Select Publications
Conference Abstracts
2014, 'Mechanically-Induced Gating in PKD2L1 (Trpp2): Calcium-Induced Activation Masquerading as Force Sensitivity?', in BIOPHYSICAL JOURNAL, CELL PRESS, CA, San Francisco, Vol. 112, pp. 311A - 311A, presented at 58th Annual Meeting of the Biophysical-Society, CA, San Francisco, 15 February 2014 - 19 February 2014, http://dx.doi.org/10.1016/j.bpj.2016.11.1686
,2012, 'Bimodal Regulation of hERG Gating by the N-Terminal Tail Revealed by Voltage Clamp Fluorometry', in BIOPHYSICAL JOURNAL, CELL PRESS, CA, San Diego, Vol. 102, pp. 328A - 328A, presented at 56th Annual Meeting of the Biophysical-Society, CA, San Diego, 25 February 2012 - 29 February 2012, http://dx.doi.org/10.1016/j.bpj.2011.11.1800
,2012, 'Domain Misfolding and Destabilisation of Domain–Domain Interactions Both Contribute to Defective Trafficking of hERG EAG Domain Mutant Channels', in Heart, Lung and Circulation, Vol. 21, pp. 860 - 861, http://dx.doi.org/10.1016/j.hlc.2012.08.025
,'The role of in vitro phenotypes for clinical risk stratification of sudden death in Long QT Syndrome Type 2', in Heart, Lung and Circulation, Elsevier, Vol. 24, pp. S232 - S233, presented at Heart, Lung and Circulation, http://dx.doi.org/10.1016/j.hlc.2015.06.289
,Datasets
2016, Faculty Opinions recommendation of Tetrameric Assembly of K+ Channels Requires ER-Located Chaperone Proteins., http://dx.doi.org/10.3410/f.727072588.793526218
,Working Papers
2023, Multi-site validation of a functional assay to adjudicate SCN5A Brugada Syndrome-associated variants., http://dx.doi.org10.1101/2023.12.19.23299592, https://www.ncbi.nlm.nih.gov/pubmed/38196587
,Preprints
2024, Multiplexed Assays of Variant Effect and Automated Patch-clamping Improve KCNH2-LQTS Variant Classification and Cardiac Event Risk Stratification., http://dx.doi.org/10.1101/2024.02.01.24301443
,2023, Potassium dependent structural changes in the selectivity filter of HERG potassium channels, http://dx.doi.org/10.1101/2023.12.14.571769
,2023, Clinical interpretation ofKCNH2variants using a robust PS3/BS3 functional patch clamp assay, http://dx.doi.org/10.1101/2023.10.08.23296707
,2022, Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance, http://dx.doi.org/10.1101/2022.08.05.502917
,2021, A calibrated functional patch clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome, http://dx.doi.org/10.1101/2021.12.13.472492
,2021, Structural Basis for Rapid Voltage Dependent Inactivation of HERG Potassium Channels, http://dx.doi.org/10.21203/rs.3.rs-1105661/v1
,2020, Modified N-linked glycosylation status predicts trafficking defective human Piezo1 channel mutations, http://dx.doi.org/10.1101/2020.11.30.404962
,2020, High-throughput discovery of trafficking-deficient variants in the cardiac potassium channelKCNH2: Deep mutational scan ofKCNH2trafficking, http://dx.doi.org/10.1101/2020.02.17.952606
,Other
2012, Solution nmr structure of the S4S5 linker of herg potassium channel, Worldwide Protein Data Bank, http://dx.doi.org/10.2210/pdb2le7/pdb
,2011, Solution NMR structure of the N-terminal PAS domain of HERG potassium channel, Worldwide Protein Data Bank, http://dx.doi.org/10.2210/pdb2l0w/pdb
,2007, Structure Characterisation of PINA WW Domain and Comparison with other Group IV WW Domains, PIN1 and ESS1, Worldwide Protein Data Bank, http://dx.doi.org/10.2210/pdb2jv4/pdb
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