A developmental and genetic classification for malformations of cortical development: update 2012

AJ Barkovich, R Guerrini, RI Kuzniecky, GD Jackson… - Brain, 2012 - academic.oup.com
Malformations of cerebral cortical development include a wide range of developmental
disorders that are common causes of neurodevelopmental delay and epilepsy. In addition …

Genetic causes of microcephaly and lessons for neuronal development

EC Gilmore, CA Walsh - Wiley Interdisciplinary Reviews …, 2013 - Wiley Online Library
The study of human developmental microcephaly is providing important insights into brain
development. It has become clear that developmental microcephalies are associated with …

The human microcephaly protein STIL interacts with CPAP and is required for procentriole formation

CJC Tang, SY Lin, WB Hsu, YN Lin, CT Wu… - The EMBO …, 2011 - embopress.org
Centriole duplication involves the growth of a procentriole next to the parental centriole.
Mutations in STIL and CPAP/CENPJ cause primary microcephaly (MCPH). Here, we show …

The PLK4–STIL–SAS-6 module at the core of centriole duplication

C Arquint, EA Nigg - Biochemical Society Transactions, 2016 - portlandpress.com
Centrioles are microtubule-based core components of centrosomes and cilia. They are
duplicated exactly once during S-phase progression. Central to formation of each new …

Cell-cycle-regulated expression of STIL controls centriole number in human cells

C Arquint, KF Sonnen, YD Stierhof… - Journal of cell …, 2012 - journals.biologists.com
Control of centriole number is crucial for genome stability and ciliogenesis. Here, we
characterize the role of human STIL, a protein that displays distant sequence similarity to the …

STIL is required for centriole duplication in human cells

J Vulprecht, A David, A Tibelius, A Castiel… - Journal of cell …, 2012 - journals.biologists.com
Centrioles are key structural elements of centrosomes and primary cilia. In mammals, only a
few proteins including PLK4, CPAP (CENPJ), SAS6, CEP192, CEP152 and CEP135 have …

Malformations of cortical development and epilepsy

AJ Barkovich, WB Dobyns… - Cold Spring …, 2015 - perspectivesinmedicine.cshlp.org
Malformations of cortical development (MCDs) are an important cause of epilepsy and an
extremely interesting group of disorders from the perspective of brain development and its …

Centrosomes, microtubules and neuronal development

M Kuijpers, CC Hoogenraad - Molecular and Cellular Neuroscience, 2011 - Elsevier
The formation of complex nervous systems requires processes that coordinate proliferation,
migration and differentiation of neuronal cells. The remarkable morphological …

Loss of centrioles causes chromosomal instability in vertebrate somatic cells

JH Sir, M Pütz, O Daly, CG Morrison, M Dunning… - Journal of Cell …, 2013 - rupress.org
Most animal cells contain a centrosome, which comprises a pair of centrioles surrounded by
an ordered pericentriolar matrix (PCM). Although the role of this organelle in organizing the …

[PDF][PDF] Selective chemical crosslinking reveals a Cep57-Cep63-Cep152 centrosomal complex

G Lukinavičius, D Lavogina, M Orpinell, K Umezawa… - Current Biology, 2013 - cell.com
The centrosome functions as the main microtubule-organizing center of animal cells and is
crucial for several fundamental cellular processes [1]. Abnormalities in centrosome number …