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
Vascular models of Alzheimer's disease: An overview of recent in vitro models of the blood-brain barrier.
Takeuchi LE et al.
Neurobiology of Disease, 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
Mitochondrial dynamics and bioenergetics in Alzheimer's induced pluripotent stem cell-derived neurons.
MacMullen C et al.
Brain : a Journal of Neurology, 2025
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 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
A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer's Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis.
Yang Y et al.
International Journal of Molecular Sciences, 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
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
PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.
Yang Y et al.
International Journal of Molecular Sciences, 2022
Aβ profiles generated by Alzheimer's disease causing PSEN1 variants determine the pathogenicity of the mutation and predict age at disease onset.
Petit D et al.
Molecular Psychiatry, 2022
Brain transcriptomes of zebrafish and mouse Alzheimer's disease knock-in models imply early disrupted energy metabolism.
Barthelson K et al.
Disease Models & Mechanisms, 2022
PSEN2 Mutation Spectrum and Novel Functionally Validated Mutations in Alzheimer's Disease: Data from PUMCH Dementia Cohort.
Dong L et al.
Journal of Alzheimer's Disease : Jad, 2022
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
Genetic Insights into Alzheimer's Disease.
Latimer CS et al.
Annual Review of Pathology, 2021
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
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
Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol.
Mega A et al.
Alzheimer's Research & Therapy, 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
Next Generation Sequencing Analysis in Early Onset Dementia Patients.
Bonvicini C et al.
Journal of Alzheimer's Disease : Jad, 2019
Loss of Neuroprotective Factors in Neurodegenerative Dementias: The End or the Starting Point?
Benussi L et al.
Frontiers in Neuroscience, 2017
Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool.
Sannerud R et al.
Cell, 2016
Evaluating pathogenic dementia variants in posterior cortical atrophy.
Carrasquillo MM et al.
Neurobiology of Aging, 2016
Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.
Blauwendraat C et al.
Neurobiology of Aging, 2016
Probable novel PSEN2 Pro123Leu mutation in a Chinese Han family of Alzheimer's disease.
Xia M et al.
Neurobiology of Aging, 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
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
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 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
Ca2+ dysregulation in neurons from transgenic mice expressing mutant presenilin 2.
Kipanyula MJ et al.
Aging Cell, 2012
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
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
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