Project data
Funding Entity: AFM (Association Française contre les Myopathies) -Telethon
Call: Multi-round Call for Research Projects 2022 Fondazione Telethon
Coordinator: Università di Siena (Italy)
UNISI Principal Investigator: Prof. Daniela Rossi
Department: Department of Molecular and Developmental Medicine (DMMS)
Start date: 1 September 2023
End date: 1 September 2025
Description
The overall objective of this proposal is to obtain initial relevant information on the biological role of CCDC78 role in skeletal muscle.
CCDC78 is a poorly known protein, mostly studied in non-mammalian vertebrates.
In humans, a mutation in CCDC78 has been shown to cause an atypical form of centronuclear myopathy with cores.
The function of the CCDC78 protein in mammalian cells and, given its role in human myopathy, particularly in mammalian skeletal muscle fibers is largely unknown.
This project has received funding from Telethon Foundation under Multi Center round 2022 call