Genetics of human brain development

Y Zhou, H Song, G Ming - Nature Reviews Genetics, 2024 - nature.com
Brain development in humans is achieved through precise spatiotemporal genetic control,
the mechanisms of which remain largely elusive. Recently, integration of technological …

[HTML][HTML] Axonal transport: cargo-specific mechanisms of motility and regulation

S Maday, AE Twelvetrees, AJ Moughamian… - Neuron, 2014 - cell.com
Axonal transport is essential for neuronal function, and many neurodevelopmental and
neurodegenerative diseases result from mutations in the axonal transport machinery …

A human forebrain organoid model of fragile X syndrome exhibits altered neurogenesis and highlights new treatment strategies

Y Kang, Y Zhou, Y Li, Y Han, J Xu, W Niu, Z Li… - Nature …, 2021 - nature.com
Fragile X syndrome (FXS) is caused by the loss of fragile X mental retardation protein
(FMRP), an RNA-binding protein that can regulate the translation of specific mRNAs. In this …

De novo mutations in epileptic encephalopathies

Nature, 2013 - nature.com
Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders
for which the cause is often unknown. Here we report a screen for de novo mutations in …

[HTML][HTML] Tridimensional visualization and analysis of early human development

M Belle, D Godefroy, G Couly, SA Malone, F Collier… - Cell, 2017 - cell.com
Generating a precise cellular and molecular cartography of the human embryo is essential
to our understanding of the mechanisms of organogenesis in normal and pathological …

How the extracellular matrix shapes neural development

KR Long, WB Huttner - Royal Society Open Biology, 2019 - royalsocietypublishing.org
During development, both cells and tissues must acquire the correct shape to allow their
proper function. This is especially relevant in the nervous system, where the shape of …

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 …

[HTML][HTML] Nuclear positioning

GG Gundersen, HJ Worman - Cell, 2013 - cell.com
The nucleus is the largest organelle and is commonly depicted in the center of the cell. Yet
during cell division, migration, and differentiation, it frequently moves to an asymmetric …

[HTML][HTML] The role of the microtubule cytoskeleton in neurodevelopmental disorders

M Lasser, J Tiber, LA Lowery - Frontiers in cellular neuroscience, 2018 - frontiersin.org
Neurons depend on the highly dynamic microtubule (MT) cytoskeleton for many different
processes during early embryonic development including cell division and migration …

Cerebral cortex expansion and folding: what have we learned?

V Fernández, C Llinares‐Benadero, V Borrell - The EMBO journal, 2016 - embopress.org
One of the most prominent features of the human brain is the fabulous size of the cerebral
cortex and its intricate folding. Cortical folding takes place during embryonic development …