Integrated proteomics reveals autophagy landscape and an autophagy receptor controlling PKA-RI complex homeostasis in neurons

X Zhou, YK Lee, X Li, H Kim, C Sanchez-Priego… - Nature …, 2024 - nature.com
Autophagy is a conserved, catabolic process essential for maintaining cellular homeostasis.
Malfunctional autophagy contributes to neurodevelopmental and neurodegenerative …

Genetic inhibition of angiopoietin-like protein-3, lipids, and cardiometabolic risk

É Gobeil, J Bourgault, PL Mitchell… - European Heart …, 2024 - academic.oup.com
Background and Aims RNA-based, antibody-based, and genome editing-based therapies
are currently under investigation to determine if the inhibition of angiopoietin-like protein-3 …

Genetic and functional analyses implicate microRNA 499A in bipolar disorder development

A Tielke, H Martins, MA Pelzl, A Maaser-Hecker… - Translational …, 2022 - nature.com
Bipolar disorder (BD) is a complex mood disorder with a strong genetic component. Recent
studies suggest that microRNAs contribute to psychiatric disorder development. In BD …

Whole-exome sequencing in UK Biobank reveals rare genetic architecture for depression

R Tian, T Ge, H Kweon, DB Rocha, M Lam… - Nature …, 2024 - nature.com
Nearly two hundred common-variant depression risk loci have been identified by genome-
wide association studies (GWAS). However, the impact of rare coding variants on …

Examining the source of increased bipolar disorder and major depressive disorder common risk variation burden in multiplex schizophrenia families

M Ahangari, R Kirkpatrick, TH Nguyen, N Gillespie… - Schizophrenia, 2022 - nature.com
Psychotic and affective disorders often aggregate in the relatives of probands with
schizophrenia, and genetic studies show substantial genetic correlation among …

Large-scale whole-exome sequencing of neuropsychiatric diseases and traits in 350,770 adults

YT Deng, BS Wu, L Yang, XY He, JJ Kang… - Nature Human …, 2024 - nature.com
While numerous genomic loci have been identified for neuropsychiatric conditions, the
contribution of protein-coding variants has yet to be determined. Here we conducted a large …

[HTML][HTML] Cross-ancestry, cell-type-informed atlas of gene, isoform, and splicing regulation in the developing human brain

C Wen, M Margolis, R Dai, P Zhang, PF Przytycki… - medRxiv, 2023 - ncbi.nlm.nih.gov
Genomic regulatory elements active in the developing human brain are notably enriched in
genetic risk for neuropsychiatric disorders, including autism spectrum disorder (ASD) …

[HTML][HTML] Using deep long-read RNAseq in Alzheimer's disease brain to assess medical relevance of RNA isoform diversity

BA Heberle, JA Brandon, ML Page, KA Nations… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Due to alternative splicing, human protein-coding genes average over eight RNA isoforms,
resulting in nearly four distinct protein coding sequences per gene. Long-read RNAseq …

Genetics of bipolar disorder: insights into its complex architecture and biology from common and rare variants

T Hara, Y Owada, A Takata - Journal of Human Genetics, 2023 - nature.com
Bipolar disorder (BD) is a common mental disorder characterized by recurrent mood
episodes, which causes major socioeconomic burdens globally. Though its disease …

Bipolar patients display stoichiometric imbalance of gene expression in post-mortem brain samples

A Holmgren, I Akkouh, KS O'Connell, JR Osete… - Molecular …, 2024 - nature.com
Bipolar disorder is a severe neuro-psychiatric condition where genome-wide association
and sequencing studies have pointed to dysregulated gene expression as likely to be …