Skip to search formSkip to main contentSkip to account menu

TUBA1A gene

Known as: TUBA1A, TUBULIN, ALPHA-1A, B-ALPHA-1 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend
Microtubules are dynamic cytoskeletal polymers that mediate numerous, essential functions such as axon and dendrite growth and… 
Review
2015
Review
2015
Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes.
Mutations in alpha- and beta-tubulins are increasingly recognized as a major cause of malformations of cortical development (MCD… 
2014
2014
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease
2013
2013
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation
2011
2011
TUBA1A mutations
Background: Mutations in the TUBA1A gene have been reported in patients with lissencephaly and perisylvian pachygyria. Methods… 
Highly Cited
2010
Highly Cited
2010
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
We previously showed that mutations in LIS1 and DCX account for ∼85% of patients with the classic form of lissencephaly (LIS… 
Highly Cited
2010
Highly Cited
2010
Conditional gene expression and lineage tracing of tuba1a expressing cells during zebrafish development and retina regeneration
The tuba1a gene encodes a neural‐specific α‐tubulin isoform whose expression is restricted to the developing and regenerating… 
Highly Cited
2010
Highly Cited
2010
Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.
Malformations of cortical development are characteristic of a plethora of diseases that includes polymicrogyria, periventricular… 
Highly Cited
2008
Highly Cited
2008
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
Lissencephalies are congenital malformations responsible for epilepsy and mental retardation in children. A number of distinct… 
Highly Cited
2008
Highly Cited
2008
Refining the phenotype of α‐1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
Mutations in the α‐1a Tubulin (TUBA1A) gene have recently been found to cause cortical malformations resemblant of classical… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)