Ontology highlight
ABSTRACT:
SUBMITTER: Slosarek EL
PROVIDER: S-EPMC6152936 | biostudies-literature | 2018 Aug
REPOSITORIES: biostudies-literature
Slosarek Erin L EL Schuh Amber L AL Pustova Iryna I Johnson Adam A Bird Jennifer J Johnson Matthew M Frankel E B EB Bhattacharya Nilakshee N Hanna Michael G MG Burke Jordan E JE Ruhl David A DA Quinney Kyle K Block Samuel S Peotter Jennifer L JL Chapman Edwin R ER Sheets Michael D MD Butcher Samuel E SE Stagg Scott M SM Audhya Anjon A
Cell reports 20180801 9
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 genetically define the impact of a mutation within the TFG coiled-coil domain, which underlies ...[more]