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Select item 105113691.

A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A

Annalaura Torella, Ivana Ricca, Giulio Piluso, Daniele Galatolo, Giuseppe De Michele, Mariateresa Zanobio, Rosanna Trovato, Giovanna De Michele, Roberta Zeuli, Chiara Pane, Sirio Cocozza, Francesco Saccà, Filippo M. Santorelli, Vincenzo Nigro, Alessandro Filla

J Neurol. 2023; 270(10): 5057–5063. Published online 2023 Jul 7. doi: 10.1007/s00415-023-11816-w

PMCID:: PMC10511369

Abstract Article PDF–1.7M

Select item 99024682.

In silico analysis of TUBA4A mutations in Amyotrophic Lateral Sclerosis to define mechanisms of microtubule disintegration

Akshatha Ganne, Meenakshisundaram Balasubramaniam, Haarika Ayyadevara, Lily Kiaei, Robert J. Shmookler Reis, Kottayil I. Varughese, Mahmoud Kiaei

Sci Rep. 2023; 13: 2096. Published online 2023 Feb 6. doi: 10.1038/s41598-023-28381-x

PMCID:: PMC9902468

Abstract Article PDF–2.3M

Select item 66147393.

TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations

Viviana Pensato, Cinzia Tiloca, Lucia Corrado, Cinzia Bertolin, Valentina Sardone, Roberto Del Bo, Daniela Calini, Jessica Mandrioli, Giuseppe Lauria, Letizia Mazzini, Giorgia Querin, Mauro Ceroni, Roberto Cantello, Stefania Corti, Barbara Castellotti, Giulia Soldà, Stefano Duga, Giacomo P. Comi, Cristina Cereda, Gianni Sorarù, Sandra D’Alfonso, Franco Taroni, Christopher E. Shaw, John E. Landers, Nicola Ticozzi, Antonia Ratti, Cinzia Gellera, Vincenzo Silani, SLAGEN Consortium

J Neurol. Author manuscript; available in PMC 2019 Jul 9.

Published in final edited form as: J Neurol. 2015 May; 262(5): 1376–1378. Published online 2015 Apr 18. doi: 10.1007/s00415-015-7739-y

PMCID:: PMC6614739

Article PDF–216K

Select item 53124094.

Increased expression of αTubulin is associated with poor prognosis in patients with pancreatic cancer after surgical resection

Chao Lin, Guo-chao Zhao, Ya-dong Xu, Dan-song Wang, Da-yong Jin, Yuan Ji, Wen-hui Lou, Wen-chuan Wu

Oncotarget. 2016 Sep 13; 7(37): 60657–60664. Published online 2016 Jul 16. doi: 10.18632/oncotarget.10630

PMCID:: PMC5312409

Abstract Article PDF–5.9M

Select item 45213905.

Exome-wide Rare Variant Analysis Identifies TUBA4A Mutations Associated with Familial ALS

Bradley N. Smith, Nicola Ticozzi, Claudia Fallini, Athina Soragia Gkazi, Simon Topp, Kevin P. Kenna, Emma L. Scotter, Jason Kost, Pamela Keagle, Jack W. Miller, Daniela Calini, Caroline Vance, Eric W. Danielson, Claire Troakes, Cinzia Tiloca, Safa Al-Sarraj, Elizabeth A. Lewis, Andrew King, Claudia Colombrita, Viviana Pensato, Barbara Castellotti, Jacqueline de Belleroche, Frank Baas, Anneloor LMA ten Asbroek, Peter C. Sapp, Diane McKenna-Yasek, Russell L. McLaughlin, Meraida Polak, Seneshaw Asress, Jesús Esteban-Pérez, José Luis Muñ oz-Blanco, Michael Simpson, SLAGEN Consortium, Wouter van Rheenen, Frank P. Diekstra, Giuseppe Lauria, Stefano Duga, Stefania Corti, Cristina Cereda, Lucia Corrado, Gianni Sorarù, Karen E. Morrison, Kelly L. Williams, Garth A. Nicholson, Ian P. Blair, Patrick A. Dion, Claire S. Leblond, Guy A. Rouleau, Orla Hardiman, Jan H. Veldink, Leonard H. van den Berg, Ammar Al-Chalabi, Hardev Pall, Pamela J. Shaw, Martin R. Turner, Kevin Talbot, Franco Taroni, Alberto García-Redondo, Zheyang Wu, Jonathan D. Glass, Cinzia Gellera, Antonia Ratti, Robert H. Brown, Jr., Vincenzo Silani, Christopher E. Shaw, John E. Landers

Neuron. Author manuscript; available in PMC 2015 Oct 22.

Published in final edited form as: Neuron. 2014 Oct 22; 84(2): 324–331. Published online 2014 Oct 22. doi: 10.1016/j.neuron.2014.09.027

PMCID:: PMC4521390

Abstract Article PDF–1.9M

Select item 29813226.

EseG, an Effector of the Type III Secretion System of Edwardsiella tarda, Triggers Microtubule Destabilization

Hai Xia Xie, Hong Bing Yu, Jun Zheng, Pin Nie, Leonard J. Foster, Yu-Keung Mok, B. Brett Finlay, Ka Yin Leung

Infect Immun. 2010 Dec; 78(12): 5011–5021. Published online 2010 Sep 20. doi: 10.1128/IAI.00152-10

PMCID:: PMC2981322

Abstract Article PDF–1.3M

Select item 64050907.

Adolescent idiopathic scoliosis associated POC5 mutation impairs cell cycle, cilia length and centrosome protein interactions

Amani Hassan, Stefan Parent, Hélène Mathieu, Charlotte Zaouter, Sirinart Molidperee, Edward T. Bagu, Soraya Barchi, Isabelle Villemure, Shunmoogum A. Patten, Florina Moldovan

PLoS One. 2019; 14(3): e0213269. Published online 2019 Mar 7. doi: 10.1371/journal.pone.0213269

PMCID:: PMC6405090

Abstract Article PDF–1.8M

Select item 63749968.

An essential role for α4A-tubulin in platelet biogenesis

Catherine Strassel, Maria M Magiera, Arnaud Dupuis, Morgane Batzenschlager, Agnès Hovasse, Irina Pleines, Paul Guéguen, Anita Eckly, Sylvie Moog, Léa Mallo, Quentin Kimmerlin, Stéphane Chappaz, Jean-Marc Strub, Natarajan Kathiresan, Henri de la Salle, Alain Van Dorsselaer, Claude Ferec, Jean-Yves Py, Christian Gachet, Christine Schaeffer-Reiss, Benjamin T Kile, Carsten Janke, François Lanza

Life Sci Alliance. 2019 Feb; 2(1): e201900309. Published online 2019 Feb 13. doi: 10.26508/lsa.201900309

Correction in:: Life Sci Alliance. 2021 Aug; 4(8): e202101132.

PMCID:: PMC6374996

Abstract Article PDF–3.9M

Select item 3409859.

Structural features and restricted expression of a human alpha-tubulin gene.

J L Hall, N J Cowan

Nucleic Acids Res. 1985 Jan 11; 13(1): 207–223. doi: 10.1093/nar/13.1.207

PMCID:: PMC340985

Summary Page Browse PDF–1.5M

Select item 34040510.

Alternative 5' exons either provide or deny an initiator methionine codon to the same alpha-tubulin coding region.

P R Dobner, E Kislauskis, B M Wentworth, L Villa-Komaroff

Nucleic Acids Res. 1987 Jan 12; 15(1): 199–218. doi: 10.1093/nar/15.1.199

PMCID:: PMC340405

Summary Page Browse PDF–2.5M

Select item 1110536711.

Dysregulation of a novel miR-1825/TBCB/TUBA4A pathway in sporadic and familial ALS

Anika M. Helferich, Sarah J. Brockmann, Jörg Reinders, Dhruva Deshpande, Karlheinz Holzmann, David Brenner, Peter M. Andersen, Susanne Petri, Dietmar R. Thal, Jens Michaelis, Markus Otto, Steffen Just, Albert C. Ludolph, Karin M. Danzer, Axel Freischmidt, Jochen H. Weishaupt

Cell Mol Life Sci. 2018 Dec; 75(23): 4301–4319. Published online 2018 Jul 20. doi: 10.1007/s00018-018-2873-1