Fundamental elements in autism: from neurogenesis and neurite growth to synaptic plasticity

J Gilbert, HY Man - Frontiers in cellular neuroscience, 2017 - frontiersin.org
Autism spectrum disorder (ASD) is a set of neurodevelopmental disorders with a high
prevalence and impact on society. ASDs are characterized by deficits in both social behavior …

Neurogenesis during development of the vertebrate central nervous system

JTML Paridaen, WB Huttner - EMBO reports, 2014 - embopress.org
During vertebrate development, a wide variety of cell types and tissues emerge from a single
fertilized oocyte. One of these tissues, the central nervous system, contains many types of …

Human iPSC-derived cerebral organoids model cellular features of lissencephaly and reveal prolonged mitosis of outer radial glia

M Bershteyn, TJ Nowakowski, AA Pollen, E Di Lullo… - Cell stem cell, 2017 - cell.com
Classical lissencephaly is a genetic neurological disorder associated with mental
retardation and intractable epilepsy, and Miller-Dieker syndrome (MDS) is the most severe …

An organoid-based model of cortical development identifies non-cell-autonomous defects in Wnt signaling contributing to Miller-Dieker syndrome

V Iefremova, G Manikakis, O Krefft, A Jabali… - Cell reports, 2017 - cell.com
Miller-Dieker syndrome (MDS) is caused by a heterozygous deletion of chromosome 17p13.
3 involving the genes LIS1 and YWHAE (coding for 14.3. 3ε) and leads to malformations …

Recurrent microdeletions at 15q11. 2 and 16p13. 11 predispose to idiopathic generalized epilepsies

CGF de Kovel, H Trucks, I Helbig, HC Mefford, C Baker… - Brain, 2010 - academic.oup.com
Idiopathic generalized epilepsies account for 30% of all epilepsies. Despite a predominant
genetic aetiology, the genetic factors predisposing to idiopathic generalized epilepsies …

Spindle orientation during asymmetric cell division

KH Siller, CQ Doe - Nature cell biology, 2009 - nature.com
Abstract Development of a multicellular organism from a fertilized egg depends on a precise
balance between symmetric cell divisions to expand the pool of similar cells, and …

Centrosome amplification causes microcephaly

V Marthiens, MA Rujano, C Pennetier, S Tessier… - Nature cell …, 2013 - nature.com
Centrosome amplification is a hallmark of human tumours. In flies, extra centrosomes cause
spindle position defects that result in the expansion of the neural stem cell (NSC) pool and …

Human mutations in NDE1 cause extreme microcephaly with lissencephaly

FS Alkuraya, X Cai, C Emery, GH Mochida… - The American Journal of …, 2011 - cell.com
Genes disrupted in human microcephaly (meaning" small brain") define key regulators of
neural progenitor proliferation and cell-fate specification. In comparison, genes mutated in …

Deficiencies in lamin B1 and lamin B2 cause neurodevelopmental defects and distinct nuclear shape abnormalities in neurons

C Coffinier, HJ Jung, C Nobumori… - Molecular biology of …, 2011 - Am Soc Cell Biol
Neuronal migration is essential for the development of the mammalian brain. Here, we
document severe defects in neuronal migration and reduced numbers of neurons in lamin …

Rare deletions at 16p13. 11 predispose to a diverse spectrum of sporadic epilepsy syndromes

EL Heinzen, RA Radtke, TJ Urban, GL Cavalleri… - The American Journal of …, 2010 - cell.com
Deletions at 16p13. 11 are associated with schizophrenia, mental retardation, and most
recently idiopathic generalized epilepsy. To evaluate the role of 16p13. 11 deletions, as well …