Associated Papers
A novel presenilin 1 nucleotide mutation (M139I) and its pathological function in a Chinese family with early-onset Alzheimer's disease.
Li X et al.
Journal of Alzheimer's Disease : Jad, 2026
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
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 2025
Familial Alzheimer's disease-associated PSEN1 mutations affect neurodevelopment through increased Notch signaling.
Hurley EM et al.
Stem Cell Reports, 2023
Amyloid precursor protein 𝛽CTF accumulates in synapses in sporadic and genetic forms of Alzheimer's disease.
Ferrer-Raventós P et al.
Neuropathology and Applied Neurobiology, 2023
Presenilin 1 Modulates Acetylcholinesterase Trafficking and Maturation.
Cortés-Gómez MÁ 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
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
Patient-Derived Fibroblasts With Presenilin-1 Mutations, That Model Aspects of Alzheimer's Disease Pathology, Constitute a Potential Object for Early Diagnosis.
Lopez-Toledo G et al.
Frontiers in Aging Neuroscience, 2022
Dedifferentiation and neuronal repression define familial Alzheimer's disease.
Caldwell AB et al.
Science Advances, 2020
Assessing circular RNAs in Alzheimer's disease and frontotemporal lobar degeneration.
Cervera-Carles L et al.
Neurobiology of Aging, 2020
Pathogenic Aβ generation in familial Alzheimer's disease: novel mechanistic insights and therapeutic implications.
Trambauer J et al.
Current Opinion in Neurobiology, 2020
Fluid Biomarkers and APOE Status of Early Onset Alzheimer's Disease Variants: A Systematic Review and Meta-Analysis.
Kaur G et al.
Journal of Alzheimer's Disease : Jad, 2020
Identification of a Rare PSEN1 Mutation (Thr119Ile) in Late-Onset Alzheimer's Disease With Early Presentation of Behavioral Disturbance.
Zhang S et al.
Frontiers in Psychiatry, 2020
A Novel PSEN1 M139L Mutation Found in a Chinese Pedigree with Early-Onset Alzheimer's Disease Increases Aβ42/Aβ40 ratio.
Qiu Q et al.
Journal of Alzheimer's Disease : Jad, 2019
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
Cerebral amyloid angiopathy in Down syndrome and sporadic and autosomal-dominant Alzheimer's disease.
Carmona-Iragui M et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2017
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
The effects of different familial Alzheimer's disease mutations on APP processing in vivo.
Thordardottir S et al.
Alzheimer's Research & Therapy, 2017
White Matter Abnormalities Track Disease Progression in PSEN1 Autosomal Dominant Alzheimer's Disease.
Sánchez-Valle R et al.
Journal of Alzheimer's Disease : Jad, 2016
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Qualitative changes in human γ-secretase underlie familial Alzheimer's disease.
Szaruga M et al.
The Journal of Experimental Medicine, 2015
Evolving brain structural changes in PSEN1 mutation carriers.
Sala-Llonch R et al.
Neurobiology of Aging, 2015
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Low cerebrospinal fluid concentration of mitochondrial DNA in preclinical Alzheimer disease.
Podlesniy P et al.
Annals of Neurology, 2013
Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease.
Pera M et al.
Acta Neuropathologica, 2013
Evolving brain functional abnormalities in PSEN1 mutation carriers: a resting and visual encoding fMRI study.
Sala-Llonch R et al.
Journal of Alzheimer's Disease : Jad, 2013
Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.
Jin SC et al.
Alzheimer's Research & Therapy, 2012
The amyloid-β isoform pattern in cerebrospinal fluid in familial PSEN1 M139T- and L286P-associated Alzheimer's disease.
Portelius E et al.
Molecular Medicine Reports, 2012
PSEN1 mutation carriers present lower cerebrospinal fluid amyoid-β42 levels than sporadic early-onset Alzheimer's disease patients but no differences in neuronal injury biomarkers.
Balasa M et al.
Journal of Alzheimer's Disease : Jad, 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
Serum progranulin levels in patients with frontotemporal lobar degeneration and Alzheimer's disease: detection of GRN mutations in a Spanish cohort.
Antonell A et al.
Journal of Alzheimer's Disease : Jad, 2012
Cerebrospinal fluid biomarkers in Alzheimer's disease families with PSEN1 mutations.
Fortea J et al.
Neuro-degenerative Diseases, 2011
Increased cortical thickness and caudate volume precede atrophy in PSEN1 mutation carriers.
Fortea J et al.
Journal of Alzheimer's Disease : Jad, 2010
Presenilin 1 interacts with acetylcholinesterase and alters its enzymatic activity and glycosylation.
Silveyra MX et al.
Molecular and Cellular Biology, 2008
A role for presenilin in post-stress regulation: effects of presenilin mutations on Ca2+ currents in Drosophila.
Lu Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2007
Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.
Larner AJ et al.
Journal of Neurology, 2006
Amino- and carboxyl-terminal mutants of presenilin 1 cause neuronal cell death through distinct toxic mechanisms: Study of 27 different presenilin 1 mutants.
Hashimoto Y et al.
Journal of Neuroscience Research, 2004
Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study.
Larner AJ et al.
European Journal of Neurology, 2003
[Clinical characteristics of a family with early-onset Alzheimer's disease associated with a presenilin 1 mutation (M139T)].
Lleó A et al.
Medicina Clinica, 2002
Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain.
Queralt R et al.
Neuroscience Letters, 2001
Presenile because of presenilin: the presenilin genes and early onset Alzheimer's disease.
Haass C
Current Opinion in Neurology, 1996
The presenilin genes: a new gene family involved in Alzheimer disease pathology.
Cruts M et al.
Human Molecular Genetics, 1996
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
Campion D et al.
Human Molecular Genetics, 1995
Protein misfolding in Alzheimer's and Parkinson's disease: genetics and molecular mechanisms.
Forloni G et al.
Neurobiology of Aging, 0