Helen Michelakakis

Summary

Affiliation: University of Athens
Country: Greece

Publications

  1. pmc Galactosialidosis: review and analysis of CTSA gene mutations
    Anna Caciotti
    Laboratory for Molecular and Cell Biology, Paediatric Neurology Unit and Laboratories, Meyer Children s Hospital, Viale Pieraccini n, 24, Florence 50139, Italy
    Orphanet J Rare Dis 8:114. 2013
  2. ncbi request reprint Iron overload and kidney lysosomes
    E Dimitriou
    Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Biochim Biophys Acta 1501:138-48. 2000
  3. ncbi request reprint Serum levels of neural protein S-100B in phenylketonuria
    Kleopatra H Schulpis
    Institute of Child Health, Aghia Sophia Children s Hospital, 11527 Athens, Greece
    Clin Biochem 37:76-9. 2004
  4. ncbi request reprint The association of serum lipids, lipoproteins and apolipoproteins with selected trace elements and minerals in phenylketonuric patients on diet
    Kleopatra H Schulpis
    Institute of Child Health, Aghia Sophia Children s Hospital, 11527 Athens, Greece
    Clin Nutr 23:401-7. 2004
  5. ncbi request reprint Maternal-neonatal retinol and alpha-tocopherol serum concentrations in Greeks and Albanians
    K H Schulpis
    Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Acta Paediatr 93:1075-80. 2004
  6. ncbi request reprint The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update
    H Michelakakis
    Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece
    J Inherit Metab Dis 27:705-6. 2004
  7. doi request reprint Sudden hearing loss in a family with GJB2 related progressive deafness
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Thivon and Levadias, 115 27 Athens, Greece
    Int J Pediatr Otorhinolaryngol 72:1735-40. 2008
  8. ncbi request reprint Non-syndromic, autosomal-recessive deafness
    M B Petersen
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Genet 69:371-92. 2006
  9. ncbi request reprint Homozygosity for the double D409H+H255Q allele in type II Gaucher disease
    Helen Michelakakis
    Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece
    J Inherit Metab Dis 29:591. 2006
  10. ncbi request reprint Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face
    C Sarri
    Genetics Department, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Cytogenet Genome Res 114:330-7. 2006

Collaborators

  • Leonidas Stefanis
  • Stylianos Tsakiris
  • T Antoniadi
  • Efthimios Dardiotis
  • Daniel Grinberg
  • Kostas Vekrellis
  • Maria Xilouri
  • Georgios M Hadjigeorgiou
  • George A Karikas
  • Laura Gort
  • Q Wang
  • A Weise
  • H Kokotas
  • S Sifakis
  • Elias Zintzaras
  • Maria Theodosiou
  • M B Petersen
  • Kleopatra H Schulpis
  • Marina Moraitou
  • Georgia Dermentzaki
  • E Manolakos
  • I Papoulidis
  • Evangelia Dimitriou
  • K H Schulpis
  • Anna Caciotti
  • Ioannis Monopolis
  • Assimina Argyriou
  • S Douzgou
  • V Velissariou
  • Joanna Tjamouranis
  • E Dimitriou
  • P J Willems
  • C Sarri
  • C Karadimas
  • I Labadaridis
  • Ioannis Papassotiriou
  • Smaragdi Fessatou
  • Johannes Aerts
  • Nick Dekker
  • ALESSANDRA D'AZZO
  • Licia Lugli
  • Carmen Rodriguez Perez
  • Amelia Morrone
  • Rodolfo Tonin
  • Renzo Guerrini
  • Maria Alice Donati
  • Serena Catarzi
  • Irene Mavridou
  • P Nicolaides
  • A B Hamid
  • A Garas
  • L Thomaidis
  • S Orru
  • T Liehr
  • M Kontodiou
  • I Saitis
  • A Vetro
  • U Kordass
  • P Peitsidis
  • N Kosyakova
  • M Eleftheriades
  • Themistoklis Papasilekas
  • Eleftherios Stamboulis
  • E Siomou
  • E Klein
  • M Tzimina
  • J Kunz
  • Lluisa Vilageliu
  • Georgia Xiromerisiou
  • Maria Bozi
  • Demitris Vassilatis
  • Constantina Reppa
  • Jasmin Sarafidou
  • Dimitrios Zafeiriou
  • Theodoros Marinakis
  • E Pandelia
  • M Grigoriadou
  • E Koumantakis
  • G Nasioulas
  • K Mrasek
  • Y Gyftodimou
  • A Hatzaki
  • S Kalogirou
  • P Valsamopoulos
  • C Makatsoris
  • Theodore Tsakiris
  • G Kafalidis
  • M Theodorakis
  • A Velegraki
  • C Lazaropoulou

Detail Information

Publications40

  1. pmc Galactosialidosis: review and analysis of CTSA gene mutations
    Anna Caciotti
    Laboratory for Molecular and Cell Biology, Paediatric Neurology Unit and Laboratories, Meyer Children s Hospital, Viale Pieraccini n, 24, Florence 50139, Italy
    Orphanet J Rare Dis 8:114. 2013
    ..Few clinical cases of GS have been reported in the literature, the majority of them belonging to the juvenile/adult group of patients...
  2. ncbi request reprint Iron overload and kidney lysosomes
    E Dimitriou
    Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Biochim Biophys Acta 1501:138-48. 2000
    ..Lysosomes became more fragile and showed increased density. The extent of the above changes seemed to correlate with the extent and duration of iron accumulation and could be reversed when the iron load was reduced...
  3. ncbi request reprint Serum levels of neural protein S-100B in phenylketonuria
    Kleopatra H Schulpis
    Institute of Child Health, Aghia Sophia Children s Hospital, 11527 Athens, Greece
    Clin Biochem 37:76-9. 2004
    ..Phenylketonuria (PKU) is a metabolic disorder characterized by high phenylalanine (Phe) levels in blood and foci of myelin absence in the CNS of untreated patients...
  4. ncbi request reprint The association of serum lipids, lipoproteins and apolipoproteins with selected trace elements and minerals in phenylketonuric patients on diet
    Kleopatra H Schulpis
    Institute of Child Health, Aghia Sophia Children s Hospital, 11527 Athens, Greece
    Clin Nutr 23:401-7. 2004
    ....
  5. ncbi request reprint Maternal-neonatal retinol and alpha-tocopherol serum concentrations in Greeks and Albanians
    K H Schulpis
    Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Acta Paediatr 93:1075-80. 2004
    ..Vitamin A and E are required in physiological processes such as pregnancy and growth...
  6. ncbi request reprint The expanding spectrum of disorders with elevated plasma chitotriosidase activity: an update
    H Michelakakis
    Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece
    J Inherit Metab Dis 27:705-6. 2004
    ....
  7. doi request reprint Sudden hearing loss in a family with GJB2 related progressive deafness
    Haris Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Thivon and Levadias, 115 27 Athens, Greece
    Int J Pediatr Otorhinolaryngol 72:1735-40. 2008
    ..We report an unusual family with four 35delG homozygous members, in which the parents were deaf-mute whilst both children had a postlingual progressive hearing loss. Furthermore, the son suffered from sudden hearing loss...
  8. ncbi request reprint Non-syndromic, autosomal-recessive deafness
    M B Petersen
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Genet 69:371-92. 2006
    ..Identification of all genes involved in hereditary hearing loss will help in our understanding of the basic mechanisms underlying normal hearing, in early diagnosis and therapy...
  9. ncbi request reprint Homozygosity for the double D409H+H255Q allele in type II Gaucher disease
    Helen Michelakakis
    Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece
    J Inherit Metab Dis 29:591. 2006
    ..The double D409H+H255Q allele was found in heterozygosity in Greek, Bulgarian and Argentinian patients but was not IDentified in any Spanish patients carrying the D409H mutation...
  10. ncbi request reprint Supernumerary marker chromosome 5 diagnosed by M-FISH in a child with congenital heart defect and unusual face
    C Sarri
    Genetics Department, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Cytogenet Genome Res 114:330-7. 2006
    ..As far as we know, eight similar cases have been published up to now. We describe a new case which, to our knowledge, is the first characterized in such detail. The role of uniparental disomy (UPD) in cases of SMC is also discussed...
  11. ncbi request reprint The effect of neonatal jaundice on biotinidase activity
    Kleopatra H Schulpis
    Institute of Child Health, Aghia Sophia Children s Hospital, 11527, Athens, Greece
    Early Hum Dev 72:15-24. 2003
    ..Jaundice is one of the most common and one of the vexing problems that can occur in newborns. A newborn screening test for biotinidase deficiency has been added to many national screening programmes...
  12. ncbi request reprint Effect of diet on plasma total antioxidant status in phenylketonuric patients
    K H Schulpis
    Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Eur J Clin Nutr 57:383-7. 2003
    ..Phenylketonuria (PKU), an inborn error of phenylalanine (Phe) metabolism, is treated with a low Phe lifelong diet, which is a vegetarian and contains many antioxidants...
  13. doi request reprint Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia
    Helen Michelakakis
    Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece
    Clin Chim Acta 401:81-3. 2009
    ..We report on the plasma activity of AGA and other lysosomal enzymes in patients with different types of primary and secondary CDG defects...
  14. ncbi request reprint Nondisjunction in trisomy 21: origin and mechanisms
    M B Petersen
    Department of Genetics, Institute of Child Health, Athens, Greece
    Cytogenet Cell Genet 91:199-203. 2000
    ..Advanced maternal age remains the only well documented risk factor for maternal meiotic nondisjunction, but there is, however, still a surprising lack of understanding of the basic mechanisms behind the maternal age effect...
  15. ncbi request reprint Early-onset severe neurological involvement and D409H homozygosity in Gaucher disease: outcome of enzyme replacement therapy
    H Michelakakis
    Department of Enzymology and Cellular Function, Ag Sophia Children s Hospital, 11527 Athens, Greece
    Blood Cells Mol Dis 28:1-4. 2002
    ..Enzyme replacement therapy, while improving the hematological parameters and organomegaly, failed to improve or even arrest the neurological condition...
  16. ncbi request reprint Non-syndromic autosomal-dominant deafness
    M B Petersen
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, GR 11527 Athens, Greece
    Clin Genet 62:1-13. 2002
    ....
  17. ncbi request reprint Acetylcholinesterase activity and biogenic amines in phenylketonuria
    Kleopatra H Schulpis
    Institute of Child Health, Aghia Sophia Children s Hospital, 11527 Athens, Greece
    Clin Chem 48:1794-6. 2002
  18. ncbi request reprint Serum S100B levels in X-linked adrenoleukodystrophy and Gaucher disease
    H Michelakakis
    Enzymology and Cellular Function Department, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    J Inherit Metab Dis 30:822. 2007
    ..Our results indicate that serum S100B levels cannot serve as peripheral marker in the evaluation of brain disease in X-ALD and GD...
  19. pmc Loss of β-glucocerebrosidase activity does not affect alpha-synuclein levels or lysosomal function in neuronal cells
    Georgia Dermentzaki
    Division of Basic Neurosciences, Biomedical Research Foundation of the Academy of Athens, Athens, Greece
    PLoS ONE 8:e60674. 2013
    ..We further observed no significant impairment of the lysosomal degradation machinery. These findings suggest that additional interaction pathways together with aberrant GCase and ASYN must govern this complex relation between GD and PD...
  20. ncbi request reprint Mutation analysis of the GJB2 (connexin 26) gene by DGGE in Greek patients with sensorineural deafness
    T Antoniadi
    Department of Genetics and Molecular Biology, Mitera Maternity and Surgical Center, Athens, Greece
    Hum Mutat 16:7-12. 2000
    ..A novel sequence variation, K224Q, was identified as the sole mutation in one patient. Use of this approach may contribute to the full description of mutations in this important deafness gene...
  21. ncbi request reprint In vivo effects of high phenylalanine blood levels on Na+,K+-ATPase, Mg2+-ATPase activities and biogenic amine concentrations in phenylketonuria
    Kleopatra H Schulpis
    Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Biochem 35:281-5. 2002
    ....
  22. ncbi request reprint Erythrocyte membrane acetylcholinesterase, Na+, K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia
    Stylianos Tsakiris
    Department of Experimental Physiology, Medical School, University of Athens, and Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Acta Paediatr 94:1223-6. 2005
    ..Classical galactosaemia is commonly presented by high blood galactose (Gal) and galactose-1-phosphate (Gal-1-P) levels followed by mental retardation, seizures, etc. dependent on the mutation of the patients...
  23. doi request reprint Evidence of an association between the scavenger receptor class B member 2 gene and Parkinson's disease
    Helen Michelakakis
    Department of Enzymology and Cellular Function, Institute of Child Health, Aghia Sophidara Children s Hospital, Athens, Greece
    Mov Disord 27:400-5. 2012
    ..56-0.90). Haplotype analysis showed an association for the GCGGT haplotype (P < .01). Our study supports a genetic contribution of the SCARB2 locus to PD; future studies in larger cohorts are necessary to verify this finding...
  24. doi request reprint Plasmalogen levels in Gaucher disease
    Marina Moraitou
    Department of Enzymology and Cellular Function, Institute of Child Health, Athens 11527, Greece
    Blood Cells Mol Dis 41:196-9. 2008
    ..In conclusion, reduced plasmalogen levels that show a significant rise following treatment and a negative correlation to total disease burden, as expressed by chitotriosidase activity, are observed in Gaucher disease...
  25. ncbi request reprint The effect of diet on total antioxidant status, erythrocyte membrane Na+,K+-ATPase and Mg2+-ATPase activities in patients with classical galactosaemia
    Kleopatra H Schulpis
    Institute of Child Health, Aghia Sophia Children s Hospital, GR 11527 Athens, Greece
    Clin Nutr 24:151-7. 2005
    ..The aim of this study was to evaluate the erythrocyte membrane Na+,K+-ATPase and Mg2+-ATPase activities in galactosaemic patients and to correlate them to Gal-1-P, total antioxidant status (TAS) and membrane protein content (PC)...
  26. ncbi request reprint Prenatal diagnosis of hypochondroplasia: report of two cases
    C Karadimas
    Department of Genetics and Molecular Biology, Mitera Maternity and Surgical Center, Athens, Greece
    Am J Med Genet A 140:998-1003. 2006
    ..We conclude that the combination of ultrasound and molecular genetic approach is helpful for establishing an accurate diagnosis of HCH in utero and subsequently for appropriate genetic counseling and perinatal management...
  27. ncbi request reprint Prenatal diagnosis of prelingual deafness: carrier testing and prenatal diagnosis of the common GJB2 35delG mutation
    T Antoniadi
    Department of Genetics and Molecular Biology, MITERA' Maternity and Surgical Center, Athens, Greece
    Prenat Diagn 21:10-3. 2001
    ..The description of this common mutation has opened the way to prenatal diagnosis of prelingual deafness, and we here describe our experience with 29 couples requesting counseling, carrier testing and prenatal diagnosis of DFNB1 deafness...
  28. ncbi request reprint Prenatal diagnosis of two rare de novo structural aberrations of the Y chromosome: cytogenetic and molecular analysis
    V Velissariou
    Cytogenetics Laboratory, Department of Genetics and Molecular Biology, Mitera Maternity and Surgical Center, Athens, Greece
    Prenat Diagn 21:484-7. 2001
    ..The clinical significance of these findings is discussed...
  29. doi request reprint Increased dimerization of alpha-synuclein in erythrocytes in Gaucher disease and aging
    Assimina Argyriou
    Division of Basic Neurosciences, Biomedical Research Foundation of the Academy of Athens, Athens, Greece
    Neurosci Lett 528:205-9. 2012
    ..Therefore, two major risk factors for PD, aging and GD status, are associated with an increased AS dimer to monomer ratio in erythrocytes. This ratio needs to be validated in further studies as a potential biomarker for PD risk...
  30. ncbi request reprint Sex-linked deafness
    M B Petersen
    Department of Genetics, Institute of Child Health, Athens, Greece
    Clin Genet 73:14-23. 2008
    ..This study reviews the different sex-linked genes and loci on the X- and Y chromosome leading to syndromic and especially non-syndromic hearing loss...
  31. ncbi request reprint Gaucher disease: plasmalogen levels in relation to primary lipid abnormalities and oxidative stress
    Marina Moraitou
    Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece
    Blood Cells Mol Dis 53:30-3. 2014
    ..They demonstrate a clear link between plasmalogen levels and the primary glycolipid abnormalities characterizing the disorder and an association with the increased oxidative stress observed in Gaucher disease patients. ..
  32. doi request reprint β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease
    Marina Moraitou
    Department of Enzymology and Cellular Function, Institute of Child Health, Athens, Greece
    Mol Genet Metab 104:149-52. 2011
    ..Qualitative differences regarding the type of mutations and/or their relative frequencies were observed between cohorts A and B of PD patients. Genetic and/or environmental factors may account for the observed differences...
  33. ncbi request reprint Late onset ornithine transcarbamylase deficiency: a case report
    Smaragdi Fessatou
    Second Department of Pediatrics, P and A Kyriakou Children s Hospital, Athens, Greece
    Pediatr Pathol Mol Med 22:153-7. 2003
    ..We describe the only male with T343K mutation, which also is present in his mother. We underline the disorientation of the beginning of clinical presentation; the patient became ill when fruits were added to his diet...
  34. doi request reprint Tetrasomy 9p mosaicism associated with a normal phenotype in two cases
    I Papoulidis
    Eurogenetica S A, Thessaloniki and Athens, Greece
    Cytogenet Genome Res 136:237-41. 2012
    ..STR analysis performed on this complex mosaic case indicated that the extra isochromosome was of maternal origin while the X chromosome aneuploidy was of paternal origin, indicating a postzygotic event...
  35. ncbi request reprint Mitochondrial deafness
    H Kokotas
    Department of Genetics, Institute of Child Health, Athens, Greece
    Clin Genet 71:379-91. 2007
    ..This study reviews the different mitochondrial mutations, leading to syndromic and especially non-syndromic deafness...
  36. ncbi request reprint First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review
    E Manolakos
    Laboratory of Genetics, Eurogenetica, Athens, Greece
    Clin Exp Obstet Gynecol 39:118-21. 2012
    ..Our case emphasizes the importance of a detailed 11-14 week ultrasound assessment in diagnosing fetal chromosomal aberrations in combination with the modern aspects of array CGH, thus providing more precise and rapid prenatal diagnosis...
  37. doi request reprint Clinical and molecular aspects of aniridia
    H Kokotas
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Genet 77:409-20. 2010
    ..Here we review the data regarding the mechanisms and the mutations that relate to aniridia...
  38. doi request reprint Clinical variability of genetic isolates of Cohen syndrome
    S Douzgou
    Department of Genetics, Institute of Child Health, Aghia Sophia Children s Hospital, Athens, Greece
    Clin Genet 79:501-6. 2011
    ....
  39. ncbi request reprint A simple and effective approach for detecting maternal cell contamination in molecular prenatal diagnosis
    T Antoniadi
    Laboratory of Molecular Biology, Department of Genetics and Molecular Biology, Mitera Maternity and Surgical Center, Athens, Greece
    Prenat Diagn 22:425-9. 2002
    ..The choice of the appropriate locus is therefore essential, while the simultaneous screening of both parents provides the means for distinguishing non-informative sites about MCC...
  40. pmc Chitotriosidase in neonates with fungal and bacterial infections
    I Labadaridis
    Institute of Child Health, Agia Sophia Children s Hospital, 11527 Athens, Greece
    Arch Dis Child Fetal Neonatal Ed 90:F531-2. 2005
    ..Increased levels were also found in neonates with bacterial infection. Chitotriosidase activity increase is not a response specific to fungi, but serial assays could monitor the course of neonatal fungal infection...