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
Understanding Neurodegenerative Diseases From the -Omics Perspective: Lessons Learnt.
Ibanez L et al.
Annals of Neurology, 2026
HOPS disruption impairs APP trafficking and processing, promoting exosomal secretion of APP-CTFs.
Draper D et al.
Neurobiology of Disease, 2026
The Icelandic Mutation in the Murine APP Gene, mAPPA673T, on Amyloid-β Plaque Burden in the 5×FAD Alzheimer Model.
Anschuetz A et al.
Journal of Integrative Neuroscience, 2026
Lysosomal protease-mediated APP degradation is pH-dependent, mutation-sensitive, and facilitates tau proteolysis.
Ackley C et al.
Molecular Neurodegeneration Advances, 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
Tangles and Plaques: A deep dive into the pathological hallmarks of Alzheimer's disease.
Vanya et al.
Neuroscience, 2025
Selective agonism of GPR34 stimulates microglial uptake and clearance of amyloid β fibrils.
Etani H et al.
Alzheimer's Research & Therapy, 2025
Linkage and association of preserved cognitive function in the midwestern Amish at a higher genetic risk of Alzheimer's disease.
Dorfsman DA et al.
Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2025
Lysosomal Protease-Mediated APP Degradation is pH-Dependent, Mutation-Sensitive, and Facilitates Tau Proteolysis.
Ackley C et al.
Research Square, 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
Amyloid precursor protein carboxy-terminal fragments as catalyzers of endolysosomal dysfunction in Alzheimer's disease.
Vrancx C et al.
Trends in Neurosciences, 2025
Protective genetic variants against Alzheimer's disease.
Marino C et al.
The Lancet. Neurology, 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
Evaluating pathogenicity of variants of unknown significance in APP, PSEN1, and PSEN2.
Marsh JA et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 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
Protective Genes Against Alzheimer's Disease: Case Review and Therapeutic Implications.
Hossain N et al.
Dementia and Neurocognitive Disorders, 2025
The impact of rare genetic variants on Alzheimer disease.
De Deyn L et al.
Nature Reviews. Neurology, 2025
The Spectrum of Genetic Risk in Alzheimer Disease.
Karagas N et al.
Neurology. Genetics, 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
Leveraging large-scale multi-omics evidences to identify therapeutic targets from genome-wide association studies.
Lessard S et al.
Bmc Genomics, 2024
Haploinsufficiency and Alzheimer's Disease: The Possible Pathogenic and Protective Genetic Factors.
Bagyinszky E et al.
International Journal of Molecular Sciences, 2024
Precise and efficient insertion of A673T mutation in APP gene using MSYM.
Xia Q et al.
Genes & Diseases, 2024
Frequency of Variants in Mendelian Alzheimer's Disease Genes within the Alzheimer's Disease Sequencing Project (ADSP).
Wang D et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
APP antisense oligonucleotides reduce amyloid-β aggregation and rescue endolysosomal dysfunction in Alzheimer's disease.
Hung C et al.
Brain : a Journal of Neurology, 2024
The Role of RIN3 Gene in Alzheimer's Disease Pathogenesis: a Comprehensive Review.
Meshref M et al.
Molecular Neurobiology, 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
Differential and substrate-specific inhibition of γ-secretase by the C-terminal region of ApoE2, ApoE3, and ApoE4.
Hou X et al.
Neuron, 2023
Protective Alzheimer's disease-associated APP A673T variant predominantly decreases sAPPβ levels in cerebrospinal fluid and 2D/3D cell culture models.
Wittrahm R et al.
Neurobiology of Disease, 2023
Human 8-cell embryos enable efficient induction of disease-preventive mutations without off-target effect by cytosine base editor.
Wei Y et al.
Protein & Cell, 2023
Resistant and Resilient mutations in protection against familial Alzheimer's disease: learning from nature.
Sepulveda-Falla D
Molecular Neurodegeneration, 2023
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.
Schuermans N et al.
Neurology. Genetics, 2023
The evolution of comprehensive genetic analysis in neurology: Implications for precision medicine.
Papadopoulou E et al.
Journal of the Neurological Sciences, 2023
The complex genetic architecture of Alzheimer's disease: novel insights and future directions.
Andrews SJ et al.
Ebiomedicine, 2023
The η-secretase-derived APP fragment ηCTF is localized in Golgi, endosomes and extracellular vesicles and contributes to Aβ production.
Afram E et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Specific Mutations near the Amyloid Precursor Protein Cleavage Site Increase γ-Secretase Sensitivity and Modulate Amyloid-β Production.
Suzuki R et al.
International Journal of Molecular Sciences, 2023
Prime Editing for Human Gene Therapy: Where Are We Now?
Godbout K et al.
Cells, 2023
The Binding of Different Substrate Molecules at the Docking Site and the Active Site of γ-Secretase Can Trigger Toxic Events in Sporadic and Familial Alzheimer's Disease.
Svedružić ŽM et al.
International Journal of Molecular Sciences, 2023
An Alternative View of Familial Alzheimer's Disease Genetics.
Lardelli M
Journal of Alzheimer's Disease : Jad, 2023