Gregory Cox


  • B.S. in Biology–Cellular/Molecular, Humboldt State University, 1989
  • Ph.D. in Human Genetics, University of Michigan, 1994


My lab takes advantage of the power of mouse genetics and the resources available at The Jackson Laboratory to understand the mechanisms of neuromuscular disease. This information is used to understand the normal function of genes and pathways necessary for motor neuron and skeletal muscle function as well as the processes that go awry in inherited diseases.

Research Interests

The long term goals of my research program are to identify molecular pathways necessary for the normal function and survival of motor neurons and their skeletal muscle targets. Muscular dystrophies and motor neuron diseases collectively have a high impact on health, affecting tens of thousands of people in the United States alone. The diseases are characterized by weakness and progressive wasting of muscles eventually leading to paralysis and death. We have chosen to focus on the resources available at The Jackson Laboratory in the form of spontaneous and induced models of neuromuscular disease as our starting point for gene discovery and functional analysis. This phenotype-driven approach ensures that the mutant genes we identify are critical for the normal development and/or maintenance of motor neurons and skeletal muscles.

Selected Publications

  • Nicolas A, Kenna KP, Renton AE, Ticozzi N, et al. 2018. Genome-wide analyses identify KIF5A as a novel ALS gene. Neuron. 97(6): 1268-1283.
  • Metcalf JS, Lobner D, Banack SA, Cox GA, Nunn PB, Wyatt PB, Cox PA. 2017. Analysis of BMAA enantiomers in cycads, cyanobacteria, and mammals: in vivo formation and toxicity of D-BMAA. Amino Acids. 49(8): 1427-1439.
  • Morelli KH, Seburn KL, Schroeder DG, Spaulding EL, Dionne LA, Cox GA, Burgess RW. 2017. Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes. Cell Rep. 18(13): 3178-3191.
  • Demers CJ, Soundararajan P, Chennampally P, Cox GA, Briscoe J, Collins SD, Smith RL. 2016. Development-on-chip: in vitro neural tube patterning with a microfluidic device. Development. 143: 1884-1892.
  • Genç B, Jara JH, Schultz MC, Manuel M, Stanford MJ, Gautam M, Klessner JL, Sekerkova G, Heller DB, Cox GA, Heckman CJ, DiDonato CJ, Özdinler PH. 2016. Absence of UCHL1 function leads to selective motor neuropathy. Ann Clin Transl Neurol. 3: 331-345.
  • Zhang W, Zhang L, Liang B, Schroeder D, Zhang Z-W, Cox GA, Li Y, Lin D-T. 2016. Hyperactive Somatostatin Interneurons Contribute to Excitotoxicity in Neurodegenerative Disorders. Nature Neuroscience 19(4):557-559. PMID: 26900927
  • Coley WD, Bogdanik L, Vila MC, Yu Q, van der Meulen JH, Rayavarapu S, Novak JS, Nearing M, Quinn JL, Saunders A, Dolan C, Andrews W, Lammert C, Austin A, Partridge TA, Cox GA, Lutz C, Nagaraju K. 2016. Effect of genetic background on the dystrophic phenotype in mdx mice. Hum Mol Genet. 25:130-145. PMID: 26566673
  • Fairfield H, Srivastava A, Ananda G, Liu R, Kircher M, Lakshminarayana A, Harris BS, Karst SY, Dionne LA, Kane CC, Curtain M, Berry ML, Ward-Bailey PF, Greenstein I, Byers C, Czechanski A, Sharp J, Palmer K, Gudis P, Martin W, Tadenev A, Bogdanik L, Pratt CH, Chang B, Schroeder DG, Cox GA, Cliften P, Milbrandt J, Murray S, Burgess R, Bergstrom DE, Donahue LR, Hamamy H, Masri A, Santoni FA, Makrythanasis P, Antonarakis SE, Shendure J, Reinholdt LG. 2015. Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders. Genome Res. 25:948-957. PMID: 25917818
  • Heiman-Patterson TD, Blankenhorn EP, Sher RB, Jiang J, Welsh P, Dixon MC, Jeffrey JI, Wong P, Cox GA, Alexander GM. 2015. Genetic Background Effects on Disease Onset and Lifespan of the Mutant Dynactin p150Glued Mouse Model of Motor Neuron Disease. Plos One. 10(3):e0117848.
  • Jara JH, Genc B, Cox GA, Bohn MC, Roos RP, Macklis JD, Ulupinar E, Hande Ozdinler P. 2015. Corticospinal motor neurons are susceptible to increased ER stress and display profound degeneration in the absence of UCHL1 function. Cereb Cortex. 25(11):4259-72. PMID: 25596590.
  • Sher RB, Heiman-Patterson TD, Blankenhorn EA, Jiang J, Alexander G, Deitch JS, Cox GA. 2014. A major QTL on mouse chromosome 17 resulting in lifespan variability in SOD1-G93A transgenic mouse models of amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 15(7-8):588-600. PMID: 25008789.
  • Li Z, Wu G, Sher RB, Khavandgar Z, Hermansson M, Cox GA, Doschak MR, Murshed M, Beier F, Vance DE. 2014. Choline kinase beta is required for normal endochondral bone formation. Biochim Biophys Acta. S0304-4165(14)00112-3.
  • Mohamed JS, Lopez MA, Cox GA, Boriek AM. 2013. Ankyrin Repeat Domain Protein 2 and Inhibitor of DNA Binding 3 Cooperatively Inhibit Myoblast Differentiation by Physical Interaction. J. Biol. Chem. 288:24560-8.
  • Hosur V, Cox ML, Burzenski LM, Riding RL, Alley L, Lyons BL, Kavirayani A, Martin KA, Cox GA, Johnson KR, Shultz LD. 2013. Retrotransposon insertion in the T-cell acute lymphocytic leukemia 1 (Tal1) gene is associated with severe renal disease and patchy alopecia in Hairpatches (Hpt) mice. PLoS One. 8:e53426.
  • Hoffman EP, Gordish-Dressman H, McLane VD, Devaney JM, Thompson PD, Visich P, Gordon PM, Pescatello LS, Zoeller RF, Moyna NM, Angelopoulos TJ, Pegoraro E, Cox GA, Clarkson PM. 2012. Alterations in Osteopontin Modify Muscle Size in Females in Both Humans and Mice. Med Sci Sports Exerc. 45:1060-8.
  • Hosur V, Riefler J, Lyons B, Gott B, Carney L, Kavirayani A, Cox, GA, Shultz LD. 2012. Dystrophin and Dysferlin Double Mutant Mice: A Novel Model for Rhabdomyosarcoma. Cancer Genetics. 205:232-241.

Dissertation Students

Paige Martin

Ambreen Sayed