Associated Papers
Hereditary Haemorrhagic Cerebrovascular Disease: Implications for Clinical Management.
Hou W et al.
Annals of Neurosciences, 2026
Cryo-EM studies of amyloid-β fibrils from human and murine brains carrying the Uppsala APP mutation (Δ690-695).
Zielinski M et al.
Acta Neuropathologica Communications, 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
Genetics of intracerebral hemorrhage.
Kimball TN et al.
Journal of Cerebral Blood Flow and Metabolism : Official Journal of the International Society of Cerebral Blood Flow and Metabolism, 2025
An unexpected discovery of a novel potentially pathogenic APP gene variant: a case report of slowly progressive Alzheimer's disease with prominent cerebral amyloid angiopathy.
Sykora M et al.
Frontiers in Neuroscience, 2025
Biological function of Aβ peptides revealed by analysis of membrane-association properties: Implications for Azheimer's disease pathogenesis.
Kim M et al.
Biochemical and Biophysical Research Communications, 2024
Eta-secretase-like processing of the amyloid precursor protein (APP) by the rhomboid protease RHBDL4.
Penalva YCM et al.
The Journal of Biological Chemistry, 2024
Clinical considerations in early-onset cerebral amyloid angiopathy.
Banerjee G et al.
Brain : a Journal of Neurology, 2023
Positron emission tomography and magnetic resonance imaging methods and datasets within the Dominantly Inherited Alzheimer Network (DIAN).
McKay NS et al.
Nature Neuroscience, 2023
Differential effects of familial Alzheimer's disease-causing mutations on amyloid precursor protein (APP) trafficking, proteolytic conversion, and synaptogenic activity.
Schilling S et al.
Acta Neuropathologica Communications, 2023
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders.
Schuermans N et al.
Neurology. Genetics, 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
Structural Determinant of β-Amyloid Formation: From Transmembrane Protein Dimerization to β-Amyloid Aggregates.
Papadopoulos N et al.
Biomedicines, 2022
Calabria as a Genetic Isolate: A Model for the Study of Neurodegenerative Diseases.
Bruno F et al.
Biomedicines, 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
Main features of hereditary cerebral amyloid angiopathies: A systematic review.
Biffi A
Cerebral Circulation - Cognition and Behavior, 2022
No Association between Single Nucleotide Polymorphisms (SNPs) of the Interferon-Induced Transmembrane Protein 3 (IFITM3) Gene and the Susceptibility of Alzheimer's Disease (AD).
Won SY et al.
Medicina (kaunas, Lithuania), 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Cerebral Small Vessel Disease in Sporadic and Familial Alzheimer Disease.
Kalaria RN et al.
The American Journal of Pathology, 2021
The Uppsala APP deletion causes early onset autosomal dominant Alzheimer's disease by altering APP processing and increasing amyloid β fibril formation.
Pagnon de la Vega M et al.
Science Translational Medicine, 2021
Mechanisms of neurodegeneration - Insights from familial Alzheimer's disease.
Chávez-Gutiérrez L et al.
Seminars in Cell & Developmental Biology, 2020
New Insights into the Molecular Bases of Familial Alzheimer's Disease.
D'Argenio V et al.
Journal of Personalized Medicine, 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
Brain somatic mutations observed in Alzheimer's disease associated with aging and dysregulation of tau phosphorylation.
Park JS et al.
Nature Communications, 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
Amyloid PET pattern with dementia and amyloid angiopathy in Taiwan familial AD with D678H APP mutation.
Huang CY et al.
Journal of the Neurological Sciences, 2019
Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.
Taipale M
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019
Cerebrovascular disorders associated with genetic lesions.
Karschnia P et al.
Cellular and Molecular Life Sciences : Cmls, 2019
Spatial patterns of neuroimaging biomarker change in individuals from families with autosomal dominant Alzheimer's disease: a longitudinal study.
Gordon BA et al.
The Lancet. Neurology, 2018
Influence of mismatched and bulged nucleotides on SNP-preferential RNase H cleavage of RNA-antisense gapmer heteroduplexes.
Magner D et al.
Scientific Reports, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease.
Tcw J et al.
Cold Spring Harbor Perspectives in Medicine, 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
APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review.
Sellal F et al.
Journal of Alzheimer's Disease : Jad, 2017
Alzheimer's Disease: From Genetic Variants to the Distinct Pathological Mechanisms.
Sun Q et al.
Frontiers in Molecular Neuroscience, 2017
Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series.
Ryan NS et al.
The Lancet. Neurology, 2016
Alzheimer's disease-associated mutations increase amyloid precursor protein resistance to γ-secretase cleavage and the Aβ42/Aβ40 ratio.
Xu TH et al.
Cell Discovery, 2016
Genetic determinants of white matter hyperintensities and amyloid angiopathy in familial Alzheimer's disease.
Ryan NS et al.
Neurobiology of Aging, 2015
Vascular cognitive impairment, dementia, aging and energy demand. A vicious cycle.
Popa-Wagner A et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2015
Neuropathology and biochemistry of Aβ and its aggregates in Alzheimer's disease.
Thal DR et al.
Acta Neuropathologica, 2015
Unfolded Protein Response and PERK Kinase as a New Therapeutic Target in the Pathogenesis of Alzheimer's Disease.
Rozpedek W et al.
Current Medicinal Chemistry, 2015
Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants.
Tiwari MK et al.
Journal of Alzheimer's Disease : Jad, 2015