| Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India. | Expanding the phenotypic and genotypic spectrum of DYT-TUBB4A with seven patients from India.
Garg D, Holla VV, Ganguly J, Rajan R, Saini A, Agarwal A, Radhakrishnan DM, Basu P, Mondal B, Dhar D, Kamble N, Yadav R, Muthusamy B, Kumar H, Srivastava AK, Pal PK. | 07/9/2024 |
| [Analysis of TUBB4A gene variant in a patient with adolescent-onset hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum]. | [Analysis of TUBB4A gene variant in a patient with adolescent-onset hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum].
Ying Z, Cheng X, Xu X, Ma Z, Chen Z, Chen W, Qin L, Niu Q. | 10/20/2023 |
| Mutation in the beta-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism. | Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism.
Ben Jdila M, Kammoun F, Abdelmaksoud-Dammak R, Triki C, Fakhfakh F. | 10/11/2023 |
| Novel TUBB4A mutation in a family with hereditary spastic paraplegia. | Novel TUBB4A mutation in a family with hereditary spastic paraplegia.
Lv D, Lu J, Zhao G, Liang H, Zhao G. | 07/17/2023 |
| TUBB4A interacts with MYH9 to protect the nucleus during cell migration and promotes prostate cancer via GSK3beta/beta-catenin signalling. | TUBB4A interacts with MYH9 to protect the nucleus during cell migration and promotes prostate cancer via GSK3β/β-catenin signalling.
Gao S, Wang S, Zhao Z, Zhang C, Liu Z, Ye P, Xu Z, Yi B, Jiao K, Naik GA, Wei S, Rais-Bahrami S, Bae S, Yang WH, Sonpavde G, Liu R, Wang L., Free PMC Article | 05/28/2022 |
| H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects. | H-ABC- and dystonia-causing TUBB4A mutations show distinct pathogenic effects.
Krajka V, Vulinovic F, Genova M, Tanzer K, Jijumon AS, Bodakuntla S, Tennstedt S, Mueller-Fielitz H, Meier B, Janke C, Klein C, Rakovic A., Free PMC Article | 04/23/2022 |
| In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease. | In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.
Fellner A, Goldberg Y, Lev D, Basel-Salmon L, Shor O, Benninger F., Free PMC Article | 02/26/2022 |
| Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy. | Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy.
Gavazzi F, Charsar BA, Williams C, Shults J, Alves CA, Adang L, Vanderver A., Free PMC Article | 02/26/2022 |
| Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBbeta4A mutation. | Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation.
Lamartine S Monteiro M, Vandernoot I, Desmyter L, Wermenbol V, Naeije G, Remiche G. | 07/3/2021 |
| Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing. | Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing.
Schmidt JL, Pizzino A, Nicholl J, Foley A, Wang Y, Rosenfeld JA, Mighion L, Bean L, da Silva C, Cho MT, Truty R, Garcia J, Speare V, Blanco K, Powis Z, Hobson GM, Kirwin S, Krock B, Lee H, Deignan JL, Westemeyer MA, Subaran RL, Thiffault I, Tsai EA, Fang T, Helman G, Vanderver A., Free PMC Article | 06/5/2021 |
| DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations. | DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.
Bally JF, Camargos S, Oliveira Dos Santos C, Kern DS, Lee T, Pereira da Silva-Junior F, Puga RD, Cardoso F, Barbosa ER, Yadav R, Ozelius LJ, de Carvalho Aguiar P, Lang AE., Free PMC Article | 04/17/2021 |
| Neuroblastoma cells expressing TUBB4A mutations p.D249N and p.A271T showed reduced neurite outgrowth, less dynamic microtubules, and an altered Kif-5 binding affinity. Endogenously mutated induced pluripotent stem cell (iPSC)-derived neurons from patients and in CRISPR/Cas9-derived heterozygous TUBB4A knockout iPSC-derived neurons, we detected alterations in mitochondrial transport. | Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
Vulinovic F, Krajka V, Hausrat TJ, Seibler P, Alvarez-Fischer D, Madoev H, Park JS, Kumar KR, Sue CM, Lohmann K, Kneussel M, Klein C, Rakovic A. | 10/12/2019 |
| In summary, betaV-tubulin was localized to secretory cells of the distal Fallopian tube epithelium and its expression varied according to the clinical diagnosis. | Expression of βV-Tubulin in Secretory Cells of the Fallopian Tube Epithelium Marks Cellular Atypia.
Mathew D, Wang Y, Van Arsdale A, Horwitz SB, McDaid H., Free PMC Article | 01/12/2019 |
| TUBB3 and TUBB4 are necessary for the transport and proper localization of N-cadherin within the plasma membrane. | Tubulin beta 3 and 4 are involved in the generation of early fibrotic stages.
Wawro ME, Sobierajska K, Ciszewski WM, Wagner W, Frontczak M, Wieczorek K, Niewiarowska J. | 05/19/2018 |
| The data of this studies suggest that mutations in TUBB4A exceedingly rarely contribute to the etiology of isolated dystonia. | Screening study of TUBB4A in isolated dystonia.
Vulinovic F, Schaake S, Domingo A, Kumar KR, Defazio G, Mir P, Simonyan K, Ozelius LJ, Brüggemann N, Chung SJ, Rakovic A, Lohmann K, Klein C., Free PMC Article | 04/28/2018 |
| The different clinical phenotypes associated with TUBB4A reflect the selective and specific cellular effects of the causative mutations. Cellular specificity of disease pathogenesis is relevant to developing targeted treatments for this disabling condition. | TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
Curiel J, Rodríguez Bey G, Takanohashi A, Bugiani M, Fu X, Wolf NI, Nmezi B, Schiffmann R, Bugaighis M, Pierson T, Helman G, Simons C, van der Knaap MS, Liu J, Padiath Q, Vanderver A., Free PMC Article | 03/24/2018 |
| Together, DYT4-associated TUBB4A mutants themselves form aberrant tubulin networks and inhibit neuronal process growth, possibly explaining progress through the pathological states at cellular levels. | Dystonia-4 (DYT4)-associated TUBB4A mutants exhibit disorganized microtubule networks and inhibit neuronal process growth.
Watanabe N, Itakaoka M, Seki Y, Morimoto T, Homma K, Miyamoto Y, Yamauchi J. | 12/30/2017 |
| Genetic screening targeted at currently known disease-causing mutations in TOR1A, THAP1, and TUBB4 appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1. | Dystonia-Causing Mutations as a Contribution to the Etiology of Spasmodic Dysphonia.
de Gusmão CM, Fuchs T, Moses A, Multhaupt-Buell T, Song PC, Ozelius LJ, Franco RA, Sharma N., Free PMC Article | 07/22/2017 |
| TUBB4A-mutated patients manifest a comparable clinical and neuroimaging picture but they can differ from each other in terms of rate of disease progression | TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients.
Tonduti D, Aiello C, Renaldo F, Dorboz I, Saaman S, Rodriguez D, Fettah H, Elmaleh M, Biancheri R, Barresi S, Boccone L, Orcesi S, Pichiecchio A, Zangaglia R, Maurey H, Rossi A, Boespflug-Tanguy O, Bertini E. | 10/1/2016 |
| our data indicate that TUBB4A coding mutations do not play a critical role in the broad population of isolated dystonia patients | Large-scale TUBB4A mutational screening in isolated dystonia and controls.
Zech M, Boesch S, Jochim A, Graf S, Lichtner P, Peters A, Gieger C, Mueller J, Poewe W, Haslinger B, Winkelmann J. | 08/6/2016 |
| a paclitaxel-resistant beta-tubulin isotype, betaIVa-tubulin, was the most up-regulated gene compared with other beta-tubulin isotypes in H460 floating cells, concomitant with elevated ERK activation | Non-adherent culture induces paclitaxel resistance in H460 lung cancer cells via ERK-mediated up-regulation of βIVa-tubulin.
Atjanasuppat K, Lirdprapamongkol K, Jantaree P, Svasti J. | 04/23/2016 |
| The study adds complicated hereditary spastic paraplegia to the clinical spectrum of TUBB4A-associated neurological disorders. | Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
Kancheva D, Chamova T, Guergueltcheva V, Mitev V, Azmanov DN, Kalaydjieva L, Tournev I, Jordanova A. | 04/9/2016 |
| Data suggested H-ABC and DYT4 belong to a continuous phenotypic spectrum associated with TUBB4A mutations. | H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
Erro R, Hersheson J, Ganos C, Mencacci NE, Stamelou M, Batla A, Thust SC, Bras JM, Guerreiro RJ, Hardy J, Quinn NP, Houlden H, Bhatia KP. | 04/9/2016 |
| Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). | Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).
Ferreira C, Poretti A, Cohen J, Hamosh A, Naidu S., Free PMC Article | 08/22/2015 |
| Novel TUBB4A mutations expands the phenotype of TUBB4A-related hypomyelinating conditions beyond hypomyelination with atrophy of the basal ganglia and cerebellum. | TUBB4A de novo mutations cause isolated hypomyelination.
Pizzino A, Pierson TM, Guo Y, Helman G, Fortini S, Guerrero K, Saitta S, Murphy JL, Padiath Q, Xie Y, Hakonarson H, Xu X, Funari T, Fox M, Taft RJ, van der Knaap MS, Bernard G, Schiffmann R, Simons C, Vanderver A., Free PMC Article | 12/27/2014 |