[HTML][HTML] (Alternative) transcription start sites as regulators of RNA processing

C Alfonso-Gonzalez, V Hilgers - Trends in Cell Biology, 2024 - cell.com
Alternative transcription start site usage (ATSS) is a widespread regulatory strategy that
enables genes to choose between multiple genomic loci for initiating transcription. This …

Arc protein, a remnant of ancient retrovirus, forms virus-like particles, which are abundantly generated by neurons during epileptic seizures, and affects epileptic …

DA Sibarov, V Tsytsarev, A Volnova… - Frontiers in …, 2023 - frontiersin.org
A product of the immediate early gene Arc (Activity-regulated cytoskeleton-associated
protein or Arc protein) of retroviral ancestry resides in the genome of all tetrapods for millions …

Developmental exposure to a human-relevant polychlorinated biphenyl mixture causes behavioral phenotypes that vary by sex and genotype in juvenile mice …

S Sethi, KP Keil Stietz, AE Valenzuela… - Frontiers in …, 2021 - frontiersin.org
Polychlorinated biphenyls (PCBs) are putative environmental risks for neurodevelopmental
disorders. Here, we tested two hypotheses:(1) developmental exposure to a human-relevant …

Functional rescue in an Angelman syndrome model following treatment with lentivector transduced hematopoietic stem cells

A Adhikari, NA Copping, J Beegle… - Human molecular …, 2021 - academic.oup.com
Angelman syndrome (AS) is a rare neurodevelopmental disorder characterized by impaired
communication skills, ataxia, motor and balance deficits, intellectual disabilities, and …

Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency

A Adhikari, FKB Buchanan, TA Fenton… - Human molecular …, 2022 - academic.oup.com
Many neurodevelopmental disorders (NDDs) are the result of mutations on the X
chromosome. One severe NDD resulting from mutations on the X chromosome is CDKL5 …

Non‐coding regulatory elements: Potential roles in disease and the case of epilepsy

S Pagni, JD Mills, A Frankish, JM Mudge… - Neuropathology and …, 2022 - Wiley Online Library
Non‐coding DNA (ncDNA) refers to the portion of the genome that does not code for
proteins and accounts for the greatest physical proportion of the human genome. ncDNA …

Peptidomimetic inhibitors targeting TrkB/PSD-95 signaling improves cognition and seizure outcomes in an Angelman Syndrome mouse model

EZ Huie, X Yang, MS Rioult-Pedotti, K Tran… - …, 2024 - nature.com
Angelman syndrome (AS) is a rare genetic neurodevelopmental disorder with profoundly
debilitating symptoms with no FDA-approved cure or therapeutic. Brain-derived neurotrophic …

Hyperexcitability and translational phenotypes in a preclinical mouse model of SYNGAP1-related intellectual disability

TA Fenton, OY Haouchine, EB Hallam… - Translational …, 2024 - nature.com
Disruption of SYNGAP1 directly causes a genetically identifiable neurodevelopmental
disorder (NDD) called SYNGAP1-related intellectual disability (SRID). Without functional …

CRISPR/dCas9 as a therapeutic approach for neurodevelopmental disorders: innovations and limitations compared to traditional strategies

R Ricci, G Colasante - Developmental Neuroscience, 2021 - karger.com
Brain development is a complex process that requires a series of precise and coordinated
events to take place. When alterations in some of those events occur, neurodevelopmental …

Genome-wide meta-analysis identifies two novel risk loci for epilepsy

M Song, J Liu, Y Yang, L Lv, W Li, XJ Luo - Frontiers in Neuroscience, 2021 - frontiersin.org
Epilepsy (affects about 70 million people worldwide) is one of the most prevalent brain
disorders and imposes a huge economic burden on society. Epilepsy has a strong genetic …