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Select item 105061601.

Novel TUBB4A Mutations and Expansion of the Neuroimaging Phenotype of Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC)

Carlos Ferreira, Andrea Poretti, Julie Cohen, Ada Hamosh, Sakkubai Naidu

Am J Med Genet A. Author manuscript; available in PMC 2023 Sep 18.

Published in final edited form as: Am J Med Genet A. 2014 Jul; 164A(7): 1802–1807. Published online 2014 Apr 4. doi: 10.1002/ajmg.a.36526

PMCID:: PMC10506160

Abstract Article PDF–976K

Select item 91205172.

TUBB4A interacts with MYH9 to protect the nucleus during cell migration and promotes prostate cancer via GSK3β/β-catenin signalling

Song Gao, Shuaibin Wang, Zhiying Zhao, Chao Zhang, Zhicao Liu, Ping Ye, Zhifang Xu, Baozhu Yi, Kai Jiao, Gurudatta A. Naik, Shi Wei, Soroush Rais-Bahrami, Sejong Bae, Wei-Hsiung Yang, Guru Sonpavde, Runhua Liu, Lizhong Wang

Nat Commun. 2022; 13: 2792. Published online 2022 May 19. doi: 10.1038/s41467-022-30409-1

PMCID:: PMC9120517

Abstract Article PDF–9.1M

Select item 89167313.

H-ABC– and dystonia-causing TUBB4A mutations show distinct pathogenic effects

Victor Krajka, Franca Vulinovic, Mariya Genova, Kerstin Tanzer, A. S. Jijumon, Satish Bodakuntla, Stephanie Tennstedt, Helge Mueller-Fielitz, Britta Meier, Carsten Janke, Christine Klein, Aleksandar Rakovic

Sci Adv. 2022 Mar; 8(10): eabj9229. Published online 2022 Mar 11. doi: 10.1126/sciadv.abj9229

PMCID:: PMC8916731

Abstract Article PDF–6.9M

Select item 87419914.

In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease

Avi Fellner, Yael Goldberg, Dorit Lev, Lina Basel-Salmon, Oded Shor, Felix Benninger

Sci Rep. 2022; 12: 58. Published online 2022 Jan 7. doi: 10.1038/s41598-021-04337-x

PMCID:: PMC8741991

Abstract Article PDF–3.0M

Select item 85055765.

Acquisition of Developmental Milestones in Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy

Francesco Gavazzi, Brittany A. Charsar, Catherine Williams, Justine Shults, Cesar A. Alves, Laura Adang, Adeline Vanderver

J Child Neurol. Author manuscript; available in PMC 2022 Apr 12.

Published in final edited form as: J Child Neurol. 2021 Sep; 36(10): 805–811. doi: 10.1177/08830738211000977

PMCID:: PMC8505576

Abstract Article PDF–1.2M

Select item 81059686.

DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations

Julien F. Bally, Sarah Camargos, Camila Oliveira dos Santos, Drew S. Kern, Teresa Lee, Francisco Pereira da Silva-Junior, Renato David Puga, Francisco Cardoso, Egberto Reis Barbosa, Rachita Yadav, Laurie J. Ozelius, Patricia de Carvalho Aguiar, Anthony E. Lang

Neurology. 2021 Apr 6; 96(14): e1887–e1897. doi: 10.1212/WNL.0000000000010882

PMCID:: PMC8105968

Abstract Article PDF–516K

Select item 74620557.

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

Julian Curiel, Guillermo Rodríguez Bey, Asako Takanohashi, Marianna Bugiani, Xiaoqin Fu, Nicole I Wolf, Bruce Nmezi, Raphael Schiffmann, Mona Bugaighis, Tyler Pierson, Guy Helman, Cas Simons, Marjo S van der Knaap, Judy Liu, Quasar Padiath, Adeline Vanderver

Hum Mol Genet. 2017 Nov 15; 26(22): 4506–4518. Published online 2017 Aug 29. doi: 10.1093/hmg/ddx338

PMCID:: PMC7462055

Abstract Article PDF–1.6M

Select item 69569888.

Whispering Dysphonia (DYT4 Dystonia) Is Caused by a Mutation in the TUBB4 Gene

Katja Lohmann, Robert A. Wilcox, Susen Winkler, Alfredo Ramirez, Aleksandar Rakovic, Jin-Sung Park, Björn Arns, Thora Lohnau, Justus Groen, Meike Kasten, Norbert Brüggemann, Johann Hagenah, Alexander Schmidt, Frank J. Kaiser, Kishore R. Kumar, Katja Zschiedrich, Daniel Alvarez-Fischer, Eckart Altenmüller, Andreas Ferbert, Anthony E. Lang, Alexander Münchau, Vladimir Kostic, Kristina Simonyan, Marc Agzarian, Laurie J. Ozelius, Antonius P. M. Langeveld, Carolyn M. Sue, Marina A. J. Tijssen, Christine Klein

Ann Neurol. Author manuscript; available in PMC 2020 Jan 13.

Published in final edited form as: Ann Neurol. 2013 Apr; 73(4): 537–545. Published online 2013 Apr 17. doi: 10.1002/ana.23829

PMCID:: PMC6956988

Abstract Article PDF–1.0M

Select item 57802019.

Expression of βV-Tubulin in Secretory Cells of the Fallopian Tube Epithelium Marks Cellular Atypia

Deepti Mathew, Yanhua Wang, Anne Van Arsdale, Susan Band Horwitz, Hayley McDaid

Int J Gynecol Cancer. 2018 Feb; 28(2): 363–370. Published online 2018 Jan 3. doi: 10.1097/IGC.0000000000001160

PMCID:: PMC5780201

Abstract Article PDF–1.8M

Select item 576915210.

Screening study of TUBB4A in isolated dystonia

Franca Vulinovic, Susen Schaake, Aloysius Domingo, Kishore Raj Kumar, Giovanni Defazio, Pablo Mir, Kristina Simonyan, Laurie J. Ozelius, Norbert Brüggemann, Sun Ju Chung, Aleksandar Rakovic, Katja Lohmann, Christine Klein

Parkinsonism Relat Disord. Author manuscript; available in PMC 2018 Aug 1.

Published in final edited form as: Parkinsonism Relat Disord. 2017 Aug; 41: 118–120. Published online 2017 Jun 10. doi: 10.1016/j.parkreldis.2017.06.001

PMCID:: PMC5769152

Abstract Article PDF–296K

Select item 434579011.

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

Eline M. Hamilton, Emiel Polder, Adeline Vanderver, Sakkubai Naidu, Raphael Schiffmann, Kate Fisher, Ana Boban Raguž, Luba Blumkin, H-ABC Research Group, Carola G. M. van Berkel, Quinten Waisfisz, Cas Simons, Ryan J. Taft, Truus E. M. Abbink, Nicole I. Wolf, Marjo S. van der Knaap

Brain. 2014 Jul; 137(7): 1921–1930. Published online 2014 Apr 30. doi: 10.1093/brain/awu110

PMCID:: PMC4345790

Abstract Article PDF–974K

Select item 415385212.

TUBB4A de novo mutations cause isolated hypomyelination

Amy Pizzino, Tyler Mark Pierson, Yiran Guo, Guy Helman, Sebastian Fortini, Kether Guerrero, Sulagna Saitta, Jennifer Louise Patrick Murphy, Quasar Padiath, Yi Xie, Hakon Hakonarson, Xun Xu, Tara Funari, Michelle Fox, Ryan J. Taft, Marjo S. van der Knaap, Geneviève Bernard, Raphael Schiffmann, Cas Simons, Adeline Vanderver

Neurology. 2014 Sep 2; 83(10): 898–902. doi: 10.1212/WNL.0000000000000754

PMCID:: PMC4153852

Abstract Article PDF–598K

Select item 400120213.

Pathogenic variants in TUBB4A are not found in primary dystonia

Satya R. Vemula, Jianfeng Xiao, Robert W. Bastian, Dragana Momčilović, Andrew Blitzer, Mark S. LeDoux

Neurology. 2014 Apr 8; 82(14): 1227–1230. doi: 10.1212/WNL.0000000000000294

PMCID:: PMC4001202

Abstract Article PDF–212K

Select item 369869914.

Mutations in the Autoregulatory Domain of β-Tubulin 4a Cause Hereditary Dystonia

Joshua Hersheson, Niccolo E Mencacci, Mary Davis, Nicola MacDonald, Daniah Trabzuni, Mina Ryten, Alan Pittman, Reema Paudel, Eleanna Kara, Katherine Fawcett, Vincent Plagnol, Kailash P Bhatia, Alan J Medlar, Horia C Stanescu, John Hardy, Robert Kleta, Nicholas W Wood, Henry Houlden

Ann Neurol. 2013 Apr; 73(4): 546–553. Published online 2013 Feb 19. doi: 10.1002/ana.23832

PMCID:: PMC3698699

Abstract Article PDF–561K

Select item 364462515.

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

Cas Simons, Nicole I. Wolf, Nathan McNeil, Ljubica Caldovic, Joseph M. Devaney, Asako Takanohashi, Joanna Crawford, Kelin Ru, Sean M. Grimmond, David Miller, Davide Tonduti, Johanna L. Schmidt, Robert S. Chudnow, Rudy van Coster, Lieven Lagae, Jill Kisler, Jürgen Sperner, Marjo S. van der Knaap, Raphael Schiffmann, Ryan J. Taft, Adeline Vanderver

Am J Hum Genet. 2013 May 2; 92(5): 767–773. doi: 10.1016/j.ajhg.2013.03.018