Article
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Science (New York, N.Y.) - 26 Apr 2024
Dodd Daniel O, Mechaussier Sabrina, Yeyati Patricia L, McPhie Fraser, Anderson Jacob R, Khoo Chen Jing, Shoemark Amelia, Gupta Deepesh K, Attard Thomas, Zariwala Maimoona A, Legendre Marie, Bracht Diana, Wallmeier Julia, Gui Miao, Fassad Mahmoud R, Parry David A, Tennant Peter A, Meynert Alison, Wheway Gabrielle, Fares-Taie Lucas, Black Holly A, Mitri-Frangieh Rana, Faucon Catherine, Kaplan Josseline, Patel Mitali, McKie Lisa, Megaw Roly, Gatsogiannis Christos, Mohamed Mai A, Aitken Stuart, Gautier Philippe, Reinholt Finn R, Hirst Robert A, O'Callaghan Chris, Heimdal Ketil, Bottier Mathieu, Escudier Estelle, Crowley Suzanne, Descartes Maria, Jabs Ethylin W, Kenia Priti, Amiel Jeanne, Bacci Giacomo Maria, Calogero Claudia, Palazzo Viviana, Tiberi Lucia, Blümlein Ulrike, Rogers Andrew, Wambach Jennifer A, Wegner Daniel J, Fulton Anne B, Kenna Margaret, Rosenfeld Margaret, Holm Ingrid A, Quigley Alan, Hall Emma A, Murphy Laura C, Cassidy Diane M, von Kriegsheim Alex, Papon Jean-François, Pasquier Laurent, Murris Marlène S, Chalmers James D, Hogg Claire, Macleod Kenneth A, Urquhart Don S, Unger Stefan, Aitman Timothy J, Amselem Serge, Leigh Margaret W, Knowles Michael R, Omran Heymut, Mitchison Hannah M, Brown Alan, Marsh Joseph A, Welburn Julie P I, Ti Shih-Chieh, Horani Amjad, Rozet Jean-Michel, Perrault Isabelle, Mill Pleasantine
Abstract excerpt
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...
Read the complete abstract on PubMed