Article
Pathogenic TFG Mutations Underlying Hereditary Spastic Paraplegia Impair Secretory Protein Trafficking and Axon Fasciculation.
Cell reports - 28 Aug 2018
Slosarek Erin L, Schuh Amber L, Pustova Iryna, Johnson Adam, Bird Jennifer, Johnson Matthew, Frankel E B, Bhattacharya Nilakshee, Hanna Michael G, Burke Jordan E, Ruhl David A, Quinney Kyle, Block Samuel, Peotter Jennifer L, Chapman Edwin R, Sheets Michael D, Butcher Samuel E, Stagg Scott M, Audhya Anjon
Abstract excerpt
Length-dependent axonopathy of the corticospinal tract causes lower limb spasticity and is characteristic of several neurological disorders, including hereditary spastic paraplegia (HSP) and amyotrophic lateral sclerosis. Mutations in Trk-fused gene (TFG) have been implicated in both diseases, but the pathomechanisms by which these alterations cause neuropathy remain unclear. Here, we biochemically and...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.