Associated Papers
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
A New Presenilin 1 (Psen1) Mutation (p.Cys263Trp) as a Cause of Both Early and Late-Onset Alzheimer's Disease in a Large Italian Family.
Tortelli R et al.
International Journal of Molecular Sciences, 2021
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
Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.
Li N et al.
Frontiers in Aging Neuroscience, 2016
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
A novel presenilin 1 mutation (V261L) associated with presenile Alzheimer's disease and spastic paraparesis.
Jiménez Caballero PE et al.
European Journal of Neurology, 2008
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Amino- and carboxyl-terminal mutants of presenilin 1 cause neuronal cell death through distinct toxic mechanisms: Study of 27 different presenilin 1 mutants.
Hashimoto Y et al.
Journal of Neuroscience Research, 2004
Mutant presenilin 1 proteins induce cell death and reduce tau-dependent processes outgrowth.
Leroy K et al.
Neuroscience Letters, 2003
Increased tau phosphorylation but absence of formation of neurofibrillary tangles in mice double transgenic for human tau and Alzheimer mutant (M146L) presenilin-1.
Boutajangout A et al.
Neuroscience Letters, 2002
Presenilin 1 independently regulates beta-catenin stability and transcriptional activity.
Killick R et al.
The Journal of Biological Chemistry, 2001
Evidence that the beta-catenin nuclear translocation assay allows for measuring presenilin 1 dysfunction.
Van Gassen G et al.
Molecular Medicine (cambridge, Mass.), 2000
Alzheimer's disease presenilin-1 exon 9 deletion and L250S mutations sensitize SH-SY5Y neuroblastoma cells to hyperosmotic stress-induced apoptosis.
Tanii H et al.
Neuroscience, 2000
Twenty-nine missense mutations linked with familial Alzheimer's disease alter the processing of presenilin 1.
Murayama O et al.
Progress in Neuro-psychopharmacology & Biological Psychiatry, 1999
Presenilin 1 facilitates the constitutive turnover of beta-catenin: differential activity of Alzheimer's disease-linked PS1 mutants in the beta-catenin-signaling pathway.
Kang DE et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 1999
Presenilin 1 associates with glycogen synthase kinase-3beta and its substrate tau.
Takashima A et al.
Proceedings of the National Academy of Sciences of the United States of America, 1998
A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.
Gómez-Isla T et al.
Annals of Neurology, 1997
Presenile because of presenilin: the presenilin genes and early onset Alzheimer's disease.
Haass C
Current Opinion in Neurology, 1996
The presenilin genes: a new gene family involved in Alzheimer disease pathology.
Cruts M et al.
Human Molecular Genetics, 1996
Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms.
Forloni G et al.
Neurobiology of Aging, 0