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Biochemical Genetics Department

Selected Publications

 

 

  1. “Inherited metabolic disorders in Cyprus.” Georgiou, Th., Petrou, PP., Malekkou, A., Ioannou, I., Gavatha, M., Skordis, N., Nicolaidou, P., Savvidou, I., Athanasiou, E., Ourani, S., Papamichael, E., Vogazianos, M., Dionysiou, M., Mavrikiou, G., Grafakou, O., Tanteles, GA., Anastasiadou, V., Drousiotou, A. Mol Genet Metab Rep. 2024 Apr 23;39:101083. doi: 10.1016/j.ymgmr.2024.101083.
  2. “A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.” Malekkou, A., Tomazou, M., Mavrikiou, G., Dionysiou, M., Georgiou, Th., Papaevripidou, I., Alexandrou, A., Sismani, C., Drousiotou, A., Grafakou, O., Petrou, PP. BMC Med Genomics 2024 Mar 25;17(1):78. doi: 10.1186/s12920-024-01846-2.
  3. “GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing”. 3.    Malekkou, A., Theodosiou, A., Alexandrou, A., Papaevripidou, I., Sismani, C., Jacobs, E. H., Rujiter, G. J. G., Anastasiadou, V., Ourani, S., Athanasiou, E., Drousiotou, A., Grafakou, O., Petrou, PP. Mol Genet Metab Rep 2023 Aug 7:36:100997. doi: 10.1016/j.ymgmr.2023.100997
  4. “Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter”. Batzios, S., Tal, G., 2, DiStasio, AT., Peng, Y., Charalambous, C., Nicolaides, P., Kamsteeg, E-J., Korman, SH., Mandel, H., Steinbach, PJ., Yi, L., Fair, SR., 10, Hester, ME., Drousiotou, A., Kaler SG. Hum. Mol. Genet. 2022 16;31(24):4121-4130. doi: 10.1093/hmg/ddac156.
  5. “Stbd1-deficient mice display insulin resistance associated with enhanced hepatic ER-mitochondria contact”. Kyriakoudi, S., Theodoulou, A., Potamiti, L., Schumacher, F., Zachariou, M., Papacharalambous, R., Kleuser, B., Panayiotidis, MI., Drousiotou, A., Petrou, PP.: Biochimie 2022, Sep;200:172-183. doi: 10.1016/j.biochi.2022.06.003
  6. "Stbd1 promotes glycogen clustering during endoplasmic reticulum stress and supports survival of mouse myoblasts". Lytridou AA., Demetriadou A., Christou M., Potamiti L., Mastroyiannopoulos NP, Kyriacou K., Phylactou LA., Drousiotou A., Petrou PP.J Cell Sci. 2020 Oct 26;133(20);jcs244855.doi: 10.1242/jcs.244855.PMID: 32958708
  7. "Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and Sphingolipid Content". Kyriakou K, Lederer CW, Kleanthous M, Drousiotou A, Malekkou A. Int J Mol Sci. 2020 Feb 26;21(5):1607. doi: 10.3390/ijms21051607
  8. "A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease". Malekkou A, Sevastou I, Mavrikiou G, Georgiou T, Vilageliu L, Moraitou M, Michelakakis H, Prokopiou C, Drousiotou A. Mol Genet Genomic Med. 2020 Mar;8(3):e1090. doi: 10.1002/mgg3.1090. Epub 2020 Jan 14.PMID: 31943857
  9. “Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study”.Papachristoforou R, Petrou PP, Sawyer H, Williams M, Drousiotou A. Ann Hum Genet. 2019;1–8.
  10. Biochemical Characterization of the GBA2 c.1780G>C Missense Mutation in Lymphoblastoid Cells from Patients with Spastic Ataxia. Malekkou A, Samarani M, Drousiotou A, Votsi C, Sonnino S, Pantzaris M, Chiricozzi E, Zamba-Papanicolaou E, Aureli M, Loberto N, Christodoulou K. Int J Mol Sci. 2018 Oct 10;19(10):3099. doi: 10.3390/ijms19103099.PMID: 30308956 
  11. “Mouse Stbd1 is N-myristoylated and affects ER-mitochondria association and mitochondrial morphology”. A Demetriadou, J Morales-Sanfrutos, M Nearchou, O Baba, K Kyriacou, EW Tate, A Drousiotou and PP Petrou. J Cell Sci. 2017 Mar 1;130(5):903-915. doi: 10.1242/jcs.195263.
  12. “Chitotriosidase deficiency in the Cypriot population: identification of a novel deletion in the CHIT1 gene”.  G Mavrikiou, P Petrou, Th Georgiou and A Drousiotou (2016) Clin Biochem 49: 885-889 doi:10.1016/j.clinbiochem.2016.03.013
  13. “Novel GLA Deletion in a Cypriot Female Presenting with Cornea Verticillata” Th Georgiou, G Mavrikiou, A Alexandrou, E Spanou-Aristidou, I Savva, Th Christodoulides, M Krasia, V Christophidou-Anastasiadou, C Sismani, A Drousiotou and G A Tanteles (2016) Case Reports in Genetics  doi: 10.1155/2016/5208312.  
  14. “Identifying Non-Duchenne Muscular Dystrophy-Positive and False Negative Results in Prior Duchenne Muscular Dystrophy Newborn Screening Programs: A Review”. MA Gatheridge, JM Kwon, JM Mendell, G Scheuerbrandt, SJ Moat, F Eyskens, C Rockman-Greenberg, A Drousiotou, RC Griggs (2015) JAMA Neurol. 2015 Nov 23:1-7. doi: 10.1001/jamaneurol.2015.3537.
  15. “Minimally symptomatic McArdle disease, expanding the genotype-phenotype spectrum”. P.Petrou, M. Pantzaris, M. Dionysiou, A. Drousiotou and Th. Kyriakides (2015) Muscle & Nerve 52(5):891-5. doi: 10.1002/mus.2, PMID 25240406.
  16. “Molecular analysis of Cypriot patients with Glutaric aciduria type I: Identification of two novel mutations”. Th. Georgiou, P. Nicolaidou, A. Hadjichristou, R. Ioannou, M. Dionysiou, E. Siama, G. Chappa, V. Anastasiadou, A. Drousiotou (2014) Clin Biochem 47: 1300-1305.
  17. “A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities”. R. Papachristoforou, P. P. Petrou, H. Sawyer, M. Williams, A. Drousiotou (2014) JIMD Rep. 2014;12:91-8. doi: 10.1007/8904_2013_249. Epub 2013 Sep 4.
  18. “The spectrum of mutations identified in Cypriot patients with phenylalanine hydroxylase deficiency detected through neonatal screening”. Th. Georgiou, G. Ho, M. Vogazianos, M. Dionysiou, A. Nicolaou, G. Chappa, P. Nicolaides, G. Stylianidou, J. Christodoulou, A. Drousiotou (2012) Clinical Biochemistry 45: 588-592.
  19. “Ethylmalonic Encephalopathy: Application of novel biochemical and molecular approaches”. A. Drousiotou, R. Mineri, Th. Georgiou, G. Stylianidou, V. Tiranti (2011) Clinical Genetics 79: 385-390.
  20. “MSUD in Cypriot families: Identification of three novel mutations and biochemical characterization of the p.Thr211Met mutation in the E1α subunit”. Th. Georgiou, J. L. Chuang, R. M. Wynn, G. Stylianidou, M. Korson, D. T. Chuang, A. Drousiotou (2009) Genetic Testing & Molecular Biomarkers 13(5): 657-664).
  21. “Naturally occurring utrophin correlates with disease severity in Duchenne Muscular Dystrophy”. K. Kleopas*, A. Drousiotou*, E. Mavrikiou, A. Ormiston and Th. Kyriakides (2006).  Human Molecular Genetics 15(10):1623-1628. * Equal contribution.
  22. "The Arg482His mutation in the β-galactosidase gene is responsible for a high frequency of GM1 Gangliosidosis carriers in a Cypriot village". T. Georgiou, G. Stylianidou, V. Anastasiadou, A. Caciotti, Y. Campos, E. Zammarchi, A. Morrone, A. D’Azzo and A. Drousiotou (2005). Genetic Testing 9(2):126-132.
  23. "Four novel mutations in patients from the Middle East with the Infantile from of GM1 Gangliosidosis". T. Georgiou, A. Drousiotou, Y. Campos, A. Caciotti, L. Sztriha, A. Gururaj, P. Ozand, E. Zammarchi, A. Morrone and A. D’Azzo (2004). Human Mutation 24(4): 352.
  24. "Molecular characterization of G6PD Deficiency in Cyprus". A. Drousiotou, E.H. Touma, N. Andreou, J. Loiselet, M. Angastiniotis, B.C. Verelli and S.A. Tishkoff (2004). Blood Cells, Molecules and Diseases 33(1): 25-30.
  25. "Evidence for Balancing Selection from Nucleotide Sequence Analysis of Human G6PD". B.C. Verelli, J.H. McDonald, G. Argyropoulos, G. Destro-Bisol, A. Froment, A. Drousiotou, G. Lefranc, A.N. Helal, J. Loiselet and S.A. Tishkoff (2002). Am J Hum Genet 71:5, 1112-1128.
  26. "Haplotype diversity and linkage disequilibrium at human G6PD: Recent origin of alleles that confer malarial resistance". S.A. Tishkoff, R. Varkonyi, N. Cahinhinan, S. Abbes, G. Argyropoulos, G. Destro-Bisol, A. Drousiotou, B. Dangerfield, G. Lefranc, J. Loiselet, A. Piro, M. Stoneking, A. Tagarelli, G. Tagarelli, E.H. Touma, S.M. Williams and A.G. Clark (2001). Science 293, 455-462.
  27. "Sandhoff disease in Cyprus: Population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community". A. Drousiotou, G. Stylianidou, V. Anastasiadou, G. Christopoulos, E. Mavrikiou, Th. Georgiou, G. Kalakoutis, A. Oladimeji, Y. Hara, K. Suzuki, K. Furihata, I. Ueno, P. Ioannou and A. Fensom (2000).  Human Genetics 107, 12-17.
  28. "Novel Splice Site Mutation at IVS8 nt5 of HEXB Responsible for a Greek-Cypriot Case of Sandhoff Disease".  K. Furihata, A. Drousiotou, Y. Hara, G.Christopoulos, G. Stylianidou, V. Anastasiadou, I. Ueno and P. Ioannou (1999).  Human Mutation 13, 38-43.
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