Acetylcholinesterase Modulates Presenilin-1 Levels and γ-Secretase Activity [PDF]
The cholinergic enzyme acetylcholinesterase (AChE) and the catalytic component of the γ-secretase complex, presenilin-1 (PS1), are known to interact. In this study, we investigate the consequences of AChE-PS1 interactions, particularly the influence of AChE in PS1 levels and γ-secretase activity.
Campanari ML +5 more
openaire +7 more sources
Alphafuser: a parsimonious approach to predicting higher‐order protein complexes
Alphafuser is a structure‐prediction pipeline that integrates experimental interaction data with AlphaFold‐based modeling to systematically assemble multiprotein complexes in a computationally efficient manner. By implementing an ipTM‐based pruning algorithm and validating against known structures and experimental assays, Alphafuser enables the ...
Audrey Guillotin +5 more
wiley +1 more source
Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1 [PDF]
Background: In rare cases, patients with Alzheimer disease (AD) present at an early age and with a family history suggestive of an autosomal dominant mode of inheritance.
Benjamin, Beate +3 more
core +1 more source
Emerging evidence challenges the direct causal relationship between amyloid-β (Aβ) deposition and cognitive decline in Alzheimer's disease (AD), as exemplified in presenilin-1 and presenilin-2 conditional double knockout (cDKO) mice which exhibit no ...
Jinnan Chen +6 more
doaj +1 more source
This review highlights mitochondrial dysfunction as a central driver of pancreatic β cell failure in diabetes, caused by disrupted mitochondrial quality control (MQC), oxidative stress, and impaired organelle communication. Emerging therapies, such as DRAK2 inhibitors and metabolic reprogramming agents, show promise in restoring β cell function by ...
Ruihan Li +5 more
wiley +1 more source
Amyloid imaging in aging and dementia: testing the amyloid hypothesis in vivo. [PDF]
Amyloid imaging represents a major advance in neuroscience, enabling the detection and quantification of pathologic protein aggregations in the brain. In this review we survey current amyloid imaging techniques, focusing on positron emission tomography ...
Jagust, WJ, Rabinovici, GD
core +2 more sources
SORBS2: A Molecular Nexus in Multisystem Diseases Through Scaffold‐Mediated Regulation
ABSTRACT Sorbin and SH3 Domain Containing 2 (SORBS2), a multifunctional scaffold protein harbouring Sorbin homology (SoHo) and Src homology 3 (SH3) domains, serves as a molecular hub in human diseases by integrating cytoskeletal remodelling, signal transduction and RNA metabolic regulation. This study systematically analyses SORBS2's molecular features,
Qiwei Jia, Yong Zhang
wiley +1 more source
Characterization of the γ-secretase subunit interactome in Arabidopsis thaliana [PDF]
Gamma secretase is a multi-subunit complex with aspartic intramembrane protease activity that is involved in the pathogenesis of Alzheimer's disease in humans. In Arabidopsis thaliana, -secretase subunits are localized to endomembrane system compartments
De Jaeger, Geert +7 more
core +1 more source
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
Pharmacological And Genetic Reversal Of Age-Dependent Cognitive Deficits Attributable To Decreased Presenilin Function [PDF]
Alzheimer\u27s disease (AD) is the leading cause of cognitive loss and neurodegeneration in the developed world. Although its genetic and environmental causes are not generally known, familial forms of the disease (FAD) are attributable to mutations in a
Bell, A. J. +19 more
core +2 more sources

