Neurofibromatosis type 1 (NF1) and Schwannomatosis

• Gutmann DH, Anastasaki C, Gupta A, Hou Y, Morris SM, Payne JM, Raber J, Tomchik SM, Van Aelst L, Walker JA, and Yohay KH (2025). Cognition and behavior in neurofibromatosis type 1: report and perspective from the Cognition and Behavior in NF1 (CABIN) Task Force. Genes Dev. Mar 24. doi: 10.1101/gad.352629.125. Epub ahead of print. PMID: 40127956.

• Tomkinson J, Mattson C, Mattson-Hoss M, Sarnoff H, Bouley SJ, Walker JA, and Way GP (2024). High-content microscopy and machine learning characterize a cell morphology signature of NF1 genotype in Schwann cells. bioRxiv. 2024.09.11.612546; https://doi.org/10.1101/2024.09.11.612546.

• Stevens M, Wang Y, Bouley SJ, Mandigo TR, Sharma A, Sengupta S, Housden A, Perrimon N, Walker JA, and Housden BE. (2025). Inhibition of autophagy as a novel treatment for neurofibromatosis type 1 tumors. Mol Oncol. Mar;19(3):825-851. doi: 10.1002/1878-0261.13704. PMID: 39129390.

• Bouley SJ, Grassetti AV, Allaway RJ, Wood MD, Hou HW, Burdon Dasbach IR, Seibel W, Wu J, Gerber SA, Dragnev KH, Walker JA, and Sanchez Y. (2024). Chemical genetic screens reveal defective lysosomal trafficking as synthetic lethal with NF1 loss. J Cell Sci. Aug 1;137(15):jcs262343. doi: 10.1242/jcs.262343. PMID: 39016685.

• Staedtke V, Anstett K, Bedwell D, Giovannini M, Keeling K, Kesterson R, Kim Y, Korf B, Leier A, McManus ML, Sarnoff H, Vitte J, Walker JA, Plotkin SR, and Wallis D. (2024). Gene-targeted therapy for neurofibromatosis and schwannomatosis: The path to clinical trials. Clin Trials Feb;21(1):51-66. doi: 10.1177/17407745231207970. PMID: 37937606.

• Durkin J, Poe AR, Belfer SJ, Rodriguez A, Tang SH, Walker JA and Kayser MS. (2023). Neurofibromin 1 regulates early developmental sleep in Drosophila. Neurobiol Sleep Circadian Rhythms Aug 9;15:100101. doi: 10.1016/j.nbscr.2023.100101. PMID: 37593040

• 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. (2021). Neurofibromin regulates metabolic rate via neuronal mechanisms in Drosophila. Nature Commun. Jul 13; 12:4285. PMID: 34257279

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

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

• Liu Y, Jordan JT, Bredella MA, Erdin S, Walker JA, Harris GJ, Plotkin SR, and Cai W. (2020). NF1 radiogenomics: correlation between NF1 genotype and imaging phenotype on whole body MRI. Neurology 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, and Plotkin SR. (2018). Pain correlates with germline mutation in schwannomatosis. Medicine 97(5):e9717. PMID: 29384852

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

• Walker JA, and Bernards A. (2014). A Drosophila screen identifies neurofibromatosis-1 genetic modifiers involved in systemic and synaptic growth. Rare Diseases 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, and Bernards A. (2013). Genetic and functional studies implicate synaptic overgrowth and ring gland cAMP/PKA signaling defects in the Drosophila melanogaster neurofibromatosis-1 growth deficiency. PLoS Genetics 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, and Plotkin SR. (2013). Plasma S100β is not a useful biomarker for tumor burden in neurofibromatosis. Clinical Biochemistry 46(7-8):698-700. PMID: 23261835

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

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

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

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

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

Drosophila Models of Human Disease

• Mandigo TR, Abou Daya F, Patel D, Math SR, Ober L, Maher M, Melkani GC, Walker JA, Saxena R. (2025) Drosophila Modeling Identifies Increased Sleep as a Link Between Insomnia and Cardiovascular Disease. bioRxiv. 2025.04.07.647668; doi: https://doi.org/10.1101/2025.04.07.647668

• Gill S, Mandigo TR, Elmali AD, Leger BS, Yang B, Tran S, Laosuntisuk K, Lane JM, Bannister D, Aonbangkhen C, Ormerod KG, Mahama B, Schuch KN, Elya C, Akhund-Zade J, Math S, LoRocco NC, Seo S, Maher M, Kanca O, Bebek N, Karadeniz D, Senel GB, Courage C, Lehesjoki AE, Winkelman JW, Bellen HJ, de Bivort B, Hart AC, Littleton JT, Baykan B, Doherty CJ, Melkani GC, Prober DA, Woo CM, Saxena R, Schreiber SL, and Walker JA. (2024). A conserved role for ALG10/ALG10B and the N-glycosylation pathway in the sleep-epilepsy axis. medRxiv .12.11.24318624; doi: https://doi.org/10.1101/2024.12.11.24318624

• Abou Daya F, Mandigo T, Ober L, Patel D, Mahe M, Tchio C, Walker JA, Saxena R, and Melkani GC. (2025). Identifying novel links between cardiovascular disease and insomnia by Drosophila modeling of genes from a pleiotropic GWAS locus.  Dis Model Mech. In press. 

• Marquilly C, Busto G, Leger BS, Boulanger A, Giniger E, Walker JA, Fradkin LG, and Dura JM. (2021). HTT is a repressor of Abl activity required for APP-induced axonal growth. PLoS Genetics 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, and Miguel-Aliaga, I. (2017). A new enteric role for the Ret tyrosine kinase receptor in somatic stem cells of the adult intestinal epithelium EMBO J. 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, and Walker JA. (2015). The Drosophila Huntington’s disease gene ortholog dhtt influences chromatin regulation during development. Hum Mol Genet. 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, and Cattaneo E. (2012) An evolutionary recent neuroepithelial cell adhesion function of huntingtin implicates ADAM10-Ncadherin. Nature Neuroscience 15(5):713-21. PMID: 22466506

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

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

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

• Miles WO, Dyson NJ, and Walker JA. (2011). Modeling tumor invasion and metastasis in Drosophila. Dis Model Mech. 4(6):753-61. PMID: 21979943

Cancer Mechanisms

• Khan E, Hylton H, Rajan N, Bouley SJ, Siddiqui JK, Rajasekaran S, Koshre GR, Storts H, Valenciaga A, Khan M, Liyanarachchi S, Fernandez F, Zheng X, Phay J, Dedhia PH, Wang J, Walker JA, Ringel MD, and Miles WO. (2025). Proteomic Profiling of Medullary Thyroid Cancer Identifies CAPN1 as a Key Regulator of NF1 and RET Fueled Growth. Thyroid Feb; 35(2):177-187  doi: 10.1089/thy.2024.0102. PMID: 39868924.

• Rajasekaran S, Khan E, Ching SR, Khan M, Siddiqui JK, Gradia DF, Lin, C, Bouley SJ, Mercadante DL, Manning AL, Gerber AP, Walker JA and Miles WO. (2022). PUMILIO competes with AUF1 to control DICER1 RNA levels and miRNA processing. Nucleic Acids Res. Jun 8;50(12):7048-66. doi: 10.1093/nar/gkac499. PMID: 35736218

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. (2020) Chemogenetic system demonstrates that Cas9 longevity impacts genome editing outcomes. ACS Cent. Sci. Dec 23;6(12):2228-2237. doi: 10.1021/acscentsci.0c00129. PMID: 3337678

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