Signalling pathways in autism spectrum disorder: mechanisms and therapeutic implications

CC Jiang, LS Lin, S Long, XY Ke, K Fukunaga… - Signal transduction and …, 2022 - nature.com
Autism spectrum disorder (ASD) is a prevalent and complex neurodevelopmental disorder
which has strong genetic basis. Despite the rapidly rising incidence of autism, little is known …

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 …

Dendritic spines: Revisiting the physiological role

SB Chidambaram, AG Rathipriya, SR Bolla… - Progress in Neuro …, 2019 - Elsevier
Dendritic spines are small, thin, specialized protrusions from neuronal dendrites, primarily
localized in the excitatory synapses. Sophisticated imaging techniques revealed that …

Advances in understanding of Rett syndrome and MECP2 duplication syndrome: prospects for future therapies

AJ Sandweiss, VL Brandt, HY Zoghbi - The Lancet Neurology, 2020 - thelancet.com
The X-linked gene encoding MECP2 is involved in two severe and complex
neurodevelopmental disorders. Loss of function of the MeCP2 protein underlies Rett …

Rett syndrome: insights into genetic, molecular and circuit mechanisms

JPK Ip, N Mellios, M Sur - Nature Reviews Neuroscience, 2018 - nature.com
Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the gene
encoding methyl-CpG-binding protein 2 (MeCP2). Almost two decades of research into RTT …

Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders

M Sahin, M Sur - Science, 2015 - science.org
BACKGROUND Neurodevelopmental disorders are caused by abnormalities in the
developing brain. Such abnormalities can occur as a result of germline or somatic mutations …

MeCP2-regulated miRNAs control early human neurogenesis through differential effects on ERK and AKT signaling

N Mellios, DA Feldman, SD Sheridan, JPK Ip… - Molecular …, 2018 - nature.com
Rett syndrome (RTT) is an X-linked, neurodevelopmental disorder caused primarily by
mutations in the methyl-CpG-binding protein 2 (MECP2) gene, which encodes a …

Lessons learned from studying syndromic autism spectrum disorders

Y Sztainberg, HY Zoghbi - Nature neuroscience, 2016 - nature.com
Syndromic autism spectrum disorders represent a group of childhood neurological
conditions, typically associated with chromosomal abnormalities or mutations in a single …

Insulin-like growth factor 1: at the crossroads of brain development and aging

S Wrigley, D Arafa, D Tropea - Frontiers in cellular neuroscience, 2017 - frontiersin.org
Insulin-like growth factor 1 (IGF1) is a polypeptide hormone structurally similar to insulin. It is
central to the somatotropic axis, acting downstream of growth hormone (GH). It activates …