Mutations in the and genes have provided direct evidence for the central role of aberrant amyloid β (Aβ) peptide production in familial Alzheimer's disease (AD). Newly identified risk factors will further help us to unravel how derailed physiological and cell biological processes lead to identical pathogenesis in late‐onset AD (LOAD). Ubelmann now unveil in this issue how two of such risk factors, Bin1 and CD2AP, regulate the encounter of APP and BACE1 in axonal and dendritic endosomes, emphasizing endosomal transport balance as a critical factor in AD pathogenesis 1.
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http://dx.doi.org/10.15252/embr.201643634 | DOI Listing |
J Neurochem
January 2025
Beijing Institute of Brain Disorders, Laboratory of Brain Disorders, Ministry of Science and Technology, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China.
To date, several studies have integrated genome-wide association studies (GWAS) and expression quantitative trait loci (eQTL) data from bulk tissues to identify novel Alzheimer's disease (AD) genetic variants and susceptibility genes. However, there is highly cell-type-specific nature in different bulk eQTL data. Until now, eQTL data from different brain single cells have been reported.
View Article and Find Full Text PDFPeerJ
May 2024
School of Allied Health Sciences, College of Graduate Studies, Walailak University, Nakhon Si Thammarat, Thailand.
Background: Alzheimer's disease (AD) is one of the multifaceted neurodegenerative diseases influenced by many genetic and epigenetic factors. Genetic factors are merely not responsible for developing AD in the whole population. The studies of genetic variants can provide significant insights into the molecular basis of Alzheimer's disease.
View Article and Find Full Text PDFPhilos Trans R Soc Lond B Biol Sci
April 2024
Cardiff University, Dementia Research Institute, Cardiff University¸ Cardiff, CF24 4HQ, UK.
Endocytosis is a key cellular pathway required for the internalization of cellular nutrients, lipids and receptor-bound cargoes. It is also critical for the recycling of cellular components, cellular trafficking and membrane dynamics. The endocytic pathway has been consistently implicated in Alzheimer's disease (AD) through repeated genome-wide association studies and the existence of rare coding mutations in endocytic genes.
View Article and Find Full Text PDFZh Nevrol Psikhiatr Im S S Korsakova
October 2023
Research Center of Neurology, Moscow, Russia.
Objective: To identify the role of changes in the expression of inflammation-related genes in cerebral microangiopathy/cerebral small vessel disease (cSVD).
Material And Methods: Forty-four cSVD patients (mean age 61.4±9.
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