Associated Papers
A Novel Rapidly Progressive Parkinsonism Phenotype with Ophthalmoplegia Associated with the APP p.D678H Mutation.
Liu CY et al.
Movement Disorders Clinical Practice, 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
Whole genomic analysis reveals atypical non-homologous off-target large structural variants induced by CRISPR-Cas9-mediated genome editing.
Tsai HH et al.
Nature Communications, 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
Endoplasmic reticulum stress induces Alzheimer disease-like phenotypes in the neuron derived from the induced pluripotent stem cell with D678H mutation on amyloid precursor protein.
Devina T et al.
Journal of Neurochemistry, 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
Modeling congenital cataract in vitro using patient-specific induced pluripotent stem cells.
Lyu D et al.
Npj Regenerative Medicine, 2021
Genetic study of young-onset dementia using targeted gene panel sequencing in Taiwan.
Hsu JL et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2021
Induced pluripotent stem cells (iPSCs) as game-changing tools in the treatment of neurodegenerative disease: Mirage or reality?
Yousefi N et al.
Journal of Cellular Physiology, 2020
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
Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current status.
Qin Q et al.
Molecular Genetics & Genomic Medicine, 2020
Mechanisms of neurodegeneration - Insights from familial Alzheimer's disease.
Chávez-Gutiérrez L et al.
Seminars in Cell & Developmental Biology, 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
Assessing the therapeutic potential of Graptopetalum paraguayense on Alzheimer's disease using patient iPSC-derived neurons.
Wu PC et al.
Scientific Reports, 2019
GSKIP-Mediated Anchoring Increases Phosphorylation of Tau by PKA but Not by GSK3beta via cAMP/PKA/GSKIP/GSK3/Tau Axis Signaling in Cerebrospinal Fluid and iPS Cells in Alzheimer Disease.
Ko HJ et al.
Journal of Clinical Medicine, 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
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
Tau PET With 18F-THK-5351 Taiwan Patients With Familial Alzheimer's Disease With the APP p.D678H Mutation.
Huang CC et al.
Frontiers in Neurology, 2019
Progress of Brain Amyloid Deposition in Familial Alzheimer's Disease with Taiwan D678H APP Mutation.
Weng YC et al.
Journal of Alzheimer's Disease : Jad, 2018
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
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
A Novel AβPP M722K Mutation Affects Amyloid-β Secretion and Tau Phosphorylation and May Cause Early-Onset Familial Alzheimer's Disease in Chinese Individuals.
Wang Q et al.
Journal of Alzheimer's Disease : Jad, 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
Identification of a novel mutation in the presenilin 1 gene in a Chinese Alzheimer's disease family.
Deng B et al.
Neurotoxicity Research, 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
Amyloid-beta (Aβ) D7H mutation increases oligomeric Aβ42 and alters properties of Aβ-zinc/copper assemblies.
Chen WT et al.
Plos One, 2012