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
Spectrum of γ-Secretase dysfunction as a unifying predictor of ADAD age at onset across PSEN1, PSEN2 and APP causal genes.
Fernández SG et al.
Molecular Neurodegeneration, 2025
Cortical neurodegeneration caused by Psen1 mutations is independent of Aβ.
Yan K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Presenilin: A Multi-Functional Molecule in the Pathogenesis of Alzheimer's Disease and Other Neurodegenerative Diseases.
Sun Y et al.
International Journal of Molecular Sciences, 2024
Presenilin-1 (PSEN1) Mutations: Clinical Phenotypes beyond Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2023
Genetics, Functions, and Clinical Impact of Presenilin-1 (PSEN1) Gene.
Bagaria J et al.
International Journal of Molecular Sciences, 2022
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.
Perrone F et al.
Genome Medicine, 2021
Amyloid-β1-43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations.
Perrone F et al.
Alzheimer's Research & Therapy, 2020
Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.
Senanarong V et al.
Diagnostics (basel, Switzerland), 2020
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
Pathogenic variants that alter protein code often disrupt splicing.
Soemedi R et al.
Nature Genetics, 2017
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
A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer's Disease Affects Amyloid-β Production and Tau Phosphorylation.
Dong J et al.
Journal of Alzheimer's Disease : Jad, 2017
Molecular genetics of early-onset Alzheimer's disease revisited.
Cacace R et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2016
Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.
Xia D et al.
Neuron, 2016
Evidence For and Against a Pathogenic Role of Reduced γ-Secretase Activity in Familial Alzheimer's Disease.
Jayne T et al.
Journal of Alzheimer's Disease : Jad, 2016
Genetic Disorders with Tau Pathology: A Review of the Literature and Report of Two Patients with Tauopathy and Positive Family Histories.
Tacik P et al.
Neuro-degenerative Diseases, 2016
Effect of Presenilin Mutations on APP Cleavage; Insights into the Pathogenesis of FAD.
Li N et al.
Frontiers in Aging Neuroscience, 2016
PSEN1 L226F mutation in a patient with early-onset Alzheimer's disease in Korea.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Analyzing and Quantifying the Gain-of-Function Enhancement of IP3 Receptor Gating by Familial Alzheimer's Disease-Causing Mutants in Presenilins.
Mak DO et al.
Plos Computational Biology, 2015
Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human disease.
Newman M et al.
Human Molecular Genetics, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Familial dementia with frontotemporal features associated with M146V presenilin-1 mutation.
Riudavets MA et al.
Brain Pathology (zurich, Switzerland), 2013
Genetic insights in Alzheimer's disease.
Bettens K et al.
The Lancet. Neurology, 2013
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
Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice.
Watanabe H et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2012
Different clinical phenotypes in siblings with a presenilin-1 P264L mutation.
Ishizuka T et al.
Dementia and Geriatric Cognitive Disorders, 2012
Presenilins in synaptic function and disease.
Ho A et al.
Trends in Molecular Medicine, 2011
Presenilins function in ER calcium leak and Alzheimer's disease pathogenesis.
Supnet C et al.
Cell Calcium, 2011
Presenilins as endoplasmic reticulum calcium leak channels and Alzheimer's disease pathogenesis.
Supnet C et al.
Science China. Life Sciences, 2011
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
Burgunder JM et al.
European Journal of 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
Presenilin/gamma-Secretase and Inflammation.
Saura CA
Frontiers in Aging Neuroscience, 2010
Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
Nelson O et al.
Journal of Alzheimer's Disease : Jad, 2010
Novel PSEN1 and PGRN mutations in early-onset familial frontotemporal dementia.
Bernardi L et al.
Neurobiology of Aging, 2009
The molecular basis of frontotemporal dementia.
Neumann M et al.
Expert Reviews in Molecular Medicine, 2009
[Alzheimer disease: autosomal dominant forms].
Guyant-Maréchal L et al.
Revue Neurologique, 2009
Interference with splicing of Presenilin transcripts has potent dominant negative effects on Presenilin activity.
Nornes S et al.
Human Molecular Genetics, 2008
Transcriptional regulation of the presenilin-1 gene: implication in Alzheimer's disease.
Das HK
Frontiers in Bioscience : a Journal and Virtual Library, 2008
Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1.
Nelson O et al.
The Journal of Clinical Investigation, 2007
Frontotemporal lobar degeneration: current concepts in the light of recent advances.
Kumar-Singh S et al.
Brain Pathology (zurich, Switzerland), 2007
Current insights into molecular mechanisms of Alzheimer disease and their implications for therapeutic approaches.
Van Broeck B et al.
Neuro-degenerative Diseases, 2007
Frontotemporal dementia and parkinsonism associated with the IVS1+1G->A mutation in progranulin: a clinicopathologic study.
Boeve BF et al.
Brain : a Journal of Neurology, 2006
"Frontal variant Alzheimer's disease": a reappraisal.
Larner AJ
Clinical Neurology and Neurosurgery, 2006
Two novel presenilin 1 gene mutations connected with frontotemporal dementia-like clinical phenotype: genetic and bioinformatic assessment.
Zekanowski C et al.
Experimental Neurology, 2006