Associated Papers
Presenilin Loss Impairs Synaptic Transmission and Causes Axonal Degeneration through Ryanodine Receptor Dysfunction, Independent of γ-Secretase Activity.
Du X et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 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
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.
Liu L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024
The phospholamban R14del generates pathogenic aggregates by impairing autophagosome-lysosome fusion.
Vafiadaki E et al.
Cellular and Molecular Life Sciences : Cmls, 2024
The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.
Liu L et al.
Biorxiv : the Preprint Server for Biology, 2024
Unraveling Presenilin 2 Functions in a Knockout Zebrafish Line to Shed Light into Alzheimer's Disease Pathogenesis.
Barazzuol L et al.
Cells, 2023
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2022
Calcium Signaling and Mitochondrial Function in Presenilin 2 Knock-Out Mice: Looking for Any Loss-of-Function Phenotype Related to Alzheimer's Disease.
Rossi A et al.
Cells, 2021
Plasma Extracellular Vesicle Size and Concentration Are Altered in Alzheimer's Disease, Dementia With Lewy Bodies, and Frontotemporal Dementia.
Longobardi A et al.
Frontiers in Cell and Developmental Biology, 2021
APP, PSEN1, and PSEN2 Variants in Alzheimer's Disease: Systematic Re-evaluation According to ACMG Guidelines.
Xiao X et al.
Frontiers in Aging Neuroscience, 2021
Structural Predictive Model of Presenilin-2 Protein and Analysis of Structural Effects of Familial Alzheimer's Disease Mutations.
Soto-Ospina A et al.
Biochemistry Research International, 2021
Exploring the Role of PSEN Mutations in the Pathogenesis of Alzheimer's Disease.
Kabir MT et al.
Neurotoxicity Research, 2020
Presenilin-2 and Calcium Handling: Molecules, Organelles, Cells and Brain Networks.
Pizzo P et al.
Cells, 2020
Insights into membrane-bound presenilin 2 from all-atom molecular dynamics simulations.
Dehury B et al.
Journal of Biomolecular Structure & Dynamics, 2020
Defective Mitochondrial Pyruvate Flux Affects Cell Bioenergetics in Alzheimer's Disease-Related Models.
Rossi A et al.
Cell Reports, 2020
PSEN2 (presenilin 2) mutants linked to familial Alzheimer disease impair autophagy by altering Ca2+ homeostasis.
Fedeli C et al.
Autophagy, 2019
Familial Alzheimer's disease-linked presenilin mutants and intracellular Ca2+ handling: A single-organelle, FRET-based analysis.
Greotti E et al.
Cell Calcium, 2019
A Review of the Familial Alzheimer's Disease Locus PRESENILIN 2 and Its Relationship to PRESENILIN 1.
Jiang H et al.
Journal of Alzheimer's Disease : Jad, 2018
Loss of Neuroprotective Factors in Neurodegenerative Dementias: The End or the Starting Point?
Benussi L et al.
Frontiers in Neuroscience, 2017
Hereditary spastic paraplegia-linked REEP1 modulates endoplasmic reticulum/mitochondria contacts.
Lim Y et al.
Annals of Neurology, 2015
Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.
Cai Y et al.
Clinical Interventions in Aging, 2015
Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease.
El Kadmiri N et al.
Neuroscience, 2014
Familial Alzheimer's disease sustained by presenilin 2 mutations: systematic review of literature and genotype-phenotype correlation.
Canevelli M et al.
Neuroscience and Biobehavioral Reviews, 2014
Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family.
Müller U et al.
Journal of Alzheimer's Disease : Jad, 2014
Involvement of presenilin holoprotein upregulation in calcium dyshomeostasis of Alzheimer's disease.
Honarnejad K et al.
Journal of Cellular and Molecular Medicine, 2013
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
Lack of evidence for presenilins as endoplasmic reticulum Ca2+ leak channels.
Shilling D et al.
The Journal of Biological Chemistry, 2012
Autosomal dominant Alzheimer's disease with early frontal lobe involvement associated with the Met239Ile mutation of Presenilin 2 gene.
Testi S et al.
Journal of Alzheimer's Disease : Jad, 2012
Cystatin C in Alzheimer's disease.
Kaur G et al.
Frontiers in Molecular Neuroscience, 2012
Cystatin C is released in association with exosomes: a new tool of neuronal communication which is unbalanced in Alzheimer's disease.
Ghidoni R et al.
Neurobiology of Aging, 2011
Presenilins as endoplasmic reticulum calcium leak channels and Alzheimer's disease pathogenesis.
Supnet C et al.
Science China. Life Sciences, 2011
Genetics of Alzheimer's disease: an insight into presenilins and apolipoprotein E instigated neurodegeneration.
Obulesu M et al.
The International Journal of Neuroscience, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP.
Guerreiro RJ et al.
Neurobiology of Aging, 2010
Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.
Jayadev S et al.
Brain : a Journal of Neurology, 2010
Correlating familial Alzheimer's disease gene mutations with clinical phenotype.
Ryan NS et al.
Biomarkers in Medicine, 2010
Presenilin-2 dampens intracellular Ca2+ stores by increasing Ca2+ leakage and reducing Ca2+ uptake.
Brunello L et al.
Journal of Cellular and Molecular Medicine, 2009
A novel Italian presenilin 2 gene mutation with prevalent behavioral phenotype.
Marcon G et al.
Journal of Alzheimer's Disease : Jad, 2009
Complexes of amyloid-beta and cystatin C in the human central nervous system.
Mi W et al.
Journal of Alzheimer's Disease : Jad, 2009
High content analysis of gamma-secretase activity reveals variable dominance of presenilin mutations linked to familial Alzheimer's disease.
Florean C et al.
Biochimica Et Biophysica Acta, 2008
Mechanism of Ca2+ disruption in Alzheimer's disease by presenilin regulation of InsP3 receptor channel gating.
Cheung KH et al.
Neuron, 2008
Presenilin-mediated signal transduction.
Cowburn RF et al.
Physiology & Behavior, 2007
Presenilin 2 mutations alter cystatin C trafficking in mouse primary neurons.
Ghidoni R et al.
Neurobiology of Aging, 2007
Presenilin mutations linked to familial Alzheimer's disease reduce endoplasmic reticulum and Golgi apparatus calcium levels.
Zatti G et al.
Cell Calcium, 2006
Cognitive deficits in familial Alzheimer's disease associated with M239V mutation of presenilin 2.
Giovagnoli AR et al.
Dementia and Geriatric Cognitive Disorders, 2006
Reduction of Ca2+ stores and capacitative Ca2+ entry is associated with the familial Alzheimer's disease presenilin-2 T122R mutation and anticipates the onset of dementia.
Giacomello M et al.
Neurobiology of Disease, 2005
Atypical dementia associated with a novel presenilin-2 mutation.
Binetti G et al.
Annals of Neurology, 2003