•Van De Weghe JC, Gomez A, and Doherty D. (2022) The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies. Annu Rev Genomics Hum Genet. Online ahead of print: doi: 10.1146/annurev-genom-121321-093528
•Van De Weghe JC, Giordano JL, Mathijssen IB, Mojarrad M, Lugtenberg D, Miller CV, Dempsey JC, Mohajeri MSA, Leeuwen EV, Pajkrt E, Klaver CCW, Houlden H, Eslahi A, Waters AM, University of Washington Center for Mendelian Genomics, Bamshad MJ, Nickerson DA, Aggarwal VS, de Vries, BBA, Maroofian R, and D Doherty. (2021) TMEM218 dysfunction causes ciliopathies including Joubert and Meckel syndromes. Human Genetics and Genomic Advances. Jan 14;2(1).
•Van De Weghe JC*, Harris JA* Kubo T, Witman GB, and Lechtreck KF. (2020) Diffusion rather than IFT likely provides most of the tubulin required for axonemal assembly. Journal of Cell Science. Sept 11;133(17):jcs249805. bioRxiv *shared first author Informative sciTwitter thread
•Latour BL*, Van De Weghe JC*, Rusterholz TDS*, Letteboer SJF, Gomez A, Shaheen R, Gesemann M, Karamzade A, Asadollahi M, Barroso-Gil M, Chitre M, Grout ME, Reeuwijk JV, Beersum SECV, Miller CV, Dempsey JC, Morsy H, University of Washington Center for Mendelian Genomics, Bamshad MJ, Genomics England Research Consortium, Nickerson DA, Neuhauss SCF, Boldt K, Ueffing M, Keramatipour M, Sayer JA, Alkuraya FS, Bachmann-Gagescu R, Roepman R, and Doherty D. (2020) Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. Journal of Clinical Investigation. July 20;131656. bioRxiv *shared first author Informative sciTwitter thread
•Van De Weghe JC*, Rusterholz T*, Latour B*, Grout M, Aldinger K, Shaheen R, Dempsey J, Maddirevula S, Cheng Y, Phelps I, Gesemann M, Goel H, Birk O, Alanzi T, Rawashdeh R, Khan A, University of Washington Center for Mendelian Genomics, Bamshad M, Nickerson D, Neuhauss S, Dobyns W, Alkuraya F, Roepman R, Bachmann-Gagescu, R, and Dan Doherty. (2017) Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome in humans and ciliopathy phenotypes in zebrafish. American Journal of Human Genetics. July 6;101(1)23-36. *shared first author This paper was featured in ASHG’s Trainee Paper Spotlight.
•Shi X, Garcia III G, Van De Weghe JC, McGorty R, Pazour G, Doherty D, Huang B, and Reiter JF. (2017) Super-resolution microscopy reveals that disruption of ciliary transition zone architecture causes Joubert syndrome. Nature Cell Biology. Oct;19(10):1178-1188.
•Lechtreck KF, Van De Weghe JC, Harris A, and Liu P. (2017) Protein transport in growing and steady-state cilia: Controlling ciliary protein content. Traffic.18(5):277-286.
•Kubo T, Brown JM, Bellve K, Craige B, Craft JM. Fogarty K, Lechtreck KF, and Witman GB. (2016) Together, the IFT81 and IFT74 N-termini form the main module for intraflagellar transport of tubulin. Journal of Cell Science. 129(10):2106-19.
•Craft JM, Harris JA, Hyman SM, Kner P, and Lechtreck KF. (2015) Tubulin Transport by IFT is Upregulated During Ciliary Growth by a Cilium-autonomous Mechanism. Journal of Cell Biology. 208(2)223-237. This publication was featured in JCB’s Biosights. UGA issued a press release regarding this manuscript. This work was highlighted in American Society of Cell Biology Post.
gfp-α-tubulin transport and incorporation during ciliary regeneration. this composite video is based on several recording, spans 6 min 40 s, and shows a cell during regeneration of its two cilia after deciliation by a ph shock. the arrowheads mark the initial position of the ciliary tips.
•Wren KN, Craft JM, Tritschler D, Schauer S, Patel DK, Smith EF, Porter ME, Kner P, and Lechtreck KF. (2013) A Differential Cargo-Loading Model of Ciliary Length Regulation by IFT. Current Biology.Dec 16;23(24);2463-71.
This publication recommended by the Faculty of 1000. This work was featured in a Current Biology dispatch.
•Lechtreck KF, Brown JM, Sampaio JL, Craft JM, Shevchenko A, Evans JE, and Witman GB. (2013) Cycling of the signaling protein phospholipase D through cilia requires the BBSome only for the export phase. Journal of Cell Biology. 201(2):249-61.
•Collins, MH., Craft, JM., Bustamante, JM., and Tarleton, RL. (2011). Oral exposure to Trypanosoma cruzi elicits a systemic CD8+ T cell response and protection against heterotopic challenge. Infection and Immunity. 79(8):3397-406.
•Bustamante JM, Craft JM, Crowe BD, Ketchie SA, and Tarleton RL. (2014) New, Combined, and Reduced Dosing Treatment Protocols Cure Trypanosoma cruzi Infection in Mice. Journal of Infectious Diseases. Jan;209(1):150-62.
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