The wide spectrum of tubulinopathies: what are the key features for the diagnosis?

N Bahi-Buisson, K Poirier, F Fourniol, Y Saillour… - Brain, 2014 - academic.oup.com
Complex cortical malformations associated with mutations in tubulin genes: TUBA1A,
TUBA8, TUBB2B, TUBB3, TUBB5 and TUBG1 commonly referred to as tubulinopathies, are …

Recognizable cerebellar dysplasia associated with mutations in multiple tubulin genes

R Oegema, TD Cushion, IG Phelps… - Human molecular …, 2015 - academic.oup.com
Mutations in alpha-and beta-tubulins are increasingly recognized as a major cause of
malformations of cortical development (MCD), typically lissencephaly, pachygyria and …

Overlapping cortical malformations and mutations in TUBB2B and TUBA1A

TD Cushion, WB Dobyns, JGL Mullins, N Stoodley… - Brain, 2013 - academic.oup.com
Polymicrogyria and lissencephaly are causally heterogeneous disorders of cortical brain
development, with distinct neuropathological and neuroimaging patterns. They can be …

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations

MA Tischfield, GY Cederquist, ML Gupta Jr… - Current opinion in …, 2011 - Elsevier
A spectrum of neurological disorders characterized by abnormal neuronal migration,
differentiation, and axon guidance and maintenance have recently been attributed to …

Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

C Fallet-Bianco, A Laquerrière, K Poirier… - Acta neuropathologica …, 2014 - Springer
Complex cortical malformations associated with mutations in tubulin genes are commonly
referred to as “Tubulinopathies”. To further characterize the mutation frequency and …

Tubulin genes and malformations of cortical development

R Romaniello, F Arrigoni, AE Fry, MT Bassi… - European journal of …, 2018 - Elsevier
A large number of genes encoding for tubulin proteins are expressed in the developing
brain. Each is subject to specific spatial and temporal expression patterns. However, most …

Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects

XH Jaglin, J Chelly - Trends in Genetics, 2009 - cell.com
The fine tuning of proliferation and neurogenesis, neuronal migration and differentiation and
connectivity underlies the proper development of the cerebral cortex. Mutations in genes …

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy

TD Cushion, AR Paciorkowski, DT Pilz… - The American Journal of …, 2014 - cell.com
Tubulins, and microtubule polymers into which they incorporate, play critical mechanical
roles in neuronal function during cell proliferation, neuronal migration, and postmigrational …

Mutations in α-and β-tubulin encoding genes: implications in brain malformations

R Romaniello, F Arrigoni, MT Bassi, R Borgatti - Brain and Development, 2015 - Elsevier
The tubulin gene family is mainly expressed in post-mitotic neurons during cortical
development with a specific spatial and temporal expression pattern. Members of this family …

[HTML][HTML] Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities

M Breuss, JIT Heng, K Poirier, G Tian, XH Jaglin, Z Qu… - Cell reports, 2012 - cell.com
The formation of the mammalian cortex requires the generation, migration, and
differentiation of neurons. The vital role that the microtubule cytoskeleton plays in these …