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Items: 27


A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping.

Demonbreun AR, Wyatt EJ, Fallon KS, Oosterbaan CC, Page PG, Hadhazy M, Quattrocelli M, Barefield DY, McNally EM.

Dis Model Mech. 2019 Nov 4;13(2). pii: dmm040832. doi: 10.1242/dmm.040832.


Recombinant annexin A6 promotes membrane repair and protects against muscle injury.

Demonbreun AR, Fallon KS, Oosterbaan CC, Bogdanovic E, Warner JL, Sell JJ, Page PG, Quattrocelli M, Barefield DY, McNally EM.

J Clin Invest. 2019 Nov 1;129(11):4657-4670. doi: 10.1172/JCI128840.


Deletion of Sulfonylurea Receptor 2 in the Adult Myocardium Enhances Cardiac Glucose Uptake and Is Cardioprotective.

Aubert G, Barefield DY, Demonbreun AR, Ramratnam M, Fallon KS, Warner JL, Rossi AE, Hadhazy M, Makielski JC, McNally EM.

JACC Basic Transl Sci. 2019 Apr 29;4(2):251-268. doi: 10.1016/j.jacbts.2018.11.012. eCollection 2019 Apr.


Dusp6 is a genetic modifier of growth through enhanced ERK activity.

Vo AH, Swaggart KA, Woo A, Gao QQ, Demonbreun AR, Fallon KS, Quattrocelli M, Hadhazy M, Page PGT, Chen Z, Eskin A, Squire K, Nelson SF, McNally EM.

Hum Mol Genet. 2019 Jan 15;28(2):279-289. doi: 10.1093/hmg/ddy349.


"Of Mice and Measures": A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic.

Gordish-Dressman H, Willmann R, Dalle Pazze L, Kreibich A, van Putten M, Heydemann A, Bogdanik L, Lutz C, Davies K, Demonbreun AR, Duan D, Elsey D, Fukada SI, Girgenrath M, Patrick Gonzalez J, Grounds MD, Nichols A, Partridge T, Passini M, Sanarica F, Schnell FJ, Wells DJ, Yokota T, Young CS, Zhong Z, Spurney C, Spencer M, De Luca A, Nagaraju K, Aartsma-Rus A.

J Neuromuscul Dis. 2018;5(4):407-417. doi: 10.3233/JND-180324.


Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers.

Wyatt EJ, Demonbreun AR, Kim EY, Puckelwartz MJ, Vo AH, Dellefave-Castillo LM, Gao QQ, Vainzof M, Pavanello RCM, Zatz M, McNally EM.

JCI Insight. 2018 May 3;3(9). pii: 99357. doi: 10.1172/jci.insight.99357.


Genetic modifiers of muscular dystrophy act on sarcolemmal resealing and recovery from injury.

Quattrocelli M, Capote J, Ohiri JC, Warner JL, Vo AH, Earley JU, Hadhazy M, Demonbreun AR, Spencer MJ, McNally EM.

PLoS Genet. 2017 Oct 24;13(10):e1007070. doi: 10.1371/journal.pgen.1007070. eCollection 2017 Oct.


Intermittent Glucocorticoid Dosing Improves Muscle Repair and Function in Mice with Limb-Girdle Muscular Dystrophy.

Quattrocelli M, Salamone IM, Page PG, Warner JL, Demonbreun AR, McNally EM.

Am J Pathol. 2017 Nov;187(11):2520-2535. doi: 10.1016/j.ajpath.2017.07.017. Epub 2017 Aug 18.


Intermittent glucocorticoid steroid dosing enhances muscle repair without eliciting muscle atrophy.

Quattrocelli M, Barefield DY, Warner JL, Vo AH, Hadhazy M, Earley JU, Demonbreun AR, McNally EM.

J Clin Invest. 2017 Jun 1;127(6):2418-2432. doi: 10.1172/JCI91445. Epub 2017 May 8.


Muscle cell communication in development and repair.

Demonbreun AR, McNally EM.

Curr Opin Pharmacol. 2017 Jun;34:7-14. doi: 10.1016/j.coph.2017.03.008. Epub 2017 Apr 15. Review.


An actin-dependent annexin complex mediates plasma membrane repair in muscle.

Demonbreun AR, Quattrocelli M, Barefield DY, Allen MV, Swanson KE, McNally EM.

J Cell Biol. 2016 Jun 20;213(6):705-18. doi: 10.1083/jcb.201512022. Epub 2016 Jun 13.


Enhanced Muscular Dystrophy from Loss of Dysferlin Is Accompanied by Impaired Annexin A6 Translocation after Sarcolemmal Disruption.

Demonbreun AR, Allen MV, Warner JL, Barefield DY, Krishnan S, Swanson KE, Earley JU, McNally EM.

Am J Pathol. 2016 Jun;186(6):1610-22. doi: 10.1016/j.ajpath.2016.02.005. Epub 2016 Apr 9.


Plasma Membrane Repair in Health and Disease.

Demonbreun AR, McNally EM.

Curr Top Membr. 2016;77:67-96. doi: 10.1016/bs.ctm.2015.10.006. Epub 2015 Nov 27. Review.


DNA Electroporation, Isolation and Imaging of Myofibers.

Demonbreun AR, McNally EM.

J Vis Exp. 2015 Dec 23;(106):e53551. doi: 10.3791/53551.


Membrane fusion in muscle development and repair.

Demonbreun AR, Biersmith BH, McNally EM.

Semin Cell Dev Biol. 2015 Sep;45:48-56. doi: 10.1016/j.semcdb.2015.10.026. Epub 2015 Oct 30. Review.


Reengineering a transmembrane protein to treat muscular dystrophy using exon skipping.

Gao QQ, Wyatt E, Goldstein JA, LoPresti P, Castillo LM, Gazda A, Petrossian N, Earley JU, Hadhazy M, Barefield DY, Demonbreun AR, Bönnemann C, Wolf M, McNally EM.

J Clin Invest. 2015 Nov 2;125(11):4186-95. doi: 10.1172/JCI82768. Epub 2015 Oct 12.


Eps 15 Homology Domain (EHD)-1 Remodels Transverse Tubules in Skeletal Muscle.

Demonbreun AR, Swanson KE, Rossi AE, Deveaux HK, Earley JU, Allen MV, Arya P, Bhattacharyya S, Band H, Pytel P, McNally EM.

PLoS One. 2015 Sep 1;10(9):e0136679. doi: 10.1371/journal.pone.0136679. eCollection 2015.


GRAF1 deficiency blunts sarcolemmal injury repair and exacerbates cardiac and skeletal muscle pathology in dystrophin-deficient mice.

Lenhart KC, O'Neill TJ 4th, Cheng Z, Dee R, Demonbreun AR, Li J, Xiao X, McNally EM, Mack CP, Taylor JM.

Skelet Muscle. 2015 Aug 21;5:27. doi: 10.1186/s13395-015-0054-6. eCollection 2015.


Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair.

Swaggart KA, Demonbreun AR, Vo AH, Swanson KE, Kim EY, Fahrenbach JP, Holley-Cuthrell J, Eskin A, Chen Z, Squire K, Heydemann A, Palmer AA, Nelson SF, McNally EM.

Proc Natl Acad Sci U S A. 2014 Apr 22;111(16):6004-9. doi: 10.1073/pnas.1324242111. Epub 2014 Apr 9.


Dynamin 2 the rescue for centronuclear myopathy.

Demonbreun AR, McNally EM.

J Clin Invest. 2014 Mar;124(3):976-8. doi: 10.1172/JCI74434. Epub 2014 Feb 24.


EHD1 mediates vesicle trafficking required for normal muscle growth and transverse tubule development.

Posey AD Jr, Swanson KE, Alvarez MG, Krishnan S, Earley JU, Band H, Pytel P, McNally EM, Demonbreun AR.

Dev Biol. 2014 Mar 15;387(2):179-90. doi: 10.1016/j.ydbio.2014.01.004. Epub 2014 Jan 17.


Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity.

Demonbreun AR, Rossi AE, Alvarez MG, Swanson KE, Deveaux HK, Earley JU, Hadhazy M, Vohra R, Walter GA, Pytel P, McNally EM.

Am J Pathol. 2014 Jan;184(1):248-59. doi: 10.1016/j.ajpath.2013.09.009. Epub 2013 Oct 29.


Endocytic recycling proteins EHD1 and EHD2 interact with fer-1-like-5 (Fer1L5) and mediate myoblast fusion.

Posey AD Jr, Pytel P, Gardikiotes K, Demonbreun AR, Rainey M, George M, Band H, McNally EM.

J Biol Chem. 2011 Mar 4;286(9):7379-88. doi: 10.1074/jbc.M110.157222. Epub 2010 Dec 22.


Impaired muscle growth and response to insulin-like growth factor 1 in dysferlin-mediated muscular dystrophy.

Demonbreun AR, Fahrenbach JP, Deveaux K, Earley JU, Pytel P, McNally EM.

Hum Mol Genet. 2011 Feb 15;20(4):779-89. doi: 10.1093/hmg/ddq522. Epub 2010 Dec 1.


Myoferlin regulation by NFAT in muscle injury, regeneration and repair.

Demonbreun AR, Lapidos KA, Heretis K, Levin S, Dale R, Pytel P, Svensson EC, McNally EM.

J Cell Sci. 2010 Jul 15;123(Pt 14):2413-22. doi: 10.1242/jcs.065375. Epub 2010 Jun 22.


Myoferlin is required for insulin-like growth factor response and muscle growth.

Demonbreun AR, Posey AD, Heretis K, Swaggart KA, Earley JU, Pytel P, McNally EM.

FASEB J. 2010 Apr;24(4):1284-95. doi: 10.1096/fj.09-136309. Epub 2009 Dec 11.


The endocytic recycling protein EHD2 interacts with myoferlin to regulate myoblast fusion.

Doherty KR, Demonbreun AR, Wallace GQ, Cave A, Posey AD, Heretis K, Pytel P, McNally EM.

J Biol Chem. 2008 Jul 18;283(29):20252-60. doi: 10.1074/jbc.M802306200. Epub 2008 May 23.

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