Associated Papers
Identification of presenilin mutations that have sufficient gamma-secretase proteolytic activity to mediate Notch signaling but disrupt organelle and neuronal health.
Ashkavand Z et al.
Neurobiology of Disease, 2025
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
Presenilin-1 Familial Alzheimer Mutations Impair γ-Secretase Cleavage of APP Through Stabilized Enzyme-Substrate Complex Formation.
Devkota S et al.
Biomolecules, 2025
Novel insights into presenilin 1 mutation associated with a distinctive dementia phenotype and cotton wool plaques.
Yamagata HD et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2024
Mutational Landscape of Alzheimer's Disease and Frontotemporal Dementia: Regional Variances in Northern, Central, and Southern Italy.
Saraceno C et al.
International Journal of Molecular Sciences, 2024
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.
Bartoletti-Stella A et al.
Frontiers in Aging Neuroscience, 2022
A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.
Bagyinszky E et al.
Brain Sciences, 2021
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.
Bartoletti-Stella A et al.
Neurobiology of Aging, 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
Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.
Grigorenko AP et al.
Oncotarget, 2017
Identification of tetrahydrocarbazoles as novel multifactorial drug candidates for treatment of Alzheimer's disease.
Honarnejad K et al.
Translational Psychiatry, 2014
Genetic heterogeneity in Alzheimer disease and implications for treatment strategies.
Ringman JM et al.
Current Neurology and Neuroscience Reports, 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
A novel PSEN1 mutation (K239N) associated with Alzheimer's disease with wide range age of onset and slow progression.
Lladó A et al.
European Journal of Neurology, 2010
Requirement for small side chain residues within the GxGD-motif of presenilin for gamma-secretase substrate cleavage.
Pérez-Revuelta BI et al.
Journal of Neurochemistry, 2010
Clinical and genetic analysis of a Chilean family with early-onset autosomal dominant Alzheimer's disease.
Sinning M et al.
Journal of Alzheimer's Disease : Jad, 2010
The 28-amino acid form of an APLP1-derived Abeta-like peptide is a surrogate marker for Abeta42 production in the central nervous system.
Yanagida K et al.
Embo Molecular Medicine, 2009
Early structural changes in individuals at risk of familial Alzheimer's disease: a volumetry and magnetization transfer MR imaging study.
Ginestroni A et al.
Journal of Neurology, 2009
Contribution of presenilin transmembrane domains 6 and 7 to a water-containing cavity in the gamma-secretase complex.
Tolia A et al.
The Journal of Biological Chemistry, 2006
Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.
Theuns J et al.
Human Mutation, 2006
Deducing the transmembrane domain organization of presenilin-1 in gamma-secretase by cysteine disulfide cross-linking.
Kornilova AY et al.
Biochemistry, 2006
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum.
Dermaut B et al.
Trends in Genetics : Tig, 2005
Two domains within the first putative transmembrane domain of presenilin 1 differentially influence presenilinase and gamma-secretase activity.
Brunkan AL et al.
Journal of Neurochemistry, 2005
Identification of new presenilin gene mutations in early-onset familial Alzheimer disease.
Tedde A et al.
Archives of Neurology, 2003
The role of the presenilin-1 homologue gene sel-12 of Caenorhabditis elegans in apoptotic activities.
Kitagawa N et al.
The Journal of Biological Chemistry, 2003
Pure spastic paraparesis associated with a novel presenilin 1 R278K mutation.
Assini A et al.
Neurology, 2003
Presenilin 1 mutations activate gamma 42-secretase but reciprocally inhibit epsilon-secretase cleavage of amyloid precursor protein (APP) and S3-cleavage of notch.
Chen F et al.
The Journal of Biological Chemistry, 2002
FAD-linked mutations in presenilin 1 alter the length of Abeta peptides derived from betaAPP transmembrane domain mutants.
Murphy MP et al.
Biochimica Et Biophysica Acta, 2002
Presenilin mutations line up along transmembrane alpha-helices.
Hardy J et al.
Neuroscience Letters, 2001
Genetic markers in the diagnosis of Alzheimer's disease.
Rogaeva E et al.
Journal of Alzheimer's Disease : Jad, 2001
A loss of function mutant of the presenilin homologue SEL-12 undergoes aberrant endoproteolysis in Caenorhabditis elegans and increases abeta 42 generation in human cells.
Okochi M et al.
The Journal of Biological Chemistry, 2000
The presenilin 1 C92S mutation increases abeta 42 production.
Lewis PA et al.
Biochemical and Biophysical Research Communications, 2000
Mutation of the conserved N-terminal cysteine (Cys92) of human presenilin 1 causes increased A beta42 secretion in mammalian cells but impaired Notch/lin-12 signalling in C. elegans.
Zhang DM et al.
Neuroreport, 2000
Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms.
Forloni G et al.
Neurobiology of Aging, 0