[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 …
(RTT), a rare neurodevelopmental disorder with a notable period of developmental …
Transcription and splicing: A two‐way street
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 …
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
Autism spectrum disorder (ASD) manifests as alterations in complex human behaviors
including social communication and stereotypies. In addition to genetic risks, the gut …
including social communication and stereotypies. In addition to genetic risks, the gut …
[HTML][HTML] Alternative splicing during mammalian organ development
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 …
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
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) …
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
Frontotemporal dementia (FTD) because of MAPT mutation causes pathological
accumulation of tau and glutamatergic cortical neuronal death by unknown mechanisms. We …
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 …
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 …
have unique anatomical and functional properties instructed by molecular programs …
[PDF][PDF] Systematic exploration of dynamic splicing networks reveals conserved multistage regulators of neurogenesis
Alternative splicing (AS) is a critical regulatory layer; yet, factors controlling functionally
coordinated splicing programs during developmental transitions are poorly understood …
coordinated splicing programs during developmental transitions are poorly understood …
Cross-ancestry atlas of gene, isoform, and splicing regulation in the developing human brain
Neuropsychiatric genome-wide association studies (GWASs), including those for autism
spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the …
spectrum disorder and schizophrenia, show strong enrichment for regulatory elements in the …