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 …

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 …

MicroRNAs in neural development: from master regulators to fine-tuners

M Rajman, G Schratt - Development, 2017 - journals.biologists.com
The proper formation and function of neuronal networks is required for cognition and
behavior. Indeed, pathophysiological states that disrupt neuronal networks can lead to …

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 …

Jointly reduced inhibition and excitation underlies circuit-wide changes in cortical processing in Rett syndrome

A Banerjee, RV Rikhye… - Proceedings of the …, 2016 - National Acad Sciences
Rett syndrome (RTT) arises from loss-of-function mutations in methyl-CpG binding protein 2
gene (Mecp2), but fundamental aspects of its physiological mechanisms are unresolved …

Functional recovery with recombinant human IGF1 treatment in a mouse model of Rett Syndrome

J Castro, RI Garcia, S Kwok… - Proceedings of the …, 2014 - National Acad Sciences
Rett Syndrome is a neurodevelopmental disorder that arises from mutations in the X-linked
gene methyl-CpG binding protein 2 (MeCP2). MeCP2 has a large number of targets and a …

Linking deregulation of non-coding RNA to the core pathophysiology of Alzheimer's disease: An integrative review

MJ Millan - Progress in neurobiology, 2017 - Elsevier
The human genome encodes a vast repertoire of protein non-coding RNAs (ncRNA), some
specific to the brain. MicroRNAs, which interfere with the translation of target mRNAs, are of …

Regulation of IGF-1 signaling by microRNAs

HJ Jung, Y Suh - Frontiers in genetics, 2015 - frontiersin.org
The insulin-like growth factor 1 (IGF-1) signaling pathway regulates critical biological
processes including development, homeostasis, and aging. Dysregulation of this pathway …