Results 51 to 60 of about 277,634 (194)

Structural variants linked to Alzheimer’s disease and other common age-related clinical and neuropathologic traits

Genome Medicine
Background Alzheimer’s disease (AD) is a complex neurodegenerative disorder with substantial genetic influence. While genome-wide association studies (GWAS) have identified numerous risk loci for late-onset AD (LOAD), the functional mechanisms underlying
Ricardo A. Vialle, Katia de Paiva Lopes, Yan Li, Bernard Ng, Julie A. Schneider, Aron S. Buchman, Yanling Wang, Jose M. Farfel, Lisa L. Barnes, Aliza P. Wingo, Thomas S. Wingo, Nicholas T. Seyfried, Philip L. De Jager, Chris Gaiteri, Shinya Tasaki, David A. Bennett   +15 more
doaj   +1 more source

Targeted stabilization of Munc18‐1 function via pharmacological chaperones

EMBO Molecular Medicine, 2020
Heterozygous de novo mutations in the neuronal protein Munc18‐1 cause syndromic neurological symptoms, including severe epilepsy, intellectual disability, developmental delay, ataxia, and tremor.
Debra Abramov, Noah Guy Lewis Guiberson, Andrew Daab, Yoonmi Na, Gregory A Petsko, Manu Sharma, Jacqueline Burré   +6 more
doaj   +1 more source

Differential gene expression analysis based on linear mixed model corrects false positive inflation for studying quantitative traits

Scientific Reports, 2023
Differential gene expression (DGE) analysis has been widely employed to identify genes expressed differentially with respect to a trait of interest using RNA sequencing (RNA-Seq) data.
Shizhen Tang, Aron S. Buchman, Yanling Wang, Denis Avey, Jishu Xu, Shinya Tasaki, David A. Bennett, Qi Zheng, Jingjing Yang   +8 more
doaj   +1 more source

Quick assessment for systematic test statistic inflation/deflation due to null model misspecifications in genome-wide environment interaction studies.

PLoS ONE, 2019
Gene-environment (GxE) interaction is one potential explanation for the missing heritability problem. A popular approach to genome-wide environment interaction studies (GWEIS) is based on regression models involving interactions between genetic variants ...
Masao Ueki, Masahiro Fujii, Gen Tamiya, for Alzheimer’s Disease Neuroimaging Initiative and the Alzheimer’s Disease Metabolomics Consortium   +3 more
doaj   +1 more source

Leveraging football accelerometer data to quantify associations between repetitive head impacts and chronic traumatic encephalopathy in males

Nature Communications, 2023
Chronic traumatic encephalopathy (CTE) is a neurodegenerative tauopathy associated with repetitive head impacts (RHI), but the components of RHI exposure underlying this relationship are unclear.
Daniel H. Daneshvar, Evan S. Nair, Zachary H. Baucom, Abigail Rasch, Bobak Abdolmohammadi, Madeline Uretsky, Nicole Saltiel, Arsal Shah, Johnny Jarnagin, Christine M. Baugh, Brett M. Martin, Joseph N. Palmisano, Jonathan D. Cherry, Victor E. Alvarez, Bertrand R. Huber, Jennifer Weuve, Christopher J. Nowinski, Robert C. Cantu, Ross D. Zafonte, Brigid Dwyer, John F. Crary, Lee E. Goldstein, Neil W. Kowall, Douglas I. Katz, Robert A. Stern, Yorghos Tripodis, Thor D. Stein, Michael D. McClean, Michael L. Alosco, Ann C. McKee, Jesse Mez   +30 more
doaj   +1 more source

Acid sphingomyelinase as a pathological and therapeutic target in neurological disorders: focus on Alzheimer’s disease

Experimental and Molecular Medicine
Over the past decade, numerous studies have highlighted the importance of acid sphingomyelinase (ASM) in disease treatment in humans. This enzyme functions primarily to generate ceramide, maintain the cellular membrane, and regulate cellular function ...
Byung Jo Choi, Min Hee Park, Hee Kyung Jin, Jae-sung Bae   +3 more
doaj   +1 more source

Revealing heterogeneity of brain imaging phenotypes in Alzheimer's disease based on unsupervised clustering of blood marker profiles.

PLoS ONE, 2019
Alzheimer's disease (AD) affects millions of people and is a major rising problem in health care worldwide. Recent research suggests that AD could have different subtypes, presenting differences in how the disease develops.
Gerard Martí-Juan, Gerard Sanroma, Gemma Piella, Alzheimer’s Disease Neuroimaging Initiative and the Alzheimer’s Disease Metabolomics Consortium   +3 more
doaj   +1 more source

Effects of APOE4 allelic dosage on lipidomic signatures in the entorhinal cortex of aged mice

Translational Psychiatry, 2022
Apolipoprotein E ε4 (APOE4) is the primary genetic risk factor for the late-onset form of Alzheimer’s disease (AD). Although the reason for this association is not completely understood, researchers have uncovered numerous effects of APOE4 expression on ...
André Miguel Miranda, Archana Ashok, Robin Barry Chan, Bowen Zhou, Yimeng Xu, Laura Beth McIntire, Estela Area-Gomez, Gilbert Di Paolo, Karen E. Duff, Tiago Gil Oliveira, Tal Nuriel   +10 more
doaj   +1 more source

Pathogenic PS1 phosphorylation at Ser367

eLife, 2017
The high levels of serine (S) and threonine (T) residues within the Presenilin 1 (PS1) N-terminus and in the large hydrophilic loop region suggest that the enzymatic function of PS1/γ-secretase can be modulated by its ‘phosphorylated’ and ...
Masato Maesako, Jana Horlacher, Katarzyna M Zoltowska, Ksenia V Kastanenka, Eleanna Kara, Sarah Svirsky, Laura J Keller, Xuejing Li, Bradley T Hyman, Brian J Bacskai, Oksana Berezovska   +10 more
doaj   +1 more source

Reproducibility of serum cytokines in an elderly population

Immunity & Ageing, 2020
Background It is important to assess the temporal reproducibility of circulating cytokines for their utility in epidemiological studies. However, existing evidence is limited and inconsistent, especially for the elderly population.
Jing Guo, Nicole Schupf, Richard P. Mayeux, Yian Gu   +3 more
doaj   +1 more source