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Together, DYT4-associated TUBB4A mutants themselves form aberrant tubulin (show TUBB Proteins) networks and inhibit neuronal process growth, possibly explaining progress through the pathological states at cellular levels.
Genetic screening targeted at currently known disease-causing mutations in TOR1A (show TOR1A Proteins), THAP1 (show THAP1 Proteins), and TUBB4 (show TUBB3 Proteins) appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1 (show THAP1 Proteins).
TUBB4A-mutated patients manifest a comparable clinical and neuroimaging picture but they can differ from each other in terms of rate of disease progression
our data indicate that TUBB4A coding mutations do not play a critical role in the broad population of isolated dystonia patients
a paclitaxel-resistant beta-tubulin (show TUBB Proteins) isotype, betaIVa-tubulin (show TUBB Proteins), was the most up-regulated gene compared with other beta-tubulin (show TUBB Proteins) isotypes in H460 floating cells, concomitant with elevated ERK (show EPHB2 Proteins) activation
The study adds complicated hereditary spastic paraplegia to the clinical spectrum of TUBB4A-associated neurological disorders.
Data suggested H-ABC (show ABCB6 Proteins) and DYT4 belong to a continuous phenotypic spectrum associated with TUBB4A mutations.
Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC (show ABCB6 Proteins)).
Novel TUBB4A mutations expands the phenotype of TUBB4A-related hypomyelinating conditions beyond hypomyelination with atrophy of the basal ganglia and cerebellum.
This study demonistrated that Hypomyelination with atrophy of the basal ganglia and cerebellum with TUBB4A mutation.
The axial elastic modulus of tubulin (show TUBB Proteins) diminishes as the length of the monomer increases.
Differentiation-mediated activation of JunD results in enhanced TUBB4a expression in P19 embryonal carcinoma cells.
beta 5-tubulin\; polymerizes to form microtubules\; member of a family of structural proteins
class IVa beta-tubulin
, tubulin 5 beta
, tubulin beta-4 chain
, tubulin beta-4A chain
, tubulin, beta 4 class IVa
, tubulin, beta, 5
, tubulin beta-3 chain
, tubulin, beta, 3
, tubulin, beta, 4
, tubulin beta-2B chain
, tubulin beta-5 chain
, tubulin, beta 2A
, tubulin, beta 2B class IIb
, tubulin, beta polypeptide
, beta 5-tubulin
, c(beta)7 tubulin
, tubulin beta 4'
, tubulin beta-7 chain
, tubulin, beta 4
, beta-tubulin class-III
, beta-Tubulin at 56D
, tubulin, beta 2C
, beta-4 tubulin
, LOW QUALITY PROTEIN: tubulin beta-4A chain
, Tubulin beta-4 chain
, tubulin beta 4A class IVa S homeolog
, tubulin beta5
, tubulin, beta 4A class IVa