Presenilins

Integral membrane proteins and essential components of the gamma-secretase complex that catalyzes the cleavage of membrane proteins such as NOTCH RECEPTORS and AMYLOID BETA-PEPTIDES precursors. Mutations of presenilins lead to presenile ALZHEIMER DISEASE with onset before age 65 years.

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Networked: 681 relevant articles (2 outcomes, 37 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Shen, Jie: 16 articles (11/2014 - 04/2004)
2.	De Strooper, Bart: 12 articles (11/2015 - 01/2004)
3.	Wolfe, Michael S: 12 articles (11/2014 - 12/2002)
4.	Haass, Christian: 9 articles (06/2010 - 06/2002)
5.	Iwatsubo, Takeshi: 8 articles (01/2014 - 04/2002)
6.	Berezovska, Oksana: 8 articles (01/2014 - 01/2003)
7.	Checler, Frédéric: 8 articles (08/2012 - 03/2002)
8.	Thinakaran, Gopal: 8 articles (01/2010 - 01/2003)
9.	Hyman, Bradley T: 7 articles (01/2014 - 01/2003)
10.	Kovacs, Dora M: 7 articles (01/2014 - 12/2002)

Related Diseases

1.	Alzheimer Disease (Alzheimer's Disease) 10/01/2012 - "Presenilin conditional double knockout (PScDKO) mice have been used as animal models to study the development of Alzheimer's disease (AD) phenotypes. " 01/01/2012 - "Despite the occurrence of abundant Alzheimer's disease mice models this article is dedicated to selected models with mutations in the APP, MAPT and presenilin genes and their application for behavioral studies." 12/01/2007 - "The aim of this study was to describe a novel mutation in exon 8 of the presenilin gene (L286P) associated with early-onset autosomal dominant Alzheimer's disease (AD) and lobar haematomas. " 04/01/2005 - "Disruptions of intracellular Ca(2+) signaling are proposed to underlie the pathophysiology of Alzheimer's disease (AD), and recent studies examining AD-linked mutations in the presenilin genes demonstrate enhanced ER Ca(2+) release in a variety of cell types and model systems. " 11/28/2001 - "Molecular studies on the pathology of Alzheimer's disease (AD) have revealed that mutations in presenilin genes (PS) account for some familial cases. "
2.	Neuroblastoma 02/22/2013 - "Recently, a cellular neuroblastoma model where both APP and presenilin are expressed has become available. " 12/01/2004 - "Nontransfected human neuroblastoma cells also showed increased presenilin when cultured in 0.4 mM OA. " 06/01/2004 - "Presenilin expression during induced differentiation of the human neuroblastoma SH-SY5Y cell line." 06/01/2004 - "Human neuroblastoma SH-SY5Y cells stably transfected with both wild-type and exon-9 deleted (deltaE9) presenilin constructs were used to study the role of the presenilin proteins during differentiation. " 01/01/2013 - "Our results showed for the first time that triptolide inhibited the expression of CXCR2 and presenilin in a neuroblastoma cell line SHSY5Ysw. "
3.	Ischemia 02/15/2000 - "Our data suggest that presenilin mutations may promote neuronal degeneration in AD by increasing the sensitivity of neurons to age-related ischemia-like conditions. " 03/15/1999 - "In the present study, we have examined the expression of both presenilins in the rat hippocampus, cortex, striatum, and cerebellum after middle cerebral artery occlusion (MCA-O), an animal model of ischemia. " 03/01/2000 - "Our studies show that ischemia-induced the Alzheimer-associated gene presenilin 1 (PS1) and endoplasmic reticulum-stress, generated from a vascular disorder, may unmask clinical AD symptoms caused by presenilin mutation, suggesting that a vascular factor might be involved in the onset of familial AD."
4.	Neurodegenerative Diseases (Neurodegenerative Disease) 02/01/2011 - "In addition to established mouse models, zebrafish are emerging as an attractive vertebrate model organism to study the role of presenilin during the development of the nervous system and in neurodegenerative disorders involving presenilin. " 01/01/2012 - "However, neurodegenerative disease genes, for example huntingtin (HTT), the ataxins, the presenilins (PSEN1/PSEN2) are not simply localized to neurons but are ubiquitously expressed throughout peripheral tissues; it is therefore paramount to properly understand the earliest precipitating events leading to neuronal pathogenesis to develop effective long-term therapies. " 11/01/2008 - "We demonstrate facilitation of RyR gating by PS2 NTF1-87, which might represent a general mechanism of RyR regulation by presenilins potentially prone to be affected by mutations or external stimuli contributing to the development of neurodegenerative diseases." 04/22/2008 - "Our findings add complexity to the spectrum of atypical phenotypes associated with presenilin mutations and should then be taken into account when considering the nosography of neurodegenerative diseases. " 02/01/2008 - "Mutations in presenilin (PS) genes cause majority of early onset Alzheimer's disease (AD), an age related neurodegenerative disorder. "
5.	Inflammation 01/01/2010 - "In agreement, total loss of presenilin function in the brain results in striking neurodegeneration and inflammation, which includes activation of glial cells and induction of proinflammatory genes, besides altered inflammatory responses in the periphery. " 01/01/2010 - "By contrast, mutations in the presenilin genes responsible for early onset familial AD cause rapid disease progression and accentuate clinical and pathological features including inflammation. " 01/01/2010 - "Studies in presenilin conditional knockout mice have revealed that presenilin-1 is essential for age-dependent Abeta accumulation and inflammation. " 01/01/2014 - "However, the most widely used transgenic AD models (overexpressing mutated forms of amyloid precursor protein, presenilin, and/or tau) do not demonstrate the degree of inflammation, neurodegeneration (particularly of the cholinergic system), and cognitive decline that is comparable with the human disease. " 07/01/2012 - "At ∼6 mo of age, double-mutant mice develop amyloid pathology, with signs of neuritic dystrophy, intracellular Aβ accumulation, and glial inflammation, an increase in AβPP C-terminal fragments, and an 8 times increase in Aβ42 levels with a 40% decrease in Aβ40 levels, leading to a significant increase (14 times) of Aβ42/Aβ40 ratios, with minimal effects on presenilin or the Notch1 pathway in the brain. "

Related Drugs and Biologics

1.	Amyloid Precursor Protein Secretases (beta-Secretase)
2.	Amyloid (Amyloid Fibrils)
3.	Proteins (Proteins, Gene)
4.	Flavin-Adenine Dinucleotide (FAD)
5.	Presenilin-1
6.	Amyloid beta-Protein Precursor (Amyloid Protein Precursor)
7.	Amyloid beta-Peptides
8.	Calcium
9.	Apolipoproteins
10.	Apolipoproteins E (ApoE)

Related Therapies and Procedures

1.	Transplantation (Transplant Recipients)
2.	Heart Transplantation (Grafting, Heart)