[HTML][HTML] MeCP2: the genetic driver of Rett syndrome epigenetics

KV Good, JB Vincent, J Ausió - Frontiers in Genetics, 2021 - frontiersin.org
Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome
(RTT), a rare neurodevelopmental disorder with a notable period of developmental …

Transcription and splicing: A two‐way street

M Tellier, I Maudlin, S Murphy - Wiley Interdisciplinary Reviews …, 2020 - Wiley Online Library
RNA synthesis by RNA polymerase II and RNA processing are closely coupled during the
transcription cycle of protein‐coding genes. This coupling affords opportunities for quality …

[PDF][PDF] Human gut microbiota from autism spectrum disorder promote behavioral symptoms in mice

G Sharon, NJ Cruz, DW Kang, MJ Gandal, B Wang… - Cell, 2019 - cell.com
Autism spectrum disorder (ASD) manifests as alterations in complex human behaviors
including social communication and stereotypies. In addition to genetic risks, the gut …

[HTML][HTML] Alternative splicing during mammalian organ development

PV Mazin, P Khaitovich, M Cardoso-Moreira… - Nature …, 2021 - nature.com
Alternative splicing (AS) is pervasive in mammalian genomes, yet cross-species
comparisons have been largely restricted to adult tissues and the functionality of most AS …

[HTML][HTML] A spatially resolved brain region-and cell type-specific isoform atlas of the postnatal mouse brain

A Joglekar, A Prjibelski, A Mahfouz, P Collier… - Nature …, 2021 - nature.com
Splicing varies across brain regions, but the single-cell resolution of regional variation is
unclear. We present a single-cell investigation of differential isoform expression (DIE) …

[PDF][PDF] ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids

KR Bowles, MC Silva, K Whitney, T Bertucci, JE Berlind… - Cell, 2021 - cell.com
Frontotemporal dementia (FTD) because of MAPT mutation causes pathological
accumulation of tau and glutamatergic cortical neuronal death by unknown mechanisms. We …

[HTML][HTML] Mapping PTBP2 binding in human brain identifies SYNGAP1 as a target for therapeutic splice switching

JM Dawicki-McKenna, AJ Felix, EA Waxman… - Nature …, 2023 - nature.com
Alternative splicing of neuronal genes is controlled partly by the coordinated action of
polypyrimidine tract binding proteins (PTBPs). While PTBP1 is ubiquitously expressed …

Landscape of ribosome-engaged transcript isoforms reveals extensive neuronal-cell-class-specific alternative splicing programs

E Furlanis, L Traunmüller, G Fucile, P Scheiffele - Nature neuroscience, 2019 - nature.com
Nervous system function relies on complex assemblies of distinct neuronal cell types that
have unique anatomical and functional properties instructed by molecular programs …

[PDF][PDF] Systematic exploration of dynamic splicing networks reveals conserved multistage regulators of neurogenesis

H Han, AJ Best, U Braunschweig, N Mikolajewicz, JD Li… - Molecular cell, 2022 - cell.com
Alternative splicing (AS) is a critical regulatory layer; yet, factors controlling functionally
coordinated splicing programs during developmental transitions are poorly understood …

Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain

C Wen, M Margolis, R Dai, P Zhang, PF Przytycki… - Science, 2024 - science.org
Neuropsychiatric genome-wide association studies (GWASs), including those for autism
spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the …