Selected Publications

  1. Neurofibromatosis type 1 (NF1) and Schwannomatosis
    • Botero, V, Stanhope, BA, Brown, EB, Grenci, EC, Boto, T, Park, SJ, King, LB, Murphy, KR, Colodner, KJ, Walker, JA, Keene, AC, Ja, WW and Tomchik, SM Neurofibromin regulates metabolic rate via neuronal mechanisms in Drosophila. Nature Commun. (2021) Jul 13; 12:4285

    • King LB, Boto T, Botero V, Aviles AM, Jomsky BM, Joseph C, Walker JA, and Tomchik SM. Developmental loss of neurofibromin across distributed neuronal circuits drives excessive grooming in Drosophila. PLoS Genetics. (2020) Jul 22;16(7):e1008920. PMID: 32697780

    • Moscato EH, Dubowy C, Walker JA, and Kayser MS. Social behavioral deficits in NF1 emerge from peripheral chemosensory neuron dysfunction. Cell Reports (2020) Jul 7;32(1):107856. PMID: 32640222

    • Liu Y, Jordan JT, Bredella MA, Erdin S, Walker JA, Harris GJ, Plotkin SR, and Cai W. NF1 radiogenomics: correlation between NF1 genotype and imaging phenotype on whole body MRI. Neurology (2020) 94(24):e2521-e2531. PMID: 32345730

    • Jordan JT, Smith MJ, Walker JA, Erdin S, Talkowski ME, Merker VL, Ramesh V, Cai W, Harris GJ, Bredella MA, Seijo M, Suuberg A, Gusella JF, Plotkin SR. Pain correlates with germline mutation in schwannomatosis. Medicine (2018) 97(5):e9717. PMID: 29384852

    • Walker JA, Upadhyaya M. Emerging therapeutic targets for neurofibromatosis type 1. Expert Opinion on Therapeutic Targets (2018) 22(5):419-437. PMID: 29667529 Download PDF here: https://www.tandfonline.com/eprint/7h5t7FrZkKAIIqSY82MS/full

    • Walker JA, Bernards A. A Drosophila screen identifies neurofibromatosis-1 genetic modifiers involved in systemic and synaptic growth. Rare Diseases (2014) 2:e28341. PMID: 25054093

    • Walker JA, Gouzi JY, Long JB, Huang S, Maher RC, Xia H, Khalil K, Ray A, Van Vactor D, Bernards R, Bernards A. Genetic and functional studies implicate synaptic overgrowth and ring gland cAMP/PKA signaling defects in the Drosophila melanogaster neurofibromatosis-1 growth deficiency. PLoS Genetics (2013) 9(11):e1003958. PMID: 24278035

    • Smith MJ, Esparza S, Merker VL, Muzikansky A, Bredella MA, Harris GJ, Kassarjian A, Cai W, Walker JA, Mautner VF, Plotkin SR. Plasma S100β is not a useful biomarker for tumor burden in neurofibromatosis. Clinical Biochemistry (2013) 46(7-8):698-700. PMID: 23261835

    • Smith MJ, Walker JA, Shen Y, Stemmer-Rachamimov A, Gusella JF, Plotkin SR. Expression of SMARCB1 (INI1) mutations in familial schwannomatosis. Human Molecular Genetics (2012) 21(24):5239-45. PMID: 22949514

    • Tsai PI, Wang M, Kao HH, Cheng YJ, Walker JA, Chen RH, Chien CT. Neurofibromin mediates FAK signaling in confining synapse growth at Drosophila neuromuscular junctions. Journal of Neuroscience (2012) 32(47):16971-81. PMID: 23175848

    • Gouzi JY, Moressis A, Walker JA, Apostolopoulou AA, Palmer RH, Bernards A, Skoulakis EM. The receptor tyrosine kinase Alk controls neurofibromin functions in Drosophila growth and learning. PLoS Genetics (2011) 7(9):e1002281. PMID: 21949657

    • Walker JA, Bernards A. Drosophila melanogaster neurofibromatosis-1: ROS, not Ras? Nature Genetics (2007) 39(4):443-5. PMID: 17392804

    • Walker JA, Tchoudakova AV, McKenney PT, Brill S, Wu D, Cowley GS, Hariharan IK, Bernards A. Reduced growth of Drosophila neurofibromatosis 1 mutants reflects a non-cell-autonomous requirement for GTPase-Activating Protein activity in larval neurons. Genes and Development (2006) 20(23):3311-23. PMID: 17114577

    • Drosophila Models of Human Disease
    • Marquilly C, Busto G, Leger BS, Boulanger A, Giniger E, Walker JA, Fradkin LG, and Dura JM. HTT is a repressor of Abl activity required for APP-induced axonal growth. PLoS Genetics (2021) Jan 19;17(1):e1009287. doi: 10.1371/journal.pgen.1009287. PMID: 33465062

    • Perea, D, Guiu, J, Hudry, B, Hadjieconomou, D, Hoyer, N, Natarajan, D, Kallijärvi, J, Walker, JA, Soba, P, Thapar, N, Burns, AJ, Jensen, KB, Miguel-Aliaga, I. A new enteric role for the Ret tyrosine kinase receptor in somatic stem cells of the adult intestinal epithelium EMBO J. (2017) Oct 16;36(20):3029-3045. doi: 10.15252/embj.201696247. PMID: 28899900

    • Dietz KN, Di Stefano L, Maher RC, Zhu H, Macdonald ME, Gusella JF, Walker JA.The Drosophila Huntington’s disease gene ortholog dhtt influences chromatin regulation during development. Human Molecular Genetics (2015) 24(2):330-45. PMID: 25168387

    • Lo Sardo V, Zuccato C, Gaudenzi G, Vitali B, Ramos C, Tartari M, Myre MA, Walker JA, Pistocchi A, Conti L, Valenza M, Drung B, Schmidt B, Gusella J, Zeitlin S, Cotelli F, Cattaneo E. An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin. Nature Neuroscience (2012)15(5):713-21. PMID: 22466506

    • Gohil VM, Offner N, Walker JA, Sheth SA, Fossale E, Gusella JF, MacDonald ME, Neri C, Mootha VK. Meclizine is neuroprotective in models of Huntington’s disease. Human Molecular Genetics (2011) 20(2):294-300. PMID: 20977989

    • Longworth MS, Walker JA, Anderssen E, Moon NS, Gladden A, Heck MM, Ramaswamy S, Dyson NJ. A shared role for RBF1 and dCAP-D3 in the regulation of transcription with consequences for innate immunity. PLoS Genetics (2012) 8(4):e1002618. PMID: 22496667

    • Di Stefano L, Walker JA, Burgio G, Corona DF, Mulligan P, Näär AM, Dyson NJ. Functional antagonism between histone H3K4 demethylases in vivo. Genes & Development (2011) 25(1):17-28. PMID: 21205864

    • Miles WO, Dyson NJ, Walker JA. Modeling tumor invasion and metastasis in Drosophila. Disease Models & Mechanisms (2011) 4(6):753-61. PMID: 21979943

    • Developing Gene Driver Controllers using Drosophila
    • Sreekanth V, Zhou Q, Kokkonda P, Bermudez-Cabrera HC, Lim D, Law BK, Holmes BR, Chaudhary SK, Pergu R, Leger BS, Walker JA, Gifford DK, Sherwood RI, and Choudhary A. Chemogenetic system demonstrates that Cas9 longevity impacts genome editing outcomes. ACS Cent. Sci. (2020) Dec 23;6(12):2228-2237. doi: 10.1021/acscentsci.0c00129. PMID: 33376784

    • López Del Amo V, Leger BS, Cox KJ, Gill S, Bishop AL, Scanlon GD, Walker JA, Gantz VM, and Choudhary A. A small-molecule contingent gene-drive system with analog output. Cell Reports (2020) Jun 30;31(13):107841. PMID: 32610142

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