Biochemical Genetics Department

Research
The research programmes of the Department of Biochemical Genetics have mainly focused on the epidemiology of inherited metabolic disorders in Cyprus and their characterization at the biochemical and molecular level. Among the disorders that have been extensively studied are Sandhoff disease, Tay-Sachs disease, GM1 Gangliosidosis, G-6-PD deficiency, Maple Syrup Urine Disease, Ethylmalonic Encephalopathy, Phenylketonuria, Galactosaemia and Glutaric Aciduria type I (see selected publications).
 
Ongoing Research Projects
 
•New insights into glycogen metabolism
- Intracellular synthesis and trafficking 
- Role in muscle differentiation and regeneration
- Significance in pathological conditions
 
•The function of acid ceramidase in motor neurons and its association with Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME).

Selected Publications

  Acid Ceramidase Depletion Impairs Neuronal Survival and Induces Morphological Defects in Neurites Associated with Altered Gene Transcription and ...

Ερευνητικό Πρόγραμμα - Διερεύνηση μεταλλάξεων στο γονίδιο της νόσου GAUCHER (GBA1) σε ασθενείς με Πάρκινσον

Το συγκεκριμένο ερευνητικό πρόγραμμα έχει εγκριθεί από την Εθνική Επιτροπή Βιοηθικής Κύπρου.

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