Isoform cell-type specificity in the mouse primary motor cortex

AS Booeshaghi, Z Yao, C van Velthoven, K Smith… - Nature, 2021 - nature.com
Full-length SMART-seq single-cell RNA sequencing can be used to measure gene
expression at isoform resolution, making possible the identification of specific isoform …

Rbfox splicing factors promote neuronal maturation and axon initial segment assembly

M Jacko, SM Weyn-Vanhentenryck, JW Smerdon… - Neuron, 2018 - cell.com
Neuronal maturation requires dramatic morphological and functional changes, but the
molecular mechanisms governing this process are not well understood. Here, we studied …

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 …

[HTML][HTML] Pre-RNA splicing in metabolic homeostasis and liver disease

AM Jobbins, S Yu, HAB Paterson, H Maude… - Trends in Endocrinology …, 2023 - cell.com
The liver plays a key role in sensing nutritional and hormonal inputs to maintain metabolic
homeostasis. Recent studies into pre-mRNA splicing and alternative splicing (AS) and their …

FMRP regulates mRNAs encoding distinct functions in the cell body and dendrites of CA1 pyramidal neurons

CR Hale, K Sawicka, K Mora, JJ Fak, JJ Kang, P Cutrim… - Elife, 2021 - elifesciences.org
Neurons rely on translation of synaptic mRNAs in order to generate activity-dependent
changes in plasticity. Here, we develop a strategy combining compartment-specific …

Specialization of the photoreceptor transcriptome by Srrm3-dependent microexons is required for outer segment maintenance and vision

L Ciampi, F Mantica, L López-Blanch… - Proceedings of the …, 2022 - National Acad Sciences
Retinal photoreceptors have a distinct transcriptomic profile compared to other neuronal
subtypes, likely reflecting their unique cellular morphology and function in the detection of …

An integrated transcriptional analysis of the developing human retina

CB Mellough, R Bauer, J Collin, B Dorgau… - …, 2019 - journals.biologists.com
The scarcity of embryonic/foetal material as a resource for direct study means that there is
still limited understanding of human retina development. Here, we present an integrated …

Pre-mRNA splicing order is predetermined and maintains splicing fidelity across multi-intronic transcripts

K Choquet, AR Baxter-Koenigs, SL Dülk… - Nature Structural & …, 2023 - nature.com
Combinatorially, intron excision within a given nascent transcript could proceed down any of
thousands of paths, each of which would expose different dynamic landscapes of cis …

Concentration-dependent splicing is enabled by Rbfox motifs of intermediate affinity

BE Begg, M Jens, PY Wang, CM Minor… - Nature structural & …, 2020 - nature.com
The Rbfox family of splicing factors regulate alternative splicing during animal development
and in disease, impacting thousands of exons in the maturing brain, heart and muscle …

LAR receptor tyrosine phosphatase family in healthy and diseased brain

F Cornejo, BI Cortés, GM Findlay… - Frontiers in Cell and …, 2021 - frontiersin.org
Protein phosphatases are major regulators of signal transduction and they are involved in
key cellular mechanisms such as proliferation, differentiation, and cell survival. Here we …