Articles with "psen1" as a keyword



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The LncRNA H19/miR‐193a‐3p axis modifies the radio‐resistance and chemotherapeutic tolerance of hepatocellular carcinoma cells by targeting PSEN1

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Published in 2018 at "Journal of Cellular Biochemistry"

DOI: 10.1002/jcb.26883

Abstract: This study was designated to verify if the lncRNA H19/miR‐193a‐3p axis would play a regulatory role in the radio‐/chemo‐resistances of HCC cells through targeting PSEN1. Within the study, five human HCC cell lines were prepared,… read more here.

Keywords: psen1; lncrna h19; mir 193a; h19 mir ... See more keywords
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Deficiency of TYROBP, an adapter protein for TREM2 and CR3 receptors, is neuroprotective in a mouse model of early Alzheimer’s pathology

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Published in 2017 at "Acta Neuropathologica"

DOI: 10.1007/s00401-017-1737-3

Abstract: Conventional genetic approaches and computational strategies have converged on immune-inflammatory pathways as key events in the pathogenesis of late onset sporadic Alzheimer’s disease (LOAD). Mutations and/or differential expression of microglial specific receptors such as TREM2,… read more here.

Keywords: protein; psen1; tyrobp; pathology ... See more keywords
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Identification of a novel PSEN1 mutation (Leu232Pro) in a Korean patient with early-onset Alzheimer's disease and a family history of dementia

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Published in 2017 at "Neurobiology of Aging"

DOI: 10.1016/j.neurobiolaging.2017.04.012

Abstract: In the present study, a novel mutation in exon 7 of presenilin 1 (Leu232Pro) was discovered in a Korean patient with early-onset Alzheimer's disease, who represented memory decline at 37 years of age, followed by impairment… read more here.

Keywords: early onset; psen1; patient early; onset alzheimer ... See more keywords
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Epithelial presenilin-1 drives colorectal tumour growth by controlling EGFR-COX2 signalling

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Published in 2022 at "Gut"

DOI: 10.1136/gutjnl-2022-327323

Abstract: Objective Psen1 was previously characterised as a crucial factor in the pathogenesis of neurodegeneration in patients with Alzheimer’s disease. Little, if any, is known about its function in the gut. Here, we uncovered an unexpected… read more here.

Keywords: epithelial presenilin; growth; deficient; crc ... See more keywords

Cholinergic-like neurons carrying PSEN1 E280A mutation from familial Alzheimer’s disease reveal intraneuronal sAPPβ fragments accumulation, hyperphosphorylation of TAU, oxidative stress, apoptosis and Ca2+ dysregulation: Therapeutic implications

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Published in 2020 at "PLoS ONE"

DOI: 10.1371/journal.pone.0221669

Abstract: Alzheimer’s disease (AD) is a neurodegenerative disorder characterized by progressive memory loss and cognitive disturbance as a consequence of the loss of cholinergic neurons in the brain, neuritic plaques and hyperphosphorylation of TAU protein. Although… read more here.

Keywords: chlns; psen1; apoptosis; alzheimer disease ... See more keywords
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Mixed Pathologies in a Subject with a Novel PSEN1 G206R Mutation

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Published in 2022 at "Journal of Alzheimer's Disease"

DOI: 10.3233/jad-220655

Abstract: Background: There are more than 300 presenilin-1 (PSEN1) mutations identified but a thorough postmortem neuropathological assessment of the mutation carriers is seldom performed. Objective: To assess neuropathological changes (NC) in a 73-year-old subject with the… read more here.

Keywords: psen1 g206r; subject novel; pathology; psen1 ... See more keywords
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Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer’s Disease

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Published in 2020 at "Diagnostics"

DOI: 10.3390/diagnostics10030135

Abstract: A pathogenic mutation in PSEN1 p.Glu184Gly was discovered in a Thai family with early onset Alzheimer’s disease (EOAD) as the first case in Asia. Proband patient presented memory impairment and anxiety at the age of… read more here.

Keywords: alzheimer disease; psen1; psen1 glu184gly; family ... See more keywords
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Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene

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Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms231810970

Abstract: Presenilin-1 (PSEN1) has been verified as an important causative factor for early onset Alzheimer’s disease (EOAD). PSEN1 is a part of γ-secretase, and in addition to amyloid precursor protein (APP) cleavage, it can also affect… read more here.

Keywords: presenilin psen1; psen1; clinical phenotypes; psen1 mutations ... See more keywords
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Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer’s Disease

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Published in 2023 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms24098417

Abstract: Presenilin 1 (PSEN1) is a part of the gamma secretase complex with several interacting substrates, including amyloid precursor protein (APP), Notch, adhesion proteins and beta catenin. PSEN1 has been extensively studied in neurodegeneration, and more… read more here.

Keywords: presenilin psen1; psen1; disease; alzheimer disease ... See more keywords