Associated Papers
Isogenic cortical organoids enable precision targeting of APP variant-specific pathways in Alzheimer's disease.
Grass T et al.
Biorxiv : the Preprint Server for Biology, 2026
Effect of the Icelandic Mutation APPA673T in the Murine APP Gene on Phenotype of Line 66 Tau Mice.
Anschuetz A et al.
Biomolecules, 2025
Protein aggregation in neurodegenerative diseases.
Wang J et al.
Chinese Medical Journal, 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
Implications of Mucin-Type O-Glycosylation in Alzheimer's Disease.
Vela Navarro N et al.
Molecules (basel, Switzerland), 2025
A Novel APP Knock-In Mouse Model to Study the Protective Effects of the Icelandic Mutation In Vivo.
Valle ML
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2025
The AβA2V paradigm: From molecular insights to therapeutic strategies in Alzheimer's disease and primary tauopathies.
Diomede L et al.
Pharmacological Research, 2025
A review on recent advances in Alzheimer's disease: The role of synaptic plasticity.
Kenaan N et al.
Aims Neuroscience, 2025
Transmissible long-term neuroprotective and pro-cognitive effects of 1-42 beta-amyloid with A2T icelandic mutation in an Alzheimer's disease mouse model.
Célestine M et al.
Molecular Psychiatry, 2024
The Icelandic Mutation (APP-A673T) Is Protective against Amyloid Pathology In Vivo.
Shimohama S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2024
Recent advances in Alzheimer disease genetics.
Nicolas G
Current Opinion in Neurology, 2024
Probable Novel APP Met671Leu Mutation in a Chinese Han Family with Early-Onset Alzheimer's Disease.
Ma L et al.
Neuromolecular Medicine, 2024
E674Q (Shanghai APP mutant), a novel amyloid precursor protein mutation, in familial late-onset Alzheimer's disease.
Zhang Y et al.
Genes & Diseases, 2024
Alzheimer's Disease; Mechanism, Mutations, and Applications of Nano-Medicine.
Maisam M et al.
Frontiers in Bioscience (landmark Edition), 2023
Rare Amyloid Precursor Protein Point Mutations Recapitulate Worldwide Migration and Admixture in Healthy Individuals: Implications for the Study of Neurodegeneration.
Abondio P et al.
International Journal of Molecular Sciences, 2022
The novel I213S mutation in PSEN1 gene is located in a hotspot codon associated with familial early-onset Alzheimer's disease.
Catania M et al.
Neurobiology of Aging, 2022
Insertion of the Icelandic Mutation (A673T) by Prime Editing: A Potential Preventive Treatment for Familial and Sporadic Alzheimer's Disease.
Tremblay G et al.
The Crispr Journal, 2022
Genomics and Functional Genomics of Alzheimer's Disease.
Kamboh MI
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2022
Clinical characteristics and genotype-phenotype correlation analysis of familial Alzheimer's disease patients with pathogenic/likely pathogenic amyloid protein precursor mutations.
Liu Y et al.
Frontiers in Aging Neuroscience, 2022
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
Refining the amyloid β peptide and oligomer fingerprint ambiguities in Alzheimer's disease: Mass spectrometric molecular characterization in brain, cerebrospinal fluid, blood, and plasma.
Michno W et al.
Journal of Neurochemistry, 2021
Bridging heterogeneous mutation data to enhance disease gene discovery.
Zhou K et al.
Briefings in Bioinformatics, 2021
Alzheimer's Disease: A Molecular View of β-Amyloid Induced Morbific Events.
Mohamed Asik R et al.
Biomedicines, 2021
The Protective A673T Mutation of Amyloid Precursor Protein (APP) in Alzheimer's Disease.
Xia Q et al.
Molecular Neurobiology, 2021
How understudied populations have contributed to our understanding of Alzheimer's disease genetics.
Dehghani N et al.
Brain : a Journal of Neurology, 2021
Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases.
Perrone F et al.
Genome Medicine, 2021
Long runs of homozygosity are associated with Alzheimer's disease.
Moreno-Grau S et al.
Translational Psychiatry, 2021
Early-Onset Alzheimer's Disease: What Is Missing in Research?
Ayodele T et al.
Current Neurology and Neuroscience Reports, 2021
Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants.
Hoogmartens J et al.
Alzheimer's & Dementia (amsterdam, Netherlands), 2021
Late-onset vs nonmendelian early-onset Alzheimer disease: A distinction without a difference?
Reitz C et al.
Neurology. Genetics, 2020
Amyloidogenic processing of Alzheimer's disease β-amyloid precursor protein induces cellular iron retention.
Tsatsanis A et al.
Molecular Psychiatry, 2020
Impact of A2V Mutation and Histidine Tautomerism on Aβ42 Monomer Structures from Atomistic Simulations.
Li H et al.
Journal of Chemical Information and Modeling, 2020
Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.
Hsu S et al.
Neurobiology of Disease, 2020
New Insights into the Molecular Bases of Familial Alzheimer's Disease.
D'Argenio V et al.
Journal of Personalized Medicine, 2020
Pathogenic PSEN1 Glu184Gly Mutation in a Family from Thailand with Probable Autosomal Dominant Early Onset Alzheimer's Disease.
Senanarong V et al.
Diagnostics (basel, Switzerland), 2020
Analysis of neurodegenerative disease-causing genes in dementia with Lewy bodies.
Orme T et al.
Acta Neuropathologica Communications, 2020
Mosaic Somatic Gene Recombination as a Potentially Unifying Hypothesis for Alzheimer's Disease.
Kaeser GE et al.
Frontiers in Genetics, 2020
The protective mutation A673T in amyloid precursor protein gene decreases Aβ peptides production for 14 forms of Familial Alzheimer's Disease in SH-SY5Y cells.
Guyon A et al.
Plos One, 2020
Novel amyloid precursor protein mutation, Val669Leu ("Seoul APP"), in a Korean patient with early-onset Alzheimer's disease.
Bagyinszky E et al.
Neurobiology of Aging, 2019
Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.
Park JS et al.
Nature Communications, 2019
The vexing complexity of the amyloidogenic pathway.
Castro MA et al.
Protein Science : a Publication of the Protein Society, 2019
Mutations of beta-amyloid precursor protein alter the consequence of Alzheimer's disease pathogenesis.
Li NM et al.
Neural Regeneration Research, 2019
Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.
Bi C et al.
Aging and Disease, 2019
Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease.
Mastromoro G et al.
Neuro-degenerative Diseases, 2019
Somatic APP gene recombination in Alzheimer's disease and normal neurons.
Lee MH et al.
Nature, 2018