Advancing the understanding of autism disease mechanisms through genetics

L de la Torre-Ubieta, H Won, JL Stein… - Nature medicine, 2016 - nature.com
Progress in understanding the genetic etiology of autism spectrum disorders (ASD) has
fueled remarkable advances in our understanding of its potential neurobiological …

The role of GABAergic signalling in neurodevelopmental disorders

X Tang, R Jaenisch, M Sur - Nature Reviews Neuroscience, 2021 - nature.com
GABAergic inhibition shapes the connectivity, activity and plasticity of the brain. A series of
exciting new discoveries provides compelling evidence that disruptions in a number of key …

MeCP2 links heterochromatin condensates and neurodevelopmental disease

CH Li, EL Coffey, A Dall'Agnese, NM Hannett, X Tang… - Nature, 2020 - nature.com
Abstract Methyl CpG binding protein 2 (MeCP2) is a key component of constitutive
heterochromatin, which is crucial for chromosome maintenance and transcriptional …

Pluripotent stem cells in disease modelling and drug discovery

Y Avior, I Sagi, N Benvenisty - Nature reviews Molecular cell biology, 2016 - nature.com
Experimental modelling of human disorders enables the definition of the cellular and
molecular mechanisms underlying diseases and the development of therapies for treating …

Induced pluripotent stem cells meet genome editing

D Hockemeyer, R Jaenisch - Cell stem cell, 2016 - cell.com
It is extremely rare for a single experiment to be so impactful and timely that it shapes and
forecasts the experiments of the next decade. Here, we review how two such experiments …

Polyploidy, the nucleotype, and novelty: the impact of genome doubling on the biology of the cell

JJ Doyle, JE Coate - International Journal of Plant Sciences, 2019 - journals.uchicago.edu
Polyploidy is a key mechanism of genome evolution and speciation, particularly in plants.
Many aspects of polyploidy have been elucidated with the tools that have become available …

In vivo interrogation of gene function in the mammalian brain using CRISPR-Cas9

L Swiech, M Heidenreich, A Banerjee, N Habib… - Nature …, 2015 - nature.com
Probing gene function in the mammalian brain can be greatly assisted with methods to
manipulate the genome of neurons in vivo. The clustered, regularly interspaced, short …

[HTML][HTML] Induction of expansion and folding in human cerebral organoids

Y Li, J Muffat, A Omer, I Bosch, MA Lancaster, M Sur… - Cell stem cell, 2017 - cell.com
An expansion of the cerebral neocortex is thought to be the foundation for the unique
intellectual abilities of humans. It has been suggested that an increase in the proliferative …

Disruption of DNA-methylation-dependent long gene repression in Rett syndrome

HW Gabel, B Kinde, H Stroud, CS Gilbert, DA Harmin… - Nature, 2015 - nature.com
Disruption of the MECP2 gene leads to Rett syndrome (RTT), a severe neurological disorder
with features of autism. MECP2 encodes a methyl-DNA-binding protein that has been …

Efficient derivation of microglia-like cells from human pluripotent stem cells

J Muffat, Y Li, B Yuan, M Mitalipova, A Omer… - Nature medicine, 2016 - nature.com
Microglia, the only lifelong resident immune cells of the central nervous system (CNS), are
highly specialized macrophages that have been recognized to have a crucial role in …