Roles of lncRNAs in brain development and pathogenesis: emerging therapeutic opportunities

T Srinivas, C Mathias, C Oliveira-Mateos, S Guil - Molecular Therapy, 2023 - cell.com
The human genome is pervasively transcribed, producing a majority of short and long
noncoding RNAs (lncRNAs) that can influence cellular programs through a variety of …

Focus on your locus with a massively parallel reporter assay

JC McAfee, JL Bell, O Krupa, N Matoba… - Journal of …, 2022 - Springer
A growing number of variants associated with risk for neurodevelopmental disorders have
been identified by genome-wide association and whole genome sequencing studies. As …

Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study

M Abdi, E Aliyev, B Trost, M Kohailan, W Aamer… - Genome Medicine, 2023 - Springer
Background Autism spectrum disorder (ASD) is a neurodevelopmental condition
characterized by impaired social and communication skills, restricted interests, and …

Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk

T Shin, JHT Song, M Kosicki, C Kenny, SG Beck… - Cell Genomics, 2024 - cell.com
Little is known about the role of non-coding regions in the etiology of autism spectrum
disorder (ASD). We examined three classes of non-coding regions: human accelerated …

[HTML][HTML] The non-coding genome in Autism Spectrum Disorders

S Dominguez-Alonso, A Carracedo… - European Journal of …, 2023 - Elsevier
Abstract Autism Spectrum Disorders (ASD) are a group of neurodevelopmental disorders
(NDDs) characterized by difficulties in social interaction and communication, repetitive …

The autism-associated loss of δ-catenin functions disrupts social behavior

H Mendez-Vazquez, RL Roach, K Nip… - Proceedings of the …, 2023 - National Acad Sciences
δ-catenin is expressed in excitatory synapses and functions as an anchor for the
glutamatergic AMPA receptor (AMPAR) GluA2 subunit in the postsynaptic density. The …

Lactobacillus reuteri normalizes altered fear memory in male Cntnap4 knockout mice

W Zhang, J Huang, F Gao, Q You, L Ding, J Gong… - …, 2022 - thelancet.com
Background Autism spectrum disorder (ASD) is a common neurodevelopmental disease,
characterized by deficits in social communication, restricted and repetitive behaviours, and …

KMT2C knockout generates ASD-like behaviors in mice

B Brauer, N Merino-Veliz… - Frontiers in Cell and …, 2023 - frontiersin.org
Neurodevelopmental disorders have been associated with genetic mutations that affect
cellular function, including chromatin regulation and epigenetic modifications. Recent …

Loss of ctnnd2b affects neuronal differentiation and behavior in zebrafish

R Vaz, S Edwards, A Dueñas-Rey… - Frontiers in …, 2023 - frontiersin.org
Delta-catenin (CTNND2) is an adhesive junction associated protein belonging to the family
of p120 catenins. The human gene is located on the short arm of chromosome 5, the region …

βIV spectrin abundancy, cellular distribution and sensitivity to AKT/GSK3 regulation in schizophrenia

J Di Re, M Marini, SI Hussain, AK Singh… - Molecular …, 2025 - nature.com
Schizophrenia (SCZ) is a complex psychiatric disorder with unclear biological mechanisms.
Spectrins, cytoskeletal proteins linked to neurodevelopmental disorders, are regulated by …