Cell-type-specificity of isoform diversity in the developing human neocortex informs mechanisms of neurodevelopmental disorders

A Patowary, P Zhang, C Jops, CK Vuong, X Ge, K Hou… - bioRxiv, 2023 - biorxiv.org
Human brain development is under tight molecular genetic control and the recent advent of
single-cell genomics has revolutionized our ability to elucidate the diverse underlying cell …

[HTML][HTML] Lineage-specific splicing regulation of MAPT gene in the primate brain

Y Recinos, S Bao, X Wang, BL Phillips, YT Yeh… - Cell Genomics, 2024 - cell.com
Divergence of precursor messenger RNA (pre-mRNA) alternative splicing (AS) is
widespread in mammals, including primates, but the underlying mechanisms and functional …

[HTML][HTML] Alternative splicing at neuroligin site A regulates glycan interaction and synaptogenic activity

S Oku, H Feng, S Connor, A Toledo, P Zhang, Y Zhang… - Elife, 2020 - elifesciences.org
Post-transcriptional mechanisms regulating cell surface synaptic organizing complexes that
control the properties of connections in brain circuits are poorly understood. Alternative …

[HTML][HTML] Do Fragile X Syndrome and other intellectual disorders converge at aberrant pre-mRNA splicing?

S Shah, JD Richter - Frontiers in Psychiatry, 2021 - frontiersin.org
Fragile X Syndrome is a neuro-developmental disorder caused by the silencing of the FMR1
gene, resulting in the loss of its protein product, FMRP. FMRP binds mRNA and represses …

[HTML][HTML] Prediction of genetic alteration of phospholipase C isozymes in brain disorders: Studies with deep learning

JY Joo, KH Lim, S Yang, SH Kim, L Cocco… - Advances in Biological …, 2021 - Elsevier
Genetic mutations leading to the development of various diseases, such as cancer,
diabetes, and neurodegenerative disorders, can be attributed to multiple mechanisms and …

In the developing cerebral cortex: axonogenesis, synapse formation, and synaptic plasticity are regulated by SATB2 target genes

Q Guo, Y Wang, Q Wang, Y Qian, Y Jiang, X Dong… - Pediatric …, 2023 - nature.com
Background Special AT-rich sequence-binding protein 2 is essential for the development of
cerebral cortex and key molecular node for the establishment of proper neural circuitry and …

Altered behavioral responses show GABA sensitivity in muscleblind-like 2-deficient mice: Implications for CNS symptoms in myotonic dystrophy

KS Edokpolor, A Banerjee, ZT McEachin, J Gu, A Kosti… - Eneuro, 2022 - eneuro.org
Considerable evidence from mouse models and human postmortem brain suggests loss of
Muscleblind-like protein 2 (MBNL2) function in brain is a major driver of CNS symptoms in …

Molecular dissection of CHARGE syndrome highlights the vulnerability of neural crest cells to problems with alternative splicing and other transcription-related …

FA Bérubé-Simard, N Pilon - Transcription, 2019 - Taylor & Francis
ABSTRACT CHARGE syndrome is characterized by co-occurrence of multiple
malformations due to abnormal development of neural crest cells. Here, we review the …

[HTML][HTML] Multi-dimensional transcriptome analysis reveals modulation of cholesterol metabolism as highly integrated response to brain injury

V Gourain, O Armant, L Lübke, N Diotel… - Frontiers in …, 2021 - frontiersin.org
Zebrafish is an attractive model to investigate regeneration of the nervous system. Despite
major progress in our understanding of the underlying processes, the transcriptomic …

[HTML][HTML] Genome-wide identification of associations between enhancer and alternative splicing in human and mouse

CK Shiau, JH Huang, YT Liu, HK Tsai - BMC genomics, 2022 - Springer
Background Alternative splicing (AS) increases the diversity of transcriptome and could fine-
tune the function of genes, so that understanding the regulation of AS is vital. AS could be …