The amyloid cascade hypothesis: an updated critical review

KP Kepp, NK Robakis, PF Høilund-Carlsen, SL Sensi… - Brain, 2023 - academic.oup.com
Results from recent clinical trials of antibodies that target amyloid-β (Aβ) for Alzheimer's
disease have created excitement and have been heralded as corroboration of the amyloid …

The genetic landscape of Alzheimer disease: clinical implications and perspectives

C Van Cauwenberghe, C Van Broeckhoven… - Genetics in …, 2016 - nature.com
The search for the genetic factors contributing to Alzheimer disease (AD) has evolved
tremendously throughout the years. It started from the discovery of fully penetrant mutations …

Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers

L Brase, SF You, R D'Oliveira Albanus… - Nature …, 2023 - nature.com
Genetic studies of Alzheimer disease (AD) have prioritized variants in genes related to the
amyloid cascade, lipid metabolism, and neuroimmune modulation. However, the cell …

Interactions of pathological proteins in neurodegenerative diseases

TL Spires-Jones, J Attems, DR Thal - Acta neuropathologica, 2017 - Springer
Neurodegenerative diseases such as Alzheimer's disease (AD), frontotemporal lobar
degeneration (FTD), Lewy body disease (LBD), Parkinson's disease (PD), and amyotrophic …

[HTML][HTML] Molecular genetics of early-onset Alzheimer's disease revisited

R Cacace, K Sleegers, C Van Broeckhoven - Alzheimer's & dementia, 2016 - Elsevier
As the discovery of the Alzheimer's disease (AD) genes, APP, PSEN1, and PSEN2, in
families with autosomal dominant early-onset AD (EOAD), gene discovery in familial EOAD …

A large panel of isogenic APP and PSEN1 mutant human iPSC neurons reveals shared endosomal abnormalities mediated by APP β-CTFs, not Aβ

D Kwart, A Gregg, C Scheckel, EA Murphy, D Paquet… - Neuron, 2019 - cell.com
Familial Alzheimer's disease (fAD) results from mutations in the amyloid precursor protein
(APP) and presenilin (PSEN1 and PSEN2) genes. Here we leveraged recent advances in …

Tau protein hyperphosphorylation and aggregation in Alzheimer's disease and other tauopathies, and possible neuroprotective strategies

G Šimić, M Babić Leko, S Wray, C Harrington, I Delalle… - Biomolecules, 2016 - mdpi.com
Abnormal deposition of misprocessed and aggregated proteins is a common final pathway
of most neurodegenerative diseases, including Alzheimer's disease (AD). AD is …

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

EH Corder, AM Saunders, WJ Strittmatter… - Science, 1993 - science.org
The apolipoprotein E type 4 allele (APOE-ε4) is genetically associated with the common late
onset familial and sporadic forms of Alzheimer's disease (AD). Risk for AD increased from …

Association of apolipoprotein E allele ϵ4 with late‐onset familial and sporadic Alzheimer's disease

AM Saunders, WJ Strittmatter, D Schmechel… - Neurology, 1993 - AAN Enterprises
Apolipoprotein E, type ϵ4 allele (APOE ϵ4), is associated with late-onset familial
Alzheimer's disease (AD). There is high avidity and specific binding of amyloid β-peptide …

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

R Sherrington, EI Rogaev, Y Liang, EA Rogaeva… - Nature, 1995 - nature.com
Some cases of Alzheimer's disease are inherited as an autosomal dominant trait. Genetic
linkage studies have mapped a locus (AD3) associated with susceptibility to a very …