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Publications

Early Atrial Remodeling Drives Arrhythmia in Fabry Disease.

Roy A. et al, (2025), Circ Arrhythm Electrophysiol

Atrial electrical alterations with intact cardiac structure and contractile function in a mouse model of an HCM-linked ACTN2 variant

Noureddine M. et al, (2025), Journal of Molecular and Cellular Cardiology Plus, 12, 100455 - 100455

HCM-Associated MuRF1 Variants Compromise Ubiquitylation and Are Predicted to Alter Protein Structure

Chunthorng-Orn J. et al, (2025), International Journal of Molecular Sciences, 26, 3921 - 3921

Filamin C dimerisation is regulated by HSPB7

Wang Z. et al, (2025), Nature Communications

Fabry Disease: Insights into Pathophysiology and Novel Therapeutic Strategies

Thompson SE. et al, (2025), Biomedicines, 13, 624 - 624

Structural and functional insights into α-actinin isoforms and their implications in cardiovascular disease.

Noureddine M. et al, (2025), J Gen Physiol, 157

AnALPK3truncation variant causing autosomal dominant hypertrophic cardiomyopathy is partially rescued by mavacamten

Leinhos L. et al, (2024)

Characterisation of infantile cardiomyopathy in Alström syndrome using ALMS1 knockout induced pluripotent stem cell derived cardiomyocyte model

Patel L. et al, (2024), Molecular Genetics and Metabolism, 143

PITX2 deficiency leads to atrial mitochondrial dysfunction

Reyat JS. et al, (2024), Cardiovascular Research

Reply to "letter to the editor: Defining the cardiovascular phenotype of adults with Alström syndrome".

Roy A. et al, (2024), Int J Cardiol, 414

Gender Distribution of Scientific Prizes Is Associated with Naming of Awards after Men, Women or Neutral

Gehmlich K. and Krause S., (2024), Data, 9

Defining the cardiovascular phenotype of adults with Alström syndrome.

Roy A. et al, (2024), Int J Cardiol, 409

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström Syndrome cardiomyopathy.

McKay EJ. et al, (2024), Dis Model Mech

Endurance Training Provokes Arrhythmogenic Right Ventricular Cardiomyopathy Phenotype in Heterozygous Desmoglein-2 Mutants: Alleviation by Preload Reduction

Fabritz L. et al, (2024), Biomedicines, 12

Arrhythmogenesis in Fabry Disease.

Roy A. et al, (2024), Curr Cardiol Rep

Generation of a human iPSC-derived cardiomyocyte/fibroblast engineered heart tissue model

Cumberland MJ. et al, (2024), F1000Research, 12, 1224 - 1224

Reduced plakoglobin increases the risk of sodium current defects and atrial conduction abnormalities in response to androgenic anabolic steroid abuse.

Sommerfeld LC. et al, (2024), J Physiol

Cardiac stress leads to regulation of Filamin C dimerisation via an ancient phosphorylation-modulated interaction with HSPB7

Wang Z. et al, (2024)

How we name academic prizes matters.

Gehmlich K. and Krause S., (2023), Nat Hum Behav

Phenoage and longitudinal changes on transthoracic echocardiography in Alström syndrome: a disease of accelerated ageing?

Patel L. et al, (2023), Geroscience

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