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The expanding spectrum of disorders with elevated plasma chitotriosidase activity:An update
- H. Michelakakis, E. Dimitriou, I. Labadaridis
- Biology, MedicineJournal of Inherited Metabolic Disease
- 1 September 2004
Increased plasma chitotriosidase activity was also observed in fucosidosis, glycogen storage disease type IV, Alagille syndrome and hydrops fetalis due to congenital herpes virus infection.
Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells
- Georgia Dermentzaki, E. Dimitriou, M. Xilouri, H. Michelakakis, L. Stefanis
- BiologyPloS one
- 8 April 2013
Investigating the effects of pharmacological inhibition of GCase on ASYN accumulation/aggregation, as well as on lysosomal function, in differentiated SH-SY5Y cells and in primary neuronal cultures suggests that additional interaction pathways together with aberrant GCase and ASYN must govern this complex relation between GD and PD.
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele
The detrimental cumulative effect of these two mutations at the enzymatic activity level by the heterologous expression of the single and double mutant alleles is confirmed.
Gaucher disease: plasmalogen levels in relation to primary lipid abnormalities and oxidative stress.
Plasma lysosomal enzyme activities in congenital disorders of glycosylation, galactosemia and fructosemia.
The Spectrum of Niemann-Pick Type C Disease in Greece.
Clinical, biochemical, and molecular findings in 14 cases diagnosed in Greece during the last 28 years ofiemann-Pick type C disease, a neurovisceral lysosomal storage disease caused by mutations in either the NPC1 or the NPC2 gene are presented.
Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow-up of hereditary fructose intolerance.
Plasma tumor necrosis factor-a (TNF-a) levels in Gaucher disease.
Chitotriosidase in neonates with fungal and bacterial infections
- I. Labadaridis, E. Dimitriou, M. Theodorakis, G. Kafalidis, A. Velegraki, H. Michelakakis
- Medicine, BiologyArchives of Disease in Childhood - Fetal and…
- 21 October 2005
Increased plasma and/or urine chitotriosidase activity was found in neonates withFungal infection changing in parallel with their clinical condition, and serial assays could monitor the course of neonatal fungal infection.
Early-onset severe neurological involvement and D409H homozygosity in Gaucher disease: outcome of enzyme replacement therapy.
- H. Michelakakis, A. Skardoutsou, T. Karpathios
- Medicine, BiologyBlood cells, molecules & diseases
The first Greek patient bearing the D409H/D409H genotype with onset of the disease in the first months of life and a phenotype dominated by severe neurological involvement is reported, indicating enzyme replacement therapy, while improving the hematological parameters and organomegaly, failed to improve or even arrest the neurological condition.