Tag: Synapse

Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains

Faraone, S. V. et al. Attention-deficit/hyperactivity disorder. Nat. Rev. Dis. Prim. 1, 15020 (2015). Article  Google Scholar  Franke, B. et al. The genetics of attention deficit/hyperactivity disorder in adults, a review. Mol. Psychiatry 17, 960–987 (2012). Article  CAS  Google Scholar  Dalsgaard, S., Leckman, J. F., Mortensen, P. B., Nielsen, H….

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Multi-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing

Method overview For all presentations, we call the genetic effects on GWAS phenotypes ‘phenotypic effects’ and the effect of gene expression the ‘eQTL effect’. TWAS was originally developed to integrate eQTL and GWAS datasets derived from matched ancestries5. Specifically, it first builds gene expression prediction models using eQTL datasets that…

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Drugs to Treat Smoking Addiction Suggested by Multi-Ancestry Transcriptome-Wide Association Study

NEW YORK — Researchers have developed a new approach for transcriptome-wide association analyses that incorporates multi-ancestry data, which they applied to uncover additional genes associated with smoking-related behaviors and suggest new drugs to treat smoking addiction. Transcriptome-wide association studies (TWAS) generally rely on genome-wide association studies and expression quantitative trait…

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Study shows cutaneous touch neuronal cells to be critical for sexual receptiveness

In a recent study published in Cell, researchers studied the social relevance of G protein-coupled receptor (GPCR) Mrgprb4-lineage touch neurons in sexual touch and receptivity. Study: Touch neurons underlying dopaminergic pleasurable touch and sexual receptivity. Image Credit: Master1305/Shutterstock Background The sensation of a pleasurable touch is initiated by mechanical, electric…

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2022, a Year in Review

15 Jan 2023 Part 1 of 2The year 2022 was a turning point in Alzheimer’s research. It began with the Aduhelm debacle fresh on people’s mind. It ended with reassurance that amyloid removal indeed helps people with the disease, when lecanemab’s Phase 3 data showed a slowing of cognitive decline….

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The cytoplasmic localization of ADNP through 14-3-3 promotes sex-dependent neuronal morphogenesis, cortical connectivity, and calcium signaling

Reese D, Drapeau P. Neurite growth patterns leading to functional synapses in an identified embryonic neuron. J Neurosci: Off J Soc Neurosci. 1998;18:5652–62. Article  CAS  Google Scholar  Yi G, Wang J, Wei X, Deng B. Dendritic properties control energy efficiency of action potentials in cortical pyramidal cells. Front Cell Neurosci….

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Changes in Protein Structure May Act as Parkinson’s Biomarkers | Potential for Easier Diagnosis in Analysis of Protein Shape

Changes in the structure of 76 proteins in the cerebrospinal fluid (CSF) of people with Parkinson’s disease were seen when compared with those of healthy individuals, a study reported. Its researchers believe their work is the first to look at protein structure — rather than abundance — to identify potential new…

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Integrative cross-species analysis of GABAergic neuron cell types and their functions in Alzheimer’s disease

The heterogeneity of GABAergic neurons in human, macaque, mouse, and pig To perform a cross-species comparative study of the GABAergic neurons, we collected the snRNA-seq datasets of the cerebral cortex for human10,11, macaque12,13, mouse14,15, and pig16. After cell-type annotation and filtering out the excitatory neurons and non-neurons, the GABAergic neurons…

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Leptin receptor co-expression gene network moderates the effect of early life adversity on eating behavior in children

Gillespie, C. F., Phifer, J., Bradley, B. & Ressler, K. J. Risk and resilience: genetic and environmental influences on development of the stress response. Depress Anxiety 26, 984–992 (2009). CAS  PubMed  PubMed Central  Article  Google Scholar  Silveira, P. P. et al. Cumulative prenatal exposure to adversity reveals associations with a…

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Population-level variation in enhancer expression identifies disease mechanisms in the human brain

Schizophrenia Working Group of the Psychiatric Genomics Consortium. Biological insights from 108 schizophrenia-associated genetic loci. Nature 511, 421–427 (2014). PubMed Central  Article  CAS  Google Scholar  Visscher, P. M. et al. 10 years of GWAS discovery: biology, function, and translation. Am. J. Hum. Genet. 101, 5–22 (2017). CAS  PubMed  PubMed Central …

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LncRNA Sequencing Helps to Find Deep Links to Disease

Long non-coding RNAs (lncRNAs) are a class of RNAs that do not code for proteins and are typically greater than 200 nucleotides in length. Studies have shown that lncRNAs are quite complex in function and play an important role in various biological processes such as development, differentiation, proliferation, metastasis, apoptosis,…

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Does Norepinephrine Metabolite DOPEGAL Turn Tau Toxic?

08 Apr 2022 What makes tau toxic? In the March 24 Nature Structural & Molecular Biology, researchers led by Keqiang Ye at Shenzhen Institute of Advanced Technology, China, suggest a new culprit, a norepinephrine metabolite known as DOPEGAL, which is produced only in the locus coeruleus (LC). The authors found…

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Function of SYDE C2-RhoGAP family as signaling hubs for neuronal development deduced by computational analysis

Hallam, S. J., Goncharov, A., McEwen, J., Baran, R. & Jin, Y. Syd-1, a presynaptic protein with PDZ, C2 and rhoGAP-like domains specifies axon identity in C. elegans. Nat. Neurosci. 5, 1137–1146 (2002). CAS  PubMed  Google Scholar  Xu, Y. & Quinn, C. C. SYD-1 promotes multiple developmental steps leading to…

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Workflow Platforms for Systems Genetics

Workflow Platforms for Systems Genetics eQTL Platforms eQTL Viewer Mouse Genome Informatics: Phenotypes, Alleles & Disease Models PhenoGen Informatics (CO U) eXtensible Genotype And Phenotype platform (XGAP) MOLGENIS & MetaNetwork, Swertz & Jansen, U Groningen Weighted Gene Co-expression Network Analysis (WGCNA), Horvath, UCLA iPlant Sage Bionetworks Repository: Synapse GenomeSpace Institute…

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Drosophila carrying epilepsy-associated variants in the vitamin B6 metabolism gene PNPO display allele- and diet-dependent phenotypes

Pyridox(am)ine 5′-phosphate oxidase (PNPO; Enzyme Commission Number 1.4.3.5) is a rate-limiting enzyme in the synthesis of vitamin B6 (VB6) (1). Mutations in PNPO can cause neonatal epileptic encephalopathy, a devastating disease that usually leads to death if untreated (2). Recently, PNPO mutations have also been reported in patients with infantile…

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Defects in 8-oxo-guanine repair pathway cause high frequency of C > A substitutions in neuroblastoma

Significance The collection of large amounts of whole-genome sequencing data allowed for identification of mutational signatures, which are characteristic combinations of substitutions in the context of neighboring bases. The clinical significance of these mutational signatures is still largely unknown. In neuroblastoma, we showed that high levels of cytosine > adenine…

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