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Presenilin

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https://www.readbyqxmd.com/read/29678492/hmga1a-induces-alternative-splicing-of-estrogen-receptor-alpha-in-mcf-7-human-breast-cancer-cells
#1
Kenji Ohe, Shinsuke Miyajima, Tomoko Tanaka, Yuriko Hamaguchi, Yoshihiro Harada, Yuta Horita, Yuki Beppu, Fumiaki Ito, Takafumi Yamasaki, Hiroki Terai, Masayoshi Mori, Yusuke Murata, Makito Tanabe, Kenji Ashida, Munechika Enjoji, Toshihiko Yanase, Nobuhiro Harada, Toshiaki Utsumi, Akila Mayeda
The high-mobility group A protein 1a (HMGA1a) protein is known as an oncogene whose expression level in cancer tissue correlates with the malignant potential, and known as a component of senescence-related structures connecting it to tumor suppressor networks in fibroblasts. HMGA1 protein binds to DNA, but recent studies have shown it exerts novel functions through RNA-binding. Our previous studies have shown that sequence-specific RNA-binding of HMGA1a induces exon-skipping of Presenilin-2 exon 5 in sporadic Alzheimer disease...
April 17, 2018: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/29672445/glutathione-mimetic-d609-alleviates-memory-deficits-and-reduces-amyloid-%C3%AE-deposition-in-an-a%C3%AE-pp-ps1-transgenic-mouse-model
#2
Hui Yang, ZhaoHong Xie, LiFei Wei, Mao Ding, Ping Wang, JianZhong Bi
Excessive extracellular deposition of amyloid-β-peptide (Aβ) in the brain is a pathological hallmark of Alzheimer's disease (AD). Oxidative stress is associated with the onset and progression of AD and contributes to Aβ generation. Tricyclodecan-9-yl-xanthogenate (D609) is a glutathione (GSH)-mimetic compound. Although the antioxidant properties of D609 have been well-studied, its potential therapeutic significance on AD remains unclear. In the present study, we used a mouse model of AD to investigate the effects and the mechanism of action of D609 on AD...
April 18, 2018: Neuroreport
https://www.readbyqxmd.com/read/29652865/calsenilin-a-presenilin-interactor-regulates-rhoa-signaling-and-neurite-outgrowth
#3
Hee-Jun Kim, Won-Haeng Lee, Mo-Jong Kim, Sunmee Shin, Byungki Jang, Jae-Bong Park, Wilma Wasco, Joseph D Buxbaum, Yong-Sun Kim, Eun-Kyoung Choi
Calsenilin modulates A-type potassium channels, regulates presenilin-mediated γ-secretase activity, and represses prodynorphin and c-fos genes expression. RhoA is involved in various cellular functions including proliferation, differentiation, migration, transcription, and regulation of the actin cytoskeleton. Although recent studies demonstrate that calsenilin can directly interact with RhoA and that RhoA inactivation is essential for neuritogenesis, it is uncertain whether there is a link between calsenilin and RhoA-regulated neuritogenesis...
April 13, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29619615/dysfunctional-%C3%AE-secretase-in-familial-alzheimer-s-disease
#4
Michael S Wolfe
Genetics strongly implicate the amyloid β-peptide (Aβ) in the pathogenesis of Alzheimer's disease. Dominant missense mutation in the presenilins and the amyloid precursor protein (APP) cause early-onset familial Alzheimer's disease (FAD). As presenilin is the catalytic component of the γ-secretase protease complex that produces Aβ from APP, mutation of the enzyme or substrate that produce Aβ leads to FAD. However, the mechanism by which presenilin mutations cause FAD has been controversial, with gain of function and loss of function offered as binary choices...
April 4, 2018: Neurochemical Research
https://www.readbyqxmd.com/read/29614680/novel-grn-mutations-in-alzheimer-s-disease-and-frontotemporal-lobar-degeneration
#5
Irene Piaceri, Daniele Imperiale, Enrico Ghidoni, Cristiana Atzori, Silvia Bagnoli, Camilla Ferrari, Silvana Ungari, Luca Ambrogio, Sandro Sorbi, Benedetta Nacmias
BACKGROUND: During the twentieth century, frontotemporal dementia (FTD) was often misdiagnosed, confused with Alzheimer's disease or psychiatric disorders, jeopardizing care and research. OBJECTIVE: To analyze the FTD genes in the DNA samples of patients belonging to families clinically classified as probable Alzheimer's disease (FAD) in the early 1990s and not carrying mutation in the three main genes linked to FAD (Presenilin 1, Presenilin 2, and Amyloid precursor protein)...
2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29614673/findings-from-the-swedish-study-on-familial-alzheimer-s-disease-including-the-app-swedish-double-mutation
#6
Steinunn Thordardottir, Caroline Graff
This is a brief summary of the findings from the Swedish study on familial Alzheimer's disease (FAD). Similar to other FAD studies, it includes prospective assessments of cognitive function, tissue sampling, and technical analyses such as MRI and PET. This 24-year-old study involves 69 individuals with a 50% risk of inheriting a disease-causing mutation in presenilin 1 (PSEN1 H163Y or I143T), or amyloid precursor protein (the Swedish APP or the arctic APP mutation) who have made a total of 169 visits. Our results show the extraordinary power in this study design to unravel the earliest changes in preclinical AD...
March 29, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29611543/intracellular-trafficking-of-trem2-is-regulated-by-presenilin-1
#7
Yingjun Zhao, Xiaoguang Li, Timothy Huang, Lu-Lin Jiang, Zhenqiu Tan, Muxian Zhang, Irene Han-Juo Cheng, Xin Wang, Guojun Bu, Yun-Wu Zhang, Qi Wang, Huaxi Xu
Genetic mutations in triggering receptor expressed on myeloid cells 2 (TREM2) have been linked to a variety of neurodegenerative diseases including Alzheimer's disease, amyotrophic lateral sclerosis, frontotemporal dementia and Parkinson's disease. In the brain, TREM2 is highly expressed on the cell surface of microglia, where it can transduce signals to regulate microglial functions such as phagocytosis. To date, mechanisms underlying intracellular trafficking of TREM2 remain elusive. Mutations in the presenilin 1 (PS1) catalytic subunit of the γ-secretase complex have been associated with increased generation of the amyloidogenic Aβ (amyloid-β) 42 peptide through cleavage of the Aβ precursor amyloid precursor protein...
December 1, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29607920/nobiletin-reduces-intracellular-and-extracellular-%C3%AE-amyloid-in-ips-cell-derived-alzheimer-s-disease-model-neurons
#8
Junko Kimura, Kosuke Shimizu, Koji Kajima, Akihito Yokosuka, Yoshihiro Mimaki, Naoto Oku, Yasushi Ohizumi
Alzheimer's disease (AD) is the most common cause of dementia, with progressive memory impairment. Recently, neprilysin, a β-amyloid (Aβ)-degrading enzyme has become featured as a drug target for AD. Previously, we identified nobiletin from citrus peels as a natural compound possessing anti-dementia activity. In addition, we demonstrated that nobiletin improved memory in memory-impaired animals and, further, that Aβ levels were markedly decreased in the brains of these animals. We demonstrated in vitro that nobiletin up-regulates neprilysin expression and activity in human neuroblastoma cells...
2018: Biological & Pharmaceutical Bulletin
https://www.readbyqxmd.com/read/29579687/deuterated-polyunsaturated-fatty-acids-reduce-brain-lipid-peroxidation-and-hippocampal-amyloid-%C3%AE-peptide-levels-without-discernable-behavioral-effects-in-an-app-ps1-mutant-transgenic-mouse-model-of-alzheimer-s-disease
#9
Sophia M Raefsky, Ran Furman, Ginger Milne, Erik Pollock, Paul Axelsen, Mark P Mattson, Mikhail S Shchepinov
Alzheimer's disease (AD) involves progressive deposition of amyloid β-peptide (Aβ), synapse loss, and neuronal death, which occur in brain regions critical for learning and memory. Considerable evidence suggests that lipid peroxidation contributes to synaptic dysfunction and neuronal degeneration, both upstream and downstream of Aβ pathology. Recent findings suggest that lipid peroxidation can be inhibited by replacement of polyunsaturated fatty acids (PUFA) with isotope-reinforced (deuterated) PUFA (D-PUFA), and that D-PUFA can protect neurons in experimental models of Parkinson's disease...
March 5, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29578633/probing-the-mint2-protein-protein-interaction-network-with-relevance-for-the-pathophysiology-of-alzheimer-s-disease
#10
Kristian Strømgaard, Thomas M T Jensen, Louise Albertsen, Christian R O Bartling, Linda M Haugaard-Kedström
The intracellular adaptor protein, Mint2, binds amyloid precursor protein (APP) and presenilin-1 that are both central constituents of the amyloidogenic pathway associated with Alzheimer's disease (AD). Additional interaction partners have been suggested for Mint2, several of which are also pertinent to AD pathogenesis. However, a comparative mapping of the Mint2 protein-protein interaction network is missing. Here, we provide a systematic characterization of seven interaction partners and address their specificities towards the different binding domains of Mint2, which reveal domain specific and nonspecific interaction partners...
March 26, 2018: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/29569780/a-new-nonsense-mutation-in-the-poglut1-gene-in-two-sisters-with-dowling-degos-disease
#11
S Duchatelet, H Clerc, L Machet, P Gaboriaud, S Miskinyte, T Kervarrec, A Hovnanian
Dowling-Degos disease (DD) (OMIM: 179850, 615327, 615674, 615696) is a rare autosomal-dominant genetic disorder belonging to the spectrum of reticulated pigmented dermatitis(1). Galli-Galli disease is considered as being a variant of DD, harboring all clinical, histological and genetics features of DD in association with acantholysis (2). In 2006, exome sequencing revealed loss-of-function mutations in KRT5 (cytokeratin 5) (p.Ile140fsAsnfs*39, p.Ser5*) in 8 of 10 DD cases (3). Since then, mutations in POGLUT1, encoding O-glucosylosyltransferase 1 enzyme, were reported in Galli-Galli cases (4)...
March 23, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29563991/tongluo-xingnao-effervescent-tablet-reverses-memory-deficit-and-reduces-plaque-load-in-appswe-ps1de9-mice
#12
Wenjun Fu, Yuan Dai, Tao Ma, Jiangping Wei, Huan Chen, Shijun Xu
Alzheimer's disease (AD) is the most common type of dementia. Amyloid-β (Aβ)-induced neurodegeneration is hypothesized to be the primary pathological mechanism of AD. Tongluo Xingnao effervescent tablets (TXET), based on the traditional Chinese formula Qionggui Tang, have been used to treat AD and other types of dementia in China for decades. In the present study, the effects of TXET on cognition deficit, amyloid-β production, amyloid precursor protein procession and β-secretase expression were investigated in the APPswe/PS1dE9 mouse model of AD...
April 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29560412/elevated-phospholipase-d-isoform-1-in-alzheimer-s-disease-patients-hippocampus-relevance-to-synaptic-dysfunction-and-memory-deficits
#13
Balaji Krishnan, Rakez Kayed, Giulio Taglialatela
Introduction: Phospholipase D (PLD), a lipolytic enzyme that breaks down membrane phospholipids, is also involved in signaling mechanisms downstream of seven transmembrane receptors. Abnormally elevated levels of PLD activity are well-established in Alzheimer's disease (AD), implicating the two isoforms of mammalian phosphatidylcholine cleaving PLD (PC-PLD1 and PC-PLD2). Therefore, we took a systematic approach of investigating isoform-specific expression in human synaptosomes and further investigated the possibility of therapeutic intervention using preclinical studies...
2018: Alzheimer's & Dementia: Translational Research & Clinical Interventions
https://www.readbyqxmd.com/read/29552611/data-on-solubilization-identification-and-thermal-stability-of-human-presenilin-2
#14
Ge Yang, Kun Yu, Jan Kubicek, Jörg Labahn
The data presented here are related to the research article entitled "Expression, purification, and preliminary characterization of human presenilin-2" [1]. Human Presenilin-2 is the catalytic subunit of γ-secretase and a possible calcium leakage channel (Kimberly et al., 2000; Tu et al., 2006) [2], [3]. HisPS2 which was obtained by overexpression in E. coli strain C43 (DE3) was extracted by detergent solubilisation. The sample isolation efficiency by detergents and the protein identification by mass spectrometry and western blot are described...
April 2018: Data in Brief
https://www.readbyqxmd.com/read/29535623/tetrathiomolybdate-treatment-leads-to-the-suppression-of-inflammatory-responses-through-the-traf6-nf%C3%AE%C2%BAb-pathway-in-lps-stimulated-bv-2-microglia
#15
Zhuo Wang, Ya-Hong Zhang, Chuang Guo, Hui-Ling Gao, Man-Li Zhong, Ting-Ting Huang, Na-Na Liu, Rui-Fang Guo, Tian Lan, Wei Zhang, Zhan-You Wang, Pu Zhao
Although the positive relationship between copper and Alzheimer's disease (AD) was reported by a lot of epidemiological data, the mechanism is not completely known. Copper is a redox metal and serves as a mediator of inflammation. Because the homeostasis of copper is altered in Aβ precursor protein (APP) and presenilin 1 (PS1) transgenic (Tg) mice, the using of copper chelators is a potential therapeutic strategy for AD. Here we report that a copper chelator, tetrathiomolybdate (TM), is a potential therapeutic drug of AD...
2018: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/29525180/identification-of-rare-genetic-variants-in-italian-patients-with-dementia-by-targeted-gene-sequencing
#16
Anna Bartoletti-Stella, Simone Baiardi, Michelangelo Stanzani-Maserati, Silvia Piras, Paolo Caffarra, Alberto Raggi, Roberta Pantieri, Sara Baldassari, Leonardo Caporali, Samir Abu-Rumeileh, Simona Linarello, Rocco Liguori, Piero Parchi, Sabina Capellari
Genetics is intricately involved in the etiology of neurodegenerative dementias. The incidence of monogenic dementia among all neurodegenerative forms is unknown due to the lack of systematic studies and of patient/clinician access to extensive diagnostic procedures. In this study, we conducted targeted sequencing in 246 clinically heterogeneous patients, mainly with early-onset and/or familial neurodegenerative dementia, using a custom-designed next-generation sequencing panel covering 27 genes known to harbor mutations that can cause different types of dementia, in addition to the detection of C9orf72 repeat expansions...
February 13, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29521549/cardiac-adenovirus-associated-viral-presenilin-1-gene-delivery-protects-the-left-ventricular-function-of-the-heart-via-regulating-ryr2-function-in-post-ischaemic-heart-failure
#17
Tian Li, Yafeng Shen, Li Su, Xiaoyan Fan, Fangxing Lin, Xuting Ye, Dianer Ding, Ying Tang, Yongji Yang, Changhai Lei, Shi Hu
Post-ischaemic heart failure is a major cause of death worldwide. Reperfusion of infarcted heart tissue after myocardial infarction has been an important medical intervention to improve outcomes. However, disturbances in Ca2+ and redox homeostasis at the cellular level caused by ischaemia/reperfusion remain major clinical challenges. In this study, we investigated the potential of adeno-associated virus (AAV)-9-mediated cardiac expression of a Type-2 ryanodine receptor (RyR2) degradation-associated gene, Presenilin 1 (PSEN1), to combat post-ischaemic heart failure...
March 21, 2018: Journal of Drug Targeting
https://www.readbyqxmd.com/read/29508255/anti-amyloidgenic-and-neurotrophic-effects-of-tetrahydroxystilbene-glucoside-on-a-chronic-mitochondrial-dysfunction-rat-model-induced-by-sodium-azide
#18
Ru-Yi Zhang, Lan Zhang, Li Zhang, Yu-Lan Wang, Lin Li
Alzheimer's disease (AD) is an irreversible neurodegenerative brain disorder with complex pathogenesis. Emerging evidence indicates that there is a tight relationship between mitochondrial dysfunction and β-amyloid (Aβ) formation. 2,3,5,4'-Tetrahydroxystilbene-2-O-β-D-glucoside (TSG) is one of the main active components extracted from Polygonum multiflorum. The purpose of the present study was to investigate the effects of TSG on Aβ production and neurotrophins in the brains of rats by using a mitochondrial dysfunction rat model induced by sodium azide (NaN3 ), an inhibitor of mitochondrial cytochrome c oxidase (COX)...
March 5, 2018: Journal of Natural Medicines
https://www.readbyqxmd.com/read/29504531/induction-of-amyloid-%C3%AE-42-production-by-fipronil-and-other-pyrazole-insecticides
#19
Morgane Cam, Emilie Durieu, Marion Bodin, Antigoni Manousopoulou, Svenja Koslowski, Natalia Vasylieva, Bogdan Barnych, Bruce D Hammock, Bettina Bohl, Philipp Koch, Chiori Omori, Kazuo Yamamoto, Saori Hata, Toshiharu Suzuki, Frank Karg, Patrick Gizzi, Vesna Erakovic-Haber, Vlatka Bencetic Mihaljevic, Branka Tavcar, Erik Portelius, Josef Pannee, Kaj Blennow, Henrik Zetterberg, Spiros D Garbis, Pierrick Auvray, Hermeto Gerber, Jeremy Fraering, Patrick C Fraering, Laurent Meijer
Generation of amyloid-β peptides (Aβs) by proteolytic cleavage of the amyloid-β protein precursor (AβPP), especially increased production of Aβ42/Aβ43 over Aβ40, and their aggregation as oligomers and plaques, represent a characteristic feature of Alzheimer's disease (AD). In familial AD (FAD), altered Aβ production originates from specific mutations of AβPP or presenilins 1/2 (PS1/PS2), the catalytic subunits of γ-secretase. In sporadic AD, the origin of altered production of Aβs remains unknown...
February 28, 2018: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29490669/thiamine-diphosphate-reduction-strongly-correlates-with-brain-glucose-hypometabolism-in-alzheimer-s-disease-whereas-amyloid-deposition-does-not
#20
Shaoming Sang, Xiaoli Pan, Zhichun Chen, Fan Zeng, Shumei Pan, Huimin Liu, Lirong Jin, Guoqiang Fei, Changpeng Wang, Shuhua Ren, Fangyang Jiao, Weiqi Bao, Weiyan Zhou, Yihui Guan, Yiqiu Zhang, Hongcheng Shi, Yanjiang Wang, Xiang Yu, Yun Wang, Chunjiu Zhong
BACKGROUND: The underlying mechanism of brain glucose hypometabolism, an invariant neurodegenerative feature that tightly correlates with cognitive impairment and disease progression of Alzheimer's disease (AD), remains elusive. METHODS: Positron emission tomography with 2-[18 F]fluoro-2-deoxy-D-glucose (FDG-PET) was used to evaluate brain glucose metabolism, presented as the rate of 2-[18 F]fluoro-2-deoxy-D-glucose standardized uptake value ratio (FDG SUVR) in patients with AD or control subjects and in mice with or without thiamine deficiency induced by a thiamine-deprived diet...
March 1, 2018: Alzheimer's Research & Therapy
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