Impaired neurodevelopmental pathways in autism spectrum disorder: a review of signaling mechanisms and crosstalk

S Kumar, K Reynolds, Y Ji, R Gu, S Rai… - Journal of …, 2019 - Springer
Background The development of an autistic brain is a highly complex process as evident
from the involvement of various genetic and non-genetic factors in the etiology of the autism …

Potential crosstalk between sonic hedgehog‐WNT signaling and neurovascular molecules: Implications for blood–brain barrier integrity in autism spectrum disorder

E Gozal, R Jagadapillai, J Cai… - Journal of …, 2021 - Wiley Online Library
Abstract Autism Spectrum Disorder (ASD) is a neurodevelopmental disease originating from
combined genetic and environmental factors. Post‐mortem human studies and some animal …

Autism and schizophrenia-associated CYFIP1 regulates the balance of synaptic excitation and inhibition

EC Davenport, BR Szulc, J Drew, J Taylor, T Morgan… - Cell reports, 2019 - cell.com
Altered excitatory/inhibitory (E/I) balance is implicated in neuropsychiatric and
neurodevelopmental disorders, but the underlying genetic etiology remains poorly …

Ptchd1 mediates opioid tolerance via cholesterol-dependent effects on μ-opioid receptor trafficking

N Maza, D Wang, C Kowalski, HM Stoveken… - Nature …, 2022 - nature.com
Repeated exposure to opioids causes tolerance, which limits their analgesic utility and
contributes to overdose and abuse liability. However, the molecular mechanisms …

[HTML][HTML] Synaptic dysfunction in human neurons with autism-associated deletions in PTCHD1-AS

PJ Ross, WB Zhang, RSF Mok, K Zaslavsky… - Biological …, 2020 - Elsevier
Abstract Background The Xp22. 11 locus that encompasses PTCHD1, DDX53, and the long
noncoding RNA PTCHD1-AS is frequently disrupted in male subjects with autism spectrum …

Single-cell quantification of mRNA expression in the human brain

S Jolly, V Lang, VH Koelzer, C Sala Frigerio… - Scientific reports, 2019 - nature.com
RNA analysis at the cellular resolution in the human brain is challenging. Here, we describe
an optimised approach for detecting single RNA transcripts in a cell-type specific manner in …

[HTML][HTML] Association of genes with phenotype in autism spectrum disorder

S Nisar, S Hashem, AA Bhat, N Syed, S Yadav… - Aging (albany …, 2019 - ncbi.nlm.nih.gov
Autism spectrum disorder (ASD) is a genetic heterogeneous neurodevelopmental disorder
that is characterized by impairments in social interaction and speech development and is …

PTCHD1: Identification and Neurodevelopmental Contributions of an Autism Spectrum Disorder and Intellectual Disability Susceptibility Gene

SF Pastore, SY Ko, PW Frankland, PA Hamel… - Genes, 2022 - mdpi.com
Over the last one and a half decades, copy number variation and whole-genome
sequencing studies have illuminated the considerable genetic heterogeneity that underlies …

Altered kynurenine pathway metabolites in a mouse model of human attention-deficit hyperactivity/autism spectrum disorders: A potential new biological diagnostic …

Y Murakami, Y Imamura, K Saito, D Sakai… - Scientific reports, 2019 - nature.com
Deleterious mutations in patchd1 domain containing 1 (PTCHD1) gene have been identified
in patients with intellectual disability and/or autism spectrum disorder (ASD). To clarify the …

Interferon-γ enhances neocortical synaptic inhibition by promoting membrane association and phosphorylation of GABAA receptors in a protein kinase C-dependent …

GMS Janach, M Böhm, N Döhne, HR Kim… - Brain, behavior, and …, 2022 - Elsevier
Abstract Interferon-γ (IFN-γ), an important mediator of the antiviral immune response, can
also act as a neuromodulator. CNS IFN-γ levels rise acutely in response to infection and …