Elizabeth McNally

My lab is interested in cellular, molecular and developmental biology of muscle and heart. We study the dystrophin-glycoprotein complex (or DGC), a multiprotein complex found in all types of muscle. The DGC stabilizes the plasma membrane by providing a link from the cytoskeleton to the membrane and the extracellular matrix. Targeted disruptions of the genes encoding sarcoglycan subunits lead to progressive loss of skeletal myofibers and cardiomyocytes. We found that degeneration in the heart that arises from the loss of sarcoglycan proteins can produce spasm of the vessels that feed the heart. More recently we are studying the role of stem cells for their ability to regrow muscle and heart in these degenerative processes. We found that bone marrow-derived stem cells can readily fuse to heart and skeletal muscle. However, after fusion, the stem cell-derived nuclei appear to be reprogrammed so that they lack the normal expression profile of a mature heart or muscle cell. We are actively studying proteins that mediate the fusion process in muscle and contribute to muscle growth.

My lab is interested in cellular, molecular and developmental biology of muscle and heart. We study the dystrophin-glycoprotein complex (or DGC), a multiprotein complex found in all types of muscle. The DGC stabilizes the plasma membrane by providing a link from the cytoskeleton to the membrane and the extracellular matrix. Targeted disruptions of the genes encoding sarcoglycan subunits lead to progressive loss of skeletal myofibers and cardiomyocytes. We found that degeneration in the heart that arises from the loss of sarcoglycan proteins can produce spasm of the vessels that feed the heart. More recently we are studying the role of stem cells for their ability to regrow muscle and heart in these degenerative processes. We found that bone marrow-derived stem cells can readily fuse to heart and skeletal muscle. However, after fusion, the stem cell-derived nuclei appear to be reprogrammed so that they lack the normal expression profile of a mature heart or muscle cell. We are actively studying proteins that mediate the fusion process in muscle and contribute to muscle growth.

Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, Glick B, Nevo Y, Ben-Neriah Z, Melki J. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet. 2009 Jun 19.  

McNally E, Dellefave L. Sarcomere mutations in cardiogenesis and ventricular noncompaction. Trends Cardiovasc Med. 2009 Jan;19(1):17-21.  

Heydemann A, McNally E. NO more muscle fatigue. J Clin Invest. 2009 Mar;119(3):448-50.  

McNally EM, Svensson EC. Setting the pace: Tbx3 and Tbx18 in cardiac conduction system development. Circ Res. 2009 Feb 13;104(3):285-7. No abstract available.  

Puckelwartz MJ, Kessler E, Zhang Y, Hodzic D, Randles KN, Morris G, Earley JU, Hadhazy M, Holaska JM, Mewborn SK, Pytel P, McNally EM. Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. Hum Mol Genet. 2009 Feb 15;18(4):607-20.  

Wallace GQ, McNally EM. Mechanisms of muscle degeneration, regeneration, and repair in the muscular dystrophies. Annu Rev Physiol. 2009;71:37-57.  

Pytel P, Husain A, Moskowitz I, Raman J, Macleod H, Anderson AS, Burke M, McNally EM. Ventricular fibrillation following autologous intramyocardial cell therapy for inherited cardiomyopathy. Cardiovasc Pathol. 2008 Nov 20.  

MacLeod HM, McNally EM. J Genet Couns. A pilot study of a family history risk assessment tool for cardiovascular disease. 2008 Oct;17(5):499-507.  

Wallace GQ, Lapidos KA, Kenik JS, McNally EM. Am J Pathol. Long-term survival of transplanted stem cells in immunocompetent mice with muscular dystrophy. 2008 Sep;173(3):792-802.  

Attali R, Warwar N, Israel A, Gurt I, McNally E, Puckelwartz M, Glick B, Nevo Y, Ben-Neriah Z, Melki J. Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis. Hum Mol Genet. 2009 Jun 19.  

McNally E, Dellefave L. Sarcomere mutations in cardiogenesis and ventricular noncompaction. Trends Cardiovasc Med. 2009 Jan;19(1):17-21.  

Heydemann A, McNally E. NO more muscle fatigue. J Clin Invest. 2009 Mar;119(3):448-50.  

McNally EM, Svensson EC. Setting the pace: Tbx3 and Tbx18 in cardiac conduction system development. Circ Res. 2009 Feb 13;104(3):285-7. No abstract available.  

Puckelwartz MJ, Kessler E, Zhang Y, Hodzic D, Randles KN, Morris G, Earley JU, Hadhazy M, Holaska JM, Mewborn SK, Pytel P, McNally EM. Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice. Hum Mol Genet. 2009 Feb 15;18(4):607-20.