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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Dodd DO, Mechaussier S, Yeyati PL, McPhie F, Anderson JR, Khoo CJ, Shoemark A, Gupta DK, Attard T, Zariwala MA, Legendre M, Bracht D, Wallmeier J, Gui M, Fassad MR, Parry DA, Tennant PA, Meynert A, Wheway G, Fares-Taie L, Black HA, Mitri-Frangieh R, Faucon C, Kaplan J, Patel M, McKie L, Megaw R, Gatsogiannis C, Mohamed MA, Aitken S, Gautier P, Reinholt FR, Hirst RA, O'Callaghan C, Heimdal K, Bottier M, Escudier E, Crowley S, Descartes M, Jabs EW, Kenia P, Amiel J, Bacci GM, Calogero C, Palazzo V, Tiberi L, Blümlein U, Rogers A, Wambach JA, Wegner DJ, Fulton AB, Kenna M, Rosenfeld M, Holm IA, Quigley A, Hall EA, Murphy LC, Cassidy DM, von Kriegsheim A; Scottish Genomes Partnership16; Genomics England Research Consortium45; Undiagnosed Diseases Network46; Papon JF, Pasquier L, Murris MS, Chalmers JD, Hogg C, Macleod KA, Urquhart DS, Unger S, Aitman TJ, Amselem S, Leigh MW, Knowles MR, Omran H, Mitchison HM, Brown A, Marsh JA, Welburn JPI, Ti SC, Horani A, Rozet JM, Perrault I, Mill P. Dodd DO, et al. Among authors: hall ea. Science. 2024 Apr 26;384(6694):eadf5489. doi: 10.1126/science.adf5489. Epub 2024 Apr 26. Science. 2024. PMID: 38662826
Centriolar satellites expedite mother centriole remodeling to promote ciliogenesis.
Hall EA, Kumar D, Prosser SL, Yeyati PL, Herranz-Pérez V, García-Verdugo JM, Rose L, McKie L, Dodd DO, Tennant PA, Megaw R, Murphy LC, Ferreira MF, Grimes G, Williams L, Quidwai T, Pelletier L, Reiter JF, Mill P. Hall EA, et al. Elife. 2023 Feb 15;12:e79299. doi: 10.7554/eLife.79299. Elife. 2023. PMID: 36790165 Free PMC article.
A Cell/Cilia Cycle Biosensor for Single-Cell Kinetics Reveals Persistence of Cilia after G1/S Transition Is a General Property in Cells and Mice.
Ford MJ, Yeyati PL, Mali GR, Keighren MA, Waddell SH, Mjoseng HK, Douglas AT, Hall EA, Sakaue-Sawano A, Miyawaki A, Meehan RR, Boulter L, Jackson IJ, Mill P, Mort RL. Ford MJ, et al. Among authors: hall ea. Dev Cell. 2018 Nov 19;47(4):509-523.e5. doi: 10.1016/j.devcel.2018.10.027. Dev Cell. 2018. PMID: 30458140 Free PMC article.
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Hall EA, Nahorski MS, Murray LM, Shaheen R, Perkins E, Dissanayake KN, Kristaryanto Y, Jones RA, Vogt J, Rivagorda M, Handley MT, Mali GR, Quidwai T, Soares DC, Keighren MA, McKie L, Mort RL, Gammoh N, Garcia-Munoz A, Davey T, Vermeren M, Walsh D, Budd P, Aligianis IA, Faqeih E, Quigley AJ, Jackson IJ, Kulathu Y, Jackson M, Ribchester RR, von Kriegsheim A, Alkuraya FS, Woods CG, Maher ER, Mill P. Hall EA, et al. Am J Hum Genet. 2017 May 4;100(5):706-724. doi: 10.1016/j.ajhg.2017.03.008. Epub 2017 Apr 13. Am J Hum Genet. 2017. PMID: 28413018 Free PMC article.
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
Stephen LA, Tawamie H, Davis GM, Tebbe L, Nürnberg P, Nürnberg G, Thiele H, Thoenes M, Boltshauser E, Uebe S, Rompel O, Reis A, Ekici AB, McTeir L, Fraser AM, Hall EA, Mill P, Daudet N, Cross C, Wolfrum U, Jamra RA, Davey MG, Bolz HJ. Stephen LA, et al. Among authors: hall ea. Elife. 2015 Sep 19;4:e08077. doi: 10.7554/eLife.08077. Elife. 2015. PMID: 26386247 Free PMC article.
170 results