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
Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.
Acosta-Uribe J et al.
Npj Dementia, 2026
Case Report: Acute Psychiatric Behavioral Disturbance in a Patient with Presenilin 1 Gene Mutation Associated with Familial Alzheimer's Disease.
Xia Y et al.
Neurology and Therapy, 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
Presenilin-1 Familial Alzheimer Mutations Impair γ-Secretase Cleavage of APP Through Stabilized Enzyme-Substrate Complex Formation.
Devkota S et al.
Biomolecules, 2025
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Research Square, 2025
Mitochondrial dynamics and bioenergetics in Alzheimer's induced pluripotent stem cell-derived neurons.
MacMullen C et al.
Brain : a Journal of Neurology, 2025
Frequency of variants in Mendelian Alzheimer's disease genes within the Alzheimer's Disease Sequencing Project.
Wang D et al.
Journal of Alzheimer's Disease : Jad, 2025
Clinical Significance of Early-Onset Alzheimer's Mutations in Asian and Western Populations: A Scoping Review.
Poniah P et al.
Genes, 2025
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Increased G3BP2-Tau interaction in tauopathies is a natural defense against Tau aggregation.
Wang C et al.
Neuron, 2023
Aβ and tau prions feature in the neuropathogenesis of Down syndrome.
Condello C et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
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
Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.
Willumsen N et al.
Brain Pathology (zurich, Switzerland), 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Presenilin 1 Gene Mutation (M139V) in a German Family with Early-Onset Alzheimer's Disease: A Case Report.
Fuentes M et al.
Archives of Clinical Neuropsychology : the Official Journal of the National Academy of Neuropsychologists, 2022
Presenilin Is Essential for ApoE Secretion, a Novel Role of Presenilin Involved in Alzheimer's Disease Pathogenesis.
Islam S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2022
Plasma amyloid-β ratios in autosomal dominant Alzheimer's disease: the influence of genotype.
O'Connor A et al.
Brain : a Journal of Neurology, 2021
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
The role of genetics in neurodegenerative dementia: a large cohort study in South China.
Jiao B et al.
Npj Genomic Medicine, 2021
5-hydroxymethylcytosine is dynamically regulated during forebrain organoid development and aberrantly altered in Alzheimer's disease.
Kuehner JN et al.
Cell Reports, 2021
Alzheimer's-causing mutations shift Aβ length by destabilizing γ-secretase-Aβn interactions.
Szaruga M et al.
Cell, 2021
Familial Alzheimer's Disease Mutations in PSEN1 Lead to Premature Human Stem Cell Neurogenesis.
Arber C et al.
Cell Reports, 2021
Genetic testing in dementia - utility and clinical strategies.
Koriath CAM et al.
Nature Reviews. Neurology, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Familial Alzheimer's disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta.
Arber C et al.
Molecular Psychiatry, 2020
Contribution of the Presenilins in the cell biology, structure and function of γ-secretase.
Escamilla-Ayala A et al.
Seminars in Cell & Developmental Biology, 2020
CD33 and SIGLECL1 Immunoglobulin Superfamily Involved in Dementia.
Rendina A et al.
Journal of Neuropathology and Experimental Neurology, 2020
Pathogenic Aβ generation in familial Alzheimer's disease: novel mechanistic insights and therapeutic implications.
Trambauer J et al.
Current Opinion in Neurobiology, 2020
A presenilin-1 mutation causes Alzheimer disease without affecting Notch signaling.
Zhang S et al.
Molecular Psychiatry, 2020
Effects of gene mutation and disease progression on representative neural circuits in familial Alzheimer's disease.
Quan M et al.
Alzheimer's Research & Therapy, 2020
Identification of a novel PSEN1 Gly111Val missense mutation in a Chinese pedigree with early-onset Alzheimer's disease.
Qiu Q et al.
Neurobiology of Aging, 2020
PSEN1, PSEN2, and APP mutations in 404 Chinese pedigrees with familial Alzheimer's disease.
Jia L et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 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
Conformational Dynamics of Transmembrane Domain 3 of Presenilin 1 Is Associated with the Trimming Activity of γ-Secretase.
Cai T et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2019
Gamma secretase modulators and BACE inhibitors reduce Aβ production without altering gene expression in Alzheimer's disease iPSC-derived neurons and mice.
Cusulin C et al.
Molecular and Cellular Neurosciences, 2019