Associated Papers
Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophy.
Sase S et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2026
LncRNA TubAR complexes with TUBB4A and TUBA1A to promote microtubule assembly and maintain myelination.
Liang X et al.
Cell Discovery, 2024
Neuropathology of white matter disorders.
Jaunmuktane Z
Handbook of Clinical Neurology, 2024
Mutation in the β-tubulin gene TUBB4A results in epileptic encephalopathy associated with hypomyelinated leucodystrophy: Unexpected findings reveal genetic mosaicism.
Ben Jdila M et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023
Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).
Torii T et al.
Neurology International, 2023
A TUBB4A Met363Thr variant in pediatric hypomyelination without atrophy of the basal ganglia.
Hashiguchi M et al.
Human Genome Variation, 2022
A dominant tubulin mutation causes cerebellar neurodegeneration in a genetic model of tubulinopathy.
Fertuzinhos S et al.
Science Advances, 2022
In-silico phenotype prediction by normal mode variant analysis in TUBB4A-related disease.
Fellner A et al.
Scientific Reports, 2022
The role of protein complexes in human genetic disease.
Bergendahl LT et al.
Protein Science : a Publication of the Protein Society, 2019
TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes.
Curiel J et al.
Human Molecular Genetics, 2017
A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination.
Duncan ID et al.
Annals of Neurology, 2017
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