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

Data inizio
1 gennaio 2016
Durata (mesi) 
36
Dipartimenti
Neuroscienze, Biomedicina e Movimento
Responsabili (o referenti locali)
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).
 

Enti finanziatori:

COMITATO TELETHON FONDAZIONE ONLUS - FONDAZIONE TELETHON
Finanziamento: assegnato e gestito dal Dipartimento

Partecipanti al progetto

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

Attività

Strutture