[HTML][HTML] A cell-type-specific alternative splicing regulator shapes synapse properties in a trans-synaptic manner
The specification of synaptic properties is fundamental for the function of neuronal circuits."
Terminal selector" transcription factors coordinate terminal gene batteries that specify cell …
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 …
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 …
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 …
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 …
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
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 …
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
Background Alternative splicing is a key mechanism underlying cellular differentiation and a
driver of complexity in mammalian neuronal tissues. However, understanding of which …
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 …
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
Genomic regulatory elements active in the developing human brain are notably enriched in
genetic risk for neuropsychiatric disorders, including autism spectrum disorder (ASD) …
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 …
channels as key contributors to disease pathogenesis. Although many of these proteins …