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 …

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 …

Protective role of IGF-1 and GLP-1 signaling activation in neurological dysfunctions

S Bhalla, S Mehan, A Khan, MU Rehman - Neuroscience & Biobehavioral …, 2022 - Elsevier
Abstract Insulin-like growth factor-1 (IGF-1), a pleiotropic polypeptide, plays an essential role
in CNS development and maturation. Glucagon-like peptide-1 (GLP-1) is an endogenous …

Clinical and biological progress over 50 years in Rett syndrome

H Leonard, S Cobb, J Downs - Nature Reviews Neurology, 2017 - nature.com
In the 50 years since Andreas Rett first described the syndrome that came to bear his name,
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …

MECP2 disorders: from the clinic to mice and back

LM Lombardi, SA Baker… - The Journal of clinical …, 2015 - Am Soc Clin Investig
Two severe, progressive neurological disorders characterized by intellectual disability,
autism, and developmental regression, Rett syndrome and MECP2 duplication syndrome …

Neuregulin stimulation of cardiomyocyte regeneration in mice and human myocardium reveals a therapeutic window

BD Polizzotti, B Ganapathy, S Walsh… - Science translational …, 2015 - science.org
Therapies developed for adult patients with heart failure have been shown to be ineffective
in pediatric clinical trials, leading to the recognition that new pediatric-specific therapies for …

Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons

K Griesi-Oliveira, A Acab, AR Gupta, DY Sunaga… - Molecular …, 2015 - nature.com
An increasing number of genetic variants have been implicated in autism spectrum
disorders (ASDs), and the functional study of such variants will be critical for the elucidation …