Recent publications
Article
Leinhos, L, Robinson, P, Poloni, G, Broadway-Stringer, S, Beglov, J, Lokman, AB, Douglas, G, Nuthay, S, Fonseka, O, Schmid, M, Singer, E, Hooper, C, Thomson, K, Bagnall, RD, Ingles, J, Semsarian, C, Ormondroyd, E, Toepfer, CN, Davies, B, Redwood, CR, Watkins, H & Gehmlich, K 2025, 'An ALPK3 truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten', Scientific Reports.
Wang, Z, Cao, G, Collier, MP, Qiu, X, Broadway-Stringer, S, Šaman, D, Ng, JZY, Sen, N, Azad, A, Hooper, C, Zimmerman, J, McDonough, MA, Brem, J, Rabe, P, Song, H, Alderson, TR, Schofield, CJ, Bolla, JR, Djinovic-Carugo, K, Fürst, DO, Warscheid, B, Degiacomi, MT, Allison, TM, Hochberg, GKA, Robinson, CV, Gehmlich, K & Benesch, JLP 2025, 'Filamin C dimerisation is regulated by HSPB7', Nature Communications.
Chunthorng-Orn, J, Noureddine, M, Dawson, P, Lord, SO, Ng, J, Boyton, L, Gehmlich, K, Mohammed, F & Lai, Y-C 2025, 'HCM‐Associated MuRF1 Variants Compromise Ubiquitylation and Are Predicted to Alter Protein Structure', International Journal of Molecular Sciences.
Noureddine, M, Mikolajek, H, Morgan, N, Denning, C, Loughna, S, Gehmlich, K & Mohammed, F 2025, 'Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease', Journal of General Physiology, vol. 157, no. 2, e202413684. https://doi.org/10.1085/jgp.202413684
Roy, A, Cumberland, M, O'Shea, C, Holmes, A, Kalla, M, Gehmlich, K, Geberhiwot, T & Steeds, R 2024, 'Arrhythmogenesis in Fabry Disease', Current cardiology reports. https://doi.org/10.1007/s11886-024-02053-2
Patel, L, Roy, A, Barlow, J, O'Shea, C, Nieves, D, Azad, A, Hall, C, Davies, B, Rath, P, Pavlovic, D, Chikermane, A, Geberhiwot, T, Steeds, R & Gehmlich, K 2024, 'Characterisation of infantile cardiomyopathy in Alström Syndrome using ALMS1 Knockout induced pluripotent stem cell derived cardiomyocyte model', Molecular Genetics and Metabolism, vol. 143, no. 1-2, 108575. https://doi.org/10.1016/j.ymgme.2024.108575
Roy, A, Patel, L, Yuan, M, O'Shea, C, Alvior, AMB, Charalambides, M, Moxon, D, Baig, S, Bunting, KV, Gehmlich, K, Geberhiwot, T & Steeds, R 2024, 'Defining the cardiovascular phenotype of adults with Alström syndrome', International Journal of Cardiology, vol. 409, 132212. https://doi.org/10.1016/j.ijcard.2024.132212
Fabritz, L, Fortmueller, L, Gehmlich, K, Kant, S, Kemper, M, Kucerova, D, Syeda, F, Faber, C, Leube, R, Kirchhof, P & Krusche, CA 2024, 'Endurance training provokes Arrhythmogenic Right Ventricular Cardiomyopathy phenotype in heterozygous Desmoglein 2 mutants: Alleviation by preload reduction', Biomedicines, vol. 12, no. 5, 985. https://doi.org/10.3390/biomedicines12050985
Støle, TP, Lunde, M, Gehmlich, K, Christensen, G, Louch, WE & Carlson, CR 2024, 'Exploring Syndecan-4 and MLP, and Their Interaction, in Primary Cardiomyocytes and H9c2 Cells', Cells, vol. 13, no. 11, 947. https://doi.org/10.3390/cells13110947
McKay, EJ, Luijten, I, Broadway-Stringer, S, Thomson, A, Weng, X, Gehmlich, K, Gray, GA & Semple, RK 2024, 'Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström Syndrome cardiomyopathy', Disease Models & Mechanisms. https://doi.org/10.1242/dmm.050561
Gehmlich, K & Krause, S 2024, 'Gender distribution of scientific prizes is associated with naming of awards after men, women or neutral', Data, vol. 9, no. 7, 84. https://doi.org/10.3390/data9070084
Cumberland, M, Euchner, J, Azad, A, Vo, NTN, Kirchhof, P, Holmes, A, Denning, C & Gehmlich, K 2024, 'Generation of a human iPSC-derived cardiomyocyte/fibroblast engineered heart tissue model [version 1; peer review: 1 approved, 2 approved with reservations]', F1000Research, vol. 12, 1224. https://doi.org/10.12688/f1000research.139482.1
Reyat, J, Sommerfeld, L, O'Reilly, M, Roth Cardoso, V, Thiemann, E, Khan, A, O'Shea, C, Harder, S, Müller, C, Barlow, J, Stapley, R, Chua, WWL, Kabir, N, Grech, O, Hummel, O, Hübner, N, Kaab, S, Mont, L, Hatem, SN, Winters, J, Zeemering, S, Morgan, N, Rayes, J, Gehmlich, K, Stoll, M, Brand, T, Schweizer , M, Piasecki, A, Schotten, U, Gkoutos, G, Lorenz, K, Cuello, F, Kirchhof, P & Fabritz, L 2024, 'PITX2 deficiency leads to atrial mitochondrial dysfunction', Cardiovascular Research. https://doi.org/10.1093/cvr/cvae169
Sommerfeld, LC, Holmes, AP, Yu, TY, O'Shea, C, Kavanagh, DM, Pike, JM, Wright, T, Syeda, F, Aljehani, A, Kew, T, Cardoso, VR, Kabir, SN, Hepburn, C, Menon, PR, Broadway‐Stringer, S, O'Reilly, M, Witten, A, Fortmueller, L, Lutz, S, Kulle, A, Gkoutos, GV, Pavlovic, D, Arlt, W, Lavery, GG, Steeds, R, Gehmlich, K, Stoll, M, Kirchhof, P & Fabritz, L 2024, 'Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse', The Journal of Physiology. https://doi.org/10.1113/jp284597
Review article
Thompson, SE, Roy, A, Geberhiwot, T, Gehmlich, K & Steeds, R 2025, 'Fabry Disease: Insights into Pathophysiology and Novel Therapeutic Strategies', Biomedicines.
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