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REVIEW
Lena Duchateau, Nicole Wawrzyniak, Kristel Sleegers
Alzheimer's disease (AD) is a growing problem worldwide. Since ABCA7's identification as a risk gene, it has been extensively researched for its role in the disease. We review its recently characterized structure and what the mechanistic insights teach us about its function. We furthermore provide an overview of identified ABCA7 mutations, their presence in different ancestries and protein domains and how they might cause AD. For ABCA7 PTC variants and a VNTR expansion, haploinsufficiency is proposed as the most likely mode-of-action, although splice events could further influence disease risk...
March 31, 2024: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
#2
JOURNAL ARTICLE
Mei-Sing Ong, Joanne E Sordillo, Amber Dahlin, Michael McGeachie, Kelan Tantisira, Alberta L Wang, Jessica Lasky-Su, Murray Brilliant, Terrie Kitchner, Dan M Roden, Scott T Weiss, Ann Chen Wu
BACKGROUND: Although inhaled corticosteroids (ICS) are the first-line therapy for patients with persistent asthma, many patients continue to have exacerbations. We developed machine learning models to predict the ICS response in patients with asthma. METHODS: The subjects included asthma patients of European ancestry ( n = 1371; 448 children; 916 adults). A genome-wide association study was performed to identify the SNPs associated with ICS response. Using the SNPs identified, two machine learning models were developed to predict ICS response: (1) least absolute shrinkage and selection operator (LASSO) regression and (2) random forest...
February 25, 2024: Journal of Personalized Medicine
#3
JOURNAL ARTICLE
Guang Yang, Bing Zhang, Chun Yang Xu, Jia Wen Wu, Yi Zhang, Yue Yu, Xiao Gang He, Jun Dou
The neurodegenerative disorder known as Parkinson's disease (PD) affects many people. The objective of this investigation was to examine the relationship between immune system infiltration, ATP-binding cassette transporter subfamily A member 7 (ABCA7) and TBL2 as well as potential therapeutic targets for the identification of PD associated to endoplasmic reticulum (ER) stress. First, we obtained PD data through GEO and divided it into two sets: a training set (GSE8397) plus a set for validation (GSE7621). Functional enrichment analysis was performed on a set of DEGs that overlapped with genes involved in endoplasmic reticulum stress...
March 23, 2024: Molecular Neurobiology
#4
JOURNAL ARTICLE
Claire A Butler, Adrian Mendoza Arvilla, Giedre Milinkeviciute, Celia Da Cunha, Shimako Kawauchi, Narges Rezaie, Heidi Y Liang, Dominic Javonillo, Annie Thach, Shuling Wang, Sherilyn Collins, Amber Walker, Kai-Xuan Shi, Jonathan Neumann, Angela Gomez-Arboledas, Caden M Henningfield, Lindsay A Hohsfield, Mark Mapstone, Andrea J Tenner, Frank M LaFerla, Ali Mortazavi, Grant R MacGregor, Kim N Green
BACKGROUND: Variants in ABCA7, a member of the ABC transporter superfamily, have been associated with increased risk for developing late onset Alzheimer's disease (LOAD). METHODS: CRISPR-Cas9 was used to generate an Abca7V1613M variant in mice, modeling the homologous human ABCA7V1599M variant, and extensive characterization was performed. RESULTS: Abca7V1613M microglia show differential gene expression profiles upon lipopolysaccharide challenge and increased phagocytic capacity...
March 20, 2024: Alzheimer's & Dementia: the Journal of the Alzheimer's Association
#5
JOURNAL ARTICLE
Zhiwei Zhang, Yu Zhou, Qin Lv, Kun Gao, Zhiguo Li, Qing Miao, Li Shen
OBJECTIVE: The objective of this study is to investigate Gegen Qinlian decoction (GQD) effects on lipid metabolism and explore its mechanism for preventing and treating atherosclerosis. METHODS: An atherosclerotic rat model was established;, and after an 8-week high-fat diet, atherosclerosis and non-alcoholic fatty liver disease were assessed. Subsequently, GQD was administered at low and high doses. Histopathological aortic wall changes, hepatic lipid deposition, and blood lipid changes were evaluated...
March 13, 2024: Combinatorial Chemistry & High Throughput Screening
#6
REVIEW
G Nicolas
Research on Alzheimer disease (AD) genetics has provided critical advances to the knowledge of AD pathophysiological mechanisms. The etiology of AD can be divided into monogenic (autosomal dominant inheritance) and complex (multifactorial determinism). In monogenic AD, recent advances mainly concern mutation-associated mechanisms, presymptomatic clinical studies, and the search for modifiers of ages of onset that are still ongoing. In complex AD, genetic factors can be further categorized into three classes: (i) the APOE-ɛ4 and ɛ2 common alleles that represent a category by themselves as they are both common and with a strong impact on AD risk; (ii) common variants with a modest effect, identified in genome-wide association studies (GWAS); and (iii) rare variants with a moderate-to-strong effect, identified in case-control sequencing studies...
February 29, 2024: Revue Neurologique
#7
JOURNAL ARTICLE
Holly N Cukier, Shaina A Simon, Eugene Tang, Charles G Golightly, Mayra Juliana Laverde-Paz, Larry Deon Adams, Takiyah D Starks, Jeffery M Vance, Michael L Cuccaro, Jonathan L Haines, Goldie S Byrd, Margaret A Pericak-Vance, Derek M Dykxhoorn
The ATP-binding cassette, subfamily A (ABC1), member 7 (ABCA7) gene is associated with Alzheimer's disease (AD) risk in populations of African, Asian, and European ancestry1-5 . Numerous ABCA7 mutations contributing to risk have been identified, including a 44 base pair deletion (rs142076058) specific to individuals of African ancestry and predicted to cause a frameshift mutation (p.Arg578Alafs) (Cukier et al., 2016). The UMi043-A human induced pluripotent stem cell line was derived from an African American individual with AD who is heterozygous for this deletion and is a resource to further investigate ABCA7 and how this African-specific deletion may influence disease pathology...
February 25, 2024: Stem Cell Research
#8
JOURNAL ARTICLE
Gaël Nicolas, Aline Zaréa, Morgane Lacour, Olivier Quenez, Stéphane Rousseau, Anne-Claire Richard, Antoine Bonnevalle, Catherine Schramm, Robert Olaso, Florian Sandron, Anne Boland, Jean-François Deleuze, Daniela Andriuta, Pierre Anthony, Sophie Auriacombe, Anna-Chloé Balageas, Guillaume Ballan, Mélanie Barbay, Yannick Bejot, Serge Belliard, Marie Benaiteau, Karim Bennys, Stéphanie Bombois, Claire Boutoleau-Bretonniere, Pierre Branger, Jasmine Carlier, Leslie Cartz-Piver, Pascaline Cassagnaud, Mathieu-Pierre Ceccaldi, Valérie Chauvire, Yaohua Chen, Julien Cogez, Emmanuel Cognat, Fabienne Contegal-Callier, Lea Corneille, Philippe Couratier, Benjamin Cretin, Charlotte Crinquette, Benjamin Dauriat, Sophie Dautricourt, Vincent de la Sayette, Astrid de Liège, Didier Deffond, Florence Demurger, Vincent Deramecourt, Céline Derollez, Elsa Dionet, Martine Doco Fenzy, Julien Dumurgier, Anais Dutray, Frédérique Etcharry-Bouyx, Maïté Formaglio, Audrey Gabelle, Anne Gainche-Salmon, Olivier Godefroy, Mathilde Graber, Chloé Gregoire, Stephan Grimaldi, Julien Gueniat, Claude Gueriot, Virginie Guillet-Pichon, Sophie Haffen, Cezara-Roxana Hanta, Clemence Hardy, Geoffroy Hautecloque, Camille Heitz, Claire Hourregue, Thérèse Jonveaux, Snejana Jurici, Lejla Koric, Pierre Krolak-Salmon, Julien Lagarde, Hélène-Marie Lanoiselée, Brice Laurens, Isabelle Le Ber, Gwenaël Le Guyader, Amélie Leblanc, Thibaud Lebouvier, Richard Levy, Anaïs Lippi, Marie-Anne Mackowiak, Eloi Magnin, Cecilia Marelli, Olivier Martinaud, Aurelien Maureille, Raffaella Migliaccio, Emilie Milongo-Rigal, Sophie Mohr, Helene Mollion, Alexandre Morin, Julia Nivelle, Camille Noiray, Pauline Olivieri, Claire Paquet, Jérémie Pariente, Florence Pasquier, Alexandre Perron, Nathalie Philippi, Vincent Planche, Hélène Pouclet-Courtemanche, Marie Rafiq, Adeline Rollin-Sillaire, Carole Roué-Jagot, Dario Saracino, Marie Sarazin, Mathilde Sauvée, François Sellal, Marc Teichmann, Christel Thauvin, Quentin Thomas, Camille Tisserand, Cédric Turpinat, Laurène Van Damme, Olivier Vercruysse, Nicolas Villain, Nathalie Wagemann, Camille Charbonnier, David Wallon
PURPOSE: To assess the likely pathogenic/pathogenic (LP/P) variants rates in Mendelian dementia genes and the moderate-to-strong risk factors rates in patients with Alzheimer disease (AD). METHODS: We included 700 patients in a prospective study and performed exome sequencing. A panel of 28 Mendelian and 6 risk-factor genes was interpreted and returned to patients. We built a framework for risk variant interpretation and risk gradation and assessed the detection rates among early-onset AD (EOAD, age of onset (AOO) ≤65 years, n=608) depending on AOO and pedigree structure and late-onset AD (LOAD, 66<AOO<75, n=92)...
January 24, 2024: Genetics in Medicine: Official Journal of the American College of Medical Genetics
#9
Hüseyin Tayran, Elanur Yilmaz, Prabesh Bhattarai, Yuhao Min, Xue Wang, Yiyi Ma, Nastasia Nelson, Nada Kassara, Mehmet Ilyas Cosacak, Ruya Merve Dogru, Dolly Reyes-Dumeyer, Joseph S Reddy, Min Qiao, Delaney Flaherty, Andrew F Teich, Tamil Iniyan Gunasekaran, Zikun Yang, Giuseppe Tosto, Badri N Vardarajan, Özkan İş, Nilüfer Ertekin-Taner, Richard Mayeux, Caghan Kizil
Alzheimer's disease (AD) remains a complex challenge characterized by cognitive decline and memory loss. Genetic variations have emerged as crucial players in the etiology of AD, enabling hope for a better understanding of the disease mechanisms; yet the specific mechanism of action for those genetic variants remain uncertain. Animal models with reminiscent disease pathology could uncover previously uncharacterized roles of these genes. Using CRISPR/Cas9 gene editing, we generated a knockout model for abca7, orthologous to human ABCA7 - an established AD-risk gene...
January 2, 2024: bioRxiv
#10
REVIEW
Kaden L Nystuen, Shannon M McNamee, Monica Akula, Kristina M Holton, Margaret M DeAngelis, Neena B Haider
Alzheimer's Disease (AD) is a complex neurodegenerative disease resulting in progressive loss of memory, language and motor abilities caused by cortical and hippocampal degeneration. This review captures the landscape of understanding of AD pathology, diagnostics, and current therapies. Two major mechanisms direct AD pathology: (1) accumulation of amyloid β (Aβ) plaque and (2) tau-derived neurofibrillary tangles (NFT). The most common variants in the Aβ pathway in APP , PSEN1, and PSEN2 are largely responsible for early-onset AD (EOAD), while MAPT , APOE , TREM2 and ABCA7 have a modifying effect on late-onset AD (LOAD)...
January 1, 2024: Bioengineering
#11
JOURNAL ARTICLE
Fanjing Kong, Tianyu Wu, Jingyi Dai, Jie Cai, Zhenwei Zhai, Zhishan Zhu, Ying Xu, Tao Sun
OBJECTIVES: Alzheimer's disease (AD) is a neurodegenerative disorder characterized by a progressive decline in cognitive and behavioral function. Studies have shown that genetic factors are one of the main causes of AD risk. genome-wide association study (GWAS), as a novel and effective tool for studying the genetic risk of diseases, has attracted attention from researchers in recent years and a large number of studies have been conducted. This study aims to summarize the literature on GWAS in AD by bibliometric methods, analyze the current status, research hotspots and future trends in this field...
2024: PloS One
#12
JOURNAL ARTICLE
Guilherme da Silva Rodrigues, Natália Yumi Noronha, Isabella Harumi Yonehara Noma, João Gabriel Ribeiro de Lima, Andressa Crystine da Silva Sobrinho, Marcela Augusta de Souza Pinhel, Mariana Luciano de Almeida, Lígia Moriguchi Watanabe, Carla Barbosa Nonino, Carlos Roberto Bueno Júnior
Exercise training emerges as a key strategy in lifestyle modification, capable of reducing the risk of developing Alzheimer's disease (AD) due to risk factors such as age, family history, genetics and low level of education associated with AD. We aim to analyze the effect of a 14-week combined exercise training (CT) on the methylation of genes associated with AD in non-alzheimer's disease women. CT sessions lasted 60 min, occurring three times a week for 14 weeks. Forty non-Alzheimer's disease women aged 50 to 70 years (60...
January 15, 2024: Experimental Gerontology
#13
Tamil Iniyan Gunasekaran, Dolly Reyes-Dumeyer, Kelley M Faber, Alison Goate, Brad Boeve, Carlos Cruchaga, Margaret Pericak-Vance, Jonathan L Haines, Roger Rosenberg, Debby Tsuang, Diones Rivera Mejia, Martin Medrano, Rafael A Lantigua, Robert A Sweet, David A Bennett, Robert S Wilson, Tatiana Foroud, Badri N Vardarajan, Richard Mayeux
PURPOSE: Few rare pathogenic variants have been identified in the 70+ genetic loci from genome wide association studies of late-onset Alzheimer's disease (AD), limiting research on underlying mechanisms, risk assessment, and genetic counseling. METHODS: Using genome sequencing data from 197 families in The National Institute on Aging Alzheimer's Disease Family Based Study (AD-FBS), and 214 families in The Estudio Familiar de la Influencia Genética en Alzheimer (EFIGA), we characterized rare coding variants predicted to highly damaging missense or loss of function variants (LoF) within known GWAS loci...
December 18, 2023: medRxiv
#14
JOURNAL ARTICLE
Mohammad Housini, Zhengyang Zhou, John Gutierrez, Sumedha Rao, Rodwan Jomaa, Kumudu Subasinghe, Danielle Marie Reid, Talisa Silzer, Nicole Phillips, Sid O'Bryant, Robert Clinton Barber
INTRODUCTION : Here we evaluate frequencies of the top 10 Alzheimer's disease (AD) risk alleles for late-onset AD in Mexican American (MA) and non-Hispanic White (NHW) American participants enrolled in the Health and Aging Brain Study-Health Disparities Study cohort. METHODS : Using DNA extracted from this community-based diverse population, we calculated the genotype frequencies in each population to determine whether a significant difference is detected between the different ethnicities. DNA genotyping was performed per manufacturers' protocols...
2023: Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring
#15
JOURNAL ARTICLE
Keiji Kawatani, Marie-Louise Holm, Skylar C Starling, Yuka A Martens, Jing Zhao, Wenyan Lu, Yingxue Ren, Zonghua Li, Peizhou Jiang, Yangying Jiang, Samantha K Baker, Ni Wang, Bhaskar Roy, Tammee M Parsons, Ralph B Perkerson, Hanmei Bao, Xianlin Han, Guojun Bu, Takahisa Kanekiyo
ABCA7 loss-of-function variants are associated with increased risk of Alzheimer's disease (AD). Using ABCA7 knockout human iPSC models generated with CRISPR/Cas9, we investigated the impacts of ABCA7 deficiency on neuronal metabolism and function. Lipidomics revealed that mitochondria-related phospholipids, such as phosphatidylglycerol and cardiolipin were reduced in the ABCA7-deficient iPSC-derived cortical organoids. Consistently, ABCA7 deficiency-induced alterations of mitochondrial morphology accompanied by reduced ATP synthase activity and exacerbated oxidative damage in the organoids...
December 22, 2023: Molecular Psychiatry
#16
JOURNAL ARTICLE
Mark A Gluck, Joshua L Gills, Bernadette A Fausto, Steven K Malin, Paul R Duberstein, Kirk I Erickson, Liangyuan Hu
INTRODUCTION: African Americans are two to three times more likely to be diagnosed with Alzheimer's disease (AD) compared to White Americans. Exercise is a lifestyle behavior associated with neuroprotection and decreased AD risk, although most African Americans, especially older adults, perform less than the recommended 150 min/week of moderate-to-vigorous intensity exercise. This article describes the protocol for a Phase III randomized controlled trial that will examine the effects of cardio-dance aerobic exercise on novel AD cognitive and neural markers of hippocampal-dependent function (Aims #1 and #2) and whether exercise-induced neuroprotective benefits may be modulated by an AD genetic risk factor, ABCA7 rs3764650 (Aim #3)...
2023: Frontiers in Aging Neuroscience
#17
JOURNAL ARTICLE
Yanfei Ding, Haijuan Chen, Yi Yan, Yinghui Qiu, Aonan Zhao, Binyin Li, Wei Xu, Yulei Deng
BACKGROUND: Alzheimer's disease (AD) is a multi-gene inherited disease, and apolipoprotein E ( APOE ) ɛ4 is a strong risk factor. Other genetic factors are important but limited. OBJECTIVE: This study aimed to investigate the relationship between 17 single-nucleotide polymorphisms (SNPs) and AD in the Southern Chinese populations. METHODS: We recruited 242 AD patients and 208 controls. The SNaPshot technique was used to detect the SNPs...
2023: JAD Reports
#18
JOURNAL ARTICLE
Lena Duchateau, Fahri Küҫükali, Arne De Roeck, Mandy M J Wittens, Joke Temmerman, Ilse Weets, Maarten Timmers, Sebastiaan Engelborghs, Maria Bjerke, Kristel Sleegers
BACKGROUND: The Alzheimer's disease (AD) risk gene ABCA7 has suggested functions in lipid metabolism and the immune system. Rare premature termination codon (PTC) mutations and an expansion of a variable number of tandem repeats (VNTR) polymorphism in the gene, both likely cause a lower ABCA7 expression and hereby increased risk for AD. However, the exact mechanism of action remains unclear. By studying CSF biomarkers reflecting different types of AD-related pathological processes, we aim to get a better insight in those processes and establish a biomarker profile of mutation carriers...
November 9, 2023: Alzheimer's Research & Therapy
#19
YoungSoon Yang, Eva Bagyinszky, Seong Soo A An
In this manuscript, we introduced a French EOAD patient in Korea who carried the presenilin-1 ( PSEN1 ) Glu318Gly mutations with four possible risk variants, including sortilin-related receptor 1 ( SORL1 ) Glu270Lys, ATP-binding cassette subfamily A member 7 ( ABCA7 ) Val1946Met, translocase of outer mitochondrial membrane 40 ( TOMM40 ) Arg239Trp, and granulin ( GRN ) Ala505Gly. The patient started to present memory decline and behavioral dysfunction in his early 60s. His brain imaging presented amyloid deposits by positron emission tomography (PET-CT)...
October 23, 2023: International Journal of Molecular Sciences
#20
Wan-Ping Lee, Hui Wang, Beth Dombroski, Po-Liang Cheng, Albert Tucci, Ya-Qin Si, John Farrell, Jung-Ying Tzeng, Yuk Yee Leung, John Malamon, Li-San Wang, Badri Vardarajan, Lindsay Farrer, Gerard Schellenberg, The Alzheimer's Disease Sequencing Project The Alzheimer's D Project
Structural variations (SVs) are important contributors to the genetics of human diseases. However, their role in Alzheimer's disease (AD) remains largely unstudied due to challenges in accurately detecting SVs. We analyzed whole-genome sequencing data from the Alzheimer's Disease Sequencing Project (N = 16,905) and identified 400,234 (168,223 high-quality) SVs. Laboratory validation yielded a sensitivity of 82% (85% for high-quality). We found a significant burden of deletions and duplications in AD cases, particularly for singletons and homozygous events...
October 5, 2023: Research Square
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