Condition: ACNE INVERSA, FAMILIAL, 3


rs1566650594 in PSEN1 gene and ACNE INVERSA, FAMILIAL, 3 PMID 20634584 2010 Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.

PMID 28350801 2017 APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.

PMID 26194182 2015 De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.

PMID 9521418 1998 Presenilin mutations in Alzheimer's disease.

PMID 27930341 2017 Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.

PMID 10447269 1999 A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online.

PMID 17197420 2007 The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.

PMID 27206484 2016 Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.

PMID 24773620 2014 U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21.

PMID 11524469 2001 Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.

PMID 10468510 1999 The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors.

PMID 26923592 2016 Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.

PMID 11710891 2001 A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.

PMID 23114514 2013 Frequency and clinicopathological characteristics of presenilin 1 Gly206Ala mutation in Puerto Rican Hispanics with dementia.

PMID 18797263 2008 Prominent neuroleptic sensitivity in a case of early-onset Alzheimer disease due to presenilin-1 G206A mutation.

PMID 27073747 2016 The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.

PMID 22312439 2012 Rare variants in APP, PSEN1 and PSEN2 increase risk for AD in late-onset Alzheimer's disease families.

PMID 25333068 2014 Disease-related mutations among Caribbean Hispanics with familial dementia.

PMID 16897084 2006 The A431E mutation in PSEN1 causing familial Alzheimer's disease originating in Jalisco State, Mexico: an additional fifteen families.

PMID 20145736 2010 Distinct cerebrospinal fluid amyloid beta peptide signatures in sporadic and PSEN1 A431E-associated familial Alzheimer's disease.

PMID 21373759 2011 Alzheimer disease-related presenilin-1 variants exert distinct effects on monoamine oxidase-A activity in vitro.

PMID 16628450 2006 Founder effect for the Ala431Glu mutation of the presenilin 1 gene causing early-onset Alzheimer's disease in Mexican families.

PMID 7550356 1995 The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families.

PMID 22461631 2012 Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase.

PMID 25471389 2015 Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation.

PMID 22766738 2012 Phenotypic profile of early-onset familial Alzheimer's disease caused by presenilin-1 E280A mutation.

PMID 24217025 2014 The E280A presenilin mutation reduces voltage-gated sodium channel levels in neuronal cells.

PMID 9384602 1998 Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease.

PMID 25921538 2015 APP metabolism regulates tau proteostasis in human cerebral cortex neurons.

PMID 27777022 2016 Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.

PMID 25174650 2015 Mutation analysis of patients with neurodegenerative disorders using NeuroX array.

PMID 9680315 1997 Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing.

PMID 7596406 1995 Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.

PMID 12493631 2003 Transgenic mice expressing the PS1-A246E mutation: effects on spatial learning, exploration, anxiety, and motor coordination.

PMID 24418614 2014 Lysosomal alkalization and dysfunction in human fibroblasts with the Alzheimer's disease-linked presenilin 1 A246E mutation can be reversed with cAMP.

PMID 8910898 1996 A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.

PMID 15205973 2004 Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation.

PMID 9189043 1997 A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.

PMID 27793474 2017 Clinical, imaging, pathological, and biochemical characterization of a novel presenilin 1 mutation (N135Y) causing Alzheimer's disease.

PMID 9225696 1997 Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.

PMID 15776278 2005 Novel mutations and repeated findings of mutations in familial Alzheimer disease.

PMID 18580586 2008 Early onset familial Alzheimer Disease with spastic paraparesis, dysarthria, and seizures and N135S mutation in PSEN1.

PMID 11684347 2001 A novel presenilin mutation (M233V) causing very early onset Alzheimer's disease with Lewy bodies.

PMID 27014058 2016 Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.

PMID 29316780 2018 PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.

PMID 8634712 1995 Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.

PMID 27100200 2016 Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.

PMID 17288597 2007 Dual roles of the transmembrane protein p23/TMP21 in the modulation of amyloid precursor protein metabolism.

PMID 21559374 2011 Presenilin/γ-secretase regulates neurexin processing at synapses.

PMID 17545141 2007 Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins.

PMID 27100199 2016 Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds.

PMID 24880964 2014 Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.

PMID 24011544 2014 Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.

PMID 25741723 2015 Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.

PMID 17553989 2007 Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.

PMID 9196071 1997 Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides.

PMID 22115042 2012 MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins.

PMID 20484632 2010 Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling.

PMID 23843529 2013 Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.