PSEN1

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PSEN1

A gene on chromosome 14q24.3 that encodes a probable catalytic subunit of the gamma-secretase complex, which catalyses the intramembrane cleavage of integral membrane proteins such as Notch receptors and APP. It may play a role in intracellular signalling and gene expression, and in linking chromatin to the nuclear membrane. PSEN1 stimulates cell–cell adhesion by associating with the E-cadherin/catenin complex; it cleaves E-cadherin during apoptosis or calcium influx, promoting the disassembly of the E-cadherin/catenin complex and increases the pool of cytoplasmic beta-catenin, thus downregulating Wnt signalling. It may play a role in haematopoiesis.

Molecular pathology
Defects in PSEN1 cause of Alzheimer disease type 3, frontotemporal dementia, cardiomyopathy dilated type 1U, and familial acne inversa type 3.
References in periodicals archive ?
While the AD1 prepped the safety equipment for the engine wash, the AD3 (who would serve as turn operator) reviewed the ADB and attended the turn brief in Maintenance Control.
(AD3) https://abta.com/assets/uploads/general/Holiday_Habits_Report_2017.pdf
In order to maintain the metabolism of the WPS-2 and AD3, the atmosphere is sufficient to supply hydrogen, carbon dioxide and carbon monoxide, he said.
The first step involves the solubilization of compounds AD1 and AD2 in chloroform and AD3 and AD4 in acetone prior to introduction into the GC injection port.
Twenty gram of Vitablend AD3 (Vitamin A, 50,000 IU/g and Vitamin D3, 5,000 IU/g) was added in 100 kg concentrate mixture.
La vacuna cAd3-ZEBOV utiliza como vector un adenovirus Ad3 derivado de chimpances, el vector transporta segmentos del material genetico que codifica la glucoproteina (GP) de una o dos especies del virus del Ebola: Zaire ebolavirus y Sudan ebolavirus (58).
2, ad3: "el precio de las cosas objeto de comercio no se determina segun la jerarquia de su naturaleza [...] sino segun la utilidad que los hombres tienen de ellas".
This increase in demand means the need for more workers, and AD will translate from the AD3 AD2, but this time there will be much less than in the previous pass, the price level increasing from P2 to P3, an increase much higher than in the previous pass.
The subplots were composed by the factors 1.00 (AD1), 0.75 (AD2), 0.50 (AD3) and 0.25 (AD4) of the recommended fertilization with an BIOSON as organic product (commercial name).
While acting as a plane captain for an F/A-18D, AD3 Morris prevented a possible mishap by performing a meticulous aircraft preflight walk around.
These micropalaeontological data are added to those made in Arraitza (level ARRl.l), in Ardanatz (levels AD2.1 and AD3.1), and in the Liedena Sandstone (Liedena and other localities, facies Bl, B3 and B4) (in Payros et al., 2000; Astibia et al., 2014).