Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans SP Robertson, SRF Twigg, AJ Sutherland-Smith, V Biancalana, RJ Gorlin, ... Nature genetics 33 (4), 487-491, 2003 | 473 | 2003 |
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development S Cappello, MJ Gray, C Badouel, S Lange, M Einsiedler, M Srour, ... Nature genetics 45 (11), 1300-1308, 2013 | 256 | 2013 |
The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy FLM Norwood, AJ Sutherland-Smith, NH Keep, J Kendrick-Jones Structure 8 (5), 481-491, 2000 | 230 | 2000 |
Craniosynostosis and multiple skeletal anomalies in humans and zebrafish result from a defect in the localized degradation of retinoic acid K Laue, HM Pogoda, PB Daniel, A van Haeringen, Y Alanay, S von Ameln, ... The American Journal of Human Genetics 89 (5), 595-606, 2011 | 188 | 2011 |
Binding of ruthenium (III) anti-tumor drugs to human lactoferrin probed by high resolution X-ray crystallographic structure analyses CA Smith, AJ Sutherland-Smith, Bernhard K. Keppler, F Kratz, EN Baker, ... JBIC Journal of Biological Inorganic Chemistry 1, 424-431, 1996 | 162 | 1996 |
An atomic model for actin binding by the CH domains and spectrin-repeat modules of utrophin and dystrophin AJ Sutherland-Smith, CA Moores, FLM Norwood, V Hatch, R Craig, ... Journal of molecular biology 329 (1), 15-33, 2003 | 91 | 2003 |
Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders AR Clark, GM Sawyer, SP Robertson, AJ Sutherland-Smith Human Molecular Genetics 18 (24), 4791-4800, 2009 | 85 | 2009 |
Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the … GM Sawyer, AR Clark, SP Robertson, AJ Sutherland-Smith Journal of molecular biology 390 (5), 1030-1047, 2009 | 70 | 2009 |
Mutations in MAP3K7 that alter the activity of the TAK1 signaling complex cause frontometaphyseal dysplasia EM Wade, PB Daniel, ZA Jenkins, A McInerney-Leo, P Leo, T Morgan, ... The American Journal of Human Genetics 99 (2), 392-406, 2016 | 68 | 2016 |
The crystal structures of dystrophin and utrophin spectrin repeats: implications for domain boundaries M Muthu, KA Richardson, AJ Sutherland-Smith PloS one 7 (7), e40066, 2012 | 49 | 2012 |
Expression and role in glycolysis of human ADP-dependent glucokinase S Richter, JP Richter, SY Mehta, AM Gribble, AJ Sutherland-Smith, ... Molecular and cellular biochemistry 364, 131-145, 2012 | 39 | 2012 |
DNA sequence analysis for structure/function and mutation studies in Becker muscular dystrophy SA Hamed, AJ Sutherland‐Smith, JRM Gorospe, J Kendrick‐Jones, ... Clinical genetics 68 (1), 69-79, 2005 | 39 | 2005 |
Characterization of a dual-function domain that mediates membrane insertion and excision of Ff filamentous bacteriophage NJ Bennett, D Gagic, AJ Sutherland-Smith, J Rakonjac Journal of molecular biology 411 (5), 972-985, 2011 | 30 | 2011 |
The Emery–Dreifuss muscular dystrophy associated‐protein emerin is phosphorylated on serine 49 by protein kinase A RC Roberts, AJ Sutherland‐Smith, MA Wheeler, O Norregaard Jensen, ... The FEBS journal 273 (19), 4562-4575, 2006 | 30 | 2006 |
In silico resurrection of the major vault protein suggests it is ancestral in modern eukaryotes TK Daly, AJ Sutherland-Smith, D Penny Genome biology and evolution 5 (8), 1567-1583, 2013 | 27 | 2013 |
An open or closed case for the conformation of calponin homology domains on F-actin? W Lehman, R Craig, J Kendrick-Jones, AJ Sutherland-Smith Journal of Muscle Research & Cell Motility 25, 351-358, 2004 | 25 | 2004 |
The structural and functional characterization of mammalian ADP-dependent glucokinase JP Richter, AK Goroncy, RS Ronimus, AJ Sutherland-Smith Journal of Biological Chemistry 291 (8), 3694-3704, 2016 | 24 | 2016 |
Structure and evolution of the archaeal lipid synthesis enzyme sn-glycerol-1-phosphate dehydrogenase V Carbone, LR Schofield, Y Zhang, C Sang, D Dey, IM Hannus, WF Martin, ... Journal of Biological Chemistry 290 (35), 21690-21704, 2015 | 24 | 2015 |
Filamin structure, function and mechanics: are altered filamin-mediated force responses associated with human disease? AJ Sutherland-Smith Biophysical reviews 3 (1), 15-23, 2011 | 24 | 2011 |
Cytotoxic aggregation and amyloid formation by the myostatin precursor protein CS Starck, AJ Sutherland-Smith PLoS One 5 (2), e9170, 2010 | 24 | 2010 |