Results 51 to 60 of about 40,397 (225)

Genistein downregulates presenilin 1 and ubiquilin 1 expression

Molecular Medicine Reports, 2011
The aim of this study was to determine the effects of several food ingredients and chemical inhibitors on the expression of presenilin, a molecule involved in γ-secretase activity and the generation of amyloid-β peptide in Alzheimer's disease. Western blotting revealed the downregulation of presenilin 1 protein expression by stimulation with genistein ...
Naoko, Okumura, Hitomi, Yoshida, Yuri, Nishimura, Mutsumi, Murakami, Yasuko, Kitagishi, Satoru, Matsuda   +5 more
openaire   +3 more sources

A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family

Brain Sciences, 2021
Presenilin-1 (PSEN1) is one of the causative genes for early onset Alzheimer’s disease (EOAD). Recently, emerging studies have reported several novel PSEN1 mutations among Asians.
Eva Bagyinszky, Gaik-Siew Ch’ng, Mei-Yan Chan, Seong Soo A. An, SangYun Kim   +4 more
doaj   +1 more source

A γ-secretase inhibitor, but not a γ-secretase modulator, induced defects in BDNF axonal trafficking and signaling: evidence for a role for APP. [PDF]

, 2015
Clues to Alzheimer disease (AD) pathogenesis come from a variety of different sources including studies of clinical and neuropathological features, biomarkers, genomics and animal and cellular models. An important role for amyloid precursor protein (APP)
Cheng, Soan, Goldstein, Lawrence SB, Mobley, William C, Natera-Naranjo, Orlangie, Nguyen, Phuong, Pearn, Matthew L, Reyna, Sol M, Tanzi, Rudolph E, Wagner, Steven L, Weissmiller, April M, Wu, Chengbiao, Zhao, Xiaobei   +11 more
core   +2 more sources

Glutamate Transporter 1 as a Novel Negative Regulator of Amyloid β

Cells
Glutamate transporter-1 (GLT-1) dynamics are implicated in excitotoxicity and Alzheimer’s disease (AD) progression. Early stages of AD are often marked by hyperactivity and increased epileptiform activity preceding cognitive decline.
Priyanka Sinha, Yuliia Turchyna, Shane Patrick Clancy Mitchell, Michael Sadek, Gokce Armagan, Florian Perrin, Masato Maesako, Oksana Berezovska   +7 more
doaj   +1 more source

Chromosome Missegregation and Trisomy 21 Mosaicism in Alzheimer's Disease

Neurobiology of Disease, 1999
A connection between Alzheimer's disease (AD) and Down syndrome (trisomy 21) is indicated by the fact that all Down syndrome individuals develop Alzheimer's disease neuropathology by the 4th decade of life. Previous studies have examined the frequency of
Lisa N. Geller, Huntington Potter
doaj   +1 more source

Early⁃onset Alzheimer's disease caused by PSEN1 gene mutation: two cases reports and literature review

Chinese Journal of Contemporary Neurology and Neurosurgery, 2021
Objective To report 2 pedigrees of early⁃onset familial Alzheimer's disease (EOFAD) caused by PSEN1 gene mutation, review previous studies and summarize the PSEN1 gene mutation sites, clinical presentation and genotype characteristics of EOFAD in China ...
ZHANG Yuan, SUN Meng⁃fan, JIA Zi⁃yan, JIANG Ji⁃wei, WANG Yan⁃li, XU Jun   +5 more
doaj   +1 more source

A reporter for amyloid precursor protein γ-secretase activity in Drosophila [PDF]

, 2003
A key event in the pathogenesis of Alzheimer's disease (AD) is the deposition of senile plaques consisting largely of a peptide known as β-amyloid (Aβ) that is derived from the amyloid precursor protein (APP).
Fernandes, Jolene, Guo, Ming, Hay, Bruce A., Hong, Elizabeth J., Zipursky, S. Larry   +4 more
core   +1 more source

The role of the Amyloid Precursor Protein mutations and PERK-dependent signaling pathways in the pathogenesis of Alzheimer’s disease [PDF]

, 2016
Alzheimer’s disease (AD) is a highly complex, progressive, age-related neurodegenerative human disease entity. The genetic basis of AD is strictly connected with occurrence of mutations in Amyloid Precursor (APP) gene on chromosome 21.
Diehl, J. Alan, Lewko, Dawid, Majsterek, Ireneusz, Nowak, Alicja, Pytel, Dariusz, Rozpędek, Wioletta   +5 more
core   +2 more sources

Small Extracellular Vesicles from Neural Cells: Physiological and Pathological Roles, and Potential in Neurodegenerative Therapy

Advanced Healthcare Materials, EarlyView.
Neural cell–derived small extracellular vesicles (sEVs) are emerging as pivotal mediators in neurodegenerative diseases, exerting both pathogenic and therapeutic functions. This review synthesizes current evidence on how sEVs from distinct neural cell types regulate neurodegeneration, neuroprotection, biomarker discovery, and targeted drug delivery ...
Muhammad Waqas Salim, Wei Zhang, Lyndsey Collins‐Praino, Yuling Wang, Andrew Care   +4 more
wiley   +1 more source

Presenilin 1 and Presenilin 2 Target γ-Secretase Complexes to Distinct Cellular Compartments [PDF]

Journal of Biological Chemistry, 2016
γ-Secretase complexes achieve the production of amyloid peptides playing a key role in Alzheimer disease. These proteases have many substrates involved in important physiological functions. They are composed of two constant subunits, nicastrin and PEN2, and two variable ones, presenilin (PS1 or PS2) and APH1 (APH1aL, APH1aS, or APH1b).
Xavier, Meckler, Frédéric, Checler
openaire   +2 more sources