Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes

A Noor, AC Lionel, S Cohen‐Woods… - American Journal of …, 2014 - Wiley Online Library
… 15q13.3 overlapping the CHRNA7 locus were identified in eight … duplication within the autism
susceptibility locus at 16p11.2 … We identified several additional CNVs of biological interest …

Identification of novel genomic risk loci shared between common epilepsies and psychiatric disorders

N Karadag, AA Shadrin, KS O'Connell, GFL Hindley… - Brain, 2023 - academic.oup.com
… between schizophrenia and genetic generalized epilepsy implicated biological processes …
, such as perturbed calcium signalling, synaptic plasticity and neurotransmission. Uncovering …

The synapse in schizophrenia

AJ Pocklington, M O'Donovan… - European Journal of …, 2014 - Wiley Online Library
Synaptic genes intersecting CNV regions were identified … of know schizophrenia loci, and
a number of synaptic genes … biology, and further molecular dissection of synaptic signalling …

UNC-11, a Caenorhabditis elegans AP180 Homologue, Regulates the Size and Protein Composition of Synaptic Vesicles

ML Nonet, AM Holgado, F Brewer… - … biology of the cell, 1999 - Am Soc Cell Biol
… Finally, inunc-11 mutants, synaptic membrane still undergoes … of synaptic vesicles: to
recruit synaptobrevin to synaptic vesicle … We demonstrated that the unc-11 locus of C. elegans …

Genome-wide survival study identifies a novel synaptic locus and polygenic score for cognitive progression in Parkinson's disease

G Liu, J Peng, Z Liao, JJ Locascio, JC Corvol, F Zhu… - Nature …, 2021 - nature.com
… This study identifies a novel synaptic locus and polygenic score for cognitive disease
progression in PD and proposes diverging genetic architectures of progression and susceptibility. …

Polygenic risk for schizophrenia converges on alternative polyadenylation as molecular mechanism underlying synaptic impairment

FJ Raabe, A Hausruckinger, M Gagliardi, R Ahmad… - bioRxiv, 2024 - biorxiv.org
… based on the biological role of the genes within these risk 75 loci implicated synapse, immune
… changes in APA for synapse biology, we 275 measured synapse density by high content …

[HTML][HTML] Epigenomic analysis of Alzheimer's disease brains reveals diminished CTCF binding on genes involved in synaptic organization

PJ Patel, Y Ren, Z Yan - Neurobiology of disease, 2023 - Elsevier
Synaptic enrichment analyses identified synaptic organization, transport and signaling as
the most enriched biological … chromatin structure at specific genomic loci, causing the altered …

[PDF][PDF] Large-scale cognitive GWAS meta-analysis reveals tissue-specific neural expression and potential nootropic drug targets

M Lam, JW Trampush, J Yu, E Knowles, G Davies… - Cell reports, 2017 - cell.com
… We identified 70 independent genomic loci associated with … derive specific biological insights
from the broad association loci … While synaptic mechanisms were strongly implicated by our …

Amygdala and anterior cingulate transcriptomes from individuals with bipolar disorder reveal downregulated neuroimmune and synaptic pathways

PP Zandi, AE Jaffe, FS Goes, EE Burke… - Nature …, 2022 - nature.com
… on biological processes linked with synaptic signaling and … synaptic membrane. We further
found that approximately 34% of loci reported by PGC-BD2, including over 50% of genome-…

Multiple genes in cis mediate the effects of a single chromatin accessibility variant on aberrant synaptic development and function in human neurons

S Zhang, H Zhang, MP Forrest, Y Zhou, VA Bagchi… - bioRxiv, 2021 - biorxiv.org
… in 26 schizophrenia (SZ) risk loci that displayed allele-specific … increased dendritic complexity,
synaptic puncta density, and … at a single SZ locus on synaptic development and function, …