UNDERSTANDING THE PATHOGENESIS OF HEREDITARY SPASTIC PARAPLEGIA DUE TO PARAPLEGIN DEFICIENCY
- 2 Years 2003/2005
- 92.800€ Total Award
Hereditary spastic paraplegia is characterized by weakness and rigidity of the lower limbs and has no effective cure. We propose to use a mouse model we developed for this disease to investigate its cause and develop new therapies.
Scientific Publications
- 2001 CURRENT OPINION IN GENETICS & DEVELOPMENT
Molecular basis of inherited spastic paraplegias
- 2005 ARCHIVES ITALIENNES DE BIOLOGIE
Factors involved in the migration of neuroendocrine hypothalamic neurons
- 2004 HUMAN MOLECULAR GENETICS
Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon
- 2004 ARCHIVES OF NEUROLOGY
Hereditary spastic paraplegia - Clinical genetic study of 15 families
- 2006 JOURNAL OF CLINICAL INVESTIGATION
Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia
