Results 91 to 100 of about 26,399 (217)

Exogenous Aβ1–42 monomers rescue memory deficits in presenilin-1 and presenilin-2 conditional double knockout mice

Brain Research Bulletin
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, Bo Wang, Zhidong Chen, Fan Ding, Jiayue Wang, Chaoyang Ding, Xiaohua Cao   +6 more
doaj   +1 more source

Pharmacological And Genetic Reversal Of Age-Dependent Cognitive Deficits Attributable To Decreased Presenilin Function [PDF]

, 2010
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., Chiorean, S., Choi, C. H., Choi, R. J., Ferreiro, D., Ferrick, N. J., Fortini, M. E., Hinchey, P., Jongens, T. A., Koenigsberg, E., Kollaros, M., Liebelt, D. A., McBride, S. M.J., McDonald, T. V., Nguyen, H. T., Rudominer, R. L., Schoenfeld, B. P., Siwicki, Kathleen King, Sumida, A., Terlizzi, A. M.   +19 more
core   +2 more sources

Mitochondrial Homeostasis in Pancreatic β Cell Function: Mechanisms and Therapeutic Targets for Diabetes

Journal of Diabetes, Volume 18, Issue 5, May 2026.
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, Bingqian Zhang, Yuxin Zhang, Yang Yang, Yuting Lu, Jingya Li   +5 more
wiley   +1 more source

The Zebrafish equivalent of Alzheimer's disease-associated PRESENILIN Isoform PS2V regulates inflammatory and other responses to hypoxic stress [PDF]

, 2016
Dominant mutations in the PRESENILIN genes PSEN1 and PSEN2 cause familial Alzheimer's disease (fAD) that usually shows onset before 65 years of age. In contrast, genetic variation at the PSEN1 and PSEN2 loci does not appear to contribute to risk for the ...
Ebrahimie, E., Lardelli, M., Moussavi Nik, S., Newman, M., Van Der Hoek, M.   +4 more
core   +1 more source

SORBS2: A Molecular Nexus in Multisystem Diseases Through Scaffold‐Mediated Regulation

Journal of Cellular and Molecular Medicine, Volume 30, Issue 9, May 2026.
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

Functional γ-secretase complex assembly in Golgi/trans-Golgi network: interactions among presenilin, nicastrin, Aph1, Pen-2, and γ-secretase substrates

Neurobiology of Disease, 2003
γ-Secretase is a proteolytic complex whose substrates include Notch, β-amyloid precursor protein (APP), and several other type I transmembrane proteins. Presenilin (PS) and nicastrin are known components of this high-molecular-weight complex, and recent ...
Stephanie Baulac, Matthew J LaVoie, W.Taylor Kimberly, Jennifer Strahle, Michael S Wolfe, Dennis J Selkoe, Weiming Xia   +6 more
doaj   +1 more source

AMPK in the central nervous system: physiological roles and pathological implications [PDF]

, 2016
5′ AMP-activated protein kinase (AMPK) is considered the master metabolic regulator in all eukaryotes, as it maintains cellular energy homeostasis in a variety of tissues, including the brain.
Fioramonti, Marco, Fracassi, Anna, Marangoni, Martina, Rosso, Pamela, Segatto, Marco, Siteni, Silvia, Taglietti, Valentina   +6 more
core   +1 more source

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, Volume 16, Issue 4, Page 803-813, April 2026.
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, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Changes in the expression of the Alzheimer's disease-associated presenilin gene in drosophila heart leads to cardiac dysfunction [PDF]

, 2011
Mutations in the presenilin genes cause the majority of early-onset familial Alzheimer’s disease. Recently, presenilin mutations have been identified in patients with dilated cardiomyopathy (DCM), a common cause of heart failure and the most prevalent ...
Cantiello, H. F., Fujimoto, James G., Lee, Hsiang-Chieh, Li, A., McKee, M. L., Moore, J., Raygor, K., Romano, D. M., Schoenfeld, D. A., Serra, M. J., Tanzi, R. E., Tsai, Tsung-Han, Zhang, P., Zhou, C.   +13 more
core   +2 more sources

Generation of human induced pluripotent stem cell line from a familial Alzheimer’s disease patient carrying missense mutations in PSEN1 and MAPT genes

Stem Cell Research
Alzheimer’s disease (AD), pathologically characterized by misfolding and accumulation of amyloid beta (Aβ) and hyperphosphorylated tau, is the leading cause of neurodegenerative dementia, accounting for 60–80 % of cases. The familial form of AD is caused
Ashaq H. Najar, Sofia E. Sepulveda, Camila Gherardelli, Fatemeh Elahian, Amber Fontenot-Roberts, Aleksandar Bajic, David H. Hunter, Claudio Soto, Paul E. Schulz, Abhisek Mukherjee   +9 more
doaj   +1 more source