Categories
Tag: Synapse
Unravelling cell type-specific responses to Parkinson’s Disease at single cell resolution | Molecular Neurodegeneration
Single nucleus RNA-seq reveals cell type heterogeneity in human SNpc We sampled SNpc from post-mortem human brains of 15 sporadic Parkinson’s disease (PD) patients and 14 Control individuals (see Supplementary Table 1 for full pathology reports). Using a 10X Genomics Chromium platform, we performed single nucleus RNA-seq (snRNA-seq) on more than…
Top 20 Hadoop Competitors and Alternatives
Hadoop is an open-source big data analytics platform headquartered in Baltimore, Maryland. The solution evolved from the Google File System paper published by Doug Cutting and Mike Cafarella in October 2003 as part of the Apache Nutch project. The co-founders moved the platform to the Hadoop subproject in 2006. In…
Behind the exoneration of Australian woman convicted of killing her children
On December 14, Kathleen Folbigg’s 2003 convictions for murder of three of her infant children and manslaughter of the fourth was quashed by the New South Wales Court of Criminal Appeal in light of the Report of the 2022 Inquiry into the convictions of Kathleen Megan Folbigg delivered in November…
AI Is Pushing Science Into an Age of Uncertainty
This summer, a pill intended to treat a chronic, incurable lung disease entered mid-phase human trials. Previous studies have demonstrated that the drug is safe to swallow, although whether it will improve symptoms of the painful fibrosis that it targets remains unknown; this is what the current trial will determine,…
Functions Support the New RNA Gene Paradigm
Photo credit: THAVIS 3D via Unsplash. In recent days I have covered a new paper published in BioEssays by Australian molecular biologist John Mattick who cites the need for a “paradigm shift” in biology away from the concept of junk DNA (see here, here, and here). I recounted how this shift is being driven by…
King’s College, Bit.bio Partner for Advanced Brain Cell Models
bit.bio, the company coding human cells for novel cures, and the Institute of Psychiatry, Psychology & Neuroscience today announce a collaboration to build multi-cell models of the human brain using bit.bio’s ioCells™️. Professor Deepak Srivastava and Dr Anthony Vernon Professor Deepak Srivastava and Dr Anthony Vernon will create different bi-…
Blockade of mGluR5 in astrocytes derived from human iPSCs modulates astrocytic function and increases phagocytosis
1Federal University of Minas Gerais, Brazil The final, formatted version of the article will be published soon. Notify me Receive an email when it is updated You just subscribed to receive the final version of the article TNF-α is essential for induction and…
The effects of methylphenidate and atomoxetine on Drosophila brain at single-cell resolution and potential drug repurposing for ADHD treatment
Both MPH and ATX increase the locomotor activity of wild-type Drosophila To investigate the cell type-specific molecular mechanisms of ADHD drugs in the brain at single-cell resolution, we conducted behavioral experiments and scRNASEQ in wild-type (WT) adult male Drosophila melanogaster following exposure to MPH, ATX, and control treatment. Here, we…
Inflammation In The Brain Linked To Aging And Cognitive Decline
Neurons and Microglia – 3d rendered image of Neuron cell network on black background. Microglial … [+] cells are the most prominent immune cells of the central nervous system (CNS). Hologram view interconnected neurons cells with electrical pulses. Conceptual medical image. Glowing synapse. Healthcare concept. getty This article is part…
Genome-wide meta-analysis, functional genomics and integrative analyses implicate new risk genes and therapeutic targets for anxiety disorders
Kessler, R. C. et al. Lifetime prevalence and age-of-onset distributions of DSM-IV disorders in the National Comorbidity Survey Replication. Arch. Gen. Psychiatry 62, 593–602 (2005). Article PubMed Google Scholar Kessler, R. C. et al. Prevalence, persistence, and sociodemographic correlates of DSM-IV disorders in the National Comorbidity Survey Replication Adolescent Supplement….
Mechanism and therapeutic potential of targeting cGAS-STING signaling in neurological disorders | Molecular Neurodegeneration
Hemmi H, et al. A toll-like receptor recognizes bacterial DNA. Nature. 2000;408(6813):740–5. Article CAS PubMed Google Scholar Unterholzner L, et al. IFI16 is an innate immune sensor for intracellular DNA. Nat Immunol. 2010;11(11):997–1004. Article CAS PubMed PubMed Central Google Scholar Chiu YH, Macmillan JB, Chen ZJ. RNA polymerase III detects…
When Glia Meet Induced Pluripotent Stem Cells (iPSCs)
Abstract The importance of glial cells, mainly astrocytes, oligodendrocytes, and microglia, in the central nervous system (CNS) has been increasingly appreciated. Recent advances have demonstrated the diversity of glial cells and their contribution to human CNS development, normal CNS functions, and disease progression. The uniqueness of human glial cells is…
PDZD8 promotes autophagy at ER-Lysosome contact sites to regulate synaptogenesis
Abstract Building synaptic connections, which are often far from the soma, requires coordinating a host of cellular activities from transcription to protein turnover, placing a high demand on intracellular communication. Membrane contact sites (MCSs) formed between cellular organelles have emerged as key signaling hubs for coordinating an array of cellular…
Diet-induced rewiring of the Wnt gene regulatory network connects aberrant splicing to fatty liver and liver cancer in DIAMOND mice
DIAMOND mice develop HCC in the context of obesity and insulin resistance To investigate in depth the genome-wide transcriptional and epigenetic changes that occur during development of MAFLD and obesity-related hepatocellular carcinoma (HCC), we performed RNA-sequencing (RNA-seq) and Chromatin ImmunoPrecipitation-sequencing (ChIP-seq) of liver tumours (HCC) and liver control tissue (FL)…
A. (1 pt) A small hairpin RNA (shRNA) is used to
Transcribed image text: A. (1 pt) A small hairpin RNA (shRNA) is used to knockdown the CB1 receptor. What impact does this have on LTD relative to the control, whose data is represented by the black tringles labeled “Scrambled sequence” (Panel D, right)? B. (1 pt) In the middle graph…
Whole genome methylation sequencing in blood identifies extensive differential DNA methylation in late-onset dementia due to Alzheimer’s disease
Introduction: DNA microarray-based studies report differentially methylated positions (DMPs) in blood between late-onset dementia due to Alzheimer’s disease (AD) and cognitively unimpaired individuals, but interrogate < 4% of the genome. Methods: We used whole genome methylation sequencing (WGMS) to quantify DNA methylation levels at 25,409,826 CpG loci in 281 blood…
Modeling SHANK3-associated autism spectrum disorder in Beagle dogs via CRISPR/Cas9 gene editing
De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515:209–15. Article PubMed PubMed Central Google Scholar Iossifov I, O’Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, et al. The contribution of de novo…
High-resolution analysis of bound Ca2+ in neurons and synapses
Introduction Calcium ions (Ca2+) act as important second messengers in all cells, regulating vital aspects of cellular function from cell proliferation to cell death (Schwarz & Blower, 2016; Giorgi et al, 2018). In the nervous system, Ca2+ signaling plays a special role in the regulation of neuronal and synaptic activities….
Newsmakers: Basic research findings by Johns
FOR IMMEDIATE RELEASE Yes, Scientists Have Sequenced the Entire Human Genome, But They’re Not Done Yet The human genome, from end to end, has been sequenced, meaning scientists worldwide have identified most of the nearly 20,000 protein-coding genes. However, an international group of scientists notes there’s more work to be…
Johns Hopkins Scientists Uncover Gene Links to Hearing, Brain Disorders
Yes, Scientists Have Sequenced the Entire Human Genome, But They’re Not Done Yet The human genome, from end to end, has been sequenced, meaning scientists worldwide have identified most of the nearly 20,000 protein-coding genes. However, an international group of scientists notes there’s more work to be done. The scientists…
Whole transcriptome analysis in offspring whose fathers were exposed to a developmental insult: a novel avian model
Werboff, J. & Gottlier, J. S. Drug in pregnancy: Behavioral teratology. Obstet. Gynecol. Surv. 18, 420–423 (1963). Article Google Scholar Yanai, J. G. The effect of alcohol consumed by parent mice on the susceptibility to audiogenic seizure and the open-field behavior of their offspring. Behav. Genet. 3, 418 (1973). Google…
Integration of single-nuclei RNA-sequencing, spatial transcriptomics and histochemistry defines the complex microenvironment of NF1-associated plexiform neurofibromas | Acta Neuropathologica Communications
Single-nuclei RNA-sequencing analysis of NF1-associated plexiform neurofibroma reveals specific non-neoplastic and neoplastic cellular subpopulations Single-nuclei RNA-sequencing (snRNA-seq) was performed on 8 bulk frozen PN patient samples capturing approximately 4,000 nuclei per sample, a sufficient number of nuclei to provide adequate coverage to report the high levels of cellular heterogeneity found…
Allen Institute for Immunology hiring Manager, Bioinformatics Operations – Immunology in Seattle, WA
The mission of the Allen Institute is to unlock the complexities of bioscience and advance our knowledge to improve human health. Using an open science, multi-scale, team-oriented approach, the Allen Institute focuses on accelerating foundational research, developing standards and models, and cultivating new ideas to make a broad, transformational impact…
Global Precision Medicine Market Size to Reach USD 148.2
Pune, Sept. 26, 2023 (GLOBE NEWSWIRE) — The Global Precision Medicine Market has witnessed remarkable growth, reaching a size of approximately USD 57.69 billion in 2022, and is projected to further expand to USD 110.9 billion with a robust CAGR of 11.5% during the forecast period. Precision medicine, often referred…
Circular RNAs Identified in Brain Cells Impaired by Alzheimer’s, Parkinson’s
Researchers studying circular RNAs (circRNAs) in brain cells have reported new insights into neurological diseases. Investigators headed by a team at Brigham and Women’s Hospital used a laser-capture RNA sequencing technology to profile the transcriptome of neurons in postmortem human brain samples. Their study identified over 11,000 distinct circular RNAs…
What gene annotation was used for PanCanAtlas EBPlusPlus-corrected RNA-seq TCGA dataset?
What gene annotation was used for PanCanAtlas EBPlusPlus-corrected RNA-seq TCGA dataset? 0 Is there any info about what gene annotation (eg. genecode v26, ensembl 75, etc.) has been used to generate the PanCanAtlas EBpluPlus-corrected RNA-seq TCGA dataset (that is ebplusplusadjustpancan_illuminahiseq_rnaseqv2.geneexp.tsv from www.synapse.org/#!Synapse:syn4976363 )? RNAseq RSEM TCGA • 16 views Read…
Infographic: How a Glutamate Sensor Tracks Synapses
The third generation of glutamate sensors, iGluSnFR3, tracks glutamate release at the synapse level. Upon binding to glutamate, the reporter changes its conformation, intensifying the signal of its fluorescent protein. © ISTOCK.COM, wetcake, Designed by Ashleigh Campsall Reference Aggarwal A, et al. Glutamate indicators with improved activation kinetics and…
Comparative single-cell transcriptomic analysis of primate brains highlights human-specific regulatory evolution
Consensus MTG taxonomy across primates The BRAIN Initiative Cell Census Network26 generated high-resolution transcriptomic maps of the MTG in human, chimpanzee, gorilla, macaque and marmoset by applying single-nucleus transcriptomic (snRNA-seq) assays to samples isolated from between three and seven donor brains in each species (plate-based SMART-seq v4 (SSv4) for great…
cudnn error – Avseetvr
28 mai 2020 — Error occurs after about 583 episodes (8 hours) or 1,150,000 steps, where each step involves a forward pass through the LSTM model. My code also …Please ensure that you can successfully run this code before you test the project. If it does not work, it is more…
With Age, Microglia Pump cGAS, Revving Harmful Inflammation
18 Aug 2023 As people age, chronic inflammation can ensue. What drives this so-called “inflammaging”? A study published August 2 in Nature may have identified a primary cause, at least in the mouse brain. Scientists led by Andrea Ablasser at the Swiss Federal Institute of Technology in Lausanne, report that…
The progress of novel strategies on immune-based therapy in relapsed or refractory diffuse large B-cell lymphoma
Susanibar-Adaniya S, Barta SK. 2021 Update on diffuse large B cell lymphoma: a review of current data and potential applications on risk stratification and management. Am J Hematol. 2021;96:617–29. Article PubMed PubMed Central Google Scholar Rovira J, Valera A, Colomo L, Setoain X, Rodriguez S, Martinez-Trillos A, et al. Prognosis…
Activation of cell-free mtDNA-TLR9 signaling mediates chronic stress-induced social behavior deficits
Mahan AL, Ressler KJ. Fear conditioning, synaptic plasticity and the amygdala: implications for posttraumatic stress disorder. Trends Neurosci. 2012;35:24–35. Article CAS PubMed Google Scholar Koenigs M, Grafman J. Posttraumatic stress disorder: the role of medial prefrontal cortex and amygdala. Neuroscientist. 2009;15:540–8. Article PubMed PubMed Central Google Scholar Nemeroff CB, Vale…
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
Bailey, M. H. et al. Comprehensive characterization of cancer driver genes and mutations. Cell 173, 371–385 (2018). Article CAS PubMed PubMed Central Google Scholar Gabriele, M., Tobon, A. L., D’Agostino, G. & Testa, G. The chromatin basis of neurodevelopmental disorders: Rethinking dysfunction along the molecular and temporal axes. Prog. Neuropsychopharmacol….
Data availability for AstraZeneca-Sanger Drug Combination Prediction DREAM Challenge?
Data availability for AstraZeneca-Sanger Drug Combination Prediction DREAM Challenge? 0 Hello everyone. I wonder if anyone has the luck to get the chance to download the dataset from AstraZeneca-Sanger Drug Combination Prediction DREAM Challenge. doi.org/10.7303/syn4231880 This project has been closed since 2016 but still the datasets are not public. I…
What is Azure AI and ML? A Comprehensive Guide (2023)
The realm of artificial intelligence (AI) and machine learning (ML) is ever-evolving. The evolution has led to the inception of a multitude of platforms and tools designed to streamline the development, training, and deployment of AI and ML models. Microsoft Azure has strategically positioned itself in this space, providing robust…
Cell Vesicles Wear Sophisticated Coats
Photo: Clathrin cage, by Mazuraan, CC BY-SA 4.0 , via Wikimedia Commons. Envision a day when self-driving cars make driving obsolete. Now, imagine a far-future day when you don’t even have to get in the car. Instead, as you walk out the front door, a car assembles around you, lifts…
Summary of opinion: Tepkinly,epcoritamab, 20/07/2023, Positive
On 20 July 2023, the Committee for Medicinal Products for Human Use (CHMP) adopted a positive opinion, recommending the granting of a conditional1 marketing authorisation for the medicinal product Tepkinly2, intended for the treatment of diffuse large B‑cell lymphoma (DLBCL). The applicant for this medicinal product is AbbVie Deutschland GmbH &…
MongoDB (MDB) and Microsoft Sign Global Strategic Partnership
MongoDB MDB announced a substantial expansion of its strategic partnership agreement with Microsoft MSFT. The two companies are collaborating to facilitate customers’ cloud adoption journeys, with initiatives like improved accessibility to MongoDB Atlas through the Microsoft commercial marketplace. This partnership will enable millions of developers using the Azure portal to…
Reduced Vrk2 expression is associated with higher risk of depression in humans and mediates depressive-like behaviors in mice | BMC Medicine
The strategy and logic of choosing VRK2 SNPs for genetic analyses We retrieved the summary statistics of VRK2 SNPs in 23andMe, UK Biobank, and PGC2 samples [2, 3], and 256 SNPs region were available in all three GWAS datasets (a total of 246,363 cases and 561,190 controls). An overview about…
Identification of a psychiatric risk gene NISCH at 3p21.1 GWAS locus mediating dendritic spine morphogenesis and cognitive function | BMC Medicine
Hill SK, Reilly JL, Keefe RS, Gold JM, Bishop JR, Gershon ES, Tamminga CA, Pearlson GD, Keshavan MS, Sweeney JA. Neuropsychological impairments in schizophrenia and psychotic bipolar disorder: findings from the Bipolar-Schizophrenia Network on Intermediate Phenotypes (B-SNIP) study. Am J Psychiatry. 2013;170(11):1275–84. PubMed PubMed Central Google Scholar Penzes P, Cahill…
The genetics of neurogenic inflammation in rosacea
A recent study published in Nature Communications identifies rare genetic variants in families with rosacea. Study: Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea. Image Credit: STEKO / Shutterstock.com What is rosacea? Rosacea is a chronic skin disorder that is characterized by erythema, flushing, telangiectasia, hyperplasia, pustules/papules, or…
Taming wild animals with a single gene change, a genomic take on goat domestication
The association between the STIM1-RRM1 locus and tameness. (A) Schematic representation of FD test. The FD was measured when a standing idle goat started to move away from an approaching individual. (B) The FD of the ibex-goat hybrid individuals. The P value between the two groups was calculated by one-way…
Sex specific molecular networks and key drivers of Alzheimer’s disease | Molecular Neurodegeneration
Differential gene expression profiles of female and male AD versus control The numbers of differentially expressed genes (DEGs) identified from different comparisons (AD versus normal aging control subjects; females versus males) were shown in Fig. 1A and Supplemental Fig. 1A. In the PHG region, DEG signatures generated from three comparison groups…
Complete genomes and comparative analyses of Streptomyces phages that influence secondary metabolism and sporulation
Cheng, K. et al. Population genetic analysis of Streptomyces albidoflavus reveals habitat barriers to homologous recombination in the diversification of streptomycetes. Appl. Environ. Microbiol. 81, 966–975 (2015). Article ADS PubMed PubMed Central Google Scholar Bentley, S. D. et al. Complete genome sequence of the model actinomycete Streptomyces coelicolor A3(2). Nature…
Allen Institute for Immunology hiring Bioinformatics Analyst II in Seattle, Washington, United States
Bioinformatics Analyst II – Operations The mission of the Allen Institute is to unlock the complexities of bioscience and advance our knowledge to improve human health. Using an open science, multi-scale, team-oriented approach, the Allen Institute focuses on accelerating foundational research, developing standards and models, and cultivating new ideas to…
Ethanol inhibits dopamine uptake via organic cation transporter 3: Implications for ethanol and cocaine co-abuse
Grant BF, Chou SP, Saha TD, Pickering RP, Kerridge BT, Ruan WJ, et al. Prevalence of 12-month alcohol use, high-risk drinking, and dsm-iv alcohol use disorder in the united states, 2001-2002 to 2012-2013: Results from the national epidemiologic survey on alcohol and related conditions. JAMA Psychiatry. 2017;74:911–23. Article PubMed PubMed…
Comprehensive analysis of the coding and non-coding RNA transcriptome expression profiles of hippocampus tissue in tx-J animal model of Wilson’s disease
Behavioral testing After undergoing a four-day training program, the mice were subjected to a positioning cruise experiment on the fifth day. The experiment involved comparing the escape latency and swimming distance in the quadrant opposite to the platform between the WD group and the control group. The findings indicated that…
Best AI Software 2023
The demand for artificial intelligence software (AI) has increased significantly in recent years, and organizations of all sizes are adopting artificial intelligence to stay competitive. The top AI software and services detailed in this article use artificial intelligence techniques such as generative AI, machine learning, natural language processing, computer vision,…
ITabMed announces the IND approval from NMPA for A-337, a CD3-activating bispecific antibody targeting EpCAM to treat solid tumors | News
SHANGHAI–(BUSINESS WIRE)–Jun 7, 2023– ITabMed Ltd., a clinical-stage biotech company in China, announced the IND approval from China National Medical Products Administration (NMPA) for A-337, a CD3-activating bi-specific antibody targeting EpCAM. This is a “Phase I, Open-label, Dose-escalation Study to Evaluate the Safety and Pharmacokinetics of A-337 in patients with…
KEGG T01001: 2914
Entry 2916 CDS T01001 Symbol GRM6, CSNB1B, GPRC1F, MGLUR6, mGlu6 Name (RefSeq) glutamate metabotropic receptor 6 KO K04608 metabotropic glutamate receptor 6 Organism hsa Homo sapiens (human) Pathway hsa04072 Phospholipase D signaling pathway hsa04080 Neuroactive ligand-receptor interaction hsa04724 Glutamatergic synapse Disease H00787 Congenital stationary night blindness Brite KEGG Orthology (KO) [BR:hsa00001] 09130 Environmental Information…
Blockade of mGluR5 in Astrocytes Derived From Human iPSCs Modulates Astrocytic Function and Increases Phagocytosis[v1]
Preprint Article Version 1 This version is not peer-reviewed , , , , * Version 1 : Received: 30 May 2023 / Approved: 1 June 2023 / Online: 1 June 2023 (03:24:28 CEST) De Lima, I.B.Q.; Cardozo, P.L.; Fahel, J.S.; Lacerda, J.P.S.; Ribeiro, F.M. Blockade of mGluR5 in Astrocytes Derived…
Human microglia show unique transcriptional changes in Alzheimer’s disease
Podlesny-Drabiniok, A., Marcora, E. & Goate, A. M. Microglial phagocytosis: a disease-associated process emerging from Alzheimer’s disease genetics. Trends Neurosci. 43, 965–979 (2020). Article CAS PubMed PubMed Central Google Scholar Calsolaro, V. & Edison, P. Neuroinflammation in Alzheimer’s disease: current evidence and future directions. Alzheimers Dement. 12, 719–732 (2016). Article …
Global Bispecific Antibody Market Opportunity & Clinical Trials Insight 2023
ReportLinker Report Highlights:. • Global Market Yearly & Quarterly Sales Insight (2018 Till Q1’2023). • Global Market Forecast Till 2028. • Global & Regional Sales Insights By Drugs (2018 Till Q1’2023). New York, May 25, 2023 (GLOBE NEWSWIRE) — Reportlinker.com announces the release of the report “Global Bispecific Antibody Market…
Matasar Highlights Recent Developments in Follicular Lymphoma
Matthew Matasar, MD, chief of the division of blood disorders at the Rutgers Cancer Institute and professor at the Rutgers Robert Wood Johnson Medical School, discusses the development of mosunetuzumab (Lunsumio) and how it is impacting the field of follicular lymphoma. One of the biggest, most recent updates in the…
Seizing the SaaS Opportunity: Market Projected to Reach $702.19 Billion by 2030, at a CAGR of 18.82%
Allied Market The global SaaS market is analyzed across solution type, deployment mode, enterprise size, industry vertical and region. PORTLAND, OR , UNITED STATES, UNITED STATES, May 5, 2023 /EINPresswire.com/ — Increasing use of smart phones and app-based services, extensive adoption of public and hybrid cloud, and growing trend of…
By Unleashing Microglial cGAS, Tau STINGs Neurons
26 Apr 2023 Springing a leak is rarely good news, but when microglial mitochondria start oozing, it can be particularly bad in situations of tauopathy. So conclude scientists led by Li Gan and Sadaf Amin, Weill Cornell Medicine, New York, in the April 24 Nature Neuroscience. Tau fibrils damage microglial…
An extra gene causes excessive inhibitory connections in the neocortex of Down syndrome mouse models
An extra copy of a gene that controls synapse formation in the cortex causes excessive inhibitory signaling and may contribute to Down syndrome, according to a new study publishing April 20th in the open access journal PLOS Biology by Bing Ye of the University of Michigan, US, and colleagues. The…
MUSK mutation-induced bilateral vocal cord paralysis
Introduction Congenital myasthenic syndrome (CMS) is a group of rare genetic disorders characterized by neuromuscular transmission disorders.1–3 There are already over 30 identified CMS mutations with differing disease severity, muscle groups affected, onset ages, and therapies. Chevessier et al were the first to identify mutations in the MUSK gene as…
Erratum: Utilizing In Vivo Postnatal Electroporation to Study Cerebellar Granule Neuron Morphology and Synapse Development
An erratum was issued for: Utilizing In Vivo Postnatal Electroporation to Study Cerebellar Granule Neuron Morphology and Synapse Development. A figure was updated. Figure 2 was updated from: Figure 2: In vivo cerebellar electroporation of granule neuron progenitors in P7 wildtype mouse pups. (A) Pups are anesthetized with 4% isoflurane…
RNA biomarkers may help confirm heart disease, study finds
An analysis of blood RNA from patients with angiographically confirmed coronary artery disease has shown how RNA biomarkers may be used to confirm heart disease. The study, published March 25 in the Journal of Molecular and Cellular Cardiology Plus, furthers the current understanding of heart disease and could potentially lead…
Study shows how RNA biomarkers may be used to confirm heart disease
When patients begin to experience chest pain or shortness of breath while exercising, doctors may struggle to correctly diagnose if the problem is caused by coronary artery disease. Classic symptoms of heart disease such as chest pain and shortness of breath are nonspecific and may stem from other medical issues…
hiPSC-based models to decipher the contribution of human astrocytes to Alzheimer’s disease and potential therapeutics | Molecular Neurodegeneration
Arranz AM, De Strooper B. The role of astroglia in Alzheimer’s disease: pathophysiology and clinical implications. Lancet Neurol. 2019;18(4):406–14. Article CAS PubMed Google Scholar Liao MC, Muratore CR, Gierahn TM, Sullivan SE, Srikanth P, De Jager PL, et al. Single-cell detection of secreted Aβ and sAPPα from human IPSC-derived neurons…
Purkinje-Enriched snRNA-seq in SCA7 Cerebellum Reveals Zebrin Identity Loss as a Central Feature of Polyglutamine Ataxias
Abstract Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited neurodegenerative disorder caused by a CAG-polyglutamine repeat expansion in the ataxin-7 gene. SCA7 patients display retinal degeneration and cerebellar degeneration with a striking loss of Purkinje cell neurons as the disease progresses. The normal function of the ataxin-7 protein is…
Friend or foe: role of pathological tau in neuronal death
Bredesen DE, Rao RV, Mehlen P. Cell death in the nervous system. Nature. 2006;443:796–802. Article CAS PubMed PubMed Central Google Scholar Fricker M, Tolkovsky AM, Borutaite V, Coleman M, Brown GC. Neuronal cell death. Physiol Rev. 2018;98:813–80. Article CAS PubMed PubMed Central Google Scholar West MJ, Coleman PD, Flood DG,…
The Clinical Diagnostic Utility of Array CGH in Children with Syndromic Microcephaly
Abstract Background: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India. Aim: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH. Patients and Methods: Of the 60 patients, 33 (55%) males and 27 (45%) females…
The molecular pathology of schizophrenia: an overview of existing knowledge and new directions for future research
Jones HB. Pathology. In: Wexler P. (eds). Information resources in toxicology (Fourth Edition). Academic Press: San Diego, 2009, pp 357–63. Griesinger W. Die Pathologie und therapie der psychischen krankheiten. (Krabbe:Stuttgart, 1861). Kraepelin E. Psychiatrie: ein Lehrbuch für Studierende und Aerzte. (Verlag von Johann Ambrosius Barth:Leipzig, 1899). Jauhar S, Johnstone M,…
Mitochondria DNA copy number, mitochondria DNA total somatic deletions, Complex I activity, synapse number, and synaptic mitochondria number are altered in schizophrenia and bipolar disorder
Mitochondrial dysfunction is a neurobiological phenomenon implicated in the pathophysiology of schizophrenia and bipolar disorder that can synergistically affect synaptic neurotransmission. We hypothesized that schizophrenia and bipolar disorder share molecular alterations at the mitochondrial and synaptic levels. Mitochondria DNA (mtDNA) copy number (CN), mtDNA common deletion (CD), mtDNA total deletion,…
Rare coding variants as risk modifiers of the 22q11.2 deletion implicate postnatal cortical development in syndromic schizophrenia
Edelmann L, Pandita RK, Morrow BE. Low-copy repeats mediate the common 3-Mb deletion in patients with velo-cardio-facial syndrome. Am J Hum Genet. 1999;64:1076–86. Article CAS PubMed PubMed Central Google Scholar Shaikh TH, Kurahashi H, Saitta SC, O’Hare AM, Hu P, Roe BA, et al. Chromosome 22-specific low copy repeats and…
Discussing Current and Potential Expansions to the Lymphoma Treatment Landscape
The treatment landscape for patients with lymphomas, including follicular lymphoma and diffuse large B-cell lymphoma (DLBCL), has undergone significant changes with the advent of chimeric antigen receptor (CAR) T-cell therapies and bispecific antibodies. However, challenges and questions remain in this space. According toMatthew Matasar, MD, one of the major highlights…
How genetics and environment likely to cause of Parkinson’s detailed | Two combine for ‘little tweak’ in dopamine levels
Using a roundworm animal model, researchers identified a crucial mechanism for how signals from the environment can be combined with genetic susceptibility to influence the development of Parkinson’s disease. Mutations in the TNK2 gene, which have been reported in people with familial Parkinson’s, were found to lead to neurodegeneration by…
Does Neural Activity Drive DNA Repair?
24 Feb 2023 Unlike most cell types, which continuously divide, neurons have to last for the life of the organism. How do they do that? One way neurons stay healthy is by repairing their DNA as they transcribe it. That is the upshot of a paper in the February 15…
Cue Biopharma’s Therapeutic Immuno-STAT Biologics to be
Collaboration with the laboratory of Dr. Michael Dustin elucidates the mechanism of action of Immuno-STATs in activating disease-specific T cells by mimicking the natural formation of immune synapses BOSTON, Feb. 16, 2023 (GLOBE NEWSWIRE) — Cue Biopharma, Inc. (Nasdaq: CUE), a clinical-stage biopharmaceutical company developing a novel class of injectable biologics…
Epilepsy Drivers Related to Glioma Revealed
Credit: AlexLMX/Getty Images Researchers from Baylor College of Medicine looking for clues to the drivers of epileptic seizures in glioma patients have found that their tumors can interfere with the ability of surrounding neurons to handle potassium, an important ion in neuronal communication. Their findings, reported in the journal Neuron,…
Opportunities and limitations for studying neuropsychiatric disorders using patient-derived induced pluripotent stem cells
Wen Z, Christian KM, Song H, Ming GL. Modeling psychiatric disorders with patient-derived iPSCs. Curr Opin Neurobiol. 2016;36:118–27. Article CAS PubMed Google Scholar Amin ND, Paşca SP. Building models of brain disorders with three-dimensional organoids. Neuron. 2018;100:389–405. Article CAS PubMed Google Scholar Takahashi K, Tanabe K, Ohnuki M, Narita M,…
Powering Toxicogenomic Studies by Applying Machine Learning to Genomic Sequencing and Variant Detection
Alexandrov LB, Nik-Zainal S, Wedge DC et al (2013) Signatures of mutational processes in human cancer. Nature 500:415–421. doi.org/10.1038/nature12477 CrossRef CAS Google Scholar Alioto TS, Buchhalter I, Derdak S et al (2015) A comprehensive assessment of somatic mutation detection in cancer using whole-genome sequencing. Nat Commun 6:10001. doi.org/10.1038/ncomms10001 CrossRef CAS …
Ghrelin signaling in the cerebellar cortex enhances GABAergic transmission onto Purkinje cells
Kojima, M. et al. Ghrelin is a growth-hormone-releasing acylated peptide from stomach. Nature 402, 656–660 (1999). ADS CAS Google Scholar Rhea, E. M. et al. Ghrelin transport across the blood–brain barrier can occur independently of the growth hormone secretagogue receptor. Mol. Metab. 18, 88–96 (2018). CAS Google Scholar Cowley, M….
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….
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…
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…
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…
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….
The cytoplasmic localization of ADNP through 14-3-3 promotes sex-dependent neuronal morphogenesis, cortical connectivity, and calcium signaling
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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…
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…
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…
Population-level variation in enhancer expression identifies disease mechanisms in the human brain
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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,…
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…
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…
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…
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…
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…