Presenilin 2 Proteine (PSEN2)

Mouse (Murine) Presenilin 2 (Alzheimer Disease 4) (PSEN2) Interaktionspartner

1. These observations illustrate a novel PS2 (zeige PDCD6 Proteine)-dependent means of modulating LPS (zeige TLR4 Proteine)-mediated immune responses and identify a functional distinction between PS1 (zeige PSEN1 Proteine) and PS2 (zeige PDCD6 Proteine) in innate immunity.

2. Although hyperactivity and hypersynchronicity were respectively detected in mice expressing the PS2 (zeige PDCD6 Proteine)-N141I or the APP (zeige APP Proteine) Swedish mutant alone, the increase in cross-frequency coupling specifically characterized the 6-month-old PS2APP mice, just before the surge of the cognitive decline

3. Presenilin 2 (PS2), mutations in which underlie familial Alzheimer's disease (FAD), promotes endoplasmic reticulum-mitochondria coupling only in the presence of mitofusin 2 (Mfn2 (zeige MFN2 Proteine)).

4. Study shows that the binding of HSF-1 (zeige HSF1 Proteine), Cdx1 (zeige CDX1 Proteine), Ets-1 (zeige ETS1 Proteine) and Sp1 (zeige SP1 Proteine) to Presenilin 1 (zeige PSEN1 Proteine) promoter and that of Nkx2.2 (zeige Nkx2-2 Proteine), HFH-2 (zeige FOXD3 Proteine), Cdx1 (zeige CDX1 Proteine) and NF-kappaB (zeige NFKB1 Proteine) to Presenilin 2 promoter regulate their differential expression during brain development.

5. ARF4 (zeige ARF4 Proteine) is required for Presenilin basal body localization, Notch (zeige NOTCH1 Proteine) signaling, and subsequent epidermal differentiation.

6. Results suggest that mutation of PS2 (zeige PDCD6 Proteine) can lead to NF-kappaB (zeige NFKB1 Proteine) mediate amyloidogensis, and this effect can be amplified by the absence of estrogen.

7. Results showed that epigenetic mechanisms play a pivotal role in transcriptional regulation of PS1 (zeige PSEN1 Proteine) and PS2 (zeige PDCD6 Proteine) during cerebral cortical development

8. This study presents novel evidence for the differential expression of PS proteins in a nongenetic model for aging, resulting in an overall increase of the PS2 (zeige PDCD6 Proteine) to PS1 (zeige PSEN1 Proteine) ratio.

9. The loss of PS2 (zeige PDCD6 Proteine) could have a critical role in lung tumor development through the upregulation of iPLA2 (zeige PLA2G6 Proteine) activity by reducing gamma-secretase.

10. One mechanism by which PS2 (zeige PDCD6 Proteine) works to reign in proinflammatory microglial behavior and PS2 (zeige PDCD6 Proteine) dysfunction or deficiency could result in unchecked proinflammatory activation. contributing to neurodegeneration.

Zebrafish Presenilin 2 (Alzheimer Disease 4) (PSEN2) Interaktionspartner

1. Zebrafish pre2 is maternally and ubiquitously expressed during early embryo development, whereas Pre2 protein expression is initiated between 6 and 12 hours post fertilisation (hpf), suggesting strict regulation of pre2 translation.

2. These results suggest that Psen2 plays a more prominent role in Notch (zeige NOTCH1 Proteine) signalling and embryo development in zebrafish than in mammals, and that the effect of reduced Psen2 can be ameliorated by Psen1 (zeige PSEN1 Proteine) loss.

Human Presenilin 2 (Alzheimer Disease 4) (PSEN2) Interaktionspartner

1. The present data suggest that PS2 mutations suppress lung tumor development by inhibiting the iPLA2 (zeige PLA2G6 Proteine) activity of PRDX6 (zeige PRDX6 Proteine) via a gamma-secretase cleavage mechanism and may explain the inverse relationship between lung cancer and Alzheimer's disease incidence.

2. Whole-exome sequencing of 238 African American subjects identified 6 rare missense variants within the early-onset Alzheimer's disease (AD) genes, which were observed in AD cases but never among controls. These variants were analyzed in an independent cohort of 300 African American subjects, which indicated that a PSEN2 and PSEN1 (zeige PSEN1 Proteine) novel rare variants, may contribute to AD risk in this population.

3. Presenilin 2 (PS2), mutations in which underlie familial Alzheimer's disease (FAD (zeige BRCA2 Proteine)), promotes endoplasmic reticulum-mitochondria coupling only in the presence of mitofusin 2 (Mfn2 (zeige MFN2 Proteine)).

4. The search for the genetic factors contributing to Alzheimer disease (AD) has evolved tremendously throughout the years. It started from the discovery of fully penetrant mutations in Amyloid precursor protein (zeige APP Proteine), Presenilin 1 (zeige PSEN1 Proteine), and Presenilin 2 as a cause of autosomal dominant AD

5. Data show that presenilin 1 (PS1 (zeige PSEN1 Proteine))/anterior-pharynx-defective protein 1 (Aph1b), presenilin 2 (PS2)/Aph1aL, PS2/Aph1aS and PS2/anterior pharynx defective 1 homolog B (Aph1b) gamma-secretase produced amyloid beta peptide (Abeta (zeige APP Proteine)) with a higher Abeta42+Abeta43-to-Abeta40 (Abeta42(43)/Abeta40) ratio than the other gamma-secretases.

6. This review reveled that Mutations in APP (zeige APP Proteine) and PS-1 (zeige PSEN1 Proteine) and PS-2 genes that are associated with early-onset, autosomal, dominantly inherited AD.

7. Most of the early-onset Alzheimer's disease -associated mutations have been detected in PSEN1 (zeige PSEN1 Proteine), and several novel PSEN1 (zeige PSEN1 Proteine) mutations were recently identified in patients from various parts of the world, including Asia. Until 2014, no PSEN2 mutations were found in Asian patients; however, emerging studies from Korea and the People's Republic of China discovered probably pathogenic PSEN2 mutations. [review]

8. Familial Alzheimer's disease Patients with PSEN2 mutations have a delayed AOO with longest disease duration and presented more frequently with disorientation. [review]

9. Study identified a unique motif in PSEN2 that directs gamma-secretase to late endosomes/lysosomes via a phosphorylation-dependent interaction with the AP-1 (zeige FOSB Proteine) adaptor complex. PSEN2 selectively cleaves late endosomal/lysosomal localized substrates and generates the prominent pool of intracellular Abeta (zeige APP Proteine) that contains longer Abeta (zeige APP Proteine); familial Alzheimer's disease-associated mutations in PSEN2 increased the levels of longer Ab...

10. Data show that presenilin 1 (PS1 (zeige PSEN1 Proteine))-containing gamma-secretase complexes were targeted to the plasma membrane, whereas presenilin 2 (PS2)-containing ones were addressed to the trans-Golgi network, to recycling endosomes.