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  • Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease 

    Carss, KJ; Arno, G; Erwood, M; Stephens, J; Sanchis-Juan, A; Hull, S; Megy, K et al. (Elsevier (Cell Press), 2017-01-05)
    Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who ...
  • The $\textit{Shigella }$ Virulence Factor IcsA Relieves N-WASP Autoinhibition by Displacing the Verprolin Homology/Cofilin/Acidic (VCA) Domain 

    Mauricio, RPM; Jeffries, CM; Svergun, DI; Deane, JE (American Society for Biochemistry and Molecular Biology Inc., 2017-01-06)
    $\textit{Shigella flexneri}$ is a bacterial pathogen that invades cells of the gastrointestinal tract, causing severe dysentery. $\textit{Shigella }$ mediates intracellular motility and spreading via actin comet tail ...
  • The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C 

    Ho, AK; Wagstaff, JL; Manna, PT; Wartosch, L; Qamar, S; Garman, EF; Freund, SMV et al. (BioMed Central, 2016-12-07)
    BACKGROUND: Mutations in Lipopolysaccharide-induced tumour necrosis factor-α factor (LITAF) cause the autosomal dominant inherited peripheral neuropathy, Charcot-Marie-Tooth disease type 1C (CMT1C). LITAF encodes a 17 kDa ...
  • CCT complex restricts neuropathogenic protein aggregation via autophagy 

    Pavel, M; Imarisio, S; Menzies, FM; Jimenez-Sanchez, M; Siddiqi, FH; Wu, X; Renna, M et al. (Nature Publishing Group, 2016-12-01)
    Aberrant protein aggregation is controlled by various chaperones, including CCT (chaperonin containing TCP-1)/TCP-1/TRiC. Mutated CCT4/5 subunits cause sensory neuropathy and CCT5 expression is decreased in Alzheimer's ...

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