The hyh mutation uncovers roles for αSnap in apical protein localization and control of neural cell fate

TH Chae, S Kim, KE Marz, PI Hanson, CA Walsh - Nature genetics, 2004 - nature.com
The hyh (hydrocephalus with hop gait) mouse shows a markedly small cerebral cortex at
birth and dies postnatally from progressive enlargement of the ventricular system,. Here we …

Adherens junctions: guardians of cortical development

L Veeraval, CJ O'Leary, HM Cooper - Frontiers in cell and …, 2020 - frontiersin.org
Apical radial glia comprise the pseudostratified neuroepithelium lining the embryonic lateral
ventricles and give rise to the extensive repertoire of pyramidal neuronal subtypes of the …

Linking cell polarity to cortical development and malformations

J Hakanen, N Ruiz-Reig, F Tissir - Frontiers in cellular neuroscience, 2019 - frontiersin.org
Cell polarity refers to the asymmetric distribution of signaling molecules, cellular organelles,
and cytoskeleton in a cell. Neural progenitors and neurons are highly polarized cells in …

Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth

W Seifert, J Kühnisch, T Maritzen, S Lommatzsch… - Journal of Biological …, 2015 - ASBMB
Postnatal microcephaly, intellectual disability, and progressive retinal dystrophy are major
features of autosomal recessive Cohen syndrome, which is caused by mutations in the gene …

Curing epilepsy: progress and future directions

MP Jacobs, GG Leblanc, A Brooks-Kayal, FE Jensen… - Epilepsy & Behavior, 2009 - Elsevier
During the past decade, substantial progress has been made in delineating clinical features
of the epilepsies and the basic mechanisms responsible for these disorders. Eleven human …

Untangling cortical complexity during development

T Mukhtar, V Taylor - Journal of experimental neuroscience, 2018 - journals.sagepub.com
The cerebral cortex is composed of billions of morphologically and functionally distinct
neurons. These neurons are produced and organized in a regimental fashion during …

Periventricular heterotopia, mental retardation, and epilepsy associated with 5q14. 3-q15 deletion

C Cardoso, A Boys, E Parrini, C Mignon-Ravix… - Neurology, 2009 - AAN Enterprises
Background: Periventricular heterotopia (PH) is an etiologically heterogeneous disorder
characterized by nodules of neurons ectopically placed along the lateral ventricles. Most …

Cellullar insights into cerebral cortical development: focusing on the locomotion mode of neuronal migration

T Kawauchi - Frontiers in cellular neuroscience, 2015 - frontiersin.org
The mammalian brain consists of numerous compartments that are closely connected with
each other via neural networks, comprising the basis of higher order brain functions. The …

ROCK-mediated contractility, tight junctions and channels contribute to the conversion of a preapical patch into apical surface during isochoric lumen initiation

A Ferrari, A Veligodskiy, U Berge… - Journal of cell …, 2008 - journals.biologists.com
Epithelial cells assemble into three-dimensional aggregates to generate lumen-containing
organ substructures. Cells therein contact the extracellular matrix with their basal surface …

RNA-binding deficient TDP-43 drives cognitive decline in a mouse model of TDP-43 proteinopathy

JC Necarsulmer, JM Simon, BA Evangelista, Y Chen… - Elife, 2023 - elifesciences.org
TDP-43 proteinopathies including frontotemporal lobar degeneration (FTLD) and
amyotrophic lateral sclerosis (ALS) are neurodegenerative disorders characterized by …