Ontology highlight
ABSTRACT:
SUBMITTER: Fassier C
PROVIDER: S-EPMC3529340 | biostudies-literature | 2013 Jan
REPOSITORIES: biostudies-literature
Fassier Coralie C Tarrade Anne A Peris Leticia L Courageot Sabrina S Mailly Philippe P Dalard Cécile C Delga Stéphanie S Roblot Natacha N Lefèvre Julien J Job Didier D Hazan Jamilé J Curmi Patrick A PA Melki Judith J
Disease models & mechanisms 20120705 1
Mutations in SPG4, encoding the microtubule-severing protein spastin, are responsible for the most frequent form of hereditary spastic paraplegia (HSP), a heterogeneous group of genetic diseases characterized by degeneration of the corticospinal tracts. We previously reported that mice harboring a deletion in Spg4, generating a premature stop codon, develop progressive axonal degeneration characterized by focal axonal swellings associated with impaired axonal transport. To further characterize t ...[more]