[HTML][HTML] A cell-type-specific alternative splicing regulator shapes synapse properties in a trans-synaptic manner

L Traunmüller, J Schulz, R Ortiz, H Feng, E Furlanis… - Cell reports, 2023 - cell.com
The specification of synaptic properties is fundamental for the function of neuronal circuits."
Terminal selector" transcription factors coordinate terminal gene batteries that specify cell …

Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis

F Krach, EC Wheeler, M Regensburger… - Acta …, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by aberrant alternative
splicing (AS). Nuclear loss and cytoplasmic accumulation of the splicing factor TDP-43 in …

Alternative splicing events as peripheral biomarkers for motor learning deficit caused by adverse prenatal environments

DJ Dutta, J Sasaki, A Bansal, K Sugai… - Proceedings of the …, 2023 - National Acad Sciences
Severity of neurobehavioral deficits in children born from adverse pregnancies, such as
maternal alcohol consumption and diabetes, does not always correlate with the adversity's …

Unique transcriptomes of sensory and non-sensory neurons: insights from Splicing Regulatory States

L Ciampi, L Serrano, M Irimia - Molecular Systems Biology, 2024 - embopress.org
Alternative Splicing (AS) programs serve as instructive signals of cell type specificity,
particularly within the brain, which comprises dozens of molecularly and functionally distinct …

The role of the U5 snRNP in genetic disorders and cancer

KA Wood, MA Eadsforth, WG Newman… - Frontiers in …, 2021 - frontiersin.org
Pre-mRNA splicing is performed by the spliceosome, a dynamic macromolecular complex
consisting of five small uridine-rich ribonucleoprotein complexes (the U1, U2, U4, U5, and …

Developmental isoform diversity in the human neocortex informs neuropsychiatric risk mechanisms

A Patowary, P Zhang, C Jops, CK Vuong, X Ge, K Hou… - Science, 2024 - science.org
RNA splicing is highly prevalent in the brain and has strong links to neuropsychiatric
disorders; yet, the role of cell type–specific splicing and transcript-isoform diversity during …

Long read sequencing reveals novel isoforms and insights into splicing regulation during cell state changes

DJ Wright, NAL Hall, N Irish, AL Man, W Glynn, A Mould… - BMC genomics, 2022 - Springer
Background Alternative splicing is a key mechanism underlying cellular differentiation and a
driver of complexity in mammalian neuronal tissues. However, understanding of which …

Alternative splicing of neuronal genes: new mechanisms and new therapies

D Lipscombe, EJL Soto - Current opinion in neurobiology, 2019 - Elsevier
Highlights•Alternative splicing is dynamic and supports all stages of neuronal
function.•Studies reveal molecular mechanisms that direct cell-specific exon …

[HTML][HTML] Cross-ancestry, cell-type-informed atlas of gene, isoform, and splicing regulation in the developing human brain

C Wen, M Margolis, R Dai, P Zhang, PF Przytycki… - medRxiv, 2023 - ncbi.nlm.nih.gov
Genomic regulatory elements active in the developing human brain are notably enriched in
genetic risk for neuropsychiatric disorders, including autism spectrum disorder (ASD) …

[HTML][HTML] A matter of space and time: Emerging roles of disease-associated proteins in neural development

G Panagiotakos, SP Pasca - Neuron, 2022 - cell.com
Recent genetic studies of neurodevelopmental disorders point to synaptic proteins and ion
channels as key contributors to disease pathogenesis. Although many of these proteins …