An atlas of expressed transcripts in the prenatal and postnatal human cortex

R Bamford, SK Leung, VK Chundru, AR Jeffries… - bioRxiv, 2024 - biorxiv.org
Alternative splicing is a post-transcriptional mechanism that increases the diversity of
expressed transcripts and plays an important role in regulating gene expression in the …

Transcriptomic and epigenomic consequences of heterozygous loss of function mutations in AKAP11, the first large-effect shared risk gene for bipolar disorder and …

N Farhangdoost, C Liao, Y Liu, M Alda, PA Dion… - bioRxiv, 2024 - biorxiv.org
The gene A-kinase anchoring protein 11 (AKAP11) recently emerged as a shared risk factor
between bipolar disorder and schizophrenia, driven by large-effect loss-of-function (LoF) …

[HTML][HTML] The autism risk factor CHD8 is a chromatin activator in human neurons and functionally dependent on the ERK-MAPK pathway effector ELK1

B Haddad Derafshi, T Danko, S Chanda, PJ Batista… - Scientific Reports, 2022 - nature.com
The chromodomain helicase DNA-binding protein CHD8 is the most frequently mutated
gene in autism spectrum disorder. Despite its prominent disease involvement, little is known …

Dynamic subtype-and context-specific subcellular RNA regulation in growth cones of neocortical projection neurons

P Veeraraghavan, AK Engmann, JJ Hatch, Y Itoh… - bioRxiv, 2023 - biorxiv.org
Long range projection neurons of the cerebral cortex provide multimodal integration via
connectivity between distant areas of the brain, thus are critical for sensory integration, motor …

The landscape of gene loss and missense variation across the mammalian tree informs on gene essentiality

C Liao, R Ye, F Ivankovic, J Fu, RK Walters, C Lowther… - bioRxiv, 2024 - biorxiv.org
Background: The degree of gene and sequence preservation across species provides
valuable insights into the relative necessity of genes from the perspective of natural …

Genomics of psychiatric disorders

N Ryan, C Ormond, P Brady, E Heron… - Neurogenetics for the …, 2024 - Elsevier
The past years have been an incredibly exciting time in the field of psychiatric genetics.
Technological and methodological advances, coupled with significant increases in sample …

Integrated proteomics reveals the landscape of autophagy degradation in human neurons and autophagy receptors regulating neuronal activity

X Zhou, YK Lee, X Li, H Kim, C Sanchez-Priego, X Han… - bioRxiv, 2022 - biorxiv.org
Autophagy is a catabolic and self-degradative process crucial for maintaining cellular
homeostasis. Malfunctional autophagy is implicated in neurodevelopmental and …

Landscape of Intrinsically Disordered Proteins in Mental Disorder Diseases

X Zhang, Y Yang, G Hu, R Liu, N Zhou, X Song… - 2024 - preprints.org
Abstract Intrinsically Disordered Proteins (IDPs) play crucial roles in signal transduction, cell
differentiation, and transcriptional regulation. Many disrupted genes associated with mental …

[PDF][PDF] Altered neuroepithelial morphogenesis and migration defects in iPSC-derived cerebral organoids and 2D neural stem cells in familial bipolar disorder

SS Mishra, SK Dhanya, P Paul, B Holla, S Ganesh… - 2024 - researchgate.net
Bipolar disorder (BD) is a severe mental illness that can result from neurodevelopmental
aberrations, particularly in familial BD, which may include causative genetic variants. In the …

De novo mutations in bipolar disorder implicate neurodevelopment, immunity, and synaptic signaling

T Shimada, R Smith, H Sung, E Besancon, F Lopez… - 2023 - researchsquare.com
Bipolar disorder (BD) is a debilitating disorder affecting~ 1% of the world's population.
Although many common and some rare alleles are associated with this complex disorder …