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, vol. 15, 10090. https://doi.org/10.1038/s41598-025-94371-w
Noureddine, M, Broadway-Stringer, S, O'Shea, C, Jones, BAI, Hayes, A, Denning, C, Loughna, S, Mohammed, F, Pavlovic, D & Gehmlich, K 2025, 'Atrial Electrical Alterations with Intact Cardiac Structure and Contractile Function in a Mouse Model of an HCM-linked ACTN2 Variant', Journal of Molecular and Cellular Cardiology Plus. https://doi.org/10.1016/j.jmccpl.2025.100455
Roy, A, O'Shea, C, Dasí, A, Patel, L, Cumberland, MJ, Nieves, D, Canagarajah, H, Thompson, S, Azad, A, Price, A, Hall, C, Alvior, AM, Rath, P, Davies, B, Rodriguez, B, Holmes, AP, Pavlovic, D, Townend, JN, Geberhiwot, T, Gehmlich, K & Steeds, RP 2025, 'Early Atrial Remodeling Drives Arrhythmia in Fabry Disease', Circulation Arrhythmia and Electrophysiology. https://doi.org/10.1161/CIRCEP.124.013352
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, vol. 16, 4090. https://doi.org/10.1038/s41467-025-58889-x
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, vol. 26, no. 8, 3921. https://doi.org/10.3390/ijms26083921
Marhuenda, E, Xanthis, I, O. Smith, P, Prakash , A, Kallem, T, Pandey, P, Wilson, DGS, Azad, A, Richter, M, Pavlovic, D, Gehmlich, K, Faggian, G, Swiatlowska, P, Ehler, E, Levitt, J, Poland, SP, Ameer-Beg, S, Goult , BT & Iskratsch, T 2025, 'Mechanosensitive biochemical imprinting of the talin interaction with DLC1 regulates RhoA activity and cardiomyocyte remodeling', Science Advances, vol. 11, no. 36. https://doi.org/10.1126/sciadv.adt6083
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
Patel, L, Marzullo, BP, Barlow, J, Rana, H, Azad, AJ, Thomas, P, Tennant, DA & Gehmlich, K 2025, 'Substrate Stiffness‐Dependent Metabolic Reprogramming of iPSC‐Derived cardiomyocytes on Physiological PDMS Polymers', Metabolic Engineering Communications, vol. 21, e00266. https://doi.org/10.1016/j.mec.2025.e00266
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
Review article
Thompson, SE, Roy, A, Geberhiwot, T, Gehmlich, K & Steeds, RP 2025, 'Fabry Disease: Insights into Pathophysiology and Novel Therapeutic Strategies', Biomedicines, vol. 13, no. 3, 624. https://doi.org/10.3390/biomedicines13030624
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