PSEN2

(redirected from presenilin 2)

PSEN2

A gene on chromosome 1q31-q42 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, or in linking chromatin to the nuclear membrane; it may also play a role in sorting proteins in the cytoplasm.

Molecular pathology
Defects in PSEN2 are a cause of Alzheimer disease type 4 and cardiomyopathy dilated type 1V.
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More promising are the studies on amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) mutations, identifying them as important factors of autosomal-dominant early-onset AD and FAD [14].
Ocular Manifestations of Alzheimer's and Other Neurodegenerative Diseases: The Prospect of the Eye as a Tool for the Early Diagnosis of Alzheimer's Disease
Mutations in genes encoding amyloid precursor protein (APP), Presenilin1, or Presenilin 2 can cause familial early-onset AD; however, the etiology of the more common sporadic AD remains unclear.[1]
Distinct Rab7-related Endosomal-Autophagic-Lysosomal Dysregulation Observed in Cortex and Hippocampus in APPswe/PSEN1dE9 Mouse Model of Alzheimer's Disease
A myristoylated calcium-binding protein that preferentially interacts with the Alzheimer's disease presenilin 2 protein.
Molecular analysis of CIB4 gene and protein in Kermani sheep
(3) While mutations in chromosomes 1 and 14 result in the formation of abnormal presenilin 1 and presenilin 2, respectively.
Nutritional Supplementation in Alzheimers disease
Disease Donor (#) Age Gender Control n.1 Newborn M n.2 31 F Alzheimer's disease n.3 81 F n.4 38 F n.5 87 F Control n.6 74 M Disease Donor (#) APOE Control n.1 E3/E4 n.2 E3/E4 Alzheimer's disease n.3 E3/E3 n.4 E3/E3 n.5 E4/E4 Control n.6 E2/E2 Disease Donor (#) AXOL line 112 Control n.1 ax0015 C/T n.2 ax0114 Presenilin 1 A264E C/T Alzheimer's disease n.3 ax0115 Presenilin 2 N141I T/T n.4 ax0112 Presenilin 1 L286V T/T n.5 ax0111 C/C Control n.6 ax0018 T/T Disease Donor (#) 158 Control n.1 C/C n.2 C/C Alzheimer's disease n.3 C/C n.4 C/C n.5 C/C Control n.6 T/T More information can be found at https://www.Axolbio.Com/shop/category/disease-alzheimers-12.
Sortilin-Related Receptor Expression in Human Neural Stem Cells Derived from Alzheimer's Disease Patients Carrying the APOE Epsilon 4 Allele
Accumulation of A[beta] peptides is considered a key event in the pathogenesis of AD; presenilin 1 (PS1) and presenilin 2 (PS2) play a critical role in the [gamma]-secretase-mediated cleavage of amyloid precursor protein (APP) and consequently the generation of A[beta] peptides [6-8].
Early Contextual Fear Memory Deficits in a Double-Transgenic Amyloid-[beta] Precursor Protein/Presenilin 2 Mouse Model of Alzheimer's Disease
Neurons derived from iPSCs generated from familial AD (fAD) patients carrying mutations in genes encoding amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2) provide an innovative tool to elucidate AD etiology and develop efficient therapeutics.
Generation of Cholinergic and Dopaminergic Interneurons from Human Pluripotent Stem Cells as a Relevant Tool for In Vitro Modeling of Neurological Disorders Pathology and Therapy
The peptide was also shown to confer neuroprotection against an array of familial Alzheimer's disease (FAD) genes including presenilin 1, presenilin 2, and mutated APP [25, 33].
Protective Mechanisms of the Mitochondrial-Derived Peptide Humanin in Oxidative and Endoplasmic Reticulum Stress in RPE Cells
Platelets are also the primary source of A[beta] peptide in human blood (~90%) [21], and this secreted peptide is similar to that found in the senile plaques of AD patients and is similarly increased in vivo by the presenilin 1 and presenilin 2 and APP mutations linked to familial AD [22].
A[beta] Peptide Originated from Platelets Promises New Strategy in Anti-Alzheimer's Drug Development
Alzheimer's disease associated with mutations in presenilin 2 is rare and variably penetrant.
Inmunoterapia beta-amiloide: ?la esperanza para la enfermedad de alzheimer?
Nam et al., "Reduced anxiety in the mice expressing mutant (N141I) presenilin 2," Journal of Neuroscience Research, vol.
Cox-2 plays a vital role in the impaired anxiety like behavior in colchicine induced rat model of Alzheimer disease
"These mutations involve the gene for the amyloid precursor protein (APP) and the genes for the presenilin 1 and presenilin 2 proteins.
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