Associated Papers
The relationship between amyloid-β peptide spectrum and the spastic paraparesis phenotype in autosomal dominant Alzheimer's disease.
Zoltowska KM et al.
Alzheimer's Research & Therapy, 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
Effects of presenilin-1 familial Alzheimer's disease mutations on γ-secretase activation for cleavage of amyloid precursor protein.
Do HN et al.
Communications Biology, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer's Disease on the Orthosteric Site.
Soto-Ospina A et al.
Frontiers in Molecular Biosciences, 2021
Pathogenic Aβ generation in familial Alzheimer's disease: novel mechanistic insights and therapeutic implications.
Trambauer J et al.
Current Opinion in Neurobiology, 2020
Aβ43-producing PS1 FAD mutants cause altered substrate interactions and respond to γ-secretase modulation.
Trambauer J et al.
Embo Reports, 2020
Two Novel Mutations and a de novo Mutation in PSEN1 in Early-onset Alzheimer's Disease.
Li YS et al.
Aging and Disease, 2019
Bridging Genomics to Phenomics at Atomic Resolution through Variation Spatial Profiling.
Wang C et al.
Cell Reports, 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
Association between variant amyloid deposits and motor deficits in FAD-associated presenilin-1 mutations: A systematic review.
Zhang S et al.
Neuroscience and Biobehavioral Reviews, 2015
Soluble γ-secretase modulators selectively inhibit the production of the 42-amino acid amyloid β peptide variant and augment the production of multiple carboxy-truncated amyloid β species.
Wagner SL et al.
Biochemistry, 2014
A novel PSEN1 mutation in a patient with sporadic early-onset Alzheimer's disease and prominent cerebellar ataxia.
Testi S et al.
Journal of Alzheimer's Disease : Jad, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Early-onset familial Alzheimer's disease related to presenilin 1 mutation resembling autosomal dominant spinocerebellar ataxia.
Braga-Neto P et al.
Journal of Neurology, 2013
Presenilin-1 mutations in Alzheimer's disease: an update on genotype-phenotype relationships.
Larner AJ
Journal of Alzheimer's Disease : Jad, 2013
Deposition of hyperphosphorylated tau in cerebellum of PS1 E280A Alzheimer's disease.
Sepulveda-Falla D et al.
Brain Pathology (zurich, Switzerland), 2011
Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.
Kretner B et al.
The Journal of Biological Chemistry, 2011
Using a genetically targeted sensor to investigate the role of presenilin-1 in ER Ca2+ levels and dynamics.
McCombs JE et al.
Molecular Biosystems, 2010
Three-amino acid spacing of presenilin endoproteolysis suggests a general stepwise cleavage of gamma-secretase-mediated intramembrane proteolysis.
Fukumori A et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010
A novel presenilin1 mutation (Q223R) associated with early onset Alzheimer's disease, dysarthria and spastic paraparesis and decreased Abeta levels in CSF.
Uttner I et al.
European Journal of Neurology, 2010
gamma-secretases: from cell biology to therapeutic strategies.
Bergmans BA et al.
The Lancet. Neurology, 2010
Clinical-genetic correlations in familial Alzheimer's disease caused by presenilin 1 mutations.
Gómez-Tortosa E et al.
Journal of Alzheimer's Disease : Jad, 2010
Variations in the neuropathology of familial Alzheimer's disease.
Shepherd C et al.
Acta Neuropathologica, 2009
Generation of Abeta38 and Abeta42 is independently and differentially affected by familial Alzheimer disease-associated presenilin mutations and gamma-secretase modulation.
Page RM et al.
The Journal of Biological Chemistry, 2008
The genetics of very early onset Alzheimer disease.
Filley CM et al.
Cognitive and Behavioral Neurology : Official Journal of the Society for Behavioral and Cognitive Neurology, 2007
Redox proteomics identification of oxidatively modified brain proteins in inherited Alzheimer's disease: an initial assessment.
Butterfield DA et al.
Journal of Alzheimer's Disease : Jad, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Pathological and clinical heterogeneity of presenilin 1 gene mutations.
Menéndez M
Journal of Alzheimer's Disease : Jad, 2004
Conserved residues within the putative active site of gamma-secretase differentially influence enzyme activity and inhibitor binding.
Wrigley JD et al.
Journal of Neurochemistry, 2004
[Alzheimer's disease due to presenilin mutations].
Tabira T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2004
Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease.
Miklossy J et al.
Neurobiology of Aging, 2003