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https://www.readbyqxmd.com/read/28097223/abca7-loss-of-function-variants-expression-and-neurologic-disease-risk
#1
Mariet Allen, Sarah J Lincoln, Morgane Corda, Jens O Watzlawik, Minerva M Carrasquillo, Joseph S Reddy, Jeremy D Burgess, Thuy Nguyen, Kimberly Malphrus, Ronald C Petersen, Neill R Graff-Radford, Dennis W Dickson, Nilüfer Ertekin-Taner
OBJECTIVE: To investigate and characterize putative "loss-of-function" (LOF) adenosine triphosphate-binding cassette, subfamily A member 7 (ABCA7) mutations reported to associate with Alzheimer disease (AD) risk. METHODS: We genotyped 6 previously reported ABCA7 putative LOF variants in 1,465 participants with AD, 381 participants with other neuropathologies (non-AD), and 1,043 controls and assessed the overall mutational burden for association with different diagnosis groups...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28091533/atp-binding-cassette-transporter-abca7-regulates-nkt-cell-development-and-function-by-controlling-cd1d-expression-and-lipid-raft-content
#2
Heba N Nowyhed, Shilpi Chandra, William Kiosses, Paola Marcovecchio, Farah Andary, Meng Zhao, Michael L Fitzgerald, Mitchell Kronenberg, Catherine C Hedrick
ABCA7 is an ABC transporter expressed on the plasma membrane, and actively exports phospholipid complexes from the cytoplasmic to the exocytoplasmic leaflet of membranes. Invariant NKT (iNKT) cells are a subpopulation of T lymphocytes that recognize glycolipid antigens in the context of CD1d-mediated antigen presentation. In this study, we demonstrate that ABCA7 regulates the development of NKT cells in a cell-extrinsic manner. We found that in Abca7(-/-) mice there is reduced expression of CD1d accompanied by an alteration in lipid raft content on the plasma membrane of thymocytes and antigen presenting cells...
January 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28078323/genetic-architecture-of-age-related-cognitive-decline-in-african-americans
#3
Towfique Raj, Lori B Chibnik, Cristin McCabe, Andus Wong, Joseph M Replogle, Lei Yu, Sujuan Gao, Frederick W Unverzagt, Barbara Stranger, Jill Murrell, Lisa Barnes, Hugh C Hendrie, Tatiana Foroud, Anna Krichevsky, David A Bennett, Kathleen S Hall, Denis A Evans, Philip L De Jager
OBJECTIVE: To identify genetic risk factors associated with susceptibility to age-related cognitive decline in African Americans (AAs). METHODS: We performed a genome-wide association study (GWAS) and an admixture-mapping scan in 3,964 older AAs from 5 longitudinal cohorts; for each participant, we calculated a slope of an individual's global cognitive change from neuropsychological evaluations. We also performed a pathway-based analysis of the age-related cognitive decline GWAS...
February 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28005991/drug-repositioning-for-alzheimer-s-disease-based-on-systematic-omics-data-mining
#4
Ming Zhang, Gerold Schmitt-Ulms, Christine Sato, Zhengrui Xi, Yalun Zhang, Ye Zhou, Peter St George-Hyslop, Ekaterina Rogaeva
Traditional drug development for Alzheimer's disease (AD) is costly, time consuming and burdened by a very low success rate. An alternative strategy is drug repositioning, redirecting existing drugs for another disease. The large amount of biological data accumulated to date warrants a comprehensive investigation to better understand AD pathogenesis and facilitate the process of anti-AD drug repositioning. Hence, we generated a list of anti-AD protein targets by analyzing the most recent publically available 'omics' data, including genomics, epigenomics, proteomics and metabolomics data...
2016: PloS One
https://www.readbyqxmd.com/read/28002825/from-common-to-rare-variants-the-genetic-component-of-alzheimer-disease
#5
Gaël Nicolas, Camille Charbonnier, Dominique Campion
Alzheimer disease (AD) is a remarkable example of genetic heterogeneity. Extremely rare variants in the APP, PSEN1, or PSEN2 genes, or duplications of the APP gene cause autosomal dominant forms, generally with complete penetrance by the age of 65 years. Nonautosomal dominant forms are considered as a complex disorder with a high genetic component, whatever the age of onset. Although genetically heterogeneous, AD is defined by the same neuropathological criteria in all configurations. According to the amyloid cascade hypothesis, the Aβ peptide, which aggregates in AD brains, is a key player...
December 22, 2016: Human Heredity
https://www.readbyqxmd.com/read/28002023/valproic-acid-vpa-enhances-cisplatin-sensitivity-of-non-small-cell-lung-cancer-cells-via-hdac2-mediated-down-regulation-of-abca1
#6
Jian-Hui Chen, Yu-Long Zheng, Chuan-Qin Xu, Li-Zhi Gu, Zong-Li Ding, Ling Qin, Yi Wang, Ran Fu, Yu-Feng Wan, Cheng-Ping Hu
Valproic acid (VPA) has been suggested to be a histone deacetylase inhibitor (HDACI). Our present study revealed that VPA at 1 mM, which had no effect on cell proliferation, can significantly increase the sensitivity of non-small cell lung cancer (NSCLC) cells to cisplatin (DDP). VPA treatment markedly decreased the mRNA and protein levels of ABCA1, while had no significant effect on ABCA3, ABCA7 or ABCB10. Luciferase reporter assays showed that VPA can decrease the ABCA1 promoter activity in both A549 and H358 cells...
December 20, 2016: Biological Chemistry
https://www.readbyqxmd.com/read/27883225/computational-screening-and-exploration-of-disease-associated-genes-in-alzheimer-s-disease
#7
Salma Jamal, Sukriti Goyal, Asheesh Shanker, Abhinav Grover
Alzheimer's is a neurodegenerative disease affecting large populations worldwide characterized mainly by progressive loss of memory along with various other symptoms. The foremost cause of the disease is still unclear, however various mechanisms have been proposed to cause the disease that include amyloid hypothesis, tau hypothesis and cholinergic hypothesis in addition to genetic factors. Various genes have been known to be involved which are APOE, PSEN1, PSEN2 and APP among others. In the present study, we have used computational methods to examine the pathogenic effects of non-synonymous single nucleotide polymorphisms (SNPs) associated with ABCA7, CR1, MS4A6A, CD2AP, PSEN1, PSEN2 and APP genes...
November 24, 2016: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/27849641/genetic-comparison-of-symptomatic-and-asymptomatic-persons-with-alzheimer-disease-neuropathology
#8
Sarah E Monsell, Charles Mock, David W Fardo, Sarah Bertelsen, Nigel J Cairns, Catherine M Roe, Sally R Ellingson, John C Morris, Alison M Goate, Walter A Kukull
OBJECTIVE: The objective was to determine whether symptomatic and asymptomatic persons with Alzheimer's disease (AD) neuropathology have different allele counts for single-nucleotide polymorphisms that have been associated with clinical late-onset AD. METHODS: Data came from the National Alzheimer's Coordinating Center Uniform Data Set and Neuropathology Data Set, and the Alzheimer's Disease Genetics Consortium (ADGC). Participants had low to high AD neuropathologic change...
November 15, 2016: Alzheimer Disease and Associated Disorders
https://www.readbyqxmd.com/read/27770636/two-novel-loci-cobl-and-slc10a2-for-alzheimer-s-disease-in-african-americans
#9
Jesse Mez, Jaeyoon Chung, Gyungah Jun, Joshua Kriegel, Alexandra P Bourlas, Richard Sherva, Mark W Logue, Lisa L Barnes, David A Bennett, Joseph D Buxbaum, Goldie S Byrd, Paul K Crane, Nilüfer Ertekin-Taner, Denis Evans, M Daniele Fallin, Tatiana Foroud, Alison Goate, Neill R Graff-Radford, Kathleen S Hall, M Ilyas Kamboh, Walter A Kukull, Eric B Larson, Jennifer J Manly, Jonathan L Haines, Richard Mayeux, Margaret A Pericak-Vance, Gerard D Schellenberg, Kathryn L Lunetta, Lindsay A Farrer
INTRODUCTION: African Americans' (AAs) late-onset Alzheimer's disease (LOAD) genetic risk profile is incompletely understood. Including clinical covariates in genetic analyses using informed conditioning might improve study power. METHODS: We conducted a genome-wide association study (GWAS) in AAs employing informed conditioning in 1825 LOAD cases and 3784 cognitively normal controls. We derived a posterior liability conditioned on age, sex, diabetes status, current smoking status, educational attainment, and affection status, with parameters informed by external prevalence information...
October 20, 2016: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
https://www.readbyqxmd.com/read/27718423/fine-mapping-the-effects-of-alzheimer-s-disease-risk-loci-on-brain-morphology
#10
Gennady V Roshchupkin, Hieab H Adams, Sven J van der Lee, Meike W Vernooij, Cornelia M van Duijn, Andre G Uitterlinden, Aad van der Lugt, Albert Hofman, Wiro J Niessen, Mohammad A Ikram
The neural substrate of genetic risk variants for Alzheimer's disease (AD) remains unknown. We studied their effect on healthy brain morphology to provide insight into disease etiology in the preclinical phase. We included 4071 nondemented, elderly participants of the population-based Rotterdam Study who underwent brain magnetic resonance imaging and genotyping. We performed voxel-based morphometry (VBM) on all gray-matter voxels for 19 previously identified, common AD risk variants. Whole-brain expression data from the Allen Human Brain Atlas was used to examine spatial overlap between VBM association results and expression of genes in AD risk loci regions...
December 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27472885/abca7-mediates-phagocytic-clearance-of-amyloid-%C3%AE-in-the-brain
#11
YuHong Fu, Jen-Hsiang T Hsiao, George Paxinos, Glenda M Halliday, Woojin Scott Kim
Alzheimer's disease (AD) is a neurodegenerative disorder characterized by dementia and abnormal deposits of aggregated amyloid-β in the brain. Recent genome-wide association studies have revealed that ABCA7 is strongly associated with AD. In vitro evidence suggests that the role of ABCA7 is related to phagocytic activity. Deletion of ABCA7 in a mouse model of AD exacerbates cerebral amyloid-β plaque load. However, the biological role of ABCA7 in AD brain pathogenesis is unknown. We show that ABCA7 is highly expressed in microglia and when monocytes are differentiated into macrophages...
September 6, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27314524/genetic-variations-in-abca7-can-increase-secreted-levels-of-amyloid-%C3%AE-40-and-amyloid-%C3%AE-42-peptides-and-abca7-transcription-in-cell-culture-models
#12
Michelle Bamji-Mirza, Yan Li, Dema Najem, Qing Yan Liu, Douglas Walker, Lih-Fen Lue, Jacek Stupak, Kenneth Chan, Jianjun Li, Mahdi Ghani, Ze Yang, Ekaterina Rogaeva, Wandong Zhang
Alzheimer's disease (AD) is characterized by extracellular deposits of amyloid-β (Aβ) in the brain. ABCA7 is highly expressed in the brain and a susceptibility gene for late-onset AD (LOAD). The minor alleles at two ABCA7 single-nucleotide polymorphisms (SNPs), rs3764650 (T>G; intron13) and rs3752246 at a predicted myristoylation site (C>G; exon33; p.Gly1527Ala), are significantly associated with LOAD risk; however, the mechanism of this association is unknown. Functional consequences of both SNPs were examined in HEK293 and CHO cells stably expressing AβPPSwe...
June 13, 2016: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/27289440/abca7-p-g215s-as-potential-protective-factor-for-alzheimer-s-disease
#13
Celeste Sassi, Michael A Nalls, Perry G Ridge, Jesse R Gibbs, Jinhui Ding, Michelle K Lupton, Claire Troakes, Katie Lunnon, Safa Al-Sarraj, Kristelle S Brown, Christopher Medway, Naomi Clement, Jenny Lord, James Turton, Jose Bras, Maria R Almeida, Henne Holstege, Eva Louwersheimer, Wiesje M van der Flier, Philip Scheltens, John C Van Swieten, Isabel Santana, Catarina Oliveira, Kevin Morgan, John F Powell, John S Kauwe, Carlos Cruchaga, Alison M Goate, Andrew B Singleton, Rita Guerreiro, John Hardy
Genome-wide association studies (GWASs) have been effective approaches to dissect common genetic variability underlying complex diseases in a systematic and unbiased way. Recently, GWASs have led to the discovery of over 20 susceptibility loci for Alzheimer's disease (AD). Despite the evidence showing the contribution of these loci to AD pathogenesis, their genetic architecture has not been extensively investigated, leaving the possibility that low frequency and rare coding variants may also occur and contribute to the risk of disease...
October 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27231719/abca7-frameshift-deletion-associated-with-alzheimer-disease-in-african-americans
#14
Holly N Cukier, Brian W Kunkle, Badri N Vardarajan, Sophie Rolati, Kara L Hamilton-Nelson, Martin A Kohli, Patrice L Whitehead, Beth A Dombroski, Derek Van Booven, Rosalyn Lang, Derek M Dykxhoorn, Lindsay A Farrer, Michael L Cuccaro, Jeffery M Vance, John R Gilbert, Gary W Beecham, Eden R Martin, Regina M Carney, Richard Mayeux, Gerard D Schellenberg, Goldie S Byrd, Jonathan L Haines, Margaret A Pericak-Vance
OBJECTIVE: To identify a causative variant(s) that may contribute to Alzheimer disease (AD) in African Americans (AA) in the ATP-binding cassette, subfamily A (ABC1), member 7 (ABCA7) gene, a known risk factor for late-onset AD. METHODS: Custom capture sequencing was performed on ∼150 kb encompassing ABCA7 in 40 AA cases and 37 AA controls carrying the AA risk allele (rs115550680). Association testing was performed for an ABCA7 deletion identified in large AA data sets (discovery n = 1,068; replication n = 1,749) and whole exome sequencing of Caribbean Hispanic (CH) AD families...
June 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27103528/association-of-genetic-risk-factors-with-cognitive-decline-the-path-through-life-project
#15
Shea J Andrews, Debjani Das, Nicolas Cherbuin, Kaarin J Anstey, Simon Easteal
We examined the association of 28 single nucleotide polymorphisms (SNPs), previously associated with dementia or cognitive performance, with tests assessing episodic memory, working memory, vocabulary, and perceptual speed in 1689 nondemented older Australians of European ancestry. In addition to testing each variant individually, we assessed the collective association of the 12-risk SNPs for late-onset Alzheimer's disease using weighted and unweighted genetic risk scores. Significant associations with cognitive performance were observed for APOE ε4 allele, ABCA7-rs3764650, CR1-rs3818361, MS4A4E-rs6109332, BDNF-rs6265, COMT-rs4680, CTNNBL-rs6125962, FRMD4A-rs17314229, FRMD4A-rs17314229, intergenic SNP chrX-rs12007229, PDE7A-rs10808746, SORL1-rs668387, and ZNF224-rs3746319...
May 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27066581/overlap-between-parkinson-disease-and-alzheimer-disease-in-abca7-functional-variants
#16
Karen Nuytemans, Lizmarie Maldonado, Aleena Ali, Krista John-Williams, Gary W Beecham, Eden Martin, William K Scott, Jeffery M Vance
OBJECTIVE: Given their reported function in phagocytosis and clearance of protein aggregates in Alzheimer disease (AD), we hypothesized that variants in ATP-binding cassette transporter A7 (ABCA7) might be involved in Parkinson disease (PD). METHODS: ABCA7 variants were identified using whole-exome sequencing (WES) on 396 unrelated patients with PD and 222 healthy controls. In addition, we used the publicly available WES data from the Parkinson's Progression Markers Initiative (444 patients and 153 healthy controls) as a second, independent data set...
February 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27066559/alzheimer-risk-genes-modulate-the-relationship-between-plasma-apoe-and-cortical-pib-binding
#17
Andreas Lazaris, Kristy S Hwang, Naira Goukasian, Leslie M Ramirez, Jennifer Eastman, Anna E Blanken, Edmond Teng, Karen Gylys, Greg Cole, Andrew J Saykin, Leslie M Shaw, John Q Trojanowski, William J Jagust, Michael W Weiner, Liana G Apostolova
OBJECTIVE: We investigated the association between apoE protein plasma levels and brain amyloidosis and the effect of the top 10 Alzheimer disease (AD) risk genes on this association. METHODS: Our dataset consisted of 18 AD, 52 mild cognitive impairment, and 3 cognitively normal Alzheimer's Disease Neuroimaging Initiative 1 (ADNI1) participants with available [(11)C]-Pittsburgh compound B (PiB) and peripheral blood protein data. We used cortical pattern matching to study associations between plasma apoE and cortical PiB binding and the effect of carrier status for the top 10 AD risk genes...
October 2015: Neurology. Genetics
https://www.readbyqxmd.com/read/27037232/phenotypic-characteristics-of-alzheimer-patients-carrying-an-abca7-mutation
#18
Tobi Van den Bossche, Kristel Sleegers, Elise Cuyvers, Sebastiaan Engelborghs, Anne Sieben, Arne De Roeck, Caroline Van Cauwenberghe, Steven Vermeulen, Marleen Van den Broeck, Annelies Laureys, Karin Peeters, Maria Mattheijssens, Mathieu Vandenbulcke, Rik Vandenberghe, Jean-Jacques Martin, Peter P De Deyn, Patrick Cras, Christine Van Broeckhoven
OBJECTIVE: To generate a clinical and pathologic phenotype of patients carrying rare loss-of-function mutations in ABCA7, identified in a Belgian Alzheimer patient cohort and in an autosomal dominant family. METHODS: We performed a retrospective review of available data records, medical records, results of CSF analyses and neuroimaging studies, and neuropathology data. RESULTS: The mean onset age of the mutation carriers (n = 22) was 73.4 ± 8...
June 7, 2016: Neurology
https://www.readbyqxmd.com/read/27037231/rare-abca7-variants-in-alzheimer-disease-guilt-by-association
#19
EDITORIAL
Russell H Swerdlow
No abstract text is available yet for this article.
June 7, 2016: Neurology
https://www.readbyqxmd.com/read/27037229/abca7-rare-variants-and-alzheimer-disease-risk
#20
Kilan Le Guennec, Gaël Nicolas, Olivier Quenez, Camille Charbonnier, David Wallon, Céline Bellenguez, Benjamin Grenier-Boley, Stéphane Rousseau, Anne-Claire Richard, Anne Rovelet-Lecrux, Delphine Bacq, Jean-Guillaume Garnier, Robert Olaso, Anne Boland, Vincent Meyer, Jean-François Deleuze, Philippe Amouyel, Hans Markus Munter, Guillaume Bourque, Mark Lathrop, Thierry Frebourg, Richard Redon, Luc Letenneur, Jean-François Dartigues, Florence Pasquier, Adeline Rollin-Sillaire, Emmanuelle Génin, Jean-Charles Lambert, Didier Hannequin, Dominique Campion
OBJECTIVE: To study the association between ABCA7 rare coding variants and Alzheimer disease (AD) in a case-control setting. METHODS: We conducted a whole exome analysis among 484 French patients with early-onset AD and 590 ethnically matched controls. RESULTS: After collapsing rare variants (minor allele frequency ≤1%), we detected an enrichment of ABCA7 loss of function (LOF) and predicted damaging missense variants in cases (odds ratio [OR] 3...
June 7, 2016: Neurology
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