011; (204):135-49. PMID: 21695638.
    Citations: 7     Fields:    Translation:Animals
  19. Demirbas D, Ceyhan O, Wyman AR, Ivey FD, Allain C, Wang L, Sharuk MN, Francis SH, Hoffman CS. Use of a Schizosaccharomyces pombe PKA-repressible reporter to study cGMP metabolising phosphodiesterases. Cell Signal. 2011 Mar; 23(3):594-601. PMID: 21118717.
    Citations: 7     Fields:    Translation:HumansAnimals
  20. Alaamery MA, Wyman AR, Ivey FD, Allain C, Demirbas D, Wang L, Ceyhan O, Hoffman CS. New classes of PDE7 inhibitors identified by a fission yeast-based HTS. J Biomol Screen. 2010 Apr; 15(4):359-67. PMID: 20228279.
    Citations: 11     Fields:    Translation:HumansAnimalsCells
  21. Ivey FD, Wang L, Demirbas D, Allain C, Hoffman CS. Development of a fission yeast-based high-throughput screen to identify chemical regulators of cAMP phosphodiesterases. J Biomol Screen. 2008 Jan; 13(1):62-71. PMID: 18227226.
    Citations: 12     Fields:    Translation:AnimalsCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.