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The molecular mechanism of muscle dysfunction associated with the R133W mutation in Tpm2.2.

Journal article

Borovikov YS. et al, (2020), Biochem Biophys Res Commun, 523, 258 - 262

Mavacamten rescues increased myofilament calcium sensitivity and dysregulation of Ca2+ flux caused by thin filament hypertrophic cardiomyopathy mutations.

Journal article

Sparrow AJ. et al, (2020), American journal of physiology. Heart and circulatory physiology

The homozygous K280N troponin T mutation alters cross-bridge kinetics and energetics in human HCM.

Journal article

Piroddi N. et al, (2019), J Gen Physiol, 151, 18 - 29

Hypertrophic cardiomyopathy mutations in MYBPC3 dysregulate myosin.

Journal article

Toepfer CN. et al, (2019), Science translational medicine, 11

MYBPC3 Mutations Cause Hypertrophic Cardiomyopathy by Dysregulating Myosin: Implications for Therapy

Conference paper

Toepfer CN. et al, (2018), CIRCULATION RESEARCH, 123

Mutant Muscle LIM Protein C58G causes cardiomyopathy through protein depletion

Journal article

Gehmlich K., (2018), Journal of Molecular and Cellular Cardiology

Mammalian γ2 AMPK regulates intrinsic heart rate

Journal article

Yavari A. et al, (2017), Nature Communications

Activation of Autophagy Ameliorates Cardiomyopathy in Mybpc3-Targeted Knockin Mice.

Journal article

Singh SR. et al, (2017), Circ Heart Fail, 10

Evaluation of MYBPC3 trans-Splicing and Gene Replacement as Therapeutic Options in Human iPSC-Derived Cardiomyocytes.

Journal article

Prondzynski M. et al, (2017), Mol Ther Nucleic Acids, 7, 475 - 486

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