Varaico: Literature-Extracted Genetic Variants

Gene:TUBB4A
Variant:p.A302T
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TUBB4A

NM_006087.4:p.A302T

Associated Papers

Male Rats Carrying the Taiep Mutation Show Alterations in the Dendritic Arborization of CA1 and CA3 Neurons.

Medina-Flores F et al.

Hippocampus, 2026

Therapeutic suppression of Tubb4a rescues H-ABC leukodystrophy.

Sase S et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2026

4-aminopyridine improves evoked potentials and ambulation in the taiep rat: A model of hypomyelination with atrophy of basal ganglia and cerebellum.

Eguibar JR et al.

Plos One, 2024

Molecular Pathogenic Mechanisms of Hypomyelinating Leukodystrophies (HLDs).

Torii T et al.

Neurology International, 2023

H-ABC tubulinopathy revealed by label-free second harmonic generation microscopy.

Alata M et al.

Scientific Reports, 2022

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

Krajka V et al.

Science Advances, 2022

A dominant tubulin mutation causes cerebellar neurodegeneration in a genetic model of tubulinopathy.

Fertuzinhos S et al.

Science Advances, 2022

Auditory impairment in H-ABC tubulinopathy.

Lopez-Juarez A et al.

The Journal of Comparative Neurology, 2021

Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.

Fourel G et al.

Febs Letters, 2020

TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model.

Sase S et al.

Elife, 2020

MRI Features in a Rat Model of H-ABC Tubulinopathy.

Garduno-Robles A et al.

Frontiers in Neuroscience, 2020

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

The emerging role of the tubulin code: From the tubulin molecule to neuronal function and disease.

Chakraborti S et al.

Cytoskeleton (hoboken, N.j.), 2016

Microtubules and neurodevelopmental disease: the movers and the makers.

Breuss M et al.

Advances in Experimental Medicine and Biology, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."