Results 81 to 90 of about 40,397 (225)

A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences

open access: yesJournal of the Formosan Medical Association, 2016
There are great diversities of clinical phenotypes among the various familial Alzheimer's disease (FAD) families. We aimed to systematically review all the previously reported cases of FAD and to perform comparisons between Asian and white patients.
Yat-Fung Shea   +5 more
doaj   +1 more source

Stabilizing the Retromer Complex in a Human Stem Cell Model of Alzheimer's Disease Reduces TAU Phosphorylation Independently of Amyloid Precursor Protein. [PDF]

open access: yes, 2018
Developing effective therapeutics for complex diseases such as late-onset, sporadic Alzheimer's disease (SAD) is difficult due to genetic and environmental heterogeneity in the human population and the limitations of existing animal models. Here, we used
Fong, Lauren K   +5 more
core   +3 more sources

Proteostasis of organelles in aging and disease

open access: yesThe FEBS Journal, EarlyView.
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi   +5 more
wiley   +1 more source

Morphological Change by Overexpression of D385A Dominant Negative Presenilin 1 in Human Neuroblastoma SH-SY5Y Cells

open access: yesJournal of Pharmacological Sciences, 2006
Presenilin 1 (PS1) is a multifunctional protein, and its mutations are highly related to familial Alzheimer’s disease (AD). In this study, we examined the effects of PS1 overexpression on neuronal morphology using SH-SY5Y cells.
Daiju Tsuchiya   +7 more
doaj   +1 more source

Identification of transcription factor binding sites in promoter databases [PDF]

open access: yes, 2011
Transcription factors (TFs) are the proteins which regulates the expression of their target genes either in a positive or negative manner. TFs realize this task by binding to a specific DNA sequence contained in promoter regions, via their DNA binding ...
Dağ, Uğur   +5 more
core   +1 more source

Mitophagy in skeletal muscle: Impact of ageing, exercise and disuse

open access: yesExperimental Physiology, EarlyView.
Abstract Skeletal muscle plays an important role in whole‐body health, quality of life and regulation of metabolism. The maintenance of a healthy mitochondrial pool is imperative for the preservation of skeletal muscle quality and is mediated through mitochondrial quality control consisting of mitochondrial turnover mediated by a balance between ...
Anastasiya Kuznyetsova, David A. Hood
wiley   +1 more source

Establishment of induced pluripotent stem cell line (ZZUi010-A) from an Alzheimer's disease patient carrying an APP gene mutation

open access: yesStem Cell Research, 2017
Alzheimer's disease (AD) is one of the most common neurodegenerative disorders. Previous studies have identified mutations in several genes, such as amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2), in patients with early ...
Zhilei Wang   +11 more
doaj   +1 more source

Manipulation of lipid rafts in neuronal cells [PDF]

open access: yes, 2010
Lipid rafts are specialized plasma membrane micro-domains highly enriched in cholesterol, sphingolipids and glycosylphosphatidylinositol (GPI) anchored proteins.
Eckert, Gunter P.
core   +1 more source

Canonical and non‐canonical functions of proteins regulating mitochondrial dynamics in mammalian physiology

open access: yesThe Journal of Physiology, EarlyView.
Abstract figure legend Mitochondria are highly dynamic organelles that continuously remodel their architecture through coordinated cycles of fusion and fission. This review examines the four key GTPases that orchestrate mitochondrial dynamics in mammals: MFN1, MFN2, OPA1, and DRP1.
Rémi Chaney   +4 more
wiley   +1 more source

Structure and dynamics of γ-secretase with presenilin 2 compared to presenilin 1

open access: yesRSC Advances, 2019
We constructed a model of presenilin-2 γ-secretase in the membrane and studied it by all-atom molecular dynamics simulations. The study provides the first structural-dynamic comparison of presenilin 1 and 2 relevant to Alzheimer's disease.
Budheswar Dehury   +3 more
openaire   +4 more sources

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