Blood-based microRNA signatures differentiate various forms of cardiac hypertrophy

Anselm A. Derda, Sabrina Thum, Johan M. Lorenzen, +10

International Journal of Cardiology

CardiomyopathyHeart FailureCardiovascular DiseasePhysiologyMicrorna Detection +6

Glutaric Aciduria Type 1 Metabolites Impair the Succinate Transport from Astrocytic to Neuronal Cells

Jessica Lamp, Britta Keyser, David M. Koeller, +3

Journal of Biological Chemistry

Sudden OnsetTca Cycle ActivityCellular NeurobiologyCellular PhysiologySocial Sciences +17

Observational Cohort Study of Ventricular Arrhythmia in Adults with Marfan Syndrome Caused by FBN1 Mutations

Sara Sheikhzadeh, Britta Keyser, Meike Rybczynski, +10

PLoS ONE

Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy

Judith Montag, Kathrin Kowalski, Mirza Makul, +16

Frontiers in Physiology

Analysis of phenotype and genotype information for the diagnosis of Marfan syndrome

Sara Sheikhzadeh, C. Kade, Britta Keyser, +12

Clinical Genetics

Genotype InformationGeneticsGenetic EpidemiologyPathologyMarfan Genotype +18

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)

Britta Keyser, Chris Mühlhausen, Achim Dickmanns, +4

Human Molecular Genetics

GeneticsMolecular BiologyMolecular GeneticsMutant GcdhDisease Gene Identification +16

3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3

Franziska Stellmer, Britta Keyser, Birgitta C. Burckhardt, +13

Journal of Molecular Medicine

Aldehyde DehydrogenaseBiochemistry3-Hydroxyglutaric AcidNatural SciencesMembrane Transport +6

Total Serum Transforming Growth Factor‐β1 Is Elevated in the Entire Spectrum of Genetic Aortic Syndromes

Mathias Hillebrand, Nathalie Millot, Sara Sheikhzadeh, +12

Clinical Cardiology

The main pulmonary artery in adults: a controlled multicenter study with assessment of echocardiographic reference values, and the frequency of dilatation and aneurysm in Marfan syndrome

Sara Sheikhzadeh, Julie De Backer, Neda Rahimian Gorgan, +16

Orphanet Journal of Rare Diseases

Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1

Britta Keyser, Markus Glatzel, Franziska Stellmer, +12

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Glutaric AciduriaBiochemistryPhysiologyMetabolomicsMetabolism +3