Now showing items 1-3 of 3

    • Evolution of complexity in the zebrafish synapse proteome. 

      Bayés, À; Collins, MO; Reig-Viader, R; Gou, G; Goulding, D; Izquierdo, A; Choudhary, JS; Emes, RD; Grant, SGN (2017-03-02)
      The proteome of human brain synapses is highly complex and is mutated in over 130 diseases. This complexity arose from two whole-genome duplications early in the vertebrate lineage. Zebrafish are used in modelling human ...
    • Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy. 

      Lee, Y-R; Khan, K; Armfield-Uhas, K; Srikanth, S; Thompson, NA; Pardo, M; Yu, L; Norris, JW; Peng, Y; Gripp, KW; Aleck, KA; Li, C; Spence, E; Choi, T-I; Kwon, SJ; Park, H-M; Yu, D; Do Heo, W; Mooney, MR; Baig, SM; Wentzensen, IM; Telegrafi, A; McWalter, K; Moreland, T; Roadhouse, C; Ramsey, K; Lyons, MJ; Skinner, C; Alexov, E; Katsanis, N; Stevenson, RE; Choudhary, JS; Adams, DJ; Kim, C-H; Davis, EE; Schwartz, CE (2020-07-23)
      Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense variants in the original Armfield XLID syndrome ...
    • RET recognition of GDNF-GFRα1 ligand by a composite binding site promotes membrane-proximal self-association. 

      Goodman, KM; Kjær, S; Beuron, F; Knowles, PP; Nawrotek, A; Burns, EM; Purkiss, AG; George, R; Santoro, M; Morris, EP; McDonald, NQ (2014-09-18)
      The RET receptor tyrosine kinase is essential to vertebrate development and implicated in multiple human diseases. RET binds a cell surface bipartite ligand comprising a GDNF family ligand and a GFRα coreceptor, resulting ...