Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11740521 | PMC |
| http://dx.doi.org/10.1186/s40035-024-00464-3 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Correction: CD2AP deficiency aggravates Alzheimer's disease phenotypes and pathology through p38 MAPK activation.
Transl Neurodegener
January 2025
Department of Neurology, The Second Afliated Hospital, Zhejiang University School of Medicine and Liangzhu Laboratory, 88 Jiefang Road, Hangzhou, 310009, China.
An integrated genome and phenome-wide association study approach to understanding Alzheimer's disease predisposition.
Neurobiol Aging
October 2022
Division of Neuro-epidemiology, Department of Neurosurgery, Duke University, Durham, NC, USA; Children's Health and Discovery Initiative, Department of Pediatrics, Duke University, Durham, NC, USA; Center for the Study of Aging and Human Development, Duke University, Durham, NC, USA. Electronic address:
Genome-wide association studies (GWAS) have identified common single nucleotide polymorphisms (SNPs) that increase late-onset Alzheimer's disease (LOAD) risk. To identify additional LOAD-associated variants and provide insight into underlying disease biology, we performed a phenome-wide association study on 23 known LOAD-associated SNPs and 4:1 matched control SNPs using UK Biobank data. LOAD-associated SNPs were significantly enriched for associations with 8/778 queried traits, including 3 platelet traits.
View Article and Find Full Text PDFAssociation of the CD2AP locus with cognitive functioning among middle-aged individuals with a family history of Alzheimer's disease.
Neurobiol Aging
May 2021
The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel. Electronic address:
First-degree family history is an established risk factor for Alzheimer's disease (AD). We investigated the association of late-onset AD risk loci with cognitive functioning among 315 offspring of AD patients. Participants were cognitively normal Jewish individuals, aged 40-65 years, from the Israel Registry for Alzheimer's Prevention (IRAP) study.
View Article and Find Full Text PDFCD2AP links actin to PI3 kinase activity to extend epithelial cell height and constrain cell area.
J Cell Biol
January 2020
Department of Cell and Developmental Biology, University of Illinois, Urbana-Champaign, Urbana, IL.
Maintaining the correct ratio of apical, basal, and lateral membrane domains is important for epithelial physiology. Here, we show that CD2AP is a critical determinant of epithelial membrane proportions. Depletion of CD2AP or phosphoinositide 3-kinase (PI3K) inhibition results in loss of F-actin and expansion of apical-basal domains, which comes at the expense of lateral membrane height in MDCK cells.
View Article and Find Full Text PDFTargeted genetic analysis of cerebral blood flow imaging phenotypes implicates the INPP5D gene.
Neurobiol Aging
September 2019
Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:
The vascular hypothesis of Alzheimer's disease (AD) has proposed the involvement of brain hypoperfusion in AD pathogenesis, where cognitive decline and dysfunction result from dwindling cerebral blood flow (CBF). Based on the vascular hypothesis of Alzheimer's disease, we focused on exploring how genetic factors influence AD pathogenesis via the cerebrovascular system. To investigate the role of CBF endophenotypes in AD pathogenesis, we performed a targeted genetic analysis of 258 subjects from the Alzheimer's Disease Neuroimaging Initiative cohort to examine associations between 4033 single-nucleotide polymorphisms of 24 AD genes and CBF measures in 4 brain regions.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!