Associated Papers
The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.
Liu H et al.
Brain : a Journal of Neurology, 2025
Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH.
Bao J et al.
Biomedicines, 2025
Endogenously generated Dutch-type Aβ nonfibrillar aggregates dysregulate presynaptic neurotransmission in the absence of detectable inflammation.
Castranio EL et al.
Biorxiv : the Preprint Server for Biology, 2025
E674Q (Shanghai APP mutant), a novel amyloid precursor protein mutation, in familial late-onset Alzheimer's disease.
Zhang Y et al.
Genes & Diseases, 2024
Case of Autosomal Dominant Alzheimer Disease With Negative Findings From PiB-PET Examination.
Sun H et al.
Neurology. Genetics, 2024
Analysis of Non-Amyloidogenic Mutations in APP Supports Loss of Function Hypothesis of Alzheimer's Disease.
Kim M et al.
International Journal of Molecular Sciences, 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
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
Lysine acetylation regulates the interaction between proteins and membranes.
Okada AK et al.
Nature Communications, 2021
Clinical Phenotype and Mutation Spectrum of Alzheimer's Disease with Causative Genetic Mutation in a Chinese Cohort.
Mao C et al.
Current Alzheimer Research, 2021
Mutational analysis in familial Alzheimer's disease of Han Chinese in Taiwan with a predominant mutation PSEN1 p.Met146Ile.
Lin YS et al.
Scientific Reports, 2020
Genetic Analysis of Chinese Patients with Early-Onset Dementia Using Next-Generation Sequencing.
Han LH et al.
Clinical Interventions in Aging, 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
APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.
Giau VV et al.
International Journal of Molecular Sciences, 2019
Modeling Alzheimer's Disease by Induced Pluripotent Stem Cells Carrying APP D678H Mutation.
Chang KH et al.
Molecular Neurobiology, 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
Genetics of β-Amyloid Precursor Protein in Alzheimer's Disease.
Tcw J et al.
Cold Spring Harbor Perspectives in Medicine, 2017
Genes associated with Alzheimer's disease: an overview and current status.
Giri M et al.
Clinical Interventions in Aging, 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
Mutations, associated with early-onset Alzheimer's disease, discovered in Asian countries.
Bagyinszky E et al.
Clinical Interventions in Aging, 2016
Cellular functions of the amyloid precursor protein from development to dementia.
van der Kant R et al.
Developmental Cell, 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
Differential regulation of amyloid precursor protein sorting with pathological mutations results in a distinct effect on amyloid-β production.
Lin YC et al.
Journal of Neurochemistry, 2014
Effect of the English familial disease mutation (H6R) on the monomers and dimers of Aβ40 and Aβ42.
Viet MH et al.
Acs Chemical Neuroscience, 2014
A novel APP mutation (D678H) in a Taiwanese patient exhibiting dementia and cerebral microvasculopathy.
Lan MY et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2014
The genetics of Alzheimer's disease.
Bagyinszky E et al.
Clinical Interventions in Aging, 2014
Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type.
Kamp JA et al.
Reviews in the Neurosciences, 2014
Familial Alzheimer's disease mutations differentially alter amyloid β-protein oligomerization.
Gessel MM et al.
Acs Chemical Neuroscience, 2012
Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer's disease.
Weggen S et al.
Alzheimer's Research & Therapy, 2012
Structural dynamics of the ΔE22 (Osaka) familial Alzheimer's disease-linked amyloid β-protein.
Inayathullah M et al.
Amyloid : the International Journal of Experimental and Clinical Investigation : the Official Journal of the International Society of Amyloidosis, 2011
Mutational analysis in early-onset familial dementia in the Japanese population. The role of PSEN1 and MAPT R406W mutations.
Ikeuchi T et al.
Dementia and Geriatric Cognitive Disorders, 2008
Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.
Theuns J et al.
Human Mutation, 2006
Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease.
Wakutani Y et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2004
Amyloid precursor protein gene mutations responsible for early-onset autosomal dominant Alzheimer's disease.
Kowalska A
Folia Neuropathologica, 2003
[Analysis of causative genes and genetic risk factor in Alzheimer's disease].
Urakami K et al.
Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics, 2001