Associated Papers
Cytokine-induced reprogramming of human macrophages toward Alzheimer's disease-relevant molecular and cellular phenotypes in vitro.
Podleśny-Drabiniok A et al.
Cell Reports, 2025
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Gene replacement-Alzheimer's disease (GR-AD): Modeling the genetics of human dementias in mice.
Benzow K et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
Aβ and tau prions feature in the neuropathogenesis of Down syndrome.
Condello C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
PSEN1 c.1292C<A Variant and Early-Onset Alzheimer's Disease: A Scoping Review.
Orozco-Barajas M et al.
Frontiers in Aging Neuroscience, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Genetic analyses of early-onset Alzheimer's disease using next generation sequencing.
Giau VV et al.
Scientific Reports, 2019
The Whole Exome Sequencing Clarifies the Genotype- Phenotype Correlations in Patients with Early-Onset Dementia.
Xu Y et al.
Aging and Disease, 2018
Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.
Karch CM et al.
Alzheimer's Research & Therapy, 2018
Aβ42/Aβ40 Ratios of Presenilin 1 Mutations Correlate with Clinical Onset of Alzheimer's Disease.
Tang N et al.
Journal of Alzheimer's Disease : Jad, 2018
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
Sun L et al.
Proceedings of the National Academy of Sciences of the United States of America, 2017
Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction.
An SS et al.
Bmc Neurology, 2016
Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency.
Reddy K et al.
Cell Reports, 2016
Conformational Changes in Transmembrane Domain 4 of Presenilin 1 Are Associated with Altered Amyloid-β 42 Production.
Tominaga A et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016
Evidence for Mitochondrial UPR Gene Activation in Familial and Sporadic Alzheimer's Disease.
Beck JS et al.
Current Alzheimer Research, 2016
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Laminar distribution of β-amyloid (Aβ) peptide deposits in the frontal lobe in familial and sporadic Alzheimer's disease.
Armstrong RA
Folia Neuropathologica, 2015
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 2014
Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease.
El Kadmiri N et al.
Neuroscience, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
Upregulated function of mitochondria-associated ER membranes in Alzheimer disease.
Area-Gomez E et al.
The Embo Journal, 2012
Presenilin-1 mutation Alzheimer's disease: a genetic epilepsy syndrome?
Larner AJ
Epilepsy & Behavior : E&b, 2011
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
Ryan NS et al.
Biomarkers in Medicine, 2010
Wnt signaling in Alzheimer's disease: up or down, that is the question.
Boonen RA et al.
Ageing Research Reviews, 2009
Presenilin-dependent gamma-secretase-mediated control of p53-associated cell death in Alzheimer's disease.
Alves da Costa C et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Mean age of onset in familial Alzheimer's disease is determined by amyloid beta 42.
Duering M et al.
Neurobiology of Aging, 2005
Genetic and molecular aspects of Alzheimer's disease shed light on new mechanisms of transcriptional regulation.
Marambaud P et al.
Genes, Brain, and Behavior, 2005
Prominent behavioural and psychiatric symptoms in early-onset Alzheimer's disease in a sib pair with the presenilin-1 gene R269G mutation.
Doran M et al.
European Archives of Psychiatry and Clinical Neuroscience, 2004
[A Japanese family with familial Alzheimer's disease associated with presenilin 1 mutation: relationship between younger age of onset and ApoE gene polymorphism].
Marui W et al.
No to Shinkei = Brain and Nerve, 2003
Tau load is associated with apolipoprotein E genotype and the amount of amyloid beta protein, Abeta40, in sporadic and familial Alzheimer's disease.
Thaker U et al.
Neuropathology and Applied Neurobiology, 2003
Potassium channels: molecular defects, diseases, and therapeutic opportunities.
Shieh CC et al.
Pharmacological Reviews, 2000
Brain expression of presenilins in sporadic and early-onset, familial Alzheimer's disease.
Mathews PM et al.
Molecular Medicine (cambridge, Mass.), 2000
Alzheimer's disease due to an intronic presenilin-1 (PSEN1 intron 4) mutation: A clinicopathological study.
Janssen JC et al.
Brain : a Journal of Neurology, 2000
Normal proteolytic processing of the presenilins.
Hartmann H et al.
Methods in Molecular Medicine, 2000
Presenilin 1 controls gamma-secretase processing of amyloid precursor protein in pre-golgi compartments of hippocampal neurons.
Annaert WG et al.
The Journal of Cell Biology, 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.
Gómez-Isla T et al.
Brain : a Journal of Neurology, 1999
Processing of wild-type and mutant familial Alzheimer's disease-associated presenilin-1 in cultured neurons.
Weihl CC et al.
Journal of Neurochemistry, 1999
Proteolytic release and nuclear translocation of Notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations.
Song W et al.
Proceedings of the National Academy of Sciences of the United States of America, 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.
Sugiyama N et al.
Human Mutation, 1999
Destabilization of beta-catenin by mutations in presenilin-1 potentiates neuronal apoptosis.
Zhang Z et al.
Nature, 1998
Lack of specific association of presenilin 1 (PS-1) protein with plaques and tangles in Alzheimer's disease.
Xia MQ et al.
Journal of the Neurological Sciences, 1998