NCBI My Bibliography

•Gomez AE, Christman AK, Van De Weghe JC, Finn M, and Doherty D. (2022) Systematic analysis of cilia characteristics and Hedgehog signaling in five immortal cell lines. PLoS One. Dec 29:17(12).

•Van De Weghe JC, Gomez A, and Doherty D. (2022) The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies. Annu Rev Genomics Hum Genet. Aug 31;23:301-329. 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). Times cited:10

•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 Times cited:16 Informative sciTwitter thread

tubulin transport by IFT enables ciliary elongation

Schematic presentation of tubulin influx into cilia without (a) and with (a) IFT. a) In the absence of IFT, tubulin (green dots) diffusing in the cell body (dashed lines) will eventually enter the cilium. Proteins entering cilia by diffusion will have to pass through the narrow openings of the transition zone at the ciliary base. This geometry will delay diffusional entry of tubulin into the cilium and axonemal elongation could decrease the concentration of soluble tubulin halting further elongation. b) IFT trains will pick-up tubulin near the flagellar base, move it through the physical barrier of the transition zone, and release it near the ciliary tip. IFT increases the tubulin concentration in the cilium, particularly near the ciliary tip, above that of the cell body promoting axonemal elongation.

•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 Times cited:44 Informative sciTwitter thread

 

Graphical Summary: Disruptions of the ARMC9-TOGARAM1 complex affect ciliary length and resorption. (A) TOGARAM1 interacts with ARMC9 through its TOG2 domain. (B) Effects of overexpression of TOGARAM1 wild-type and JBTS-associated variants on ciliary length in RPE1 TOGARAM1 mut cells and consequences of these variants on the interaction with ARMC9. (C) Consequences of mutations in ARMC9 or TOGARAM1 on ciliary length and axonemal post-translational microtubule modifications (PTM) in patient fibroblast lines (black arrows) or zebrafish mutants (white arrows). Transition zone (TZ) integrity despite mutations in complex members is indicated with a green checkmark. Consequences of TOGARAM1 and ARMC9 mutations on ciliary resorption induced by cold or by serum re-addition in patient fibroblasts are indicated with black arrows. Yellow boxes represent mutations. Bold crosses indicate presumed loss-of-function mutations. del deletion, fx frameshift, LoF loss of function, WT wild-type, ZF zebrafish. RPE1 mut hTERT-RPE1 TOGARAM1 mutant lines. Protein domains: LisH Lis-homology, CC coiled-coil, ARM armadillo, TOG tumor overexpression gene.

•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. Times cited: 84 *shared first author

This paper was featured in ASHG’s Trainee Paper Spotlight.

 

ARMC9 Mutations Cause JS

(A) The ARMC9 gene encodes a protein with an N-terminal LisH domain (green square), a coiled coil domain (yellow polygon), and a series of armadillo repeats (blue oval). Patient mutations are indicated by red arrows.

•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. Times cited: 131

•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. Time cited: 49

•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. Times cited: 84

 •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. Times cited: 175

  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.  Times cited: 167

     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. Times cited: 131

•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. Times cited: 39

•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. Times cited: 137