Malformations of cortical development: clinical features and genetic causes

R Guerrini, WB Dobyns - The Lancet Neurology, 2014 - thelancet.com
Malformations of cortical development are common causes of developmental delay and
epilepsy. Some patients have early, severe neurological impairment, but others have …

[HTML][HTML] Neuronal survival in the brain: neuron type-specific mechanisms

U Pfisterer, K Khodosevich - Cell death & disease, 2017 - nature.com
Neurogenic regions of mammalian brain produce many more neurons that will eventually
survive and reach a mature stage. Developmental cell death affects both embryonically …

Genetics and mechanisms leading to human cortical malformations

DM Romero, N Bahi-Buisson, F Francis - Seminars in cell & developmental …, 2018 - Elsevier
Cerebral cortical development involves a complex series of highly regulated steps to
generate the laminated structure of the adult neocortex. Neuronal migration is a key part of …

Tubulin isotypes–functional insights from model organisms

ET Nsamba, ML Gupta Jr - Journal of cell science, 2022 - journals.biologists.com
The microtubule cytoskeleton is assembled from the α-and β-tubulin subunits of the
canonical tubulin heterodimer, which polymerizes into microtubules, and a small number of …

[HTML][HTML] 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 …

Neuronal migration disorders: focus on the cytoskeleton and epilepsy

MA Stouffer, JA Golden, F Francis - Neurobiology of disease, 2016 - Elsevier
A wide spectrum of focal, regional, or diffuse structural brain abnormalities, collectively
known as malformations of cortical development (MCDs), frequently manifest with …

Experimental models of human cortical malformations: from mammals to zebrafish

FV Costa, KN Zabegalov, TO Kolesnikova… - Neuroscience & …, 2023 - Elsevier
Human neocortex controls and integrates higher brain processes including cognition,
emotions, perception and complex behaviors. Aberrant cortical development can be …

Copb2 is essential for embryogenesis and hypomorphic mutations cause human microcephaly

A DiStasio, A Driver, K Sund, M Donlin… - Human Molecular …, 2017 - academic.oup.com
Primary microcephaly is a congenital brain malformation characterized by a head
circumference less than three standard deviations below the mean for age and sex and …

Insights on the role of α-and β-tubulin isotypes in early brain development

MSA Tantry, K Santhakumar - Molecular Neurobiology, 2023 - Springer
Tubulins are the highly conserved subunit of microtubules which involve in various
fundamental functions including brain development. Microtubules help in neuronal …

[HTML][HTML] Differential requirements of tubulin genes in mammalian forebrain development

E Bittermann, Z Abdelhamed, RP Liegel, C Menke… - PLoS …, 2019 - journals.plos.org
Tubulin genes encode a series of homologous proteins used to construct microtubules
which are essential for multiple cellular processes. Neural development is particularly reliant …