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https://www.readbyqxmd.com/read/29771571/effect-of-weak-combined-static-and-extremely-low-frequency-alternating-magnetic-fields-on-spatial-memory-and-brain-amyloid-%C3%AE-in-two-animal-models-of-alzheimer-s-disease
#1
Natalia V Bobkova, Vadim V Novikov, Natalia I Medvinskaya, Irina Y Aleksandrova, Inna V Nesterova, Eugenii E Fesenko
Subchronic effect of a weak combined magnetic field (MF), produced by superimposing a constant component, 42 µT and an alternating MF of 0.08 µT, which was the sum of two frequencies of 4.38 and 4.88 Hz, was studied in olfactory bulbectomized (OBE) and transgenic Tg (APPswe, PSEN1) mice, which were used as animal models of sporadic and heritable Alzheimer's disease (AD) accordingly. Spatial memory was tested in a Morris water maze on the following day after completion of training trials with the hidden platform removed...
May 17, 2018: Electromagnetic Biology and Medicine
https://www.readbyqxmd.com/read/29747683/reduced-penetrance-of-the-psen1-h163y-autosomal-dominant-alzheimer-mutation-a-22-year-follow-up-study
#2
Steinunn Thordardottir, Elena Rodriguez-Vieitez, Ove Almkvist, Daniel Ferreira, Laure Saint-Aubert, Anne Kinhult-Ståhlbom, Håkan Thonberg, Michael Schöll, Eric Westman, Anders Wall, Maria Eriksdotter, Henrik Zetterberg, Kaj Blennow, Agneta Nordberg, Caroline Graff
BACKGROUND: The range of onset ages within some PSEN1 families is wide, and a few cases of reduced penetrance of PSEN1 mutations have been reported. However, published data on reduced penetrance have been limited to clinical histories, often collected retrospectively and lacking biomarker information. We present a case of reduced penetrance of the PSEN1 H163Y mutation in a carrier prospectively followed for 22 years. METHODS: Two brothers (A and B), both carriers of the H163Y mutation, were followed between 1995 and 2017...
May 10, 2018: Alzheimer's Research & Therapy
https://www.readbyqxmd.com/read/29740579/the-role-of-genetics-in-advancing-precision-medicine-for-alzheimer-s-disease-a-narrative-review
#3
REVIEW
Yun Freudenberg-Hua, Wentian Li, Peter Davies
Alzheimer's disease (AD) is the most common type of dementia, which has a substantial genetic component. AD affects predominantly older people. Accordingly, the prevalence of dementia has been rising as the population ages. To date, there are no effective interventions that can cure or halt the progression of AD. The only available treatments are the management of certain symptoms and consequences of dementia. The current state-of-the-art medical care for AD comprises three simple principles: prevent the preventable, achieve early diagnosis, and manage the manageable symptoms...
2018: Frontiers in Medicine
https://www.readbyqxmd.com/read/29735445/-effect-of-intrahippocampal-injection-of-anti-cellular-prion-protein-monoclonal-antibody-on-cognitive-deficits-in-appswe-psen1-de9-transgenic-mice
#4
Hai-Ying Zhang, Yi-Heng Liu, Yuan Fu, Peng-Cheng Chen, Rui Lu, Jian-Xing Li, Ming-Hui Chen, Hao-Chi Yang, Yu-Sheng Zhang
OBJECTIVE: To study the effects of intrahippocampal injection of cellular prion protein (PrPC ) antibody on cognitive deficits of APPswe/PSEN1dE9 transgenic mice. METHODS: Eight-month-old male APPswe/PSEN1dE9 transgenic mice were subjected to bilateral intrahippocampal injection of a single dose (2 µL) of anti-PrPC monoclonal antibody (EP1802Y) or PBS, with wild-type C57Bl/6J mice serving as the control group. After two months, the mice were tested for cognitive behaviors using open filed (OF) test, Morris water maze (MWM) test, fear conditioning (FC) test, and novel object recognition (NOR) test, and immunohistochemistry was used to examine the changes in hippocampal expression of Aβ1-42 ...
April 20, 2018: Nan Fang Yi Ke da Xue Xue Bao, Journal of Southern Medical University
https://www.readbyqxmd.com/read/29695154/effects-of-astaxanthin-and-docosahexaenoic-acid-acylated-astaxanthin-on-alzheimer-s-disease-in-app-ps1-double-transgenic-mice
#5
Hongxia Che, Qian Li, Tiantian Zhang, Dandan Wang, Lu Yang, Jie Xu, Teruyoshi Yanagita, Changhu Xue, Yaoguang Chang, Yuming Wang
Alzheimer's disease (AD) is a progressive neurodegenerative disorder with the characteristics of senile plaques, neuroinflammation, neurofibrillary tangles, and destruction of synapse structure stability. Previous studies have verified the protective effects of astaxanthin (AST). However, whether synthesized docosahexaenoic-acid-acylated AST diesters (AST-DHA) could delay AD pathogenesis remains unclear. In the present study, APP/PSEN1 (APP/PS1) double-transgenic mice were administrated with AST and AST-DHA for 2 months...
May 16, 2018: Journal of Agricultural and Food Chemistry
https://www.readbyqxmd.com/read/29692703/pleiotropic-effects-of-variants-in-dementia-genes-in-parkinson-disease
#6
Laura Ibanez, Umber Dube, Albert A Davis, Maria V Fernandez, John Budde, Breanna Cooper, Monica Diez-Fairen, Sara Ortega-Cubero, Pau Pastor, Joel S Perlmutter, Carlos Cruchaga, Bruno A Benitez
Background: The prevalence of dementia in Parkinson disease (PD) increases dramatically with advancing age, approaching 80% in patients who survive 20 years with the disease. Increasing evidence suggests clinical, pathological and genetic overlap between Alzheimer disease, dementia with Lewy bodies and frontotemporal dementia with PD. However, the contribution of the dementia-causing genes to PD risk, cognitive impairment and dementia in PD is not fully established. Objective: To assess the contribution of coding variants in Mendelian dementia-causing genes on the risk of developing PD and the effect on cognitive performance of PD patients...
2018: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/29661148/identification-of-missing-variants-by-combining-multiple-analytic-pipelines
#7
Yingxue Ren, Joseph S Reddy, Cyril Pottier, Vivekananda Sarangi, Shulan Tian, Jason P Sinnwell, Shannon K McDonnell, Joanna M Biernacka, Minerva M Carrasquillo, Owen A Ross, Nilüfer Ertekin-Taner, Rosa Rademakers, Matthew Hudson, Liudmila Sergeevna Mainzer, Yan W Asmann
BACKGROUND: After decades of identifying risk factors using array-based genome-wide association studies (GWAS), genetic research of complex diseases has shifted to sequencing-based rare variants discovery. This requires large sample sizes for statistical power and has brought up questions about whether the current variant calling practices are adequate for large cohorts. It is well-known that there are discrepancies between variants called by different pipelines, and that using a single pipeline always misses true variants exclusively identifiable by other pipelines...
April 16, 2018: BMC Bioinformatics
https://www.readbyqxmd.com/read/29618789/altered-dna-repair-an-early-pathogenic-pathway-in-alzheimer-s-disease-and-obesity
#8
Hao Yu, Fiona Edith Harrison, Fen Xia
Unrepaired DNA double-strand breaks (DSBs) are lethal. The present study compared the extent of DSBs, neuronal apoptosis, and status of two major DSB repair pathways - homologous combinational repair (HR) and nonhomologous end-joining (NHEJ) - in hippocampus of 5-6 month and 16-18 month-old wild-type and APP/PSEN1 mice fed control diet or high fat diet (60% fat from lard). We performed immunohistochemical staining and quantification for nuclear foci formation of γ-H2AX for DSBs, RAD51, and 53BP1, which represent the functional status of HR and NHEJ, respectively...
April 4, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29614673/findings-from-the-swedish-study-on-familial-alzheimer-s-disease-including-the-app-swedish-double-mutation
#9
Steinunn Thordardottir, Caroline Graff
This is a brief summary of the findings from the Swedish study on familial Alzheimer's disease (FAD). Similar to other FAD studies, it includes prospective assessments of cognitive function, tissue sampling, and technical analyses such as MRI and PET. This 24-year-old study involves 69 individuals with a 50% risk of inheriting a disease-causing mutation in presenilin 1 (PSEN1 H163Y or I143T), or amyloid precursor protein (the Swedish APP or the arctic APP mutation) who have made a total of 169 visits. Our results show the extraordinary power in this study design to unravel the earliest changes in preclinical AD...
March 29, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29599933/the-genes-associated-with-early-onset-alzheimer-s-disease
#10
REVIEW
Meng-Hui Dai, Hui Zheng, Ling-Dan Zeng, Yan Zhang
Alzheimer's disease (AD) is a progressive neurodegenerative disorder that accounts for the most cases of dementia, which is characterized by the deposition of dense plaques of amyloid beta (Aβ) plaques and neurofibrillary tangles consisting of hyperphosphorylated tau. The two main types of AD can be classified as early-onset AD (EOAD, onset < 65 years) and late-onset AD (LOAD, onset ≥ 65 years). Evidence from family and twin studies indicate that genetic factors are estimated to play a role in at least 80% of AD cases...
March 13, 2018: Oncotarget
https://www.readbyqxmd.com/read/29593239/attenuated-notch-signaling-in-schizophrenia-and-bipolar-disorder
#11
Eva Z Hoseth, Florian Krull, Ingrid Dieset, Ragni H Mørch, Sigrun Hope, Erlend S Gardsjord, Nils Eiel Steen, Ingrid Melle, Hans-Richard Brattbakk, Vidar M Steen, Pål Aukrust, Srdjan Djurovic, Ole A Andreassen, Thor Ueland
The Notch signaling pathway plays a crucial role in neurodevelopment and in adult brain homeostasis. We aimed to further investigate Notch pathway activity in bipolar disorder (BD) and schizophrenia (SCZ) by conducting a pathway analysis. We measured plasma levels of Notch ligands (DLL1 and DLK1) using enzyme immunoassays in a large sample of patients (SCZ n = 551, BD n = 246) and healthy controls (HC n = 639). We also determined Notch pathway related gene expression levels by microarray analyses from whole blood in a subsample (SCZ n = 338, BD n = 241 and HC n = 263)...
March 28, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29579160/data-driven-models-of-dominantly-inherited-alzheimer-s-disease-progression
#12
Neil P Oxtoby, Alexandra L Young, David M Cash, Tammie L S Benzinger, Anne M Fagan, John C Morris, Randall J Bateman, Nick C Fox, Jonathan M Schott, Daniel C Alexander
See Li and Donohue (doi:10.1093/brain/awy089) for a scientific commentary on this article.Dominantly-inherited Alzheimer's disease is widely hoped to hold the key to developing interventions for sporadic late onset Alzheimer's disease. We use emerging techniques in generative data-driven disease progression modelling to characterize dominantly-inherited Alzheimer's disease progression with unprecedented resolution, and without relying upon familial estimates of years until symptom onset. We retrospectively analysed biomarker data from the sixth data freeze of the Dominantly Inherited Alzheimer Network observational study, including measures of amyloid proteins and neurofibrillary tangles in the brain, regional brain volumes and cortical thicknesses, brain glucose hypometabolism, and cognitive performance from the Mini-Mental State Examination (all adjusted for age, years of education, sex, and head size, as appropriate)...
May 1, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29562504/dynamic-causal-modeling-of-preclinical-autosomal-dominant-alzheimer-s-disease
#13
Will Penny, Jorge Iglesias-Fuster, Yakeel T Quiroz, Francisco Javier Lopera, Maria A Bobes
Dynamic causal modeling (DCM) is a framework for making inferences about changes in brain connectivity using neuroimaging data. We fitted DCMs to high-density EEG data from subjects performing a semantic picture matching task. The subjects are carriers of the PSEN1 mutation, which leads to early onset Alzheimer's disease, but at the time of EEG acquisition in 1999, these subjects were cognitively unimpaired. We asked 1) what is the optimal model architecture for explaining the event-related potentials in this population, 2) which connections are different between this Presymptomatic Carrier (PreC) group and a Non-Carrier (NonC) group performing the same task, and 3) which network connections are predictive of subsequent Mini-Mental State Exam (MMSE) trajectories...
March 16, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29521549/cardiac-adenovirus-associated-viral-presenilin-1-gene-delivery-protects-the-left-ventricular-function-of-the-heart-via-regulating-ryr2-function-in-post-ischaemic-heart-failure
#14
Tian Li, Yafeng Shen, Li Su, Xiaoyan Fan, Fangxing Lin, Xuting Ye, Dianer Ding, Ying Tang, Yongji Yang, Changhai Lei, Shi Hu
Post-ischaemic heart failure is a major cause of death worldwide. Reperfusion of infarcted heart tissue after myocardial infarction has been an important medical intervention to improve outcomes. However, disturbances in Ca2+ and redox homeostasis at the cellular level caused by ischaemia/reperfusion remain major clinical challenges. In this study, we investigated the potential of adeno-associated virus (AAV)-9-mediated cardiac expression of a Type-2 ryanodine receptor (RyR2) degradation-associated gene, Presenilin 1 (PSEN1), to combat post-ischaemic heart failure...
March 21, 2018: Journal of Drug Targeting
https://www.readbyqxmd.com/read/29486463/genetic-variation-in-genes-underlying-diverse-dementias-may-explain-a-small-proportion-of-cases-in-the-alzheimer-s-disease-sequencing-project
#15
Elizabeth E Blue, Joshua C Bis, Michael O Dorschner, Debby W Tsuang, Sandra M Barral, Gary Beecham, Jennifer E Below, William S Bush, Mariusz Butkiewicz, Carlos Cruchaga, Anita DeStefano, Lindsay A Farrer, Alison Goate, Jonathan Haines, Jim Jaworski, Gyungah Jun, Brian Kunkle, Amanda Kuzma, Jenny J Lee, Kathryn L Lunetta, Yiyi Ma, Eden Martin, Adam Naj, Alejandro Q Nato, Patrick Navas, Hiep Nguyen, Christiane Reitz, Dolly Reyes, William Salerno, Gerard D Schellenberg, Sudha Seshadri, Harkirat Sohi, Timothy A Thornton, Otto Valadares, Cornelia van Duijn, Badri N Vardarajan, Li-San Wang, Eric Boerwinkle, Josée Dupuis, Margaret A Pericak-Vance, Richard Mayeux, Ellen M Wijsman
BACKGROUND/AIMS: The Alzheimer's Disease Sequencing Project (ADSP) aims to identify novel genes influencing Alzheimer's disease (AD). Variants within genes known to cause dementias other than AD have previously been associated with AD risk. We describe evidence of co-segregation and associations between variants in dementia genes and clinically diagnosed AD within the ADSP. METHODS: We summarize the properties of known pathogenic variants within dementia genes, describe the co-segregation of variants annotated as "pathogenic" in ClinVar and new candidates observed in ADSP families, and test for associations between rare variants in dementia genes in the ADSP case-control study...
February 27, 2018: Dementia and Geriatric Cognitive Disorders
https://www.readbyqxmd.com/read/29478590/the-genetic-landscape-of-alzheimer-disease
#16
Susana Carmona, John Hardy, Rita Guerreiro
Alzheimer disease (AD), a progressive and neurodegenerative disease, is the most common form of dementia with high incidence in elderly people. Neuropathologically the disease is defined by the combined presence of extracellular amyloid-beta (Aβ) plaques and intracellular neurofibrillary tangles of phosphorylated tau protein. Genetically, the first clues were provided by genetic linkage studies that led to the identification of APP, PSEN1, and PSEN2 mutations as the main causes of autosomal-dominant early-onset AD...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29476165/genetics-of-dementia-in-a-finnish-cohort
#17
Petra Pasanen, Liisa Myllykangas, Minna Pöyhönen, Anna Kiviharju, Maija Siitonen, John Hardy, Jose Bras, Anders Paetau, Pentti J Tienari, Rita Guerreiro, Auli Verkkoniemi-Ahola
Alzheimer's disease (AD) and frontotemporal dementia (FTD) are the two most common neurodegenerative dementias. Variants in APP, PSEN1 and PSEN2 are typically linked to early-onset AD, and several genetic risk loci are associated with late-onset AD. Inherited FTD can be caused by hexanucleotide expansions in C9orf72, or variants in GRN, MAPT or CHMP2B. Several other genes have also been linked to FTD or FTD with motor neuron disease. Here we describe a cohort of 60 Finnish families with possible inherited dementia...
February 23, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29466804/phenotypic-variability-in-autosomal-dominant-familial-alzheimer-disease-due-to-the-s170f-mutation-of-presenilin-1
#18
Hannes O Tiedt, Beate Benjamin, Michael Niedeggen, Andreas Lueschow
BACKGROUND: In rare cases, patients with Alzheimer disease (AD) present at an early age and with a family history suggestive of an autosomal dominant mode of inheritance. Mutations of the presenilin-1 (PSEN1) gene are the most common causes of dementia in these patients. Early-onset and particularly familial AD patients frequently present with variable non-amnestic cognitive symptoms such as visual, language or behavioural changes as well as non-cognitive, e.g. motor, symptoms. OBJECTIVE: To investigate the phenotypic variability in carriers of the PSEN1 S170F mutation...
February 22, 2018: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29445268/genome-editing-applications-of-crispr-cas9-to-promote-in-vitro-studies-of-alzheimer-s-disease
#19
REVIEW
Vo Van Giau, Hyon Lee, Kyu Hwan Shim, Eva Bagyinszky, Seong Soo A An
Genetic variations play an important role in the clinical presentation and progression of Alzheimer's disease (AD), especially early-onset Alzheimer's disease. Hundreds of mutations have been reported with the majority resulting from alterations in β-amyloid precursor protein ( APP ), presenilin 1 ( PSEN1 ), or presenilin 2 ( PSEN2 ) genes. The roles of these mutations in the pathogenesis of AD have been classically confirmed or refuted through functional studies, where the mutations are cloned, inserted into cell lines, and monitored for changes in various properties including cell survival, amyloid production, or Aβ42/40 ratio...
2018: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/29435558/association-between-amyloid-and-tau-accumulation-in-young-adults-with-autosomal-dominant-alzheimer-disease
#20
Yakeel T Quiroz, Reisa A Sperling, Daniel J Norton, Ana Baena, Joseph F Arboleda-Velasquez, Danielle Cosio, Aaron Schultz, Molly Lapoint, Edmarie Guzman-Velez, John B Miller, Leo A Kim, Kewei Chen, Pierre N Tariot, Francisco Lopera, Eric M Reiman, Keith A Johnson
Importance: It is critically important to improve our ability to diagnose and track Alzheimer disease (AD) as early as possible. Individuals with autosomal dominant forms of AD can provide clues as to which and when biological changes are reliably present prior to the onset of clinical symptoms. Objective: To characterize the associations between amyloid and tau deposits in the brains of cognitively unimpaired and impaired carriers of presenilin 1 (PSEN1) E280A mutation...
February 12, 2018: JAMA Neurology
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