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https://www.readbyqxmd.com/read/28577227/-search-for-risk-genes-in-alzheimer-s-disease
#1
REVIEW
I Karaca, H Wagner, A Ramirez
Alzheimer's disease (AD) is the most common form of neurodegenerative dementia. The susceptibility to AD is determined by a complex interaction between genetic, epigenetic, and environmental factors. Herein, the risk that can be attributed to genetic factors is high (up to 80%). While most AD patients are sporadic, in rare families Mendelian mode of inheritance can be observed. In these rare familial cases, full penetrant mutations have been identified in APP, PSEN1, and PSEN2. Mutations in these three genes are however rarely found in sporadic AD...
June 2, 2017: Der Nervenarzt
https://www.readbyqxmd.com/read/28556232/decreased-plasma-%C3%AE-amyloid-in-the-alzheimer-s-disease-app-a673t-variant-carriers
#2
Henna Martiskainen, Sanna-Kaisa Herukka, Alena Stančáková, Jussi Paananen, Hilkka Soininen, Johanna Kuusisto, Markku Laakso, Mikko Hiltunen
We investigated the association of Alzheimer's disease-related rare variants APP A673T and ABCA7 rs200538373-C with the levels of β-amyloid (Aβ) and parameters of metabolic and cardiovascular health in a population-based cohort of healthy middle-aged and elderly men. Carriers of protective APP A673T variant had on average 28% lower levels of Aβ40 and Aβ42 in plasma as compared to the controls and the carriers of ABCA7 rs200538373-C. This is the first report to show decreased Aβ levels in plasma in APP A673T carriers and thus provides evidence that lower Aβ levels throughout the life may be protective against Alzheimer's disease...
May 26, 2017: Annals of Neurology
https://www.readbyqxmd.com/read/28549481/late-onset-alzheimer-s-disease-genetics-implicates-microglial-pathways-in-disease-risk
#3
REVIEW
Anastasia G Efthymiou, Alison M Goate
Alzheimer's disease (AD) is a highly heritable complex disease with no current effective prevention or treatment. The majority of drugs developed for AD focus on the amyloid cascade hypothesis, which implicates Aß plaques as a causal factor in the disease. However, it is possible that other underexplored disease-associated pathways may be more fruitful targets for drug development. Findings from gene network analyses implicate immune networks as being enriched in AD; many of the genes in these networks fall within genomic regions that contain common and rare variants that are associated with increased risk of developing AD...
May 26, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28480329/african-american-exome-sequencing-identifies-potential-risk-variants-at-alzheimer-disease-loci
#4
Aurelie N'Songo, Minerva M Carrasquillo, Xue Wang, Jeremy D Burgess, Thuy Nguyen, Yan W Asmann, Daniel J Serie, Steven G Younkin, Mariet Allen, Otto Pedraza, Ranjan Duara, Maria T Greig Custo, Neill R Graff-Radford, Nilüfer Ertekin-Taner
OBJECTIVE: In African Americans, we sought to systematically identify coding Alzheimer disease (AD) risk variants at the previously reported AD genome-wide association study (GWAS) loci genes. METHODS: We identified coding variants within genes at the 20 published AD GWAS loci by whole-exome sequencing of 238 African American participants, validated these in 300 additional participants, and tested their association with AD risk in the combined cohort of 538 and with memory endophenotypes in 319 participants...
April 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28477215/validating-gwas-variants-from-microglial-genes-implicated-in-alzheimer-s-disease
#5
Lígia Ramos Dos Santos, Lúcia Helena Sagrillo Pimassoni, Geralda Gillian Silva Sena, Daniela Camporez, Luciano Belcavello, Maíra Trancozo, Renato Lírio Morelato, Flavia Imbroisi Valle Errera, Maria Rita Passos Bueno, Flavia de Paula
Late-onset Alzheimer's disease (LOAD) is a multifactorial neurodegenerative disorder that corresponds to most Alzheimer's disease (AD) cases. Inflammation is frequently related to AD, whereas microglial cells are the major phagocytes in the brain and mediate the removal of Aβ peptides. Microglial cell dsyregulation might contribute to the formation of amyloid plaques, a hallmark of AD. Genome-wide association studies have reported genetic loci associated with the inflammatory pathway involved in AD. Among them, rs3865444 CD33, rs3764650 ABCA7, rs6656401 CR1, and rs610932 MS4A6A variants in microglial genes are associated with LOAD...
June 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28447221/deleterious-abca7-mutations-and-transcript-rescue-mechanisms-in-early-onset-alzheimer-s-disease
#6
Arne De Roeck, Tobi Van den Bossche, Julie van der Zee, Jan Verheijen, Wouter De Coster, Jasper Van Dongen, Lubina Dillen, Yalda Baradaran-Heravi, Bavo Heeman, Raquel Sanchez-Valle, Albert Lladó, Benedetta Nacmias, Sandro Sorbi, Ellen Gelpi, Oriol Grau-Rivera, Estrella Gómez-Tortosa, Pau Pastor, Sara Ortega-Cubero, Maria A Pastor, Caroline Graff, Håkan Thonberg, Luisa Benussi, Roberta Ghidoni, Giuliano Binetti, Alexandre de Mendonça, Madalena Martins, Barbara Borroni, Alessandro Padovani, Maria Rosário Almeida, Isabel Santana, Janine Diehl-Schmid, Panagiotis Alexopoulos, Jordi Clarimon, Alberto Lleó, Juan Fortea, Magda Tsolaki, Maria Koutroumani, Radoslav Matěj, Zdenek Rohan, Peter De Deyn, Sebastiaan Engelborghs, Patrick Cras, Christine Van Broeckhoven, Kristel Sleegers
Premature termination codon (PTC) mutations in the ATP-Binding Cassette, Sub-Family A, Member 7 gene (ABCA7) have recently been identified as intermediate-to-high penetrant risk factor for late-onset Alzheimer's disease (LOAD). High variability, however, is observed in downstream ABCA7 mRNA and protein expression, disease penetrance, and onset age, indicative of unknown modifying factors. Here, we investigated the prevalence and disease penetrance of ABCA7 PTC mutations in a large early onset AD (EOAD)-control cohort, and examined the effect on transcript level with comprehensive third-generation long-read sequencing...
April 27, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/28428742/a-set-based-mixed-effect-model-for-gene-environment-interaction-and-its-application-to-neuroimaging-phenotypes
#7
Changqing Wang, Jianping Sun, Bryan Guillaume, Tian Ge, Derrek P Hibar, Celia M T Greenwood, Anqi Qiu
Imaging genetics is an emerging field for the investigation of neuro-mechanisms linked to genetic variation. Although imaging genetics has recently shown great promise in understanding biological mechanisms for brain development and psychiatric disorders, studying the link between genetic variants and neuroimaging phenotypes remains statistically challenging due to the high-dimensionality of both genetic and neuroimaging data. This becomes even more challenging when studying gene-environment interaction (G×E) on neuroimaging phenotypes...
2017: Frontiers in Neuroscience
https://www.readbyqxmd.com/read/28408706/embryo-culture-in-presence-of-oviductal-fluid-induces-dna-methylation-changes-in-bovine-blastocysts
#8
Antonio Daniel Barrera, Elina Vanesa García, Meriem Hamdi, Maria-Jesús Sánchez Calabuig, Angela Patricia Lopez-Cardona, Noelia Fonseca Balvís, Dimitrios Rizos, Alfonso Gutierrez-Adan
During the transit through the oviduct, the early embryo initiates an extensive DNA methylation reprogramming of its genome. Given that these epigenetic modifications are susceptible to environmental factors, components present in the oviductal milieu could affect the DNA methylation marks of the developing embryo. The aim of this study was to examine if culture of bovine embryos with oviductal fluid (OF) can induce DNA methylation changes at specific genomic regions in the resulting blastocysts. In vitro produced zygotes were cultured in medium with 3 mg/mL bovine serum albumin (BSA) or 1...
April 13, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28400126/targeted-sequencing-of-abca7-identifies-splicing-stop-gain-and-intronic-risk-variants-for-alzheimer-disease
#9
B W Kunkle, R M Carney, M A Kohli, A C Naj, K L Hamilton-Nelson, P L Whitehead, L Wang, R Lang, M L Cuccaro, J M Vance, G S Byrd, G W Beecham, J R Gilbert, E R Martin, J L Haines, M A Pericak-Vance
Several variants in the gene ABCA7 have been identified as potential causal variants for late-onset Alzheimer's disease (LOAD). In order to replicate these findings, and search for novel causal variants, we performed targeted sequencing of this gene in cohorts of non-Hispanic White (NHW) and African-American (AA) LOAD cases and controls. We sequenced the gene ABCA7 in 291 NHW LOAD cases and 103 controls. Variants were prioritized for rare, damaging variants and previously reported variants associated with LOAD, and were follow-up genotyped in 4076 NHW and 1157 AA cases and controls...
April 8, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28373057/lysophosphatidylcholine-export-by-human-abca7
#10
Maiko Tomioka, Yoshinobu Toda, Noralyn B Mañucat, Hiroyasu Akatsu, Manabu Fukumoto, Nozomu Kono, Hiroyuki Arai, Noriyuki Kioka, Kazumitsu Ueda
The ATP-binding cassette transporter A7 (ABCA7), which is highly expressed in the brain, is associated with the pathogenesis of Alzheimer's disease (AD). However, the physiological function of ABCA7 and its transport substrates remain unclear. Immunohistochemical analyses of human brain sections from AD and non-AD subjects revealed that ABCA7 is expressed in neuron and microglia cells in the cerebral cortex. The transport substrates and acceptors were identified in BHK/ABCA7 cells and compared with those of ABCA1...
March 31, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28341646/cardiorespiratory-fitness-alters-the-influence-of-a-polygenic-risk-score-on-biomarkers-of-ad
#11
Stephanie A Schultz, Elizabeth A Boots, Burcu F Darst, Henrik Zetterberg, Kaj Blennow, Dorothy F Edwards, Rebecca L Koscik, Cynthia M Carlsson, Catherine L Gallagher, Barbara B Bendlin, Sanjay Asthana, Mark A Sager, Kirk J Hogan, Bruce P Hermann, Dane B Cook, Sterling C Johnson, Corinne D Engelman, Ozioma C Okonkwo
OBJECTIVE: To examine whether a polygenic risk score (PRS) derived from APOE4, CLU, and ABCA7 is associated with CSF biomarkers of Alzheimer disease (AD) pathology and whether higher cardiorespiratory fitness (CRF) modifies the association between the PRS and CSF biomarkers. METHODS: Ninety-five individuals from the Wisconsin Registry for Alzheimer's Prevention were included in these cross-sectional analyses. They were genotyped for APOE4, CLU, and ABCA7, from which a PRS was calculated for each participant...
April 25, 2017: Neurology
https://www.readbyqxmd.com/read/28269768/late-onset-alzheimer-s-disease-risk-variants-in-cognitive-decline-the-path-through-life-study
#12
Shea J Andrews, Debjani Das, Kaarin J Anstey, Simon Easteal
Recent genome wide association studies have identified a number of single nucleotide polymorphisms associated with late onset Alzheimer's disease (LOAD). We examined the associations of 24 LOAD risk loci, individually and collectively as a genetic risk score, with cognitive function. We used data from 1,626 non-demented older Australians of European ancestry who were examined up to four times over 12 years on tests assessing episodic memory, working memory, vocabulary, and information processing speed. Linear mixed models were generated to examine associations between genetic factors and cognitive performance...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28222527/gene-expression-and-methylation-analysis-of-abca7-in-patients-with-alzheimer-s-disease
#13
Kiyohiro Yamazaki, Yuta Yoshino, Takaaki Mori, Taku Yoshida, Yuki Ozaki, Tomoko Sao, Yoko Mori, Shinichiro Ochi, Jun-Ichi Iga, Shu-Ichi Ueno
BACKGROUND/OBJECTIVE: The aim of this study was to examine the blood gene expression and methylation of ATP-binding cassette sub-family A member 7 gene (ABCA7) as a biological marker of AD. METHODS: AD subjects (n = 50; 11 males, 77.7±6.05 years old) and age- and sex-matched healthy controls (n = 50) were recruited. A single nucleotide polymorphism in ABCA7 (rs3764650), methylation rates of CpG sites in the ABCA7 promoter region, and ABCA7 mRNA expression levels in peripheral blood were examined...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28205181/abc-transporter-mediated-sterol-export-from-cells-using-radiolabeled-sterols
#14
Alryel Yang, Ingrid C Gelissen
Cholesterol export from cells to extracellular acceptors represents the first step of the reverse cholesterol transport process and is an essential part of the multifaceted pathway for cells to control their cholesterol levels. Malfunction of this pathway leads to cholesterol accumulation in cells such as macrophages, which can form the basis of conditions like atherosclerosis. A number of ATP-binding cassette (ABC) transporters, namely ABCA1, ABCA7, ABCG1, and ABCG4, play an essential role in this process...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28199971/association-and-interaction-effects-of-alzheimer-s-disease-associated-genes-and-lifestyle-on-cognitive-aging-in-older-adults-in-a-taiwanese-population
#15
Eugene Lin, Shih-Jen Tsai, Po-Hsiu Kuo, Yu-Li Liu, Albert C Yang, Chung-Feng Kao
Genome-wide association studies and meta-analyses implicated that increased risk of developing Alzheimer's diseases (AD) has been associated with the ABCA7, APOE, BIN1, CASS4, CD2AP, CD33, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB1, HLA-DRB4, INPP5D, MEF2C, MS4A4A, MS4A4E, MS4A6E, NME8, PICALM, PLD3, PTK2B, RIN3, SLC24A4, SORL1, and ZCWPW1 genes. In this study, we assessed whether single nucleotide polymorphisms (SNPs) within these 27 AD-associatedgenes are linked with cognitive aging independently and/or through complex interactions in an older Taiwanese population...
April 11, 2017: Oncotarget
https://www.readbyqxmd.com/read/28124230/study-on-lentivirus-mediated-abca7-improves-neurocognitive-function-and-related-mechanisms-in-the-c57bl-6-mouse-model-of-alzheimer-s-disease
#16
Mengqian Li, Yefeng Yuan, Bo Hu, Lei Wu
ATP-binding cassette transporter A7 (ABCA7) is expressed in the hippocampus and cortex of the brain and was confirmed to be involved in the development of Alzheimer's disease (AD). Previous studies have demonstrated that ABCA7 regulated Aβ production, lipid transport, leading to AD characteristic pathological changes. However, the role and mechanism of ABCA7 in the context of AD needs further research. We augmented the expression of ABCA7 using lentiviral vector carrying ABCA7 gene to investigate the effect of ABCA7 overexpression on AD mice; then, we further explored the underlying mechanism in vitro...
April 2017: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/28097223/abca7-loss-of-function-variants-expression-and-neurologic-disease-risk
#17
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
#18
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
#19
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
#20
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
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