Gene therapy research group

The group works at the National Public Health Institute in Helsinki and is lead by Dr. Anu Jalanko.

 

This research group is concentrating on the functional research of three recessive neurodegenerative disorders: aspartylglucosaminuria (AGU), infantile neuronal ceroid lipofuscinosis (INCL) and Batten disease. The cellular biology under these three diseases needs first to be clarified and in the case of AGU we already have studied the cell biology of the normal and mutated aspartylglucosaminidase (AGA) enzyme.

Furthermore, the research group has developed a knock-out mouse model for AGU, which has enabled the research of disease pathogenesis. In the case of INCL and Batten disease the initial cell biological studies of the INCL enzyme palmitoyl protein thioesterase (PPT) and Batten protein "battenin" have been started. The group continues in clarifying the neuronal cell biology of these diseases.

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