Elizabeth McNally

Summary

Affiliation: University of Chicago
Country: USA

Publications

  1. pmc Lamin A/C truncation in dilated cardiomyopathy with conduction disease
    Heather M MacLeod
    Section of Cardiology, Department of Medicine, University of Chicago, Chicago, IL, USA
    BMC Med Genet 4:4. 2003
  2. ncbi request reprint Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene
    E M McNally
    University of Chicago, Section of Cardiology, IL 60637, USA
    FEBS Lett 422:27-32. 1998
  3. ncbi request reprint New approaches in the therapy of cardiomyopathy in muscular dystrophy
    Elizabeth M McNally
    Department of Medicine, The University of Chicago, Chicago, Illinois 60637, USA
    Annu Rev Med 58:75-88. 2007
  4. ncbi request reprint Cardiomyopathy in muscular dystrophy workshop. 28-30 September 2003, Tucson, Arizona
    Elizabeth M McNally
    Department of Medicine, The University of Chicago, IL 60637, USA
    Neuromuscul Disord 14:442-8. 2004
  5. ncbi request reprint Muscle diseases: the muscular dystrophies
    Elizabeth M McNally
    Department of Medicine, Section of Cardiology, University of Chicago, Chicago, Illinois 60637, USA
    Annu Rev Pathol 2:87-109. 2007
  6. ncbi request reprint Therapy insight: cardiovascular complications associated with muscular dystrophies
    Elizabeth M McNally
    Department of Medicine, University of Chicago, IL 60637, USA
    Nat Clin Pract Cardiovasc Med 2:301-8. 2005
  7. ncbi request reprint Cytoskeletal defects in cardiomyopathy
    Elizabeth McNally
    Department of Medicine, The University of Chicago, 5841 S Maryland, MC6088, Chicago, IL, USA
    J Mol Cell Cardiol 35:231-41. 2003
  8. ncbi request reprint Caveolin-3 in muscular dystrophy
    E M McNally
    Division of Genetics and the Howard Hughes Medical Institute, Children s Hospital, Boston, MA 02115, USA
    Hum Mol Genet 7:871-7. 1998
  9. ncbi request reprint Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation
    E M McNally
    Department of Medicine, Department of Human Genetics, University of Chicago, Chicago, Illinois, USA
    Am J Med Genet 91:305-12. 2000
  10. ncbi request reprint The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma
    Karen A Lapidos
    Department of Molecular Genetics and Cell Biology, University of Chicago, Ill 60637, USA
    Circ Res 94:1023-31. 2004

Research Grants

  1. New Directions in Biology and Disease of Skeletal Muscle
    Elizabeth McNally; Fiscal Year: 2006
  2. SARCOGLYCAN IN MYOPATHY AND MUSCLE MEMBRANE STABILITY
    Elizabeth McNally; Fiscal Year: 2007
  3. CARDIOVASCULAR SCIENCES TRAINING GRANT
    Elizabeth McNally; Fiscal Year: 2007
  4. Sulfonylurea KATP channels in vascular spasm
    Elizabeth McNally; Fiscal Year: 2009
  5. SARCOGLYCAN IN MYOPATHY AND MUSCLE MEMBRANE STABILITY
    Elizabeth M McNally; Fiscal Year: 2010
  6. Myoferlin in Muscle Membrane Fusion and Repair
    Elizabeth McNally; Fiscal Year: 2009
  7. Nuclear membrane protein interaction in heart and muscle disease
    Elizabeth M McNally; Fiscal Year: 2010
  8. Myoferlin in Muscle Membrane Fusion and Repair
    Elizabeth M McNally; Fiscal Year: 2010
  9. Myoferlin in Muscle Membrane Fusion and Repair
    Elizabeth McNally; Fiscal Year: 2006
  10. GENETICS STUDIES OF FAMILIAL DILATED CARDIOMYOPATHY
    Elizabeth McNally; Fiscal Year: 2003

Collaborators

Detail Information

Publications65

  1. pmc Lamin A/C truncation in dilated cardiomyopathy with conduction disease
    Heather M MacLeod
    Section of Cardiology, Department of Medicine, University of Chicago, Chicago, IL, USA
    BMC Med Genet 4:4. 2003
    ....
  2. ncbi request reprint Human epsilon-sarcoglycan is highly related to alpha-sarcoglycan (adhalin), the limb girdle muscular dystrophy 2D gene
    E M McNally
    University of Chicago, Section of Cardiology, IL 60637, USA
    FEBS Lett 422:27-32. 1998
    ..The characterization of epsilon-sarcoglycan should make it possible to determine if it, like the other sarcoglycan genes, is mutated in muscular dystrophy...
  3. ncbi request reprint New approaches in the therapy of cardiomyopathy in muscular dystrophy
    Elizabeth M McNally
    Department of Medicine, The University of Chicago, Chicago, Illinois 60637, USA
    Annu Rev Med 58:75-88. 2007
    ..A subset of muscular dystrophies may place patients at significantly greater risk of developing cardiomyopathy and cardiac rhythm disturbances. These disorders are discussed, highlighting recent studies and recommendations for therapy...
  4. ncbi request reprint Cardiomyopathy in muscular dystrophy workshop. 28-30 September 2003, Tucson, Arizona
    Elizabeth M McNally
    Department of Medicine, The University of Chicago, IL 60637, USA
    Neuromuscul Disord 14:442-8. 2004
  5. ncbi request reprint Muscle diseases: the muscular dystrophies
    Elizabeth M McNally
    Department of Medicine, Section of Cardiology, University of Chicago, Chicago, Illinois 60637, USA
    Annu Rev Pathol 2:87-109. 2007
    ..This chapter reviews the basic structural properties of muscle and genetic mechanisms that lead to myopathy and muscular dystrophies that affect all age groups...
  6. ncbi request reprint Therapy insight: cardiovascular complications associated with muscular dystrophies
    Elizabeth M McNally
    Department of Medicine, University of Chicago, IL 60637, USA
    Nat Clin Pract Cardiovasc Med 2:301-8. 2005
    ..These therapies are expected to also improve the cardiac function, longevity and wellbeing of muscular dystrophy patients...
  7. ncbi request reprint Cytoskeletal defects in cardiomyopathy
    Elizabeth McNally
    Department of Medicine, The University of Chicago, 5841 S Maryland, MC6088, Chicago, IL, USA
    J Mol Cell Cardiol 35:231-41. 2003
    ..In this review, we will examine the genetic defects that lead to cardiomyopathy and the potential means by which these varied proteins normally maintain the structural integrity of myocytes...
  8. ncbi request reprint Caveolin-3 in muscular dystrophy
    E M McNally
    Division of Genetics and the Howard Hughes Medical Institute, Children s Hospital, Boston, MA 02115, USA
    Hum Mol Genet 7:871-7. 1998
    ..The amino acid changes map to a functionally important domain in caveolin-3, suggesting that these are not benign polymorphisms and instead are disease-causing mutations...
  9. ncbi request reprint Splicing mutation in dysferlin produces limb-girdle muscular dystrophy with inflammation
    E M McNally
    Department of Medicine, Department of Human Genetics, University of Chicago, Chicago, Illinois, USA
    Am J Med Genet 91:305-12. 2000
    ..This mutation produced an absence of normal dysferlin mRNA synthesis by affecting an acceptor site and cryptic splicing. Thus, splice site mutations that disrupt dysferlin may produce a phenotype associated with inflammation...
  10. ncbi request reprint The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma
    Karen A Lapidos
    Department of Molecular Genetics and Cell Biology, University of Chicago, Ill 60637, USA
    Circ Res 94:1023-31. 2004
    ..Vascular reactivity is altered in response to primary degeneration in striated myocytes and arises from a vascular smooth muscle cell-extrinsic mechanism...
  11. pmc Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation
    Stephanie K Mewborn
    Department of Medicine, The University of Chicago, Chicago, Illinois, United States of America
    PLoS ONE 5:e14342. 2010
    ..The nuclear lamina is thought to regulate gene expression by its direct interaction with chromatin. LMNA gene mutations may mediate disease by disrupting normal gene expression...
  12. pmc S100A12 in vascular smooth muscle accelerates vascular calcification in apolipoprotein E-null mice by activating an osteogenic gene regulatory program
    MARION A HOFMANN BOWMAN
    Department of Medicine, Section of Cardiology, University of Chicago, 5841 S Maryland Avenue, Chicago IL 60637, USA
    Arterioscler Thromb Vasc Biol 31:337-44. 2011
    ..In the current study, we tested the hypothesis that S100A12 expressed in vascular smooth muscle in atherosclerosis-prone apolipoprotein E (ApoE)-null mice would accelerate atherosclerosis...
  13. pmc S100A12 mediates aortic wall remodeling and aortic aneurysm
    Marion Hofmann Bowman
    Department of Medicine, Section of Cardiology, University of Chicago, Chicago, IL 60637, USA
    Circ Res 106:145-54. 2010
    ..RAGE has been extensively implicated in inflammatory states such as atherosclerosis, but the role of S100A12 as its ligand is less clear...
  14. pmc Genetic deletion of NOS3 increases lethal cardiac dysfunction following mouse cardiac arrest
    David G Beiser
    Emergency Resuscitation Center, Section of Emergency Medicine, University of Chicago, 5841 S Maryland Ave, MC 5068, Chicago, IL 60637, USA
    Resuscitation 82:115-21. 2011
    ..We studied the role of NO signaling on cardiovascular outcomes following cardiac arrest and resuscitation using endothelial NO synthase knockout (NOS3(-/-)) mice...
  15. pmc NO more muscle fatigue
    Ahlke Heydemann
    Section of Cardiology, Department of Medicine, University of Chicago, 5841 S Maryland, Chicago, IL 60637, USA
    J Clin Invest 119:448-50. 2009
    ..Collectively, these findings significantly advance our understanding of exercise-induced muscle fatigue and its role in muscle disease...
  16. ncbi request reprint Genetic background influences muscular dystrophy
    Ahlke Heydemann
    Department of Medicine, The University of Chicago, Chicago, IL 60637, USA
    Neuromuscul Disord 15:601-9. 2005
    ..Identification of these modifier genes and the associated pathways may lead to novel therapeutic strategies...
  17. ncbi request reprint Nuclear sequestration of delta-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes
    Ahlke Heydemann
    Department of Medicine, Section of Cardiology, The University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 16:355-63. 2007
    ....
  18. ncbi request reprint Cardiomyopathy is independent of skeletal muscle disease in muscular dystrophy
    Xiaolei Zhu
    Department of Medicine, Section of Cardiology, The University of Chicago, Chicago, Illinois 60637, USA
    FASEB J 16:1096-8. 2002
    ....
  19. pmc Latent TGF-beta-binding protein 4 modifies muscular dystrophy in mice
    Ahlke Heydemann
    Department of Medicine, Section of Cardiology, University of Chicago, Chicago, Illinois, USA
    J Clin Invest 119:3703-12. 2009
    ..In contrast, a 12-amino-acid deletion in LTBP4 was associated with increased proteolysis, SMAD signaling, and fibrosis. These data identify Ltbp4 as a target gene to regulate TGF-beta signaling and modify outcomes in muscular dystrophy...
  20. doi request reprint Mechanisms of muscle degeneration, regeneration, and repair in the muscular dystrophies
    Gregory Q Wallace
    Department of Medicine, The University of Chicago, Chicago, Illinois 60637, USA
    Annu Rev Physiol 71:37-57. 2009
    ..This review discusses the cellular mechanisms that are primarily and secondarily disrupted in muscular dystrophy, focusing on membrane degeneration, muscle regeneration, and the repair of muscle...
  21. pmc Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice
    Megan J Puckelwartz
    Department of Human Genetics, Washington University, St Louis, MO, USA
    Hum Mol Genet 18:607-20. 2009
    ..These findings demonstrate the role of the LINC complex, and nesprin-1, in neuromuscular and cardiac disease...
  22. ncbi request reprint Reduced life span with heart and muscle dysfunction in Drosophila sarcoglycan mutants
    Michael J Allikian
    Department of Medicine, University of Chicago, Chicago, IL 60637, USA
    Hum Mol Genet 16:2933-43. 2007
    ..Together, these data demonstrate the essential nature of the transmembrane and extracellular domains of Drosophila delta-sarcoglycan for normal muscle structure and function...
  23. ncbi request reprint Processing and assembly of the dystrophin glycoprotein complex
    Michael J Allikian
    Department of Medicine, Section of Cardiology, The University of Chicago, 5841 S Maryland, MC6088, Chicago, IL 60637, USA
    Traffic 8:177-83. 2007
    ..Normal sarcolemmal function requires proper DGC synthesis and positioning, and perturbation of the DGC leads to muscle membrane instability and disease...
  24. ncbi request reprint Consequences of disrupting the dystrophin-sarcoglycan complex in cardiac and skeletal myopathy
    Ahlke Heydemann
    Department of Medicine, Section of Cardiology, The University of Chicago, Chicago, IL 60637, USA
    Trends Cardiovasc Med 17:55-9. 2007
    ..Nitric oxide synthase and stress-induced signaling cascades are activated to participate in protection but may also contribute to pathology...
  25. pmc Myoferlin regulation by NFAT in muscle injury, regeneration and repair
    Alexis R Demonbreun
    Committee on Developmental Biology, The University of Chicago, 5841 South Maryland Avenue, MC 6088, Chicago, IL 60637, USA
    J Cell Sci 123:2413-22. 2010
    ..Myoferlin modulates the response to muscle injury through its activity in both myoblasts and mature myofibers...
  26. pmc Long-term survival of transplanted stem cells in immunocompetent mice with muscular dystrophy
    Gregory Q Wallace
    Department of Medicine, Section of Cardiology, The University of Chicago, Chicago, IL 60637, USA
    Am J Pathol 173:792-802. 2008
    ....
  27. ncbi request reprint Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro
    John M K Mislow
    Department of Pathology, The University of Chicago, Chicago, IL 60637, USA
    FEBS Lett 525:135-40. 2002
    ..We propose that membrane-anchored nesprin-1alpha antiparallel dimers interact with both emerin and lamin A to provide scaffolding at the inner nuclear membrane...
  28. pmc Smooth muscle cell-extrinsic vascular spasm arises from cardiomyocyte degeneration in sarcoglycan-deficient cardiomyopathy
    Matthew T Wheeler
    Department of Molecular Genetics and Cell Biology, The University of Chicago, Chicago, Illinois 60673, USA
    J Clin Invest 113:668-75. 2004
    ..Therefore, we propose that cytokine release from damaged cardiomyocytes can feed back to produce vascular spasm. Moreover, vascular spasm feeds forward to produce additional cardiac damage...
  29. pmc Secondary coronary artery vasospasm promotes cardiomyopathy progression
    Matthew T Wheeler
    Department of Molecular Genetics and Cell Biology, Section of Cardiology, University of Chicago, Chicago, Illinois, USA
    Am J Pathol 164:1063-71. 2004
    ..30 ml/minute/g versus 0.67 +/- 0.16 ml/minute/g, P < 0.05). These data indicate that secondary vasospasm contributes to the development of cardiomyopathy and is an important therapeutic target to limit cardiomyopathy progression...
  30. ncbi request reprint Calcium-sensitive phospholipid binding properties of normal and mutant ferlin C2 domains
    Dawn Belt Davis
    Department of Pathology, The University of Chicago, Chicago, Illinois 60637, USA
    J Biol Chem 277:22883-8. 2002
    ..Based on these data, we propose a mechanism for muscular dystrophy in which calcium-regulated phospholipid binding is abnormal, leading to defective maintenance and repair of muscle membranes...
  31. ncbi request reprint Functional nitric oxide synthase mislocalization in cardiomyopathy
    Ahlke Heydemann
    Department of Medicine, Section of Cardiology, The University of Chicago, 5841 S Maryland, MC6088, Rm G611, Chicago, IL 60637, USA
    J Mol Cell Cardiol 36:213-23. 2004
    ..These data provide a mechanism where regional, focal cardiac damage creates pathologic gradients of NO. Moreover, inhibition of nitric oxide synthase corrects defects that arise from pathologic NO gradients...
  32. ncbi request reprint Genetic compensation for sarcoglycan loss by integrin alpha7beta1 in muscle
    Michael J Allikian
    Department of Medicine, The University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA
    J Cell Sci 117:3821-30. 2004
    ....
  33. ncbi request reprint The ubiquitin-modifying enzyme A20 is required for termination of Toll-like receptor responses
    David L Boone
    Department of Medicine, University of California at San Francisco, San Francisco, California 94143 0451, USA
    Nat Immunol 5:1052-60. 2004
    ..The critical function of this deubiquitinating enzyme in the restriction of TLR signals emphasizes the importance of the regulation of ubiquitin conjugation in innate immune cells...
  34. doi request reprint Sarcomere mutations in cardiogenesis and ventricular noncompaction
    Elizabeth McNally
    Department of Medicine, Section of Cardiology, The University of Chicago, Chicago, IL 60637, USA
    Trends Cardiovasc Med 19:17-21. 2009
    ..These human genetic findings support that normal myocardial and sarcomere function are required for proper compaction and septation and that these mutations also portend a high risk of developing heart failure in later life...
  35. pmc Impaired exercise tolerance and skeletal muscle myopathy in sulfonylurea receptor-2 mutant mice
    Douglas Stoller
    Committee on Cellular and Molecular Physiology, The University of Chicago, Chicago, Illinois 60637, USA
    Am J Physiol Regul Integr Comp Physiol 297:R1144-53. 2009
    ..Despite an improved response to acute sympathetic stress and baseline cardioprotection, exercise intolerance results from lack of SUR2 K(ATP) channels in mice...
  36. ncbi request reprint Repairing the tears: dysferlin in muscle membrane repair
    Katherine R Doherty
    University of Chicago, 5841 S Maryland, MC6088, G611, Chicago, IL 60302, USA
    Trends Mol Med 9:327-30. 2003
  37. pmc Myoferlin is required for insulin-like growth factor response and muscle growth
    Alexis R Demonbreun
    Committee on Developmental Biology, The University of Chicago, Chicago, Illinois, USA
    FASEB J 24:1284-95. 2010
    ..Demonbreun, A. R., Posey, A. D., Heretis, K., Swaggart, K. A., Earley, J. U., Pytel, P., McNally, E. M. Myoferlin is required for insulin-like growth factor response and muscle growth...
  38. pmc Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy
    Neal K Lakdawala
    Cardiovascular Division, Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
    J Am Coll Cardiol 55:320-9. 2010
    ..We sought to further define the role of sarcomere mutations in dilated cardiomyopathy (DCM) and associated clinical phenotypes...
  39. ncbi request reprint Myne-1, a spectrin repeat transmembrane protein of the myocyte inner nuclear membrane, interacts with lamin A/C
    John M K Mislow
    Department of Pathology, The University of Chicago, Chicago, IL 60637, USA
    J Cell Sci 115:61-70. 2002
    ..The muscle-specific inner nuclear envelope expression of myne-1, along with its interaction with lamin A/C, indicates that this gene is a potential mediator of cardiomyopathy and muscular dystrophy...
  40. doi request reprint A pilot study of a family history risk assessment tool for cardiovascular disease
    Heather M MacLeod
    Department of Medicine, Section of Cardiology, The University of Chicago, 5841 S Maryland, MC6088, Chicago, IL 60637, USA
    J Genet Couns 17:499-507. 2008
    ..Family history questionnaires in cardiology clinics can be a cost-effective tool for identifying patients and families who are in the greatest need of genetic evaluation and genetic counseling services...
  41. ncbi request reprint Normal myoblast fusion requires myoferlin
    Katherine R Doherty
    Department of Molecular Genetics and Cell Biology, The University of Chicago, Chicago, IL 60637, USA
    Development 132:5565-75. 2005
    ..These data support a role for myoferlin in the maturation of myotubes and the formation of large myotubes that arise from the fusion of myoblasts to multinucleate myotubes...
  42. pmc The endocytic recycling protein EHD2 interacts with myoferlin to regulate myoblast fusion
    Katherine R Doherty
    Department of Molecular Genetics and Cell Biology, Committee on Developmental Biology, The University of Chicago, Chicago, IL 60637, USA
    J Biol Chem 283:20252-60. 2008
    ..The interaction of myoferlin with EHD2 identifies molecular overlap between the endocytic recycling pathway and the machinery that regulates myoblast membrane fusion...
  43. ncbi request reprint Phospholamban R14 deletion results in late-onset, mild, hereditary dilated cardiomyopathy
    Megan M DeWitt
    Department to Medicine, Section of Cardiology, The University of Chicago, Chicago, Illinois, USA
    J Am Coll Cardiol 48:1396-8. 2006
    ..The purpose of this research was to determine the phenotypic spectrum associated with phospholamban gene (PLN) mutations...
  44. ncbi request reprint A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex
    Heather MacLeod
    Department of Medicine, Section of Cardiology, The University of Chicago, Chicago, IL 60637, USA
    Neuromuscul Disord 17:285-9. 2007
    ....
  45. ncbi request reprint Sarcoglycans in vascular smooth and striated muscle
    Matthew T Wheeler
    Department of Molecular Genetics and Cell Biology, The University of Chicago, Chicago, IL 60637, USA
    Trends Cardiovasc Med 13:238-43. 2003
    ..Recent evidence suggests that disruption of the smooth muscle sarcoglycan complex is not required for the development of vascular spasm and that vascular spasm arises from a vascular smooth muscle cell-extrinsic process...
  46. ncbi request reprint Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy
    Matthew T Wheeler
    Department of Molecular Genetics and Cell Biology, University of Chicago, IL 60637, USA
    Hum Mol Genet 11:2147-54. 2002
    ..Together, these data demonstrate that zeta-sarcoglycan is an integral component of the sarcoglycan complex and, as such, is important in the pathogenesis of muscular dystrophy...
  47. pmc Episodic coronary artery vasospasm and hypertension develop in the absence of Sur2 K(ATP) channels
    William A Chutkow
    University of Chicago, Department of Medicine, Section of Cardiology, Chicago, Illinois 60637, USA
    J Clin Invest 110:203-8. 2002
    ..The intermittent coronary artery vasospasm seen in Sur2(-/-) mice provides a model for the human disorder Prinzmetal variant angina and demonstrates that the SUR2 K(ATP) channel is a critical regulator of episodic vasomotor activity...
  48. pmc Nesprin-1 mutations in human and murine cardiomyopathy
    Megan J Puckelwartz
    Department of Human Genetics, The University of Chicago, Chicago, IL, USA
    J Mol Cell Cardiol 48:600-8. 2010
    ..These findings mirror what has been described from lamin A/C gene mutations and reinforce the importance of an intact nuclear membrane complex for a normally functioning heart...
  49. doi request reprint Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation
    Lisa M Dellefave
    Department of Medicine, The University of Chicago, Chicago, Ill, USA
    Circ Cardiovasc Genet 2:442-9. 2009
    ....
  50. ncbi request reprint Genetic modifiers of muscular dystrophy: implications for therapy
    Ahlke Heydemann
    Department of Medicine, Section of Cardiology, The University of Chicago, Chicago, IL 60637, USA
    Biochim Biophys Acta 1772:216-28. 2007
    ..The value of these genes and products is that the pathways identified through these experiments may be exploited for therapy...
  51. pmc Cardiomyocyte sulfonylurea receptor 2-KATP channel mediates cardioprotection and ST segment elevation
    Douglas A Stoller
    Committee on Cellular and Molecular Physiology, University of Chicago, Chicago, IL 60637, USA
    Am J Physiol Heart Circ Physiol 299:H1100-8. 2010
    ..Therefore, cardioprotective mechanisms both dependent and independent of SUR2-K(ATP) channels contribute to cardiac function...
  52. ncbi request reprint Spontaneous coronary vasospasm in KATP mutant mice arises from a smooth muscle-extrinsic process
    Rahul Kakkar
    Department of Medicine, The University of Chicago, IL 60637, USA
    Circ Res 98:682-9. 2006
    ..We conclude that spontaneous coronary vasospasm and sudden death in SUR2 null mice arises from a coronary artery vascular smooth muscle-extrinsic process...
  53. pmc Molecular identification and functional characterization of a mitochondrial sulfonylurea receptor 2 splice variant generated by intraexonic splicing
    Bin Ye
    Department of Medicine, University of Wisconsin, Madison, WI 53706, USA
    Circ Res 105:1083-93. 2009
    ..Cardioprotective pathways may involve a mitochondrial ATP-sensitive potassium (mitoK(ATP)) channel but its composition is not fully understood...
  54. pmc Transplanted hematopoietic stem cells demonstrate impaired sarcoglycan expression after engraftment into cardiac and skeletal muscle
    Karen A Lapidos
    Department of Molecular Genetics and Cell Biology, University of Chicago, Chicago, Illinois, USA
    J Clin Invest 114:1577-85. 2004
    ..The inability of BM-SP cells to express this protein severely limits their utility for cardiac and skeletal muscle regeneration...
  55. ncbi request reprint Powerful genes--myostatin regulation of human muscle mass
    Elizabeth M McNally
    Department of Medicine, University of Chicago, Chicago, USA
    N Engl J Med 350:2642-4. 2004
  56. pmc Mice lacking sulfonylurea receptor 2 (SUR2) ATP-sensitive potassium channels are resistant to acute cardiovascular stress
    Douglas Stoller
    Committee on Cell Physiology, The University of Chicago, Chicago, IL 60637, USA
    J Mol Cell Cardiol 43:445-54. 2007
    ..We conclude that conventional sarcolemmal cardiomyocyte K(ATP) channels containing full-length SUR2 are not required for mediating the response to acute cardiovascular stress...
  57. ncbi request reprint Regenerating more than muscle in muscular dystrophy
    Ahlke Heydemann
    Circulation 110:3290-2. 2004
  58. ncbi request reprint Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function
    Pascal N Bernatchez
    Department of Pharmacology and Vascular Biology and Transplantation Program, Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, Connecticut 06536, USA
    J Biol Chem 282:30745-53. 2007
    ..These data are the first to report novel biological activities for myoferlin and reveal the role of membrane integrity to VEGF signaling...
  59. ncbi request reprint Beta-myosin heavy chain gene mutations in familial hypertrophic cardiomyopathy: the usual suspect?
    Elizabeth M McNally
    Circ Res 90:246-7. 2002
  60. doi request reprint Sarcomere mutations in cardiomyopathy, noncompaction, and the developing heart
    Lisa Dellefave
    Circulation 117:2847-9. 2008
  61. pmc Age-dependent effect of myostatin blockade on disease severity in a murine model of limb-girdle muscular dystrophy
    Stephanie A Parsons
    Cincinnati Children s Hospital Medical Center, 3333 Burnet Ave, ML7020, Cincinnati, OH 45229 3039, USA
    Am J Pathol 168:1975-85. 2006
    ..These findings suggest that MSTN inhibition may benefit muscular dystrophy when instituted early or if disease is relatively mild but that MSTN inhibition in severely affected or late-stage disease may be ineffective...
  62. ncbi request reprint Duchenne muscular dystrophy: how bad is the heart?
    Elizabeth M McNally
    Heart 94:976-7. 2008
  63. ncbi request reprint Nesprin-1alpha contributes to the targeting of mAKAP to the cardiac myocyte nuclear envelope
    Genevieve C Pare
    Department of Pediatrics, Heart Research Center, Oregon Health and Science University, NRC5, 3181 S W Sam Jackson Park Road, Portland, OR 97239, USA
    Exp Cell Res 303:388-99. 2005
    ..In turn, overexpression of these spectrin repeat domains in myocytes can displace mAKAP from nesprin-1alpha...
  64. pmc Genetic disruption of calcineurin improves skeletal muscle pathology and cardiac disease in a mouse model of limb-girdle muscular dystrophy
    Stephanie A Parsons
    Department of Pediatrics, University of Cincinnati, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    J Biol Chem 282:10068-78. 2007
    ..Our results suggest that inhibition of Cn may benefit select types of muscular dystrophy...
  65. ncbi request reprint Myostatin blockade improves function but not histopathology in a murine model of limb-girdle muscular dystrophy 2C
    Sasha Bogdanovich
    Department of Physiology and Pennsylvania Muscle Institute, University of Pennsylvania School of Medicine, 3700 Hamilton Walk, Philadelphia, PA 19104 6085, USA
    Muscle Nerve 37:308-16. 2008
    ....

Research Grants36

  1. New Directions in Biology and Disease of Skeletal Muscle
    Elizabeth McNally; Fiscal Year: 2006
    ..In addition, there will be two poster sessions. Trainees are strongly encouraged to attend and participate. ..
  2. SARCOGLYCAN IN MYOPATHY AND MUSCLE MEMBRANE STABILITY
    Elizabeth McNally; Fiscal Year: 2007
    ..These findings will improve our understanding of the cellular defects in muscular dystrophy and cardiomyopathy and may help devise new strategies for therapy. ..
  3. CARDIOVASCULAR SCIENCES TRAINING GRANT
    Elizabeth McNally; Fiscal Year: 2007
    ..The training program is directed by Elizabeth McNally, M.D., Ph.D. Dr. McNally is an Associate Professor who serves as the Director of Cardiovascular Research. Dr...
  4. Sulfonylurea KATP channels in vascular spasm
    Elizabeth McNally; Fiscal Year: 2009
    ..We will also study the role of cardiac and vascular smooth muscle KATP channels in mediating the response to acute adrenergically mediated stress. ..
  5. SARCOGLYCAN IN MYOPATHY AND MUSCLE MEMBRANE STABILITY
    Elizabeth M McNally; Fiscal Year: 2010
    ....
  6. Myoferlin in Muscle Membrane Fusion and Repair
    Elizabeth McNally; Fiscal Year: 2009
    ..Understanding this pathway will guide the design of new therapies to promote muscle growth and repair in disease and aging. ..
  7. Nuclear membrane protein interaction in heart and muscle disease
    Elizabeth M McNally; Fiscal Year: 2010
    ..My laboratory is interesting in determining how changing the nuclear membrane leads to muscle disease. ..
  8. Myoferlin in Muscle Membrane Fusion and Repair
    Elizabeth M McNally; Fiscal Year: 2010
    ..Understanding this pathway will guide the design of new therapies to promote muscle growth and repair in disease and aging. ..
  9. Myoferlin in Muscle Membrane Fusion and Repair
    Elizabeth McNally; Fiscal Year: 2006
    ..Significance: These experiments are designed to improve our understanding membrane fusion in muscle. Membrane fusion in muscle is relevant to diseases such as muscular dystrophy and also to the normal aging process of muscle. ..
  10. GENETICS STUDIES OF FAMILIAL DILATED CARDIOMYOPATHY
    Elizabeth McNally; Fiscal Year: 2003
    ..By developing genetic markers, we will identify those at risk for arrhythmia and most like to benefit from pacemaker and/or implantable defibrillator treatment. ..
  11. SARCOGLYCAN IN MYOPATHY AND MUSCLE MEMBRANE STABILITY
    Elizabeth McNally; Fiscal Year: 2003
    ..abstract_text> ..
  12. GENE EXPRESSION IN LIMB GIRDLE MUSCULAR DYSTROPHY
    Elizabeth McNally; Fiscal Year: 2004
    ..Together, these experiments will outline the temporal profile of gene expression changes that arise in these disorders. ..
  13. Conference on Molecular Biology of Cardiac Diseases
    Elizabeth McNally; Fiscal Year: 2005
    ..The small format and topic of this meeting is unique and will allow senior and junior investigators along with trainees to interact productively in an exchange of information. ..
  14. SARCOGLYCAN IN MYOPATHY AND MUSCLE MEMBRANE STABILITY
    Elizabeth M McNally; Fiscal Year: 2011
    ..We are conducting genetic studies to identify genes that improve muscular dystrophy because knowing these regions will help us predict better how patients will fare and also because these regions may point to new pathways for therapy. ..