This research project focuses on elucidating the mechanisms by which mutations in the ventricular myosin essential light chain (ELC) lead to different hypertrophic remodeling in the hearts of transgenic mice. We are using single molecule, phosphoproteomic and in vivo approaches to elucidate the ELC-mediated normal (in Δ43 & WT mice) versus pathological (in A57G & […]
Project 1. Cardioskeletal myopathy associated with mutations in the MYL2 gene encoding for the myosin Regulatory Light Chain (RLC) in the heart and in slow-twitch skeletal muscle
Infantile fiber-type I hypotrophy with simultaneously occurring severe onset of cardiomyopathy was reported in multiple Dutch and Italian families and genetically linked to the MYL2 gene encoding for the human myosin regulatory light chain RLCventr/slow concurrently expressed in cardiac ventricles and in slow-twitch skeletal muscles. To address the molecular origin of this novel RLCventr/slow-induced cardioskeletal […]
Structural studies on transgenic mouse papillary and soleus muscle fibers using small angle X-ray diffraction at BioCAT 18ID (Beamtime April 15-April 19, 2016). Click the title for pictures.
Former Postdoctoral Associate. Currently at OPKO Health. Inc. Miami
Former Graduate Student. Currently at Columbia University, New York.
Chen-Ching Yuan Email: email@example.com Structural and functional studies on animal models of hypertrophic, dilated and restrictive cardiomyopathy caused by myosin light chains mutations. Supported by AHA 15PRE23020006 Cardiomyopathy is a disease of the myocardium that could be either acquired or inherited (genetic). This study is focused on three types of inherited cardiomyopathy: hypertrophic (HCM), dilated (DCM) […]
Zhiqun Zhou, PhD Email: firstname.lastname@example.org Molecular mechanisms underlying malignant MYL2 mutations leading to cardiac and slow skeletal muscle myopathies. Supported by AHA 15POST25080302 (07/01/2015-06/30/2017) Cardioskeletal myopathy with onset and death in infancy, morphological features of muscle type I hypotrophy with myofibrillar disorganization and hypertrophic/dilated cardiomyopathy were previously reported in three Dutch families. Recently, Weterman et al. […]
Jingsheng Liang, MD Email: email@example.com Studies of the effect of genetic mutations in MYL2 and MYL3 on the skinned fiber mechanics (force-pCa, maximal tension, passive tension).
Katarzyna Kazmierczak, PhD Email: firstname.lastname@example.org Development of physiological versus pathological cardiac hypertrophy in animal models of cardiomyopathy expressing mutations in MYL2 and MYL3.
Danuta Szczesna-Cordary, PhD Email: email@example.com Myosin Light Chain Mutant Induced Cardiomyopathies The major theme of my research regards myosin and troponin-mediated cellular events that result in sarcomere shortening and muscle contraction studied at the molecular, myofilament and organ levels. Our recent research interests concentrate on the molecular and genetic causes of cardiomyopathy with a special […]