The genetics and neuropathology of Alzheimer's disease

GD Schellenberg, TJ Montine - Acta neuropathologica, 2012 - Springer
Here we review the genetic causes and risks for Alzheimer's disease (AD). Early work
identified mutations in three genes that cause AD: APP, PSEN1 and PSEN2. Although …

Genetic markers of Alzheimer's disease

M Nikolac Perkovic, N Pivac - Frontiers in Psychiatry: Artificial Intelligence …, 2019 - Springer
Alzheimer's disease is a complex and heterogeneous, severe neurodegenerative disorder
and the predominant form of dementia, characterized by cognitive disturbances, behavioral …

Mitochondrial hypermetabolism precedes impaired autophagy and synaptic disorganization in App knock-in Alzheimer mouse models

L Naia, M Shimozawa, E Bereczki, X Li, J Liu… - Molecular …, 2023 - nature.com
Accumulation of amyloid β-peptide (Aβ) is a driver of Alzheimer's disease (AD). Amyloid
precursor protein (App) knock-in mouse models recapitulate AD-associated Aβ pathology …

Cryo-EM structures of amyloid-β 42 filaments from human brains

Y Yang, D Arseni, W Zhang, M Huang, S Lövestam… - Science, 2022 - science.org
Filament assembly of amyloid-β peptides ending at residue 42 (Aβ42) is a central event in
Alzheimer's disease. Here, we report the cryo–electron microscopy (cryo-EM) structures of …

Single App knock-in mouse models of Alzheimer's disease

T Saito, Y Matsuba, N Mihira, J Takano, P Nilsson… - Nature …, 2014 - nature.com
Experimental studies of Alzheimer's disease have largely depended on transgenic mice
overexpressing amyloid precursor protein (APP). These mice, however, suffer from artificial …

APP substrate ectodomain defines amyloid‐β peptide length by restraining γ‐secretase processivity and facilitating product release

M Koch, T Enzlein, SY Chen, D Petit, S Lismont… - The EMBO …, 2023 - embopress.org
Sequential proteolysis of the amyloid precursor protein (APP) by γ‐secretases generates
amyloid‐β (Aβ) peptides and defines the proportion of short‐to‐long Aβ peptides, which is …

Amyloid precursor protein metabolism and inflammation markers in preclinical Alzheimer disease

D Alcolea, P Martínez-Lage, P Sánchez-Juan… - Neurology, 2015 - AAN Enterprises
Objective: To investigate CSF markers involved in amyloid precursor protein processing,
neuronal damage, and neuroinflammation in the preclinical stages of Alzheimer disease …

Confluence of α-synuclein, tau, and β-amyloid pathologies in dementia with Lewy bodies

M Colom-Cadena, E Gelpi, S Charif… - … of Neuropathology & …, 2013 - academic.oup.com
Dementia with Lewy bodies (DLB) is pathologically characterized by α-synuclein aggregates
in the brain. Most patients with DLB also show cerebral Alzheimer disease-type pathology …

Longitudinal cerebrospinal fluid biomarker trajectories along the Alzheimer's disease continuum in the BIOMARKAPD study

A Lleó, D Alcolea, P Martínez-Lage, P Scheltens… - Alzheimer's & …, 2019 - Elsevier
Introduction Within-person trajectories of cerebrospinal fluid (CSF) biomarkers in
Alzheimer's disease (AD) are not well defined. Methods We included 467 subjects from the …

Comparison of memory, affective behavior, and neuropathology in APPNLGF knock-in mice to 5xFAD and APP/PS1 mice

A Locci, H Orellana, G Rodriguez, M Gottliebson… - Behavioural brain …, 2021 - Elsevier
Transgenic mouse models of Aβ amyloidosis generated by knock-in of a humanized Aβ
sequence can offer some advantages over the transgenic models that overexpress amyloid …