Cell-type-specificity of isoform diversity in the developing human neocortex informs mechanisms of neurodevelopmental disorders
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 …
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 …
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
Post-transcriptional mechanisms regulating cell surface synaptic organizing complexes that
control the properties of connections in brain circuits are poorly understood. Alternative …
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 …
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 …
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
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 …
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 …
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 …
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
Zebrafish is an attractive model to investigate regeneration of the nervous system. Despite
major progress in our understanding of the underlying processes, the transcriptomic …
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
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 …
tune the function of genes, so that understanding the regulation of AS is vital. AS could be …