Alexis R Demonbreun

  • 706 Citations
20052020

Research output per year

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Research Output

  • 706 Citations
  • 28 Article
  • 3 Review article
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Article
2020

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

Demonbreun, A. R., Wyatt, E. J., Fallon, K. S., Oosterbaan, C. C., Page, P. G., Hadhazy, M., Quattrocelli, M., Barefield, D. Y. & McNally, E. M., Jan 1 2020, In : DMM Disease Models and Mechanisms. 13, 2, dmm040832.

Research output: Contribution to journalArticle

Open Access
2019

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

Aubert, G., Barefield, D. Y., Demonbreun, A. R., Ramratnam, M., Fallon, K. S., Warner, J. L., Rossi, A. E., Hadhazy, M., Makielski, J. C. & McNally, E. M., Apr 1 2019, In : JACC: Basic to Translational Science. 4, 2, p. 251-268 18 p.

Research output: Contribution to journalArticle

Open Access

Distinct pathological signatures in human cellular models of myotonic dystrophy subtypes

Kim, E. Y., Barefield, D. Y., Vo, A. H., Gacita, A. M., Schuster, E. J., Wyatt, E. J., Davis, J. L., Dong, B., Sun, C., Page, P., Dellefave-Castillo, L., Demonbreun, A., Zhang, H. F. & McNally, E. M., Mar 21 2019, In : JCI Insight. 4, 6, 122686.

Research output: Contribution to journalArticle

Open Access
4 Scopus citations

Dusp6 is a genetic modifier of growth through enhanced ERK activity

Vo, A. H., Swaggart, K. A., Woo, A., Gao, Q. Q., Demonbreun, A. R., Fallon, K. S., Quattrocelli, M., Hadhazy, M., Page, P. G. T., Chen, Z., Eskin, A., Squire, K., Nelson, S. F. & McNally, E. M., Jan 15 2019, In : Human molecular genetics. 28, 2, p. 279-289 11 p.

Research output: Contribution to journalArticle

1 Scopus citations

Pulsed glucocorticoids enhance dystrophic muscle performance through epigenetic-metabolic reprogramming

Quattrocelli, M., Zelikovich, A. S., Jiang, Z., Peek, C. B., Demonbreun, A. R., Kuntz, N. L., Barish, G. D., Haldar, S. M., Bass, J. & McNally, E. M., Dec 19 2019, In : JCI Insight. 4, 24, e132402.

Research output: Contribution to journalArticle

Open Access

Recombinant annexin A6 promotes membrane repair and protects against muscle injury

Demonbreun, A. R., Fallon, K. S., Oosterbaan, C. C., Bogdanovic, E., Warner, J. L., Sell, J. J., Page, P. G., Quattrocelli, M., Barefield, D. Y. & McNally, E. M., Nov 1 2019, In : Journal of Clinical Investigation. 129, 11, p. 4657-4670 14 p.

Research output: Contribution to journalArticle

Open Access
2018

Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers

Wyatt, E. J., Demonbreun, A. R., Kim, E. Y., Puckelwartz, M. J., Vo, A. H., Dellefave-Castillo, L. M., Gao, Q. Q., Vainzof, M., Pavanello, R. C. M., Zatz, M. & McNally, E. M., May 3 2018, In : JCI Insight. 3, 9

Research output: Contribution to journalArticle

Open Access
4 Scopus citations
2017

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

Quattrocelli, M., Capote, J., Ohiri, J. C., Warner, J. L., Vo, A. H., Earley, J. U., Hadhazy, M., Demonbreun, A. R., Spencer, M. J. & McNally, E. M., Oct 2017, In : PLoS genetics. 13, 10, e1007070.

Research output: Contribution to journalArticle

6 Scopus citations

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

Quattrocelli, M., Salamone, I. M., Page, P. G., Warner, J. L., Demonbreun, A. R. & McNally, E. M., Nov 2017, In : American Journal of Pathology. 187, 11, p. 2520-2535 16 p.

Research output: Contribution to journalArticle

16 Scopus citations

Intermittent glucocorticoid steroid dosing enhances muscle repair without eliciting muscle atrophy

Quattrocelli, M., Barefield, D. Y., Warner, J. L., Vo, A. H., Hadhazy, M., Earley, J. U., Demonbreun, A. R. & McNally, E. M., Jun 1 2017, In : Journal of Clinical Investigation. 127, 6, p. 2418-2432 15 p.

Research output: Contribution to journalArticle

31 Scopus citations
2016

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

Demonbreun, A. R., Quattrocelli, M., Barefield, D. Y., Allen, M. V., Swanson, K. E. & McNally, E. M., Jan 1 2016, In : Journal of Cell Biology. 213, 6, p. 705-718 14 p.

Research output: Contribution to journalArticle

53 Scopus citations

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

Demonbreun, A. R., Allen, M. V., Warner, J. L., Barefield, D. Y., Krishnan, S., Swanson, K. E., Earley, J. U. & McNally, E. M., Jun 1 2016, In : American Journal of Pathology. 186, 6, p. 1610-1622 13 p.

Research output: Contribution to journalArticle

14 Scopus citations

Plasma Membrane Repair in Health and Disease

Demonbreun, A. R. & McNally, E. M., Jan 1 2016, In : Current topics in membranes. 77, p. 67-96 30 p.

Research output: Contribution to journalArticle

24 Scopus citations
2015

DNA electroporation, isolation and imaging of myofibers

Demonbreun, A. R. & McNally, E. M., Dec 23 2015, In : Journal of Visualized Experiments. 2015, 106, e53551.

Research output: Contribution to journalArticle

9 Scopus citations

Eps 15 homology domain (EHD)-1 remodels transverse tubules in skeletal muscle

Demonbreun, A. R., Swanson, K. E., Rossi, A. E., Deveaux, H. K., Earley, J. U., Allen, M. V., Arya, P., Bhattacharyya, S., Band, H., Pytel, P. & McNally, E. M., Sep 1 2015, In : PloS one. 10, 9, e0136679.

Research output: Contribution to journalArticle

8 Scopus citations

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

Lenhart, K. C., O'Neill, T. J., Cheng, Z., Dee, R., Demonbreun, A. R., Li, J., Xiao, X., McNally, E. M., Mack, C. P. & Taylor, J. M., Aug 21 2015, In : Skeletal Muscle. 5, 1, 27.

Research output: Contribution to journalArticle

6 Scopus citations

Reengineering a transmembrane protein to treat muscular dystrophy using exon skipping

Gao, Q. Q., Wyatt, E., Goldstein, J. A., LoPresti, P., Castillo, L. M., Gazda, A., Petrossian, N., Earley, J. U., Hadhazy, M., Barefield, D. Y., Demonbreun, A. R., Bönnemann, C., Wolf, M. & McNally, E. M., Nov 2 2015, In : Journal of Clinical Investigation. 125, 11, p. 4186-4195 10 p.

Research output: Contribution to journalArticle

19 Scopus citations
2014

Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair

Swaggart, K. A., Demonbreun, A. R., Vo, A. H., Swanson, K. E., Kim, E. Y., Fahrenbach, J. P., Holley-Cuthrell, J., Eskin, A., Chen, Z., Squire, K., Heydemann, A., Palmer, A. A., Nelson, S. F. & McNally, E. M., Apr 22 2014, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 16, p. 6004-6009 6 p.

Research output: Contribution to journalArticle

69 Scopus citations

Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity

Demonbreun, A. R., Rossi, A. E., Alvarez, M. G., Swanson, K. E., Deveaux, H. K., Earley, J. U., Hadhazy, M., Vohra, R., Walter, G. A., Pytel, P. & McNally, E. M., Jan 1 2014, In : American Journal of Pathology. 184, 1, p. 248-259 12 p.

Research output: Contribution to journalArticle

35 Scopus citations

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

Posey, A. D., Swanson, K. E., Alvarez, M. G., Krishnan, S., Earley, J. U., Band, H., Pytel, P., McNally, E. M. & Demonbreun, A. R., Mar 15 2014, In : Developmental Biology. 387, 2, p. 179-190 12 p.

Research output: Contribution to journalArticle

28 Scopus citations
2011

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

Posey, A. D., Pytel, P., Gardikiotes, K., Demonbreun, A. R., Rainey, M., George, M., Band, H. & McNally, E. M., Mar 4 2011, In : Journal of Biological Chemistry. 286, 9, p. 7379-7388 10 p.

Research output: Contribution to journalArticle

34 Scopus citations

Ferlin proteins in myoblast fusion and muscle growth

Posey, A. D., Demonbreun, A. & McNally, E. M., May 30 2011, In : Current Topics in Developmental Biology. 96, p. 203-230 28 p.

Research output: Contribution to journalArticle

39 Scopus citations

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

Demonbreun, A. R., Fahrenbach, J. P., Deveaux, K., Earley, J. U., Pytel, P. & McNally, E. M., Feb 1 2011, In : Human molecular genetics. 20, 4, p. 779-789 11 p., ddq522.

Research output: Contribution to journalArticle

51 Scopus citations
2010

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

Demonbreun, A. R., Posey, A. D., Heretis, K., Swaggart, K. A., Earley, J. U., Pytel, P. & McNally, E. M., Apr 1 2010, In : FASEB Journal. 24, 4, p. 1284-1295 12 p.

Research output: Contribution to journalArticle

37 Scopus citations

Myoferlin regulation by NFAT in muscle injury, regeneration and repair

Demonbreun, A. R., Lapidos, K. A., Heretis, K., Levin, S., Dale, R., Pytel, P., Svensson, E. C. & McNally, E. M., Jul 15 2010, In : Journal of cell science. 123, 14, p. 2413-2422 10 p.

Research output: Contribution to journalArticle

29 Scopus citations
2008

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

Doherty, K. R., Demonbreun, A. R., Wallace, G. Q., Cave, A., Posey, A. D., Heretis, K., Pytel, P. & McNally, E. M., Jul 18 2008, In : Journal of Biological Chemistry. 283, 29, p. 20252-20260 9 p.

Research output: Contribution to journalArticle

71 Scopus citations
2007

Nuclear sequestration of δ-sarcoglycan disrupts the nuclear localization of lamin A/C and emerin in cardiomyocytes

Heydemann, A., Demonbreun, A., Hadhazy, M., Earley, J. U. & McNally, E. M., Feb 15 2007, In : Human molecular genetics. 16, 4, p. 355-363 9 p.

Research output: Contribution to journalArticle

17 Scopus citations
2005

Genetic background influences muscular dystrophy

Heydemann, A., Huber, J. M., Demonbreun, A., Hadhazy, M. & McNally, E. M., Oct 1 2005, In : Neuromuscular Disorders. 15, 9-10, p. 601-609 9 p.

Research output: Contribution to journalArticle

54 Scopus citations