Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

RA Saccon, RKA Bunton-Stasyshyn, EMC Fisher… - Brain, 2013 - academic.oup.com
Mutations in the gene superoxide dismutase 1 (SOD1) are causative for familial forms of the
neurodegenerative disease amyotrophic lateral sclerosis. When the first SOD1 mutations …

Superoxide dismutase 1 in health and disease: how a frontline antioxidant becomes neurotoxic

BG Trist, JB Hilton, DJ Hare, PJ Crouch… - Angewandte Chemie …, 2021 - Wiley Online Library
Cu/Zn superoxide dismutase (SOD1) is a frontline antioxidant enzyme catalysing superoxide
breakdown and is important for most forms of eukaryotic life. The evolution of aerobic …

Faulty autolysosome acidification in Alzheimer's disease mouse models induces autophagic build-up of Aβ in neurons, yielding senile plaques

JH Lee, DS Yang, CN Goulbourne, E Im… - Nature …, 2022 - nature.com
Autophagy is markedly impaired in Alzheimer's disease (AD). Here we reveal unique
autophagy dysregulation within neurons in five AD mouse models in vivo and identify its …

β-Secretase protein and activity are increased in the neocortex in Alzheimer disease

H Fukumoto, BS Cheung, BT Hyman… - Archives of …, 2002 - jamanetwork.com
Context Amyloid plaques, a major pathological feature of Alzheimer disease (AD), are
composed of an internal fragment of amyloid precursor protein (APP): the 4-kd amyloid-β …

BACE1, a major determinant of selective vulnerability of the brain to amyloid-β amyloidogenesis, is essential for cognitive, emotional, and synaptic functions

FM Laird, H Cai, AV Savonenko, MH Farah… - Journal of …, 2005 - Soc Neuroscience
A transmembrane aspartyl protease termed β-site APP cleavage enzyme 1 (BACE1) that
cleaves the amyloid-β precursor protein (APP), which is abundant in neurons, is required for …

Phosphorylation of the translation initiation factor eIF2α increases BACE1 levels and promotes amyloidogenesis

T O'Connor, KR Sadleir, E Maus, RA Velliquette… - Neuron, 2008 - cell.com
Summary β-site APP cleaving enzyme-1 (BACE1), the rate-limiting enzyme for β-amyloid
(Aβ) production, is elevated in Alzheimer's disease (AD). Here, we show that energy …

Alzheimer disease models and human neuropathology: similarities and differences

C Duyckaerts, MC Potier, B Delatour - Acta neuropathologica, 2008 - Springer
Animal models aim to replicate the symptoms, the lesions or the cause (s) of Alzheimer
disease. Numerous mouse transgenic lines have now succeeded in partially reproducing its …

Aβ is targeted to the vasculature in a mouse model of hereditary cerebral hemorrhage with amyloidosis

MC Herzig, DT Winkler, P Burgermeister, M Pfeifer… - Nature …, 2004 - nature.com
The E693Q mutation in the amyloid beta precursor protein (APP) leads to cerebral amyloid
angiopathy (CAA), with recurrent cerebral hemorrhagic strokes and dementia. In contrast to …

β-Site amyloid precursor protein cleaving enzyme 1 levels become elevated in neurons around amyloid plaques: implications for Alzheimer's disease pathogenesis

J Zhao, Y Fu, M Yasvoina, P Shao, B Hitt… - Journal of …, 2007 - Soc Neuroscience
β-Site amyloid precursor protein cleaving enzyme 1 (BACE1)(β-secretase) initiates
generation of β-amyloid (Aβ), which plays an early role in Alzheimer's disease (AD). BACE1 …

Demonstration by FRET of BACE interaction with the amyloid precursor protein at the cell surface and in early endosomes

A Kinoshita, H Fukumoto, T Shah… - Journal of cell …, 2003 - journals.biologists.com
Amyloid-β peptide, which accumulates in senile plaques in Alzheimer's disease, is derived
from the amyloid precursor protein (APP) by proteolytic processing. β-secretase (Asp2) …