Presenilin-1

Integral membrane protein of Golgi and endoplasmic reticulum. Its homodimer is an essential component of the gamma-secretase complex that catalyzes the cleavage of membrane proteins such as NOTCH RECEPTORS and AMYLOID BETA-PEPTIDES precursors. PSEN1 mutations cause early-onset ALZHEIMER DISEASE type 3 that may occur as early as 30 years of age in humans.

Also Known As:

Networked: 1492 relevant articles (14 outcomes, 123 trials/studies)

Relationship Network

Bio-Agent Context: Research Results

Experts

1.	Lopera, Francisco: 38 articles (12/2022 - 08/2001)
2.	Reiman, Eric M: 15 articles (01/2021 - 12/2012)
3.	Quiroz, Yakeel T: 14 articles (12/2022 - 12/2012)
4.	Sisodia, Sangram S: 14 articles (01/2019 - 01/2002)
5.	Jia, Jianping: 12 articles (10/2020 - 11/2002)
6.	Berezovska, Oksana: 11 articles (06/2022 - 03/2004)
7.	Mattson, Mark P: 11 articles (01/2021 - 05/2002)
8.	Tariot, Pierre N: 11 articles (01/2021 - 12/2012)
9.	Baena, Ana: 10 articles (12/2022 - 01/2017)
10.	Sepulveda-Falla, Diego: 10 articles (11/2022 - 03/2011)

Related Diseases

1.	Alzheimer Disease (Alzheimer's Disease) 01/01/2011 - "Comparison of presenilin 1 and sporadic Alzheimer's disease groups revealed significantly greater thalamic retention in the presenilin 1 group and significantly greater frontotemporal retention in the sporadic Alzheimer's disease group. " 02/23/2022 - "This study describes a 44-year-old German male with early-onset Alzheimer's disease as a result of a M139V presenilin 1 mutation. " 01/01/2020 - "Observational studies suggested an association of the Presenilin-1 (PSEN1) genotype with neuroimaging markers within Alzheimer's disease. " 01/01/2020 - "In the present study, a novel mutation in the presenilin 1 gene was discovered in an Iraq-native patient with early-onset Alzheimer's disease, who presented with speech impairment and memory decline at age 46 years. " 01/01/2017 - "In the present study, a novel mutation in exon 7 of presenilin 1 (Leu232Pro) was discovered in a Korean patient with early-onset Alzheimer's disease, who represented memory decline at 37 years of age, followed by impairment in spatial activity and concentrations and personality changes. "
2.	Memory Disorders (Memory Loss) 01/01/2021 - "Interestingly, genetic inactivation of presenilin 1 (PS1) or both PS genes in mutant human Tau transgenic mice exacerbates memory deficits by accelerating phosphorylation and aggregation of tau in excitatory neurons of vulnerable AD brain regions (e.g., hippocampus, cortex and amygdala). " 11/01/2019 - "The presenilin 1 and 2 conditional double knockout (PS cDKO) mice exhibit AD-like phenotypes including obvious neuroinflammatory responses and synaptic dysfunction and memory deficits. " 02/01/2023 - "In vivo, we found that Rk3 improved spatial learning and memory deficit in precursor protein (APP)/presenilin 1 (PS1) double transgenic mouse model of AD. " 01/01/2021 - "In this study, the presenilin 1 and 2 conditional double knockout (PS cDKO) mice, exhibited a series of AD-like pathology, robust neuroinflammatory responses, and memory deficits, were used to evaluate the potential neuroprotective effect of EA at Baihui (GV 20) and Shenting (GV 24) by behavioral testing, electrophysiology recording, and molecular biology analyzing. " 10/17/2023 - "Human Presenilin-1 delivered by AAV9 rescues impaired γ-secretase activity, memory deficits, and neurodegeneration in Psen mutant mice."
3.	Cognitive Dysfunction 01/01/2021 - "Two hundred eleven participants (105 presenilin-1 [PSEN1] E280A mutation carriers, 16 with cognitive impairment; 106 non-carriers) underwent magnetic resonance imaging. " 12/01/2020 - "The presenilin-1 (PSEN1) L226F mutation has been linked to very early onset of prominent behavioral and psychiatric disturbances followed by cognitive decline within a few years. " 08/01/2018 - "Significantly (p < 0.05) decreased APP, ADAM 10 while increased BACE1, Presenilin 1, Aβ and LPO were observed in CKD with cognitive dysfunction like AD subjects compared to other groups. " 01/01/2022 - "Here, we study data on two types of dementia at Mild Cognitive Impairment (MCI) stage-familial AD patients (E280A mutation of the presenilin-1 gene) and elderly MCI patients at high risk of sporadic AD, both with age-matched controls. " 01/01/2023 - "Spastic Paraplegia and Cognitive Impairment Due to a De Novo Pathogenic Variant in Presenilin-1."
4.	Amyloidosis 05/01/2009 - "7ND expressed in APP/presenilin-1 (APP/PS1) bigenic mice reduced astro/microgliosis, beta-amyloidosis, including suppression of both fibrillar and oligomer Abeta accumulation, and improved spatial learning. " 04/01/2013 - "The current study, although small-scale, suggests increased DKI metrics, in the absence of alterations in diffusion tensor imaging metrics in the cortex and thalamus of APP/presenilin 1 mice with established amyloidosis. " 02/01/2013 - "Our current study extended our previous findings by examining cognition via (1) the rotarod test, (2) a 2-day version of the radial-arm water maze test, and (3) a subsequent observation in an open pool platform test to characterize the effects of monthly peripheral HUCBC infusion (1×10(6) cells/μL) into the transgenic PSAPP mouse model of cerebral amyloidosis (bearing mutant human APP and presenilin-1 transgenes) from 6 to 12 months of age. " 01/01/2007 - "BACE1 and mutated presenilin-1 differently modulate Abeta40 and Abeta42 levels and cerebral amyloidosis in APPDutch transgenic mice." 08/01/2001 - "Brain Abeta amyloidosis in APPsw mice induces accumulation of presenilin-1 and tau."
5.	Amyloid Plaque 06/01/2015 - "In contrast, deltaE9 mice with mutant APP and mutant presenilin-1 develop amyloid plaques early but show typical cognitive deficits in old age. " 11/12/2014 - "Our team has established the Presenilin-1 Val97Leu mutant transgenic (PS1V97L) AD mouse model with the intraneuronal Aβ oligomer as the potential initiator for other pathologies, but without extracellular amyloid plaque formation. " 09/06/2013 - "Although amyloid plaques were observed using NT4X-167 in 5XFAD transgenic mice, it barely reacted with plaques in the brain of sporadic AD patients and familial cases with the Arctic, Swedish and the presenilin-1 PS1Δ9 mutation. " 04/01/2013 - "We hypothesized that the presence of amyloid plaques in the brain of APP/presenilin 1 mice leads to higher diffusion kurtosis measures due to increased microstructural complexity. " 09/01/2011 - "Studying more than 6000 amyloid plaques immunostained for total Aβ (Aβt), Aβ40 or Aβ42, we show here that Aβ40 FD could efficiently differentiate between (i) AD patients and aged-control individuals (P<0.001); (ii) sporadic and familial AD due to presenilin-1 or APP (A692G) mutations (P<0.001); and (iii) three transgenic mouse models of different genotypes (P<0.001). "

Related Drugs and Biologics

1.	Amyloid (Amyloid Fibrils)
2.	Proteins (Proteins, Gene)
3.	Amyloid Precursor Protein Secretases (beta-Secretase)
4.	Presenilin-2
5.	ferulic acid (sodium ferulate)
6.	Streptozocin (Streptozotocin)
7.	Bromocriptine (Parlodel)
8.	Antioxidants
9.	Endocannabinoids
10.	NF-E2-Related Factor 2

Related Therapies and Procedures

1.	Transplantation
2.	Therapeutics
3.	Drug Therapy (Chemotherapy)
4.	Diet Therapy (Therapy, Diet)
5.	Electroacupuncture