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
Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.
Bao J et al.
Biomedicines, 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
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
Neurodegenerative Disorders of Alzheimer, Parkinsonism, Amyotrophic Lateral Sclerosis and Multiple Sclerosis: An Early Diagnostic Approach for Precision Treatment.
Pathak N et al.
Metabolic Brain Disease, 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
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.
Perrone F et al.
Genome Medicine, 2021
Early-onset familial Alzheimer's disease in a family with mutation of presenilin 2 gene.
Li C et al.
Zhong Nan Da Xue Xue Bao. Yi Xue Ban = Journal of Central South University. Medical Sciences, 2021
Genetic Insights into Alzheimer's Disease.
Latimer CS et al.
Annual Review of Pathology, 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
Inhibition of 37/67kDa Laminin-1 Receptor Restores APP Maturation and Reduces Amyloid-β in Human Skin Fibroblasts from Familial Alzheimer's Disease.
Bhattacharya A et al.
Journal of Personalized Medicine, 2020
Insights into membrane-bound presenilin 2 from all-atom molecular dynamics simulations.
Dehury B et al.
Journal of Biomolecular Structure & Dynamics, 2020
Pathogenic Aβ generation in familial Alzheimer's disease: novel mechanistic insights and therapeutic implications.
Trambauer J et al.
Current Opinion in Neurobiology, 2020
Next Generation Sequencing Analysis in Early Onset Dementia Patients.
Bonvicini C et al.
Journal of Alzheimer's Disease : Jad, 2019
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
Lanoiselée HM et al.
Plos Medicine, 2017
Restricted Location of PSEN2/γ-Secretase Determines Substrate Specificity and Generates an Intracellular Aβ Pool.
Sannerud R et al.
Cell, 2016
Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.
Nicolas G et al.
European Journal of Human Genetics : Ejhg, 2016
Novel Mutation (Gly212Val) in the PS2 Gene Associated with Early-Onset Familial Alzheimer's Disease.
Marín-Muñoz J et al.
Journal of Alzheimer's Disease : Jad, 2016
Exome sequencing in dementia with Lewy bodies.
Keogh MJ et al.
Translational Psychiatry, 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
Clinical and neuroimaging characterization of Chinese dementia patients with PSEN1 and PSEN2 mutations.
Shi Z et al.
Dementia and Geriatric Cognitive Disorders, 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
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
Subjects harboring presenilin familial Alzheimer's disease mutations exhibit diverse white matter biochemistry alterations.
Roher AE et al.
American Journal of Neurodegenerative Disease, 2013
Clinical, biological, and imaging features of monogenic Alzheimer's Disease.
Pilotto A et al.
Biomed Research International, 2013
APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38.
Moro ML et al.
Acta Neuropathologica, 2012
The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.
Wallon D et al.
Journal of Alzheimer's Disease : Jad, 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
Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.
Kretner B et al.
The Journal of Biological Chemistry, 2011
Presenilin-2 mutation causes early amyloid accumulation and memory impairment in a transgenic mouse model of Alzheimer's disease.
Toda T et al.
Journal of Biomedicine & Biotechnology, 2011
Neuropathology of the recessive A673V APP mutation: Alzheimer disease with distinctive features.
Giaccone G et al.
Acta Neuropathologica, 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