Alzheimer's disease: an updated overview of its genetics

J Andrade-Guerrero, A Santiago-Balmaseda… - International journal of …, 2023 - mdpi.com
Alzheimer's disease (AD) is the most common neurodegenerative disease in the world. It is
classified as familial and sporadic. The dominant familial or autosomal presentation …

Cathepsin D—many functions of one aspartic protease

P Benes, V Vetvicka, M Fusek - Critical reviews in oncology/hematology, 2008 - Elsevier
For years, it has been held that cathepsin D (CD) is involved in rather non-specific protein
degradation in a strongly acidic milieu of lysosomes. Studies with CD knock-out mice …

Alpha‐2‐macroglobulin, a hypochlorite‐regulated chaperone and immune system modulator

JH Cater, MR Wilson, AR Wyatt - Oxidative medicine and …, 2019 - Wiley Online Library
Alpha‐macroglobulins are ancient proteins that include monomeric, dimeric, and tetrameric
family members. In humans, and many other mammals, the predominant alpha …

The role of cathepsin D in the pathogenesis of human neurodegenerative disorders

C Vidoni, C Follo, M Savino… - Medicinal research …, 2016 - Wiley Online Library
In familial neurodegenerative disorders, protein aggregates form continuously because of
genetic mutations that drive the synthesis of truncated or unfolded proteins. The oxidative …

[HTML][HTML] Preserving lysosomal function in the aging brain: insights from neurodegeneration

W Peng, G Minakaki, M Nguyen, D Krainc - Neurotherapeutics, 2019 - Elsevier
Lysosomes are acidic, membrane-bound organelles that serve as the primary catabolic
compartment of the cell. They are crucial to a variety of cellular processes from nutrient …

Human pregnancy zone protein stabilizes misfolded proteins including preeclampsia-and Alzheimer's-associated amyloid beta peptide

JH Cater, JR Kumita… - Proceedings of the …, 2019 - National Acad Sciences
Protein misfolding underlies the pathology of a large number of human disorders, many of
which are age-related. An exception to this is preeclampsia, a leading cause of pregnancy …

Epistasis in sporadic Alzheimer's disease

O Combarros, M Cortina-Borja, AD Smith… - Neurobiology of …, 2009 - Elsevier
The traditional approach in case-control association studies, to evaluate candidate genes
individually, either single markers or haplotypes, has had limited success. The multifactorial …

Cathepsin D variants associated with neurodegenerative diseases show dysregulated functionality and modified α-synuclein degradation properties

J Bunk, S Prieto Huarcaya, A Drobny… - Frontiers in cell and …, 2021 - frontiersin.org
Cathepsin D (CTSD) is a lysosomal protease important for the degradation of various
substrates, including disease-associated proteins like α-synuclein (a-syn), amyloid …

Neuronal gene expression in non-demented individuals with intermediate Alzheimer's Disease neuropathology

WS Liang, T Dunckley, TG Beach, A Grover… - Neurobiology of …, 2010 - Elsevier
While the clinical and neuropathological characterization of Alzheimer's Disease (AD) is well
defined, our understanding of the progression of pathologic mechanisms in AD remains …

The bioinformatic analysis of the dysregulated genes and microRNAs in entorhinal cortex, hippocampus, and blood for Alzheimer's disease

X Pang, Y Zhao, J Wang, Q Zhou, L Xu… - BioMed research …, 2017 - Wiley Online Library
Aim. The incidence of Alzheimer's disease (AD) has been increasing in recent years, but
there exists no cure and the pathological mechanisms are not fully understood. This study …