Kothary Lab

Rashmi Kothary profile picture

Contact Information

Rashmi Kothary, Ph.D.

Lab Tel: 613-739-6634

Heidi Hickey
Research Administrative Assistant
Tel: 613-737-8899 x72794
Email: hhickey@ohri.ca

ORCID logo https://orcid.org/0000-0002-9239-7310


Selected Publications

Base editing as a genetic treatment for spinal muscular atrophy. Alves CRR, Ha LL, Yaworski R, Lazzarotto CR, Christie KA, Reilly A, Beauvais A, Doll RM, de la Cruz D, Maguire CA, Swoboda KJ, Tsai SQ, Kothary R, Kleinstiver BP. bioRxiv. 2023 Jan 21:2023.01.20.524978. doi: 10.1101/2023.01.20.524978. Preprint. PMID: 36711797 Free PMC article.

Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy. Reilly A, Deguise MO, Beauvais A, Yaworski R, Thebault S, Tessier DR, Tabard-Cossa V, Hensel N, Schneider BL, Kothary R. Gene Ther. 2022 Sep;29(9):544-554. doi: 10.1038/s41434-022-00338-1. Epub 2022 Apr 25. PMID: 35462564

SMN Depleted Mice Offer a Robust and Rapid Onset Model of Nonalcoholic Fatty Liver Disease. Deguise MO, Pileggi C, De Repentigny Y, Beauvais A, Tierney A, Chehade L, Michaud J, Llavero-Hurtado M, Lamont D, Atrih A, Wishart TM, Gillingwater TH, Schneider BL, Harper ME, Parson SH, Kothary R. Cell Mol Gastroenterol Hepatol. 2021;12(1):354-377.e3. doi: 10.1016/j.jcmgh.2021.01.019. Epub 2021 Feb 2. PMID: 33545428 Free PMC article.

MiRNA-145-5p prevents differentiation of oligodendrocyte progenitor cells by regulating expression of myelin gene regulatory factor. Kornfeld SF, Cummings SE, Fathi S, Bonin SR, Kothary R. J Cell Physiol. 2021 Feb;236(2):997-1012. doi: 10.1002/jcp.29910. Epub 2020 Jun 30. PMID: 32602617

Inhibitory milieu at the multiple sclerosis lesion site and the challenges for remyelination. Galloway DA, Gowing E, Setayeshgar S, Kothary R. Glia. 2020 May;68(5):859-877. doi: 10.1002/glia.23711. Epub 2019 Aug 23. PMID: 31441132 Review.

All Other Publications

All Other Publications

1. Kothary, R.K., and Candido, E.P.M. (1982). Induction of a novel set of polypeptides by heat shock or sodium arsenite in cultured cells of rainbow trout, Salmogairdnerri. Can. J. Biochem.60, 347-355.

2. Kothary, R.K., Jones, D., and Candido, E.P.M. (1984). The 70kD heat shock polypeptides from rainbow trout: characterization of cDNA sequences. Mol. Cell. Biol. 4, 1785-1791.

3. Kothary, R.K., Burgess, E.A., and Candido, E.P.M. (1984). The heat shock phenomenon in cultured cells of the rainbow trout: Hsp70 mRNA synthesis and turnover. Biochim. Biophys. Acta. 783, 137-143.

4. Burgess, E.A., Kothary, R.K., and Candido, E.P.M. (1984). Inducibility of heat shock polypeptides in cells containing hyperacetylated histones.Exp. Cell Res.155, 273-277.

5. Kothary, R.K., Jones, D., and Candido, E.P.M. (1985). IS186: an Escherichia coli insertion element isolated from a cDNA library. J. Bacteriology 164, 957-959.

6. Huszar, D., Balling, R., Kothary, R.K., Magli, M.C., Hozumi, N., Rossant, J., and Bernstein, A. (1985). Insertion of a bacterial gene into the mouse germ line using an infectious retrovirus vector. Proc.Natl. Acad. Sci. U.S.A.82, 8587-8591.

7. Kothary, R.K., Perry, M.D., Moran, L.A., and Rossant, J. (1987). Cell lineage specific expression of the mouse hsp68 gene during embryogenesis. Dev. Biol.121, 342-348.

8. Varmuza, S., Prideaux, V., Kothary, R.K., and Rossant, J. (1988). Polytene chromosomes in mouse trophoblast giant cells.Development102, 127-134.

9. Kothary, R.K., Clapoff, S., Brown, A., Campbell, R., Peterson, A., and Rossant, J. (1988). A transgene containing lacZ inserted into the dystonia locus is expressed in neural tube. Nature (London) 335, 435-437.

10. Kothary, R.K., Clapoff, S., Darling, S., Perry, M.D., Moran, L.A., and Rossant, J. (1989). Inducible expression of an hsp68-lacZ hybrid gene in transgenic mice.Development105, 707-714.

11. Kothary, R.K., Allen, N.D., and Surani, M.A.H. (1989). Transgenes as molecular probes of mammalian developmental genetics.In Oxford Surveys on Eukaryotic Genes. 6 (ed. N. Maclean), pp. 145-178. Oxford University Press, Oxford.

12. Kothary, R.K. (1989). Use of transgenes to identify developmentally regulated loci in the mouse genome. In In Vitro Approaches to Mammalian Gamete Maturation and Embryonic Development. (eds. A. Lauria and F. Gandolfi), pp. 63-69. Christengraf, Rome.

13. Surani, M.A., Kothary, R.K., Allen, N.D., Singh, P.B., Fundele, R., Ferguson-Smith, A.C., and Barton, S.C. (1990). Genome imprinting and development in the mouse.Development (Suppl.)110, 89-98.

14. Singh, P.B., Miller, J.R., Pearce, J., Kothary, R.K., Burton, R.D., Paro, R., James, T.C., and Gaunt, S.J. (1991). A sequence motif found in a Drosophila heterochromatin protein is conserved in animals and plants. Nucleic Acids Res. 19, 789-794.

15. Kothary, R.K., Barton, S.C., Franz, T., Norris, M.L., Hettle, S., and Surani, M.A.H. (1991). An unusual cell specific expression of a major human cytomegalovirus immediate early gene promoter-lacZ hybrid gene in transgenic mouse embryos.Mechanisms ofDevelopment 35, 25-31.

16. Fundele, R.F., Howlett, S.K., Kothary, R.K., Mills, W.E., and Surani, M.A. (1991). Developmental potential of parthenogenetic cells: Role of genotype-specific modifiers. Development113, 941-946.

17. Jagerbauer, E-M., Fraser, A., Herbst, E.W., Kothary, R.K., and Fundele, R.F. (1992). Parthenogenetic stem cells in postnatal mouse chimeras.Development 116, 95-102.

18. Kothary, R.K., Allen, N.D., Barton, S.C., Norris, M., and Surani, M.A. (1992). Factors affecting cellular mosaicism in the expression of a lacZ transgene in two-cell stage mouse embryos. Biochem. Cell Biol.70, 1097-1104.

19. Franz, T. and Kothary, R.K. (1993). Characterization of the neural crest defect in Splotch(Sp1H) mutant mice using a lacZ transgene.Developmental Brain Research72, 99-105.

20. Franz, T., Kothary, R., Surani, M.A.H., Halata, Z., and Grim, M. (1993). The Splotch mutation interferes with muscle development in the limbs. Anat. Embryol.187, 153-160.

21. Brown, A.B., Copeland, N., Gilbert, D.J., Jenkins, N.A., Rossant, J., and Kothary, R.K.(1994). The genomic structure of an insertional mutation in the dystonia musculorum locus.Genomics 20, 371-376.

22. Brown, A.B., Lemieux, N., Rossant, J., and Kothary, R.K. (1994). Human homolog of a mouse sequence from the dystonia musculorum locus is on Chromosome 6p12. Mammalian Genome 5, 434-437.

23. Bérard, J., Gaboury, L., Landers, M., De Repentigny, Y., Houle, B., Kothary, R., and Bradley, W.E.C. (1994). Hyperplasia and tumors in lung, breast and other tissues in mice carrying a RARß4-like transgene.EMBO J. 13, 5570-5580.

24. Bender, R., Surani, M.A.H., Kothary, R., Li, L-L., Fürst, D.O., Christ, B., and Fundele, R. (1995). Tissue specific loss of proliferative capacity of parthenogenetic cells in fetal mouse chimeras.Roux's Archives of Developmental Biology204, 436-443.

25. Brown, A., Bernier, G., Mathieu, M., Rossant, J., and Kothary, R. (1995). The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1. Nature Genetics 10, 301-306.

26. Brown, A., Dalpé, G., Mathieu, M., and Kothary, R. (1995). Cloning and characterization of the neural isoforms of human dystonin.Genomics29, 777-780.

27. Sévigny, G., Kothary, R., Tremblay, E., De Repentigny, Y., Joly, E.C., and Bibor-Hardy, V. (1995). The cytosolic chaperonin subunit TRiC-P5 begins to be expressed at the two-cell stage in mouse embryos. BBRC216, 279-283.

28. Bernier, G., Brown, A., Dalpé, G., Mathieu, M., De Repentigny, Y., and Kothary, R. (1995). Dystonin transcripts are altered and their levels are reduced in the mouse neurological mutant dt24J. Biochem. Cell Biol. 73, 605-609.

29. Bernier, G., Brown, A., Dalpé, G., De Repentigny, Y., Mathieu, M., and Kothary, R.(1995). Dystonin expression in the developing nervous system predominates in the neurons that degenerate in dystonia musculorum mutant mice. Mol. Cell. Neurosci. 6, 509-520.

30. De Repentigny, Y., and Kothary, R. (1996). An improved method for the artificial insemination of mice - oviduct transfer of spermatozoa.Trends in Genetics12, 44-45.

31. Guy, L.-G., Kothary, R., De Repentigny, Y., Ellis, J., Delvoye, N., and Wall, L.A. (1996). The ß-globin locus control region enhances transcription of but does not confer position-independent expression onto the lacZ gene in transgenic mice. EMBO J.15, 3713-3721.

32. Bérard, J., Laboune, F., Mukuna, M., Massé, S., Kothary, R., and Bradley, W.E.C. (1996). Lung tumours in mice expressing an antisense RARß2 transgene.FASEB J. 10, 1091-1097.

33. Bernier, G., Mathieu, M., De Repentigny, Y., Vidal, S., and Kothary, R.K. (1996). Cloning and characterization of mouse ACF7, a novel member of the dystonin subfamily of actin crosslinkers. Genomics38, 19-29.

34. Dagenais, A., Kothary, R., and Berthiaume, Y. (1997). The alpha subunit of the epithelial sodium channel in the mouse: developmental regulation of its expression.Pediatr. Res. 42, 327-334.

35. Guy, L.-G., Kothary, R., and Wall, L.A. (1997). Position effects in mice carrying a lacZ transgene in cis with the ß-globin LCR can be explained by a graded model. Nuc. AcidsRes.21, 4400-4407.

36. Dalpé, G., Leclerc, N., Vallée, A., Messer, A., Mathieu, M., De Repentigny, Y., and Kothary, R. (1998). Dystonin is essential for maintaining neuronal cytoskeleton organization. Mol. Cell. Neurosci.10, 243-257.

37. Bernier, G., and Kothary, R. (1998). Prenatal onset of axonopathy in dystonia musculorum mice.Dev. Gen. 22, 160-168.

38. Bernier, G., De Repentigny, Y., Mathieu, M., David, S., and Kothary, R. (1998). Dystonin is an essential component of the Schwann cell cytoskeleton at the time of myelination. Development125, 2135-2148.

39. Krause, R., Hemberger, M., Messerschmid, M., Mayer, W., Kothary, R.,Dixkens, C., and Fundele, R. (1998). Molecular cloning and characterization of murine Mpgc60, a gene predominantly expressed in the intestinal tract.Differentiation63, 285-294.

40. Dalpé, G., Mathieu, M., Comtois, A., Zhu, E., Wasiak, S., De Repentigny, Y., Leclerc, N., and Kothary, R. (1999). Dystonin-deficient mice exhibit an intrinsic muscle weakness and an instability of muscle cytoarchitecture. Developmental Biology210, 367-380.

41. Kolodziejczyk, S.M., Wang, L., Balaszi, K., De Repentigny, Y., Kothary, R., and Megeney, L.A. (1999). MEF2 is upregulated during cardiac hypertrophy and is required for normal post-natal growth of the myocardium. Current Biology9, 1203-1206.

42. Mainguy, G., Montesinos, M.L., Lesaffre, B., Zevnik, B., Karasawa, M., Kothary, R., Wurst, W., Prochiantz, A., and Volovitch, M. (2000). An induction gene trap for identifying a homeoprotein-regulated locus. Nature Biotech. 18, 746-749.

43. Bernier, G., Pool, M., Kilcup, M., Alfoldi, J., De Repentigny, Y., and Kothary, R. (2000). Acf7 (MACF) is an actin and microtubule linker protein whose expression predominates in neural, muscle and lung development. Dev. Dyn.219, 216-225.

44. Mei, Q., Kothary, R., and Wall L. (2000). The tkNeo gene, but not the pgkPuro gene, can influence the ability of the ß-globin LCR to enhance and confer position-independent expression onto the ß-globin gene. Exp. Cell Res.260, 304-312.

45. Carlsten, J. A., Kothary, R., and Wright, D.E. (2001). GDNF- and NT-3-responsive neurons require the cytoskeletal linker protein dystonin for postnatal survival. Journal of Comparative Neurology432, 155-168.

46. De Repentigny Y., Côté P., Pool M., Bernier G., Girard S., Vidal S.M., and Kothary R., (2001).Pathological and genetic analysis of the degenerating muscle (dmu) mouse:a new allele of Scn8a.Human Molecular Genetics, 10, 1819-1827.

47. Dagenais, A., Denis, C., Vives, M.F., Girouard, S., Masse, C., Nguyen, T., Yamagata, T., Grygorcyzk, C., Kothary, R., and Berthiaume, Y. (2001).Modulation of alpha-EnaC and alpha (1)-Na (+)-K(+)-ATPase by camp and dexamethasone in alveolar epithelial cells.Am. J. Physiol. Lung Cell Mol. Physiol28, L217-30.

48. DiDonato, C., Lorson, C., De Repentigny, Y., Simard, L., Androphy, E., and Kothary, R. (2001). Regulation of murine Survival Motor Neuron (Smn) protein levels by modifying Smn exon 7 splicing. Human Molecular Genetics 10, 2727-2736.

49. Bérubé, N., Jagla, M., Smeenk, C., De Repentigny, Y., Kothary, R., and Picketts, D.(2002).Neurodevelopmental defects resulting from ATRX overexpression in Transgenic Mice. Human Molecular Genetics 11, 253-261.

50. Young, P.J., DiDonato, C.J., Hu, D., Kothary, R., Androphy, E.J., and Lorson, C.L. (2002).SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2β1.Human Mol. Genetics11, 577-587.

51. Marshall, P., Chartrand, N., De Repentigny, Y., Kothary, R., Pelletier, L., Mueller, R., and Worton, R.G. (2002). The mouse dystrophin enhancer preferentially targets lacZ expression in skeletal and cardiac muscle. Developmental Dynamics224, 30-38.

52. Campsall, K., Mazarolle, C., De Repentigny, Y., Kothary, R., and Wallace, V. (2002).Characterization of transgene expression and Cre recombinase activity in a panel of Thy1 promoter-Cre transgenic mice. Developmental Dynamics 224, 135-143.

53. Saulnier, R., De Repentigny, Y., Yong, V.W., and Kothary, R. (2002). Alterations in myelination in the central nervous system of dystonia musculorum mice. Journal of Neuroscience Research69, 233-242.

54. Boudreau-Larivière, C. and Kothary, R. (2002). Differentiation potential of primary myogenic cells derived from skeletal muscle of dystonia musculorum mice.Differentiation70, 247-256.

55. DiDonato, C. J., Parks, R. J., and Kothary, R. (2003). Development of a gene therapy strategy for the restoration of survival motor neuron (SMN) expression: implications for SMA therapy. Human Gene Therapy14, 179-188.

56. Lee, S. H., Zafer, A., De Repentigny, Y., Kothary, R., Tremblay, M., Gros, P., Duplay, P., Webb, J. R., and Vidal, S. M. (2003). Transgenic expression of the activating natural killer receptor Ly49H confers resistance to cytomegalovirus in genetically susceptible mice.J. Exp. Medicine197, 515-526.

57. Young, K., Pool, M., and Kothary, R. (2003). Bpag1 localization to actin filaments and to the nucleus is regulated by its N-terminus. Journal of Cell Science116, 4543-4555. (Cover figure)

58. De Repentigny, Y., Deschênes-Furry, J., Jasmin, B.J., and Kothary, R. (2003). Impaired fast axonal transport in neurons of the sciatic nerves from dystonia musculorum mice. Journal of Neurochemistry86, 564-571.

59. De Repentigny, Y., Marshall, P., Worton, R.G., and Kothary, R. (2004). The mouse dystrophin muscle enhancer-1 imparts skeletal muscle, but not cardiac muscle, expression onto the dystrophin Purkinje promoter in transgenic mice. Human Molecular Genetics13, 2853-2862. (Cover figure)

60. Horsford, D.J., Nguyen, M-T.T., Sellar, G.C., Kothary, R., Arnheiter, H., and McInnes, R.R. (2005). Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity. Development132, 177-187.

61. Young, K., and Kothary, R. (2005). Spectrin repeat proteins in the nucleus. BioEssays27, 144-152.

62. Côté, P.D., De Repentigny, Y., Coupland, S.G., Schwab, Y., Roux, M.J., Levinson, S.R., and Kothary, R. (2005). Physiological maturation of photoreceptors depends on the voltage-gated sodium channel Nav1.6 (Scn8a). J. Neuroscience, 25, 5046-5050. (chosen for the “This week in The Journal” page)

63. Fernando, P., Ding, W., Pekalska, B., De Repentigny, Y., Kothary, R., Kelly, J.F., and Megeney, L.A. (2005). Activity dependent profiling of protein kinases and kinase substrates using mass spectrometry. Molecular and Cellular Proteomics4, 673-682.

64. Stocksley, M.A., Chakkalakal, J.V., Bradford, A., Miura, P., De Repentigny, Y., Kothary, R., and Jasmin, B.J. (2005). A 1.3 kb Promoter Fragment Confers Spatial and Temporal Expression of Utrophin A mRNA in Mouse Skeletal Muscle Fibers. Neuromuscular Disorders15, 437-449.

65. Shafey, D., Côté, P.D., and Kothary, R. (2005). Characterization of a hypomorphic series of Smn knockdown C2C12 myoblasts reveals intrinsic defects in myoblast fusion and myotube morphology.Experimental Cell Research311, 49-61.

66. Naas, T., Ghorbani, M., Alvarez-Maya, I., Lapner, M., Kothary, R., De Repentigny, Y., Gomes, S., Babiuk, L., Giulivi, A., Soare, C., Azizi, A., and Diaz-Mitoma, F. (2005). Characterization of liver histopathology in a transgenic mouse model expressing genotype 1a Hepatitis C virus core and envelope proteins 1 and 2. J. Gen. Virol.86, 2185-2196.

67. Stocksley, M.A., Chakkalakal, J.V., Bradford, A., Miura, P., De Repentigny, Y., Kothary, R., and Jasmin, B.J. (2005). Regulation of utrophin in transgenic mice. Letter in response to Professor K. E. Davies. Neuromuscular Disorders15, 648-649.

68. Pool, M., Boudreau-Larivière, C., Bernier, G., Young, K.G., and Kothary, R. (2005). Genetic alterations at the Bpag1 locus in dt mice and the impact on gene expression. Mammalian Genome16, 909-917.

69. Ichikawa, H., De Repentigny, Y., Kothary, R., and Sugimoto, T. (2006). The survival of vagal and glossopharyngeal sensory neurons is dependent upon dystonin. Neuroscience137, 531-536.

70. Pool, M., McBride, H., Rippstein, P., and Kothary, R. (2006). Trafficking of molecules and organelles in cultured dystonia musculorum sensory neurons is normal. J. Comp. Neurol.494, 549-558.

71. Young, K.G., Pinheiro, B., and Kothary, R. (2006). A Bpag1 isoform involved in cytoskeletal organization surrounding the nucleus. Experimental Cell Research312, 121-134.

72. Anderson, C.L., De Repentigny, Y., Cifelli, C., Marshall, P., Renaud, J-M., Worton, R.G., and Kothary, R. (2006). The mouse dystrophin muscle promoter/enhancer is sufficient to drive expression of a mini-dystrophin in transgenic mdx mice and to eliminate the dystrophy in these mice. Molecular Therapy14, 724-734.

73. Lee, K., De Repentigny, Y., Saulnier, R., Rippstein, P., Macklin, W., and Kothary, R. (2006). Dominant-negative ?1 integrin mice have region-specific myelin defects accompanied by alterations in MAPK activity. Glia53, 836-844.

74. Karamboulas, C., Dakubo, G.D., Liu, J., De Repentigny, Y., Yutzey, K., Wallace, V.A., Kothary, R., and Skerjanc, I.S. (2006). Disruption of MEF2 activity in cardiomyoblasts inhibits cardiomyogenesis. J. Cell Sci. 119, 4315-4321.

75. Ichikawa, H., Terayama, R., Yamaai, T., De Repentigny, Y., Kothary, R., and Sugimoto, T. (2007). Dystonin deficiency reduces taste buds and fungiform papillae in the anterior part of the tongue. Brain Research 1129, 142-146.

76. Young, K.G., De Repentigny, Y., and Kothary, R. (2007). Re: "A possible cellular mechanism of neuronal loss in the dorsal root ganglia of dystonia musculorum (dt) mice". J. Neuropathol. Exp. Neurol.66, 248-249.

77. Bowerman, M., Shafey, D., and Kothary, R. (2007). Smn depletion alters Profilin II expression and leads to upregulation of the RhoA/ROCK pathway and defects in neuronal integrity.J. Mol.Neurosci. 32, 120-131.

78. Young, K.G., and Kothary, R. (2007). Dystonin/Bpag1 – a link to what? Cell Motility and the Cytoskeleton64, 897-905.

79. Knight, J.D.R., Qian, B., Baker, D., and Kothary, R. (2007). Conservation, variability and the modeling of active protein kinases. PLoS ONE2, e982.

80. Young, K.G., and Kothary, R. (2008). Dystonin/Bpag1 is a necessary endoplasmic reticulum/nuclear envelope protein in sensory neurons. Experimental Cell Research314, 2750-2761.

81. Shafey, D., MacKenzie, A., and Kothary, R. (2008). Neurodevelopmental abnormalities in neurosphere-derived neural stem cells from SMN depleted mice. J. Neurosci. Res.86, 2839-2847.

82. Ichikawa, H., Terayama, R., Yamaai, T., De Repentigny, Y., Kothary, R., and Sugimoto, T. (2008). The number of nociceptors in the trigeminal ganglion but not proprioceptors in the mesencephalic trigeminal tract nucleus is reduced in dystonin deficient dystonia musculorum mice. Brain Research1226, 33-38.

83. Mattis, V., Bowerman, M., Kothary, R., Lorson, C.L. (2008). A SMNDelta7 read-through product confers functionality to the SMNDelta7 protein. Neurosci. Lett.442, 54-58.

84. Knight, J.D.R., Hamelberg, D., McCammon, J.A., and Kothary, R. (2009). The role of conserved water molecules in the catalytic domain of protein kinases. Proteins76, 527-535.

85. Bowerman, M., Anderson, C.L., Beauvais, A., Boyl, P.P., Witke, W., Kothary, R. (2009). SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis. Mol. Cell. Neurosci.42, 66-74.

86. Fernando, P., Sandoz, J.S., Ding, W., De Repentigny, Y., Brunette, S., Kelly, J.F., Kothary, R., and Megeney, L.A. (2009). The Bin1 SH3 domain acts as a scaffold for myofiber sarcomere assembly. J. Biol. Chem. 284, 27674-27686.

87. Savory, J.G.A., Bouchard, N., Pierre, V., Rijli, F., De Repentigny, Y., Kothary, R., and Lohnes, D. (2009). Cdx2 regulation of posterior development through non-Hox targets. Development. 136, 4099-4110.

88. Michaud, J-L., Stitt, E., Endlich, N., Endlich, K., De Repentigny, Y., Kothary, R., and Kennedy, C.R.J. (2010). Mice with podocyte-specific overexpression of wild type α-actinin-4 are healthy controls for K256E-α-actinin-4 mutant transgenic mice. Transgenic Res. 19, 285-289.

89. Liu, H.O., Shafey, D., Moores, J., and Kothary, R. (2010). Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy. J. Neurosci. Res. 88, 111-122.

90. Miura, P., Coriati, A., Bélanger, G., De Repentigny, Y., Lee, J., Kothary, R., Holcik, M., and Jasmin, B.J. (2010). The utrophin A 5'UTR drives cap-independent translation exclusively in skeletal muscles of transgenic mice and interacts with eEF1A2. Hum. Mol. Gen.19, 1211-1120.

91. Bowerman, M., Beauvais, A., Anderson, C.L., and Kothary, R. (2010). Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum. Mol. Gen.19, 1468-1478.

92. *Shafey, D., *Boyer, J.G., Bhanot, K., and Kothary, R. (2010). Identification of novel interacting protein partners of SMN using Tandem AffinityPurification. J. Proteome Res.9, 1659-1669.

93. *Boyer, J.G., *Bhanot, K., Kothary, R., and Boudreau-Larivière, C. (2010). Hearts of dystonia musculorum mice display normal morphological and histological features but show signs of cardiac stress. PLOS One5, e9465.

94. Poulin, K.L., Lanthier, R.M., Smith, A.C., Christou, C., Quiroz, M.R., Powell, K.L., O'Meara, R.W., Kothary, R., Lorimer, I.A., and Parks, R.J. (2010). Retargeting of adenovirus vectors through genetic fusion of a single-chain or single-domain antibody to capsid protein IX. J. Virol.84, 10074-10086.

95. De Repentigny, Y., and Kothary, R. (2010). Production of mouse chimeras by injection of embryonic stem cells into the perivitelline space of one-cell stage embryos. Transgenic Res.19, 1137-1144.

96. Boyer, J.G., Bowerman, M., and Kothary, R.(2010). The many faces of SMN: deciphering the function critical to Spinal Muscular Atrophy Pathogenesis. Future Neurology5, 873-890.

97. Hammond, S.M., Gogliotti, R.G., Rao, V., Beauvais, A., Kothary, R., and DiDonato, C.J. (2010). Mouse survival motor neuron alleles that mimic SMN2 splicing and are inducible rescue embryonic lethality early in development but not late. PLOS One5, e15887.

98. Young, K.G., and Kothary, R. (2011). Intermediate filament interactions in neurons. Cytoskeleton of the Nervous System. Editors Ralph A. Nixon and Aidong Yuan. Advances in Neurobiology3, 379-410.

99. *Ferrier, A., *Ryan, S.D., McNally, E.M., and Kothary, R. (2011). New Directions in Biology and Disease of Skeletal Muscle, Meeting Report, 5–8 May 2010, Ottawa, Canada. Neuromuscular Disorders21, 157-159.

100. Liu, H., Beauvais, A., Baker, A.N., Tsilfidis, C., and Kothary, R. (2011). Smn deficiency causes neuritogenesis and neurogenesis defects in the retinal neurons of a mouse model of Spinal Muscular Atrophy. Developmental Neurobiology71, 153-169.

101. O'Meara, R., Michalski, J-P., and Kothary, R. (2011). Integrin signaling in oligodendrocytes and its importance in CNS myelination. J. Signal Transduction doi:10.1155/2011/354091.

102. Abdul-Ghani, M., Dufort, D., Stiles, R., De Repentigny, Y., Kothary, R., and Megeney, L. (2011). Wnt11 promotes cardiomyocyte development by caspase-mediated suppression of canonical Wnt signals. Mol. Cell. Biol.31, 163-178.

103. *Michalski, J-P., *Anderson, C., Beauvais, A., De Repentigny, Y., and Kothary, R. (2011). The Proteolipid Protein Promoter drives expression outside of the oligodendrocyte lineage during embryonic and early postnatal development. PLOS One6, e19772.

104. Fukuda, K., Knight, J.D.R.,Piszczek, G., Kothary, R., and Qin, J. (2011). Biochemical, proteomic, structural, and thermodynamic characterizations of ILK: Cross-validation of the pseudokinase. J. Biol. Chem. 286, 21886-21895.

105. *De Repentigny, Y., *Ferrier, A., Ryan, S.D., Sato, T., and Kothary, R. (2011). Motor unit abnormalities in dystonia musculorum mice. PLOS One6, e21093.

106. O'Meara, R.W., Ryan, S.D., Colognato, H., and Kothary, R. (2011). Derivation of enriched oligodendrocyte cultures and oligodendrocyte/neuron myelinating co-cultures from post-natal murine tissues. J Vis Exp., 21, 54.

107. Bhanot, K., Young, K.G., and Kothary, R. (2011). MAP1B and clathrin are novel interacting partners of the giant cyto-linker dystonin. J. Proteome Res.10, 5118-27.

108. Knight, J.D.R., and Kothary, R. (2011). The myogenic kinome: protein kinases critical to mammalian skeletal myogenesis. Skeletal Muscle1, 29.

109. Poulin, K.L., Tong, G., Vorobyova, O., Pool, M., Kothary, R., and Parks, R.J. (2011). Cre/loxP recombination can be used to swap cell binding motifs on the adenoviral capsid protein IX. Virology 420, 146-155.

110. *Ryan, S.D., *Ferrier, A., Sato, T., O'Meara, R.W., De Repentigny, Y., Jiang, S.X., Hou, S.T., and Kothary, R. (2011). Neuronal dystonin isoform 2 is a novel mediator of endoplasmic reticulum structure and function. Mol. Biol. Cell 23, 553-566.

111. Atai, N.A., Ryan, S.D., Kothary, R., Breakefield, X.O., and Nery, F.C. (2012). Untethering the nuclear envelope and cytoskeleton - biologically distinct dystonias arising from a common cellular dysfunction. Int. J. Cell Biol.2012, article ID 634214.

112. Bowerman, M., Murray, L.M., Beauvais, A., Pinheiro, B., and Kothary, R. (2012). A critical Smn threshold in mice dictates onset of an intermediate Spinal Muscular Atrophy phenotype with a distinct neuromuscular junction pathology. Neuromuscular Disorders22, 263-276.

113. Ryan, S.D., Bhanot, K., Ferrier, A., De Repentigny, Y., Chu, A., Blais, A., and Kothary, R.(2012). Microtubule stability, Golgi organization, and transport flux require dystonin-a2/MAP1B interaction. J. Cell Biol. 196, 727-742.

114. Knight, J.D.R., Tian, R., Lee, R.E.C., Wang, F., Beauvais, A., Zou, H., Megeney, L.A., Gingras, A-C., Pawson, T., Figeys, D., and Kothary, R. (2012). A novel whole-cell lysate kinase assay identifies substrates of the p38 MAPK in differentiating myoblasts. Skeletal Muscle 2, 5.

115. Bowerman, M., Murray, L.M., Boyer, J., Anderson, C.L., and Kothary, R. (2012). Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy. BMC Medicine10, 24.

116. Bowerman, M., Swoboda, K.J., Michalski, J-P., Wang, G-S., Reeks, C., Beauvais, A., Murphy, K., Woulfe, J., Screaton, R.A., Scott, F.W., and Kothary, R. (2012). Glucose metabolism and pancreatic developmental defects in mice and humans with Spinal Muscular Atrophy. Annals Neurol. 72, 256-68.

117. Ghanem, N., Andrusiak, M., Svoboda, D., Al Lafi, S.M., Julian, L., McClellan, K., De Repentigny, Y., Kothary, R., Ekker, M., Blais, A., Park, D. Slack, R. (2012). The RB/E2F pathway modulates neurogenesis through direct regulation of DLX2. J. Neurosci.32, 8219-30.

118. Ryan, S.D., Ferrier, A., and Kothary, R. (2012). A novel role for the cytoskeletal linker protein dystonin in the maintenance of microtubule stability and the regulation of ER-Golgi transport. BioArchitecture 2,2-5.

119. Murray, L.M., Beauvais, A., Bhanot, K., and Kothary, R. (2012). Defects in neuromuscular junction remodelling in a mouse model of spinal muscular atrophy. Neurobiology of Disease49C, 57-67.

120. Knight, J.D.R., and Kothary, R. (2012). The extracellular kinome. Kinome, 2012 1-3.

121. Sanchez, G., Dury, A.Y., Murray, L.M., Biondi, O., Tadesse, H., El Fatimy, R., Kothary, R., Charbonnier, F., Khandjian, E.W., and Côté, J. (2013). A novel function for the survival motor neuron protein as a translational regulator. Hum. Mol. Gen.22, 668-684.

122. Ferrier, A., Boyer, J.G., and Kothary, R. (2013). Cell and molecular biology of the dystonin protein. International Review of Cell & Molecular Biology300, 85-120.

123. Goulet, B.B., Kothary, R., and Parks, R.P. (2013). At the “junction” of spinal muscular atrophy pathogenesis: The role of neuromuscular junction dysfunction in SMA disease progression. Current Molecular Medicine 13, 1160-1174.

124. *O'Meara, R.*Michalski, J.P., Anderson, C., Bhanot, K., Rippstein, P., and Kothary, R. (2013). Integrin-linked kinase regulates process extension in oligodendrocytes via control of actin cytoskeletal dynamics. J. Neurosci.33, 9781-93.

125. Storbeck, C.J., Al-Zahrani, K.N., Sriram, R., Kawesa, S., O'Reilly, P., Daniel, K.L., McKay, M., Kothary, R., Tsilfidis, C., and Sabourin, L.A. (2013). Distinct roles for the Ste20-like kinase SLK in muscle function and regeneration. Skeletal Muscle3, 16.

126. Liu, Y., Chakroun, I., Yang, D., Horner, E., Liang, J., Aziz, A., Chu, A., De Repentigny, Y., Dilworth, F.J., Kothary, R., and Blais, A. (2013). Six1 regulates MyoD expression in adult muscle progenitor cells. PLoS ONE8, e67762.

127. Goulet, B.B., McFall, E.R., Wong, C.M., Kothary, R., and Parks, R.J. (2013). Supraphysiological expression of survival motor neuron protein from an adenovirus vector does not adversely affect cell function. Biochem. Cell Biol. 91, 252-64.

128. Boyer, J.G., Murray, L.M., Scott, K., De Repentigny, Y., Renaud, J-M., and Kothary, R. (2013). Early onset muscle weakness and disruption of muscle proteins in mouse models of spinal muscular atrophy. Skeletal Muscle3, 24.

129. Boyer, J.G., Ferrier, A., and Kothary, R. (2013). More than a bystander: the contributions of intrinsic skeletal muscle defects in motor neuron diseases. Front. Physiol. 4, 356.

130. Murray, L.M., Gillingwater, T.H., and Kothary, R. (2014). Dissection of the transversus abdominis muscle for whole-mount neuromuscular junction analysis. J Vis Exp. doi: 10.3791/51162.

131. Ferrier, A., Sato, T., Gibeault, S., Bhanot, K., De Repentigny, Y., O'Meara, R., Young, K.G., and Kothary, R. (2014). Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI. Hum. Mol. Gen.23, 2694-2710.

132. *Bowerman, M., *Michalski, J-P., Beauvais, A., Murray, L.M., De Repentigny, Y., and Kothary, R. (2014). Defects in pancreatic development and glucose metabolism in SMN-depleted mice independent of canonical Spinal Muscular Atrophy neuromuscular pathology. Hum. Mol. Gen.23, 3432-3444.

133. Boyer, J.G., Deguise, M-O., Murray, L.M., Yazdani, A., De Repentigny, Y., Boudreau-Larivière, C.,and Kothary, R. (2014). Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy.Hum. Mol. Gen.23, 4249-4259.

134. Alvarez-Saavedra, M., De Repentigny, Y., Lagali, P., Ram, ER., Yan, K., Hashem, E., Ivanochko, D., Huh, M., Yang, D., Mears, A., Todd, M., Corcoran, C., Bassett, E., Tokarew, N., Kokavec, J., Majumder, R., Ioshikhes, I., Wallace, V., Kothary, R., Meshorer, E., Stopka, T., Skoultchi A., and Picketts, DJ. Snf2h-mediated chromatin organization and histone H1 dynamics governs cerebellar morphogenesis and neural maturation. Nature Communications 5, 4181.

135. Hettich, J., Ryan, S.D., de Souza, O.N., Timmers, L.F., Tsai, S., Atai, N.A., da Hora, C.C.,Zhang, X., Kothary, R., Snapp, E., Ericsson, M., Grundmann, K., Breakefield, X.O., and Nery, F.C. (2014).Biochemical and Cellular Analysis of Human Variants of the DYT1 Dystonia Protein,TorsinA. Hum. Mutat. 35: 1101-1113.

136. Liu, H., Yazdani, A., Murray, L.M., Beauvais, A., andKothary, R. (2014). The smn-independent beneficial effects of trichostatin a on an intermediate mouse model of spinal muscular atrophy. PLoS ONE9, e101225.

137. McFall, ER., Murray, LM., Lunde, JA., Jasmin, BJ., Kothary, R., and Parks, R. (2014). A reduction in the human adenovirus virion size through use of a shortened fibre protein does not enhance muscle transduction following systemic or localized delivery in mice. Virology 468-470: 444-453.

138.   Ferrier, A., De Repentigny, Y., Lynch-Godrei, A., Gibeault, S., Eid, W., Kuo, D., Zha, X., and Kothary, R. (2015). Disruption in the autophagic process underlies the sensory neuropathy in dystonia musculorum mice. Autophagy 11: 1025-1036.  

139.   Murray, L.M., Beauvais, A., Gibeault, S., Courtney, N.L., and Kothary, R. (2015). Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn (2b/-) mouse model of spinal muscular atrophy. Acta Neuropathol. Comm. 3: 55.  

140.   Michalski, J-P., and Kothary, R. (2015). Oligodendrocytes in a nutshell. Frontiers in Cellular Neuroscience 9: 340.  

141.   O'Meara, R.O.M., Cummings, S.E., Michalski, J-P., and Kothary, R. (2016). A new in vitro mouse oligodendrocyte precursor cell migration assay reveals a role for integrin-linked kinase in cell motility. BMC Neuroscience 17:7 DOI: 10.1186/s12868-016-0242-2  

142.   Michalski JP, Cummings SE, O'Meara RW, Kothary R. (2016). Integrin-linked kinase regulates oligodendrocyte cytoskeleton, growth cone, and adhesion dynamics. J Neurochem. 2015 Nov 28. doi: 10.1111/jnc.13446. [Epub ahead of print]  

143.   Lynch-Godrei, A., and Kothary, R. (2016). Functional and genetic analysis of neuronal isoforms of BPAG1. Methods in Enzymology 569:355-372.  

144.   Kornfeld, S.F.*, Lynch-Godrei, A.*, Bonin, S.R., De Repentigny, Y., Gibeault, S., and Kothary, R. (2016) Cytoskeletal linker protein dystonin is not critical to oligodendrocyte differentiation or CNS myelination. PLoS ONE 2016 Feb 17;11(2):e0149201.

145.  Smiley,S.,  Nickerson, P., Comanita, L., Daftarian, N.,  El-Sehemy, A., Tsai, ELS.,  Matan-Lithwick, S.,  Yan, K., Thurig, S., Touahri, Y.,  Dixit, R., Aavani, T., De Repentigny, Y.,  Baker, A., Tsilfidis, C., Biernaskie, J.,  Sauvé, Y., Schuurmans, C., Kothary, R., Mears, A., and Wallace, VA. (2016) Establishment of a cone photoreceptor transplantation platform based on a novel cone-GFP reporter mouse line. Scientific Reports. 6:22867.

146. Deguise, M.O., Justin G. Boyer, J.G., McFall, E., Yazdani, A., De Repentigny, Y., Kothary, R. (2016) Differential induction of muscle atrophy pathways in two mouse models of spinal muscular atrophy. Scientific Reports. 6:28846.

147. Burns, J., Kothary, R., Parks, R.J. (2016). Opening the window: The case for carrier and perinatal screening for spinal muscular atrophy. Neuromuscular Disorders. 26(9):551-9.doi: 10.1016/j.nmd.2016.06.459

148. Chardon, J.W., Jasmin, B.J., Kothary, R., and Parks, R. (2016). Report on the 3rd Ottawa International Conference on Neuromuscular Biology, Disease and Therapy – September 24–26, 2015, Ottawa, Canada. Journal of Neuromuscular Diseases 3, 431-442.

149. Alvarez-Saavedra, M., De Repentigny, Y., Yang, D., O'Meara, R., Yan, K., Racacho, L., Ioshikhes, I., Parks, R.J., Kothary, R., and Picketts, D. (2016). Running triggers VGF-mediated oligodendrogenesis to prolong the lifespan of Snf2h-null ataxic mice. Cell Reports 17, 862-875.

150. Eshraghi, M., McFall, E., Gibeault, S., and Kothary R. (2016). Effect of genetic background on the phenotype of the Smn2B/- mouse model of spinal muscular atrophy. Hum. Mol. Genet. 25 (20): 4494-4506.

151. Nash, L.A., Burns, J.K., Chardon, J.W., Kothary, R., and Parks, R. (2016). Spinal muscular atrophy: More than a disease of motor neurons? Curr. Mol. Med. 16 (9), 779-792.

152. Deguise, M-O., Patitucci, T.N., Ebert, A.D., *Lorson, C.L., and *Kothary, R. (2016). Contributions of different cell types to Spinal Muscular Atrophy pathogenesis. In: Sumner, C.J., Paushkin, S., Ko, C-P., eds., Spinal Muscular Atrophy: Disease Mechanisms and Therapy. San Diego: Academic Press. 167-81.

153. *O’Meara, R.O.M., *Cummings, S.E., De Repentigny, Y., McFall, E., Michalski, J-P., Deguise, M-O., Gibeault, S., and Kothary, R. (2017). Oligodendrocyte development and CNS myelination are unaffected in a mouse model of severe spinal muscular atrophy. Hum. Mol. Gen. 26(2), 282-292.

154. Deguise, M.O., De Repentigny, Y., McFall, E., Auclair, N., Sad, S., and Kothary, R. (2017). Immune dysregulation may contribute to disease pathogenesis in spinal muscular atrophy mice. Hum. Mol. Genet. 26(4), 801-819.

155. Deguise, M.O., and Kothary, R. (2017). New insights into SMA pathogenesis: immune dysfunction and neuroinflammation. Ann. Clin. Transl. Neurol. 4(7), 522-530.

156. Sutherland, L.C., Thibault, P., Durand, M., Lapointe, E., Knee, J.M., Beauvais, A., Kalatskaya, I., Hunt, S.C., Loiselle, J.J., Roy, J.G., Tessier, S.J., Ybazeta, G., Stein, L., Kothary, R., Klinck, R., and Chabot, B. (2017). Splicing arrays reveal novel RBM10 targets, including SMN2 pre-mRNA. BMC Mol. Biol. 18(1), 19.

157. Nash, L.A., McFall, E.R., Perozzo, A.M., Turner, M., Poulin, K.L., De Repentigny, Y., Burns, J.K., McMillan, H.J., Warman Chardon, J., Burger, D., Kothary, R., Parks, R.J. (2017). Survival Motor Neuron protein is released from cells in exosomes: A potential biomarker for Spinal Muscular Atrophy. Sci. Rep. 7(1), 13859. doi: 10.1038/s41598-017-14313-z.

158. Bowerman, M., Murray, L.M., Scamps, F., Schneider, B.L., Kothary, R., and Raoul, C. (2018). Pathogenic commonalities between spinal muscular atrophy and amyotrophic lateral sclerosis: converging roads to therapeutic development. Euro. J. Med. Gen 61:685-698.

159. Walter, L.M., Deguise, M.O., Meijboom, K.E., Betts, C.A., Ahlskog, N., van Westering, T.L., Hazell, G., McFall, E., Kordala, A., Hammond, S.M., Abendroth, F., Murray, L.M., Shorrock, H.K., Prosdocimo, D.A., Haldar, S.M., Jain, M.K., Gillingwater, T.H., Claus, P., Kothary, R., Wood, M.J.A., and Bowerman, M. (2018). Interventions targeting glucocorticoid-Kruppel-like factor 15-branched-chain amino acid signaling improve disease phenotype in spinal muscular atrophy mice. EBioMedicine 31, 226-242.

160. Lynch-Godrei, A., De Repentigny, Y., Gagnon, S., Trung, M.T., and Kothary, R. (2018). Dystonin-A3 upregulation is responsible for maintenance of tubulin acetylation in a less severe dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI. Hum. Mol. Genet. 27, 3598-3611.

161. De Repentigny, Y., and Kothary, R. (2018). Surgical artificial insemination in mice. Cold. Spring Harb. Protoc. 2018 Sep 4; 2018(9) doi: 10.1101/pdb.prot092734.

162. Chardon, J.W., Jasmin, B.J., Kothary, R., and Parks, R. (2018). Report on the 4th Ottawa International Conference on Neuromuscular Disease and Biology – September 5–7, 2017, Ottawa, Canada. Journal of Neuromuscular Diseases. 5, 539-552.

163. Deguise, M.O., and Kothary, R. (2019). Into the unknown: Chromatin signaling in Spinal Muscular Atrophy. In: Binda, O., ed., Chromatin Signaling and Neurological Disorders. Academic Press. 27-52.

164. Nery, F.C., Siranpsian, J.J., Rosales, I., Deguise, M.O., Sharma, A., Muhtaseb, A.W., New, P., Hohnstone, A.J., Zhang, R., Fatouraei, M., Huemer, N., Alves, C.R.R., Kothary, R., and Swoboda, K.J. (2019). Impaired kidney structure and function in spinal muscular atrophy. Neurology Genetics 5, e353.

165. Eshraghi, M., Gombar, R., De Repentigny, Y., Vacratsis, P., and Kothary, R. (2019). Pathologic alterations in the proteome of synaptosomes from a mouse model of spinal muscular atrophy. J. Proteome Res. 18, 3042-3051.

166. Deguise, M.O., Baranello, G., Mastella, C., Beauvais, A., Michaud, J., Leone, A., De Amicis, R., Battezzati, A., Dunham, C., Selby, K., Chardon, J.W., McMillan, H.J., Huang, Y.T., Courtney, N.L., Mole, A.J., Kubinski, S., Claus, P., Murray, L.M., Bowerman, M., Gillingwater, T.H., Bertoli, S., Parson, S.H., and Kothary, R. (2019). Abnormal fatty acid metabolism is a core component of spinal muscular atrophy. Ann. Clin. Transl. Neurol. 6, 1519-1532.

167. Galloway, D.A., Gowing, E., Setayeshgar, S., and Kothary, R. (2019). Inhibitory milieu at the multiple sclerosis lesion site and the challenges for remyelination. Glia 68, 859-877.

168. Deguise, M.O., Chehade, L., Tierney, A., Beauvais, A., and Kothary, R. (2019). Low fat diets increase survival of a mouse model of spinal muscular atrophy. Ann. Clin. Transl. Neurol. 6, 2340-2346.

169. Alvarez-Saavedra, M., Yan, K., Chaudary, N., Hashem, L.E., Yang, D., De Repentigny, Y., Ioshikhes, I., Kothary, R., Hirayama, T., Yagi, T., and Picketts, D.J. (2019). Snfh2 drives chromatin remodeling to prime upper layer cortical neuron development. Frontiers in Molecular Neuroscience 12, 243.

170. Lynch-Godrei, A., De Repentigny, Y., Yaworski, R.A., Gagnon, S., Butcher, J., Manoogian, J., Stintzi, A., and Kothary, R. (2020). Characterization of gastrointestinal pathologies in the dystonia musculorum mouse model for hereditary sensory and autonomic neuropathy type VI. Neurogastroenterol. Motil. 32, e13773.

171. Lynch-Godrei, A., and Kothary, R. (2020). HSAN-VI: a spectrum disorder based on dystonin isoform expression. Neurology Genetics 6, e389.

172. Deguise, M.O., De Repentigny, Y., Tierney, A., Beauvais, A., Michaud, J., Chehade, L., Thabet, M., Paul, B., Reilly, A., Gagnon, S., Renaud, J-M., and Kothary, R. (2020). Motor transmission defects with sex differences in a new mouse model of mild spinal muscular atrophy. EBioMedicine 55, 102750.

173. Deguise, M.O., Beauvais, A., Schneider, B.L., and Kothary, R. (2020). Blood flow to the spleen is altered in a mouse model of spinal muscular atrophy. J. Neuromusc. Dis. 7, 315-322.

174. Wassmer, S.J., De Repentigny, Y., Sheppard, D., Lagali, P.S., Fang, L., Coupland, S.G., Kothary, R., Guy, J., Hauswirth, W.W., and Tsilfidis, C. (2020). XIAP protects retinal ganglion cells in the mutant ND4 mouse nodel of Leber hereditary optic neuropathy. Invest. Ophthalmol. Vis. Sci. 61, 49.

175. Kosaraju, J., Seegobin, M., Gouveia, A., Syal, C., Sarma, S.N., Lu, K.J., Ilin, J., He, L., Wondisford, F., Lagace, D., De Repentigny, Y., Kothary, R., and Wang, J. (2020). Metformin promotes CNS remyelination and improves social interaction following focal demyelination through CBP Ser436 phosphorylation. Exp Neurol. 334, 113454.

176. Pringle, E.C., Nelson, R., Miller, W., Kothary, R., and Michaud, J. (2020). Spinal Muscular Atrophy Type III complicated by spinal superficial siderosis: a case report with molecular and neuropathological findings. Acta Neuropathologica Communications 8, 188. doi: 10.1186/s40478-020-01063-9.

177. Kornfeld, S.F., Cummings, S.E., Fathi, S., Bonin, S.R., and Kothary, R. (2021). MiRNA-145-5p prevents differentiation of oligodendrocyte progenitor cells by regulating expression of myelin gene regulatory factor. J. Cell Physiol. 236, 997-1012.

178. Lynch-Godrei, A., De Repentigny, Y., Gagnon, S., and Kothary, R. (2021). Dystonin loss-of-function leads to impaired autophagy-endolysosomal pathway dynamics. Biochem. Cell Biol. 99, 364-373.

179. Deguise, M.O., Pileggi, C., De Repentigny, Y., Beauvais, A., Tierney, A., Chehade, L., Michaud, J., Llavero-Hurtado, M., Lamont, D., Atrih, A., Wishart, T.M., Gillingwater, T.H., Schneider, B.L., Harper, M-E.., Parson, S.H., and Kothary, R. (2021). SMN depleted mice offer a robust and rapid onset model of non-alcoholic fatty liver disease. Cellular and Molecular Gastroenterology and Hepatology. 12, 354-377.

180. Chardon, J.W., Jasmin, B.J., Kothary, R., and Parks, R. (2021). Report on the 5th Ottawa International Conference on Neuromuscular Disease and Biology – October 17–19, 2019, Ottawa, Canada. Journal of Neuromuscular Diseases. 8, 323-334.

181. Deguise, M.O., Chehade, L., and Kothary, R. (2021). Metabolic Dysfunction in Spinal Muscular Atrophy. Int. J. Mol. Sci. 22, 5913.

182. Khayrullina, G., Alipio-Gloria, Z.A., Deguise, M-O., Gagnon, S., Chehade, L., Stinson, M., Belous, M., Bergman, E.M., Lischka, F.W., Rotty, J., Dalgard, C.L., Kothary, R., Johnson, K., and Burnett, B.G. (2022). Survival motor neuron protein deficiency alters microglia reactivity. Glia 70, 1337-1358.

183. Reilly, A., Deguise, M-O., Beauvais, A., Yaworski, R., Thebault, S., Tessier, D.R., Tabard-Cossa, V., Hensel, N., Schneider, B.L., and Kothary, R. (2022). Central and peripheral delivered AAV9-SMN are both efficient but target different pathomechanisms in a mouse model of spinal muscular atrophy. Gene Therapy doi: 10.1038/s41434-022-00338-1.

184. Ngo, C., and Kothary, R. (2022). MicroRNAs in oligodendrocyte development and remyelination. J. Neurochem. doi: 10.1111/jnc.15618.

185. Reilly, A., Chehade, L., and Kothary, R. (2022). Curing SMA: Are we there yet? Gene Therapy doi: 10.1038/s41434-022-00349-y.

186. Detering, N.T., Zambon, A., Hensel, N., Kothary, R., Swoboda, K., Gillingwater, T.H., and Baranello, G. (2022). 264th ENMC International Workshop: Multi-system involvement in Spinal Muscular Atrophy. Hofdorp, The Netherlands, November 19th-21st. Neuromuscular Disorders doi: 10.1016/j.nmd.2022.06.005.

187. Meijboom, K.E., Sutton, E.R., McCallion, E., McFall, E., Anthony, D., Edwards, B., Kubinski, S., Tapken, I., Bunermann, I., Ahlskog, N., Hazell, G., Claus, P., Davies, K.E., Kothary, R., Wood, M.J.A., and Bowerman, M. (2022). Dysregulation of Tweak and Fn14 in skeletal muscle of spinal muscular atrophy mice. Skeletal Muscle 12, 18. https://doi.org/10.1186/s13395-022-00301-z.

188. Chehade, L., Deguise, M-O., Hensel, N., De Repentigny, Y., Yaworski, R., Beauvais, A., Gagnon, S., Kothary, R. (2022). Suppression of necroptotic cell death ameliorates the SMA phenotype in Smn2B/- mice. Frontiers in Cellular Neuroscience 16:972029. doi: 10.3389/fncel.2022.972029. eCollection 2022.

189. Alves, CRR; Ha, LL; Yaworski,R; Lazzarotto, CR; Christie, KA; Reilly, A; Beauvais, A; Doll, RM; de la Cruz, D; Maguire, CA; Swoboda, KJ; Tsai, SQ; Kothary, R; Kleinstiver, BP. (2023). Base editing as a genetic treatment for spinal muscular atrophy. Preprint: bioRxiv. 2023 Jan 21;2023.

190. Kornfeld, S.F., Cummings, S.E., Dr Repentigny, Y., Gagnon, S., Zandee, S., Fathi, S., Yaworski, R., Prat, A., and Kothary, R. (2022). Loss of miR-145 promotes remyelination and functional recovery in a model of chronic central demyelination. Communications Biology In revision.

191. Gurriaran-Rodriguez, U., Datzkiw, D., Radusky, L.G., Fisher, S., Xiao, F., Ming, H., De Repentigny, Y., Kothary, R., Serrano, L., and Rudnicki, M.A. (2022). Identification of a signal peptide in Wnt proteins that directs secretion on extracellular vesicles. Nature Cell Biology In revision.

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