Citations
Mayo Clinic
2 citation(s) found for "Crowley, Suzanne".
Interim Update of the MDR-101-MLK Phase 3 Trial: MERCURY Study
Marin, Ethan P., Stites, Erik, Busque, Stéphan , Mai, Martin L., Piper, James B., Shah, Asheh P., Akkina, Sanjeev , Group, Mercury Study, Kaufman, Dixon B. , Stegall, Mark D. , Gaber, A. Osama , Srinivas, Titte R. , Mai, Martin L., Cooper, Matthew , Crowley, Suzanne, Chavin, Kenneth D. , Group, Mercury Study
Journal of the American Society of Nephrology | May 17, 2024 | Volume: 31 | Issue: 10S | Pages: 28-28
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules
Dodd, Daniel O , Mechaussier, Sabrina , Yeyati, Patricia L. , McPhie, Fraser , Anderson, Jacob R. , Khoo, Chen Jing , Shoemark, Amelia , Gupta, Deepesh Kumar , Attard, Thomas, Zariwala, Maimoona A. , Legendre, Marie , Bracht, Diana , Gui, Miao , Parry, David , Black, Holly A. , Mitri-Frangieh, Rana, Faucon, Catherine, Kaplan, Josseline, Megaw, Roly , Mohamed, Mai A., Aitken, Stuart , Gautier, Philippe , Reinholt, Finn R., Hirst, Robert A. , O’Callaghan, Chris, Bottier, Mathieu , Escudier, Estelle , Crowley, Suzanne , Descartes, Maria , Kenia, Priti , Amiel, Jeanne , Bacci, Giacomo Maria , Calogero, Claudia , Palazzo, Viviana , Tiberi, Lucia , Blümlein, Ulrike, Rogers, Andrew, Wenger, David A. , Fulton, Anne B. , Rosenfeld, Margaret , Holm, Ingrid A., Quigley, Alan J. , Murphy, Laura C. , Cassidy, Diane M. , Kriegsheim, Alex von , Partnership, Scottish Genomes, Network, Undiagnosed Diseases, Murris, Marlène , Hogg, Claire , Macleod, Kenneth , Urquhart, Don S. , Unger, Stefan , Amselem, Serge , Leigh, Margaret W. , Knowles, Michael R. , Mitchison, Hannah M. , Rozet, Jean‐Michel , Mill, Pleasantine , Gupta, Deepesh K , Wallmeier, Julia , Fassad, Mahmoud R , Tennant, Peter A , Meynert, Alison , Wheway, Gabrielle , Fares-Taie, Lucas , Black, Holly A , Patel, Mitali , McKie, Lisa , Megaw, Roly , Aitken, Stuart , Gautier, Philippe , Heimdal, Ketil , Bottier, Mathieu , Escudier, Estelle , Crowley, Suzanne , Descartes, Maria , Jabs, Ethylin W , Bacci, Giacomo Maria , Calogero, Claudia , Tiberi, Lucia , Wambach, Jennifer A , Wegner, Daniel J , Fulton, Anne B , Kenna, Margaret , Quigley, Alan , Hall, Emma A , Murphy, Laura C , Cassidy, Diane M , von Kriegsheim, Alex , Pasquier, Laurent , Murris, Marlène S , Chalmers, James D , Hogg, Claire , Macleod, Kenneth A , Urquhart, Don S , Unger, Stefan , Aitman, Timothy J , Leigh, Margaret W , Omran, Heymut , Mitchison, Hannah M , Brown, Alan , Marsh, Joseph A , Ti, Shih-Chieh , Horani, Amjad , Rozet, Jean-Michel , Perrault, Isabelle , Mill, Pleasantine , Dodd, Daniel O. , Mechaussier, Sabrina , Gatsogiannis, Christos , Holm, Ingrid A., Partnership, Scottish Genomes, Network, Undiagnosed Diseases, Papon, Jean‐François , Pasquier, Laurent , Chalmers, James D. , Omran, Heymut , Welburn, Julie P. I.
Science | April 25, 2024 | Volume: 384 | Issue: 6694 | Pages: No page available
10.1126/science.adf5489
| PMID 38662826
Tubulin, one of the most abundant cytoskeletal building blocks, has numerous isotypes in metazoans encoded by different conserved genes. Whether these distinct isotypes form cell type– and context-specific microtubule structures is poorly understood. Based on a cohort of 12 patients with primary ciliary dyskinesia as well as mouse mutants, we identified and characterized variants in the TUBB4B isotype that specifically perturbed centriole and cilium biogenesis. Distinct TUBB4B variants differentially affected microtubule dynamics and cilia formation in a dominant-negative manner. Structure-function studies revealed that different TUBB4B variants disrupted distinct tubulin interfaces, thereby enabling stratification of patients into three classes of ciliopathic diseases. These findings show that specific tubulin isotypes have distinct and nonredundant subcellular functions and establish a link between tubulinopathies and ciliopathies.