Comprehensive analysis of the molecular pathogenesis of gyrate atrophy towards the rationalization and the optimization of the therapy with vitamin B6

Starting date
January 1, 2016
Duration (months)
36
Departments
Neurosciences, Biomedicine and Movement Sciences
Managers or local contacts
Cellini Barbara

OBIETTIVI
The objective is the understanding of the molecular pathogenesis and the evaluation of the efficacy of the treatment with B6 vitamers of gyrate atrophy (GA), a rare disease due to mutations in the gene encoding the pyridoxal 5'-phosphate-dependent enzyme ornithine aminotransferase (OAT).
OBIETTIVI
The objective is the understanding of the molecular pathogenesis and the evaluation of the efficacy of the treatment with B6 vitamers of gyrate atrophy (GA), a rare disease due to mutations in the gene encoding the pyridoxal 5'-phosphate-dependent enzyme ornithine aminotransferase (OAT).
OBIETTIVI
The objective is the understanding of the molecular pathogenesis and the evaluation of the efficacy of the treatment with B6 vitamers of gyrate atrophy (GA), a rare disease due to mutations in the gene encoding the pyridoxal 5'-phosphate-dependent enzyme ornithine aminotransferase (OAT).
 

Sponsors:

COMITATO TELETHON FONDAZIONE ONLUS - FONDAZIONE TELETHON
Funds: assigned and managed by the department

Project participants

Collaboratori esterni

Leonardo Salviati
UniPD
Peter T. Clayton
University College London
Matthias Wilmanns
EMBL Hamburg
Christopher J Danpure
University College London
Rafael Artuch
Hospital Universitari Sant Joan de Dieu BARCELONA SPAIN
Fabien Pierrel
CEA GRENOBLE FRANCE

Activities

Research facilities