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Together, DYT4-associated TUBB4A mutants themselves form aberrant tubulin (zeige TUBB Proteine) 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 (zeige TOR1A Proteine), THAP1 (zeige THAP1 Proteine), and TUBB4 (zeige TUBB3 Proteine) appears to have low diagnostic yield in sporadic spasmodic dysphonia. In our cohort, only 2 patients tested positive for novel/rare variants in THAP1 (zeige THAP1 Proteine).
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 (zeige TUBB Proteine) isotype, betaIVa-tubulin (zeige TUBB Proteine), was the most up-regulated gene compared with other beta-tubulin (zeige TUBB Proteine) isotypes in H460 floating cells, concomitant with elevated ERK (zeige EPHB2 Proteine) activation
The study adds complicated hereditary spastic paraplegia to the clinical spectrum of TUBB4A-associated neurological disorders.
Data suggested H-ABC (zeige ABCB6 Proteine) 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 (zeige ABCB6 Proteine)).
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 (zeige TUBB Proteine) 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