Now showing items 1-6 of 6

    • Conditional control of fluorescent protein degradation by an auxin-dependent nanobody. 

      Daniel, K; Icha, J; Horenburg, C; Müller, D; Norden, C; Mansfeld, J (2018-08-17)
      The conditional and reversible depletion of proteins by auxin-mediated degradation is a powerful tool to investigate protein functions in cells and whole organisms. However, its wider applications require fusing the ...
    • Distinct Levels of Reactive Oxygen Species Coordinate Metabolic Activity with Beta-cell Mass Plasticity. 

      Ahmed Alfar, E; Kirova, D; Konantz, J; Birke, S; Mansfeld, J; Ninov, N (2017-06-26)
      The pancreatic beta-cells control glucose homeostasis by secreting insulin in response to nutrient intake. The number of beta-cells is under tight metabolic control, as this number increases with higher nutrient intake. ...
    • 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 ...
    • Rare disruptive mutations in ciliary function genes contribute to testicular cancer susceptibility. 

      Litchfield, K; Levy, M; Dudakia, D; Proszek, P; Shipley, C; Basten, S; Rapley, E; Bishop, DT; Reid, A; Huddart, R; Broderick, P; Castro, DGD; O'Connor, S; Giles, RH; Houlston, RS; Turnbull, C (2016-12-20)
      Testicular germ cell tumour (TGCT) is the most common cancer in young men. Here we sought to identify risk factors for TGCT by performing whole-exome sequencing on 328 TGCT cases from 153 families, 634 sporadic TGCT cases ...
    • 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 ...