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JOURNAL ARTICLE
Joseph D Romano, Van Truong, Rachit Kumar, Mythreye Venkatesan, Britney E Graham, Yun Hao, Nick Matsumoto, Xi Li, Zhiping Wang, Marylyn D Ritchie, Li Shen, Jason H Moore
BACKGROUND: As global populations age and become susceptible to neurodegenerative illnesses, new therapies for Alzheimer disease (AD) are urgently needed. Existing data resources for drug discovery and repurposing fail to capture relationships central to the disease's etiology and response to drugs. OBJECTIVE: We designed the Alzheimer's Knowledge Base (AlzKB) to alleviate this need by providing a comprehensive knowledge representation of AD etiology and candidate therapeutics...
April 18, 2024: Journal of Medical Internet Research
#2
JOURNAL ARTICLE
Yinghui Li, Xingchen Liu, Xue Sun, Hui Li, Shige Wang, Wotu Tian, Chen Xiang, Xuyuan Zhang, Jiajia Zheng, Haifang Wang, Liguo Zhang, Li Cao, Catherine C L Wong, Zhihua Liu
Scavenger receptor class B, member 2 (SCARB2) is linked to Gaucher disease (GD) and Parkinson's disease (PD). Deficiency in the SCARB2 gene causes progressive myoclonus epilepsy (PME), a rare group of inherited neurodegenerative diseases characterized by myoclonus. We found that Scarb2 deficiency in mice leads to age-dependent dietary lipid malabsorption, accompanied with vitamin E deficiency. Our investigation revealed that Scarb2 deficiency is associated with gut dysbiosis and an altered bile acid pool, leading to hyperactivation of FXR in intestine...
April 18, 2024: Protein & Cell
#3
REVIEW
Emma Friesen, Kamya Hari, Maxina Sheft, Jonathan D Thiessen, Melanie Martin
Neurodegenerative disorders, including Multiple Sclerosis (MS), are heterogenous disorders which affect the myelin sheath of the central nervous system (CNS). Magnetic Resonance Imaging (MRI) provides a non-invasive method for studying, diagnosing, and monitoring disease progression. As an emerging research area, many studies have attempted to connect MR metrics to underlying pathophysiological presentations of heterogenous neurodegeneration. Most commonly, small animal models are used, including Experimental Autoimmune Encephalomyelitis (EAE), Theiler's Murine Encephalomyelitis (TMEV), and toxin models including cuprizone (CPZ), lysolecithin, and ethidium bromide (EtBr)...
April 18, 2024: Magma
#4
JOURNAL ARTICLE
Ieva Baronaitė, Darius Šulskis, Aurimas Kopu Stas, Marijonas Tutkus, Vytautas Smirnovas
Calcium-binding S100A8 and S100A9 proteins play a significant role in various disorders due to their pro-inflammatory functions. Substantially, they are also relevant in neurodegenerative disorders via the delivery of signals for the immune response. However, at the same time, they can aggregate and accelerate the progression of diseases. Natively, S100A8 and S100A9 exist as homo- and heterodimers, but upon aggregation, they form amyloid-like oligomers, fibrils, or amorphous aggregates. In this study, we aimed to elucidate the aggregation propensities of S100A8, S100A9, and their heterodimer calprotectin by investigating aggregation kinetics, secondary structures, and morphologies of the aggregates...
April 18, 2024: ACS Chemical Neuroscience
#5
JOURNAL ARTICLE
Claire André, Marie-Ève Martineau-Dussault, Andrée-Ann Baril, Nicola Andrea Marchi, Véronique Daneault, Dominique Lorrain, Carol Hudon, Célyne H Bastien, Dominique Petit, Cynthia Thompson, Judes Poirier, Jacques Montplaisir, Nadia Gosselin, Julie Carrier
STUDY OBJECTIVES: Apolipoprotein E ɛ4 (APOE4) is the strongest genetic risk factor for Alzheimer's disease (AD). In addition, APOE4 carriers may exhibit sleep disturbances, but conflicting results have been reported, such that there is no clear consensus regarding which aspects of sleep are impacted. Our objective was to compare objective sleep architecture between APOE4 carriers and non-carriers, and to investigate the modulating impact of age, sex, cognitive status and obstructive sleep apnea...
April 18, 2024: Sleep
#6
Kaitlin Morrison, Hitoshi Koshiya, Robert Safier, Amanda Brown, Carol May, Jerry Vockley, Lina Ghaloul-Gonzalez
TANGO2 deficiency disorder (TDD) is a neurodegenerative disease characterized by a broad and variable spectrum of clinical manifestations, even among individuals sharing the same pathogenic variants. Here, we report a severely affected individual with TDD presenting with intractable paroxysmal sympathetic hyperactivity (PSH). While progressive brain atrophy has been observed in TDD, PSH has not been reported. Despite comprehensive workup for an acute trigger, no definite cause was identified, and pharmacological interventions were ineffective to treat PSH...
April 18, 2024: American Journal of Medical Genetics. Part A
#7
REVIEW
Matthias J P van Osch, Anders Wåhlin, Paul Scheyhing, Ingrid Mossige, Lydiane Hirschler, Anders Eklund, Klara Mogensen, Ryszard Gomolka, Alexander Radbruch, Sara Qvarlander, Andreas Decker, Maiken Nedergaard, Yuki Mori, Per Kristian Eide, Katerina Deike, Geir Ringstad
Over the last decade, it has become evident that cerebrospinal fluid (CSF) plays a pivotal role in brain solute clearance through perivascular pathways and interactions between the brain and meningeal lymphatic vessels. Whereas most of this fundamental knowledge was gained from rodent models, human brain clearance imaging has provided important insights into the human system and highlighted the existence of important interspecies differences. Current gold standard techniques for human brain clearance imaging involve the injection of gadolinium-based contrast agents and monitoring their distribution and clearance over a period from a few hours up to 2 days...
April 18, 2024: NMR in Biomedicine
#8
JOURNAL ARTICLE
Didem Akkaya, Gökçe Seyhan, Suat Sari, Burak Barut
Alzheimer's disease (AD), one of the main causes of dementia, is a neurodegenerative disorder. Cholinesterase inhibitors are used in the treatment of AD, but prolonged use of these drugs can lead to serious side effects. Drug repurposing is an approach that aims to reveal the effectiveness of drugs in different diseases beyond their clinical uses. In this work, we investigated in vitro and in silico inhibitory effects of 11 different drugs on cholinesterases. The results showed that trimebutine, theophylline, and levamisole had the highest acetylcholinesterase inhibitory actions among the tested drugs, and these drugs inhibited by 68...
May 2024: Drug Development Research
#9
JOURNAL ARTICLE
Koji Yoshida, Shelley L Forrest, Shojiro Ichimata, Hidetomo Tanaka, Tomoya Kon, Maria Carmela Tartaglia, Charles H Tator, Anthony E Lang, Naoki Nishida, Gabor G Kovacs
AIMS: Hirano bodies (HBs) are eosinophilic pathological structures with two morphological phenotypes commonly found in the hippocampal CA1 region in Alzheimer's disease (AD). This study evaluated the prevalence and distribution of HBs in AD and other neurodegenerative diseases. METHODS: This cross-sectional study systematically evaluated HBs in a cohort of 193 cases with major neurodegenerative diseases, including AD (n = 91), Lewy body disease (LBD, n = 87), progressive supranuclear palsy (PSP, n = 36), multiple system atrophy (MSA, n = 14) and controls (n = 26)...
April 2024: Neuropathology and Applied Neurobiology
#10
JOURNAL ARTICLE
Jordy van Enkhuizen, Jean Binns, April Betts, Fatemeh Saberi Hosnijeh, Myriam Alexander, Mark McCormack, Saiju Jacob
BACKGROUND: There are limited data on the real-world healthcare resource use (HCRU) and management costs of myasthenia gravis (MG) in England. OBJECTIVE: This study aims to assess the burden of disease for patients with MG in England. DESIGN: A retrospective, observational cohort study of adult patients diagnosed with MG, using data from the Hospital Episode Statistics data warehouse. METHODS: Patients with a first-ever recorded diagnosis of MG between 30 June 2015 and 30 June 2020 were followed up until 30 June 2021 or death, whichever occurred first...
2024: Therapeutic Advances in Neurological Disorders
#11
REVIEW
Michele Rinaldi, Antonio Pezone, Gaia Italia Quadrini, Gianmarco Abbadessa, Maria Paola Laezza, Maria Laura Passaro, Antonio Porcellini, Ciro Costagliola
The intricate parallels in structure and function between the human retina and the central nervous system designate the retina as a prospective avenue for understanding brain-related processes. This review extensively explores the shared physiopathological mechanisms connecting age-related macular degeneration (AMD) and proteinopathies, with a specific focus on tauopathies. The pivotal involvement of oxidative stress and cellular senescence emerges as key drivers of pathogenesis in both conditions. Uncovering these shared elements not only has the potential to enhance our understanding of intricate neurodegenerative diseases but also sets the stage for pioneering therapeutic approaches in AMD...
2024: Frontiers in Aging Neuroscience
#12
REVIEW
Jianda Kong, Rao Fan, Yuanqi Zhang, Zixuan Jia, Jing Zhang, Huixin Pan, Qinglu Wang
Oxidative stress is caused by an imbalance between the production of reactive oxygen species (ROS) and the body's ability to counteract their harmful effects, playing a key role in the pathogenesis of brain and lung-related diseases. This review comprehensively examines the intricate mechanisms by which oxidative stress influences cellular and molecular pathways, contributing to neurodegenerative, cardiovascular, and respiratory disorders. Emphasizing the detrimental effects on both brain and lung health, we discuss innovative diagnostic biomarkers, such as 8-hydroxy-2'-deoxyguanosine (8-OHdG), and the potential of antioxidant therapies...
2024: Frontiers in Aging Neuroscience
#13
Sai Zhang, Tobias Moll, Jasper Rubin-Sigler, Sharon Tu, Shuya Li, Enming Yuan, Menghui Liu, Afreen Butt, Calum Harvey, Sarah Gornall, Elham Alhalthli, Allan Shaw, Cleide Dos Santos Souza, Laura Ferraiuolo, Eran Hornstein, Tatyana Shelkovnikova, Charlotte H van Dijk, Ilia S Timpanaro, Kevin P Kenna, Jianyang Zeng, Philip S Tsao, Pamela J Shaw, Justin K Ichida, Johnathan Cooper-Knock, Michael P Snyder
Amyotrophic lateral sclerosis (ALS) is a fatal and incurable neurodegenerative disease caused by the selective and progressive death of motor neurons (MNs). Understanding the genetic and molecular factors influencing ALS survival is crucial for disease management and therapeutics. In this study, we introduce a deep learning-powered genetic analysis framework to link rare noncoding genetic variants to ALS survival. Using data from human induced pluripotent stem cell (iPSC)-derived MNs, this method prioritizes functional noncoding variants using deep learning, links cis-regulatory elements (CREs) to target genes using epigenomics data, and integrates these data through gene-level burden tests to identify survival-modifying variants, CREs, and genes...
April 1, 2024: medRxiv
#14
Marijne Vandebergh, Eliana Marisa Ramos, Nick Corriveau-Lecavalier, Vijay K Ramanan, John Kornak, Carly Mester, Tyler Kolander, Danielle Brushaber, Adam M Staffaroni, Daniel Geschwind, Amy Wolf, Kejal Kantarci, Tania F Gendron, Leonard Petrucelli, Marleen Van den Broeck, Sarah Wynants, Matthew C Baker, Sergi Borrego-Écija, Brian Appleby, Sami Barmada, Andrea Bozoki, David Clark, R Ryan Darby, Bradford C Dickerson, Kimiko Domoto-Reilly, Julie A Fields, Douglas R Galasko, Nupur Ghoshal, Neill Graff-Radford, Ian M Grant, Lawrence S Honig, Ging-Yuek Robin Hsiung, Edward D Huey, David Irwin, David S Knopman, Justin Y Kwan, Gabriel C Léger, Irene Litvan, Joseph C Masdeu, Mario F Mendez, Chiadi Onyike, Belen Pascual, Peter Pressman, Aaron Ritter, Erik D Roberson, Allison Snyder, Anna Campbell Sullivan, M Carmela Tartaglia, Dylan Wint, Hilary W Heuer, Leah K Forsberg, Adam L Boxer, Howard J Rosen, Bradley F Boeve, Rosa Rademakers
BACKGROUND AND OBJECTIVES: TMEM106B has been proposed as a modifier of disease risk in FTLD-TDP, particularly in GRN mutation carriers. Furthermore, TMEM106B has been investigated as a disease modifier in the context of healthy aging and across multiple neurodegenerative diseases. The objective of this study is to evaluate and compare the effect of TMEM106B on gray matter volume and cognition in each of the common genetic FTD groups and in sporadic FTD patients. METHODS: Participants were enrolled through the ARTFL/LEFFTDS Longitudinal Frontotemporal Lobar Degeneration (ALLFTD) study, which includes symptomatic and presymptomatic individuals with a pathogenic mutation in C9orf72, GRN, MAPT, VCP, TBK1, TARDBP, symptomatic non-mutation carriers, and non-carrier family controls...
April 5, 2024: medRxiv
#15
JOURNAL ARTICLE
Ali Akbar Ashkarran, Soheyl Tadjiki, Zijin Lin, Kylie Hilsen, Noor Ghazali, Sarah Krikor, Shahriar Sharifi, Meisam Asgari, Michael Hotchkin, Adam Dorfman, Karen S Ho, Morteza Mahmoudi
The interaction between nanoparticles (NPs) and biological environments is profoundly influenced by a stable, strongly adsorbed "hard" protein corona. This corona significantly determines the NPs' pharmacokinetics and biological destiny. Our study delves into the mechanisms by which colloidal Au nanocrystals that are synthesized electrochemically without surface-capping organic ligands, known as CNM-Au8, traverse the blood-brain barrier (BBB) and target human brain tissue for treating neurodegenerative disorders...
April 12, 2024: ACS Pharmacology & Translational Science
#16
JOURNAL ARTICLE
Alia A Alokley, Fatimah M Alhubail, Abdullah M Al Omair, Rawan A Alturki, Rabab M Alhaddad, Ali M Al Mousa, Sarah A Busbait, Mohammed A Alnaim
INTRODUCTION: Insufficient knowledge and beliefs hinder the early diagnosis and provision of adequate treatment and care for PD patients, causing socio-economic burdens. Raising public awareness and understanding the knowledge gap is crucial for effective educational programs and early detection. This study aims to assess the perception of Parkinson's disease (PD) among visitors of a public campaign conducted to raise PD awareness and knowledge to facilitate early detection and management...
2024: Frontiers in Neurology
#17
JOURNAL ARTICLE
Eric Salmon, Françoise Lekeu, Anne Quittre, Vinciane Godichard, Catherine Olivier, Vinciane Wojtasik, Christine Bastin
INTRODUCTION: Awareness influences the evolution of neurodegenerative dementias. We gathered participants' and caregivers assessments of dependence in daily activities and we studied how each score would be related to next year participant autonomy, independently of other explicative variables. METHOD: We retrospectively analyzed data from mildly demented participants with a clinical diagnosis of Alzheimer's disease (AD, n = 186) and frontotemporal dementia (FTD, n = 29) and their relatives...
2024: Alzheimer's & Dementia: Translational Research & Clinical Interventions
#18
JOURNAL ARTICLE
Shamini Hemandhar Kumar, Ines Tapken, Daniela Kuhn, Peter Claus, Klaus Jung
Introduction: Gene set enrichment analysis (GSEA) subsequent to differential expression analysis is a standard step in transcriptomics and proteomics data analysis. Although many tools for this step are available, the results are often difficult to reproduce because set annotations can change in the databases, that is, new features can be added or existing features can be removed. Finally, such changes in set compositions can have an impact on biological interpretation. Methods: We present bootGSEA, a novel computational pipeline, to study the robustness of GSEA...
2024: Front Bioinform
#19
REVIEW
Hyeon Jong Yu, Yoon Hwan Byun, Chul-Kee Park
Telomeres are located at the ends of chromosomes and have specific sequences with a distinctive structure that safeguards genes. They possess capping structures that protect chromosome ends from fusion events and ensure chromosome stability. Telomeres shorten in length during each cycle of cell division. When this length reaches a certain threshold, it can lead to genomic instability, thus being implicated in various diseases, including cancer and neurodegenerative disorders. The possibility of telomeres serving as a biomarker for aging and age-related disease is being explored, and their significance is still under study...
December 2024: Computational and Structural Biotechnology Journal
#20
JOURNAL ARTICLE
Xiaosong Liu, Bozidar Novak, Christian Namendorf, Barbara Steigenberger, Yaoyang Zhang, Christoph W Turck
Protein turnover is an important mechanism to maintain proteostasis. Long-lived proteins (LLPs) are vulnerable to lose their function due to time-accumulated damages. In this study we employed in vivo stable isotope labeling in mice from birth to postnatal day 89. Quantitative proteomics analysis of ten tissues and plasma identified 2113 LLPs, including widespread and tissue-specific ones. Interestingly, a significant percentage of LLPs was detected in plasma, implying a potential link to age-related cardiovascular diseases...
April 19, 2024: IScience
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