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 ?
Regarding to the Eocene of Catalonia, the Ardanatz AD3 level outcrops, with the stellate and conical siliceous sponges and erected bryozoan colonies, could be compared to the Bartonian shelf deposits from the Vic Marls Formation in the northeastern part of the Ebro Basin (Busquets et al.
XY], we found that in AD3 periods of seizures at stage 4~5 the synchronization between MDT and CA1 increased substantially (Figure 3(c)), and the information flowed from MDT to CA1 (Figure 5).
AD3 Joshua Ray, assigned to Fighter Squadron (VF) 31, pulls an engine skid supporting an F110-GE-400 turbo-fan jet engine across the flight deck abed USS John C Stennis (CVN 74).
The AD3 grabbed his tools, reviewed the publications, and collected the parts he needed.
29, 1998, and the shares were priced at AD3,400 ($59.
AWF1 David Pangia, AD3 Sean McMahon and I headed out to the flight line to perform two separate preflight inspections.
AD3 Jason Novosel, left, and AD2 Oscar Perez, both assigned to Carrier Airborne Early Warming Squadron One Two Six (VW-126), perform maintenance on one of the properties of an E-2C Hawkeye on the flight deck aboard USS Harry S.
AD3 Roberts, reported a fire in the aft transmission compartment.