Katja Gehmlich

• Age and strain related aberrant Ca(2+) release is associated with sudden cardiac death in the ACTC E99K mouse model of hypertrophic cardiomyopathy.

  Journal article

  Rowlands C. et al, (2017), Am J Physiol Heart Circ Physiol

• Insights into disease mechanisms of cardiomyopathy in the presence of the CSRP3 C58G mutation

  Poster

  Ehsan M. et al, (2017)

• Evidence for Chaperone Function in Mechanosensation

  Conference paper

  Collier M. et al, (2017), BIOPHYSICAL JOURNAL, 112, 491A - 491A

• Aberrant developmental titin splicing and dysregulated sarcomere length in Thymosin β4 knockout mice.

  Journal article

  Smart N. et al, (2017), J Mol Cell Cardiol, 102, 94 - 107

• Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.

  Journal article

  Hastings R. et al, (2016), Circ Cardiovasc Genet, 9, 426 - 435

• MLP and CARP are linked to chronic PKCα signalling in dilated cardiomyopathy.

  Journal article

  Lange S. et al, (2016), Nat Commun, 7

• Heterozygous plakoglobin deficiency results in increased biventricular beta-catenin expression

  Conference paper

  Mak JKC. et al, (2015), EUROPEAN HEART JOURNAL, 36, 215 - 215

• PLAKOGLOBIN DEFICIENCY LEADS TO INCREASED BIVENTRICULAR BETA-CATENIN EXPRESSION IN THE MURINE HEART

  Conference paper

  Mak JKC. et al, (2015), HEART, 101, A124 - A124

• How Cardiac Cytoarchitecture Can Go Wrong: Hypertrophic Cardiomyopathy as a Paradigm for Genetic Disease of the Heart

  Chapter

  Gehmlich K. and Cahill TJ., (2015), Cardiac Cytoarchitecture How to Maintain a Working Heart

• Changes in the cardiac metabolome caused by perhexiline treatment in a mouse model of hypertrophic cardiomyopathy.

  Journal article

  Gehmlich K. et al, (2015), Mol Biosyst, 11, 564 - 573

• AB-Crystallin Binds to Titin Ig Domains and Increases Stiffness of Skinned Cardiac Trabeculae

  Conference paper

  Turtle CW. et al, (2015), BIOPHYSICAL JOURNAL, 108, 444A - 444A

• Desmoglein-2 interaction is crucial for cardiomyocyte cohesion and function.

  Journal article

  Schlipp A. et al, (2014), Cardiovasc Res, 104, 245 - 257

• Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis.

  Journal article

  Rasmussen TB. et al, (2014), Circ Cardiovasc Genet, 7, 230 - 240

• The Majority of Plakophilin-2 Mutations in Arrhythmogenic Cardiomyopathy are Associated with Haploinsufficiency in the Myocardium and Epidermis

  Conference paper

  Rasmussen TB. et al, (2012), CIRCULATION, 126

• Molecular changes in the heart of a severe case of arrhythmogenic right ventricular cardiomyopathy caused by a desmoglein-2 null allele.

  Journal article

  Gehmlich K. et al, (2012), Cardiovasc Pathol, 21, 275 - 282

• How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

  Journal article

  Marston S. et al, (2012), J Muscle Res Cell Motil, 33, 75 - 80

• Erratum: How do MYBPC3 mutations cause hypertrophic cardiomyopathy? (Journal of Muscle Research and Cell Motility DOI 10.1007/s10974-011-9268-3)

  Journal article

  Marston S. et al, (2012), Journal of Muscle Research and Cell Motility, 33

• Familial evaluation in arrhythmogenic right ventricular cardiomyopathy: impact of genetics and revised task force criteria.

  Journal article

  Quarta G. et al, (2011), Circulation, 123, 2701 - 2709

• A novel desmocollin-2 mutation reveals insights into the molecular link between desmosomes and gap junctions.

  Journal article

  Gehmlich K. et al, (2011), Heart Rhythm, 8, 711 - 718

• Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutations.

  Journal article

  Gehmlich K. et al, (2011), Cardiovasc Res, 90, 77 - 87

• Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

  Journal article

  Gehmlich K. et al, (2010), Heart Rhythm, 7, 1446 - 1453

• Ponsin interacts with Nck adapter proteins: implications for a role in cytoskeletal remodelling during differentiation of skeletal muscle cells.

  Journal article

  Gehmlich K. et al, (2010), Eur J Cell Biol, 89, 351 - 364

• "MLP: A Stress Sensor Goes Nuclear" by Sylvia Gunkel, Jörg Heineke, Denise Hilfiker-Kleiner, Ralph Knöll, J Mol Cell Cardiol. 2009;47(4):423-5.

  Journal article

  Gehmlich K. et al, (2010), J Mol Cell Cardiol, 48, 424 - 425

• Erratum: Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy (Human Molecular Genetics (2008) vol. 17 (18) (2753-2765) 10.1093/hmg/ddn160)

  Journal article

  Geier C. et al, (2008), Human Molecular Genetics, 17

• Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy.

  Journal article

  Geier C. et al, (2008), Hum Mol Genet, 17, 2753 - 2765

• Back to square one: what do we know about the functions of muscle LIM protein in the heart?

  Journal article

  Gehmlich K. et al, (2008), J Muscle Res Cell Motil, 29, 155 - 158

• Paxillin and ponsin interact in nascent costameres of muscle cells.

  Journal article

  Gehmlich K. et al, (2007), J Mol Biol, 369, 665 - 682

• Constitutive upregulations of titin-based signalling proteins in KY deficient muscles.

  Journal article

  Beatham J. et al, (2006), Neuromuscul Disord, 16, 437 - 445

• Decreased interactions of mutant muscle LIM protein (MLP) with N-RAP and alpha-actinin and their implication for hypertrophic cardiomyopathy.

  Journal article

  Gehmlich K. et al, (2004), Cell Tissue Res, 317, 129 - 136

• Cyclin B degradation leads to NuMA release from dynein/dynactin and from spindle poles.

  Journal article

  Gehmlich K. et al, (2004), EMBO Rep, 5, 97 - 103

• Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy.

  Journal article

  Geier C. et al, (2003), Circulation, 107, 1390 - 1395

Recent Publications

• Age and strain related aberrant Ca(2+) release is associated with sudden cardiac death in the ACTC E99K mouse model of hypertrophic cardiomyopathy.

  Journal article

  Rowlands C. et al, (2017), Am J Physiol Heart Circ Physiol

• Insights into disease mechanisms of cardiomyopathy in the presence of the CSRP3 C58G mutation

  Poster

  Ehsan M. et al, (2017)

• Evidence for Chaperone Function in Mechanosensation

  Conference paper

  Collier M. et al, (2017), BIOPHYSICAL JOURNAL, 112, 491A - 491A

• Aberrant developmental titin splicing and dysregulated sarcomere length in Thymosin β4 knockout mice.

  Journal article

  Smart N. et al, (2017), J Mol Cell Cardiol, 102, 94 - 107

• Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.

  Journal article

  Hastings R. et al, (2016), Circ Cardiovasc Genet, 9, 426 - 435