Primary Faculty

Julie Van De Weghe

Julie Van De Weghe, Ph.D.

Assistant Professor, Dept. of Cell Biology

Dr. Van De Weghe's website: https://www.juliecvdw.com/

 

 

 


Education:

PhD, Cellular Biology, University of Georgia, Athens, GA

 


Post-doctoral Fellowship:

Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA


Research Interests:

Translational Ciliary  Cellular Biology

The primary cilium is an antenna-like projection found on nearly every human cell; it extends from the cell body, where it receives and interprets signals, thus allowing cells to respond to their environment. These minuscule projections represent ~1/10,000th of a cell’s volume. Long thought to be vestigial organelles, we now know that loss of cilia is incompatible with human life. Ciliopathies are disorders rooted in ciliary dysfunction and exhibit overlapping clinical features, including developmental delay, intellectual disability, polydactyly, retinal dystrophy, and progressive involvement of the kidney and liver. While individually rare, ciliopathies combined affect 1/500 individuals. Most of our understanding of ciliary biology comes from model systems like the unicellular algae Chlamydomonas reinhardtii, as the structure of these organelles is remarkably conserved. I aim to combine basic science inquiries with questions rooted in determining the pathophysiology of ciliopathies.  

How does the cilium dynamically regulate protein content?

What are the roles of post-translational modifications of the ciliary support structure, the microtubule-based axoneme?

How do ciliopathy-related variants impact these aspects of ciliary function?

 

 

 

A primary cilium as seen on GE DeltaVision OMX Super Resolution Microscope. Acetylated tubulin (red) marks the microtubule-based axoneme and ARL13B (green) labels the membrane.

Lab website: https://www.juliecvdw.com/


Contact Information:

Julie-VanDeWeghe@ouhsc.edu

University of Oklahoma Health Sciences Center 
Stanton L. Young Biomedical Research Center 
975 NE 10th Ave, Room 264 
Oklahoma City, OK 73104 

Office: (405) 271-3832


Selected Publications:

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 MechanismJournal 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 phaseJournal 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 challengeInfection 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 MiceJournal of Infectious Diseases. Jan;209(1):150-62.                                         

              

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