Results 71 to 80 of about 40,397 (225)

Novel presenilin 1 and 2 double knock-out cell line for in vitro validation of PSEN1 and PSEN2 mutations

Neurobiology of Disease, 2020
Mutations in APP (amyloid precursor protein), PSEN1 (presenilin 1) or PSEN2 (presenilin 2) are the main cause of early-onset familial forms of Alzheimer's disease (autosomal dominant AD or ADAD).
Anna A. Pimenova, Alison M. Goate
doaj   +1 more source

Correlating familial Alzheimer’s disease gene mutations with clinical phenotype [PDF]

, 2010
Alzheimer’s disease (AD) causes devastating cognitive impairment and an intense research effort is currently devoted to developing improved treatments for it.
Rossor, M.N., Ryan, N.S.
core   +1 more source

Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer disease [PDF]

, 2017
Alzheimer disease (AD), Frontotemporal lobar degeneration (FTD), Amyotrophic lateral sclerosis (ALS) and Parkinson disease (PD) have a certain degree of clinical, pathological and molecular overlap.
Alexandra Medvedeva, Alison Goate, Ben Saef, Carlos Cruchaga, Joanne Norton, John C. Morris, John P. Budde, Jong Hun Kim, Jorge Del-Aguila, Kathleen Black, Laura Ibañez, Maria Victoria Fernández, null null, null null, Oscar Harari, Rachel Chasse, Umber Dube, Yuetiva Deming   +17 more
core   +4 more sources

In Silico Structure‐Guided Design of Peptide Candidates Targeting γ‐Secretase Subunit Assembly

Proteins: Structure, Function, and Bioinformatics, EarlyView.
ABSTRACT The γ‐secretase complex is a membrane‐embedded protease essential for intramembrane cleavage of substrates such as Notch receptors and the amyloid precursor protein (APP), processes central to cancer progression and Alzheimer's disease (AD) pathology.
Selcen Arı Yuka, Kübra Telli, Alper Yılmaz   +2 more
wiley   +1 more source

Huperzine A Regulates the Physiological Homeostasis of Amyloid Precursor Protein Proteolysis and Tau Protein Conformation—A Computational and Experimental Investigation

Biology
The beneficial actions of the natural compound Huperzine A (Hup A) against age-associated learning and memory deficits promote this compound as a nootropic agent.
Suwakon Wongjaikam, Chutikorn Nopparat, Parichart Boontem, Jiraporn Panmanee, Nopporn Thasana, Mayuri Shukla, Piyarat Govitrapong   +6 more
doaj   +1 more source

Reduced antioxidant enzyme activity in brains of mice transgenic for human presenilin-1 with single or multiple mutations [PDF]

, 2006
Alzheimer's disease-related mutations in the presenilin-1 gene (PS1) are leading to an elevated production of neurotoxic beta-amyloid 1-42 and may additionally enhance oxidative stress.
Czech, Christian, Eckert, Anne, Leutner, Silke, Müller, Walter E., Schindowski, Katharina, Touchet, Nathalie   +5 more
core  

Functions of p120ctn in development and disease [PDF]

, 2012
p120 catenin (p120ctn), a component of the cadherin-catenin complex, was the first member to be identified in a most interesting subfamily of the Armadillo family. Several p120ctn isoforms are generated by alternative splicing.
Pieters, Tim, van Hengel, Jolanda, Van Roy, Frans   +2 more
core   +1 more source

Increased expression of inflammasome signaling genes and proteins in selective brain regions in the intermediate stage of Alzheimer's disease

Brain Pathology, EarlyView.
Neuritic plaques increase in the intermediate stage of Alzheimer's neuropathological change. The intermediate stage of Alzheimer's disease was investigated by transcriptomics and immunohistochemistry. This revealed that inflammasome sensors NLRP1, NLRP3, and AIM2 oligomerize with ASC speck to form the inflammasome complex and initiate the downstream ...
Juan Pablo de Rivero Vaccari, David A. Davis, Andrew P. Sawaya, Susanna P. Garamszegi, Xiaoyan Sun, Ayled Barreda, Helen M. Bramlett, Sakir Humayun Gultekin, W. Dalton Dietrich, Robert W. Keane, Regina T. Vontell   +10 more
wiley   +1 more source

Metabolism of Presenilin 1: Influence of Presenilin 1 on Amyloid Precursor Protein Processing

Neurobiology of Aging, 1998
To create model systems to examine presenilin 1 (PS1) metabolism in vivo, we generated transgenic mice expressing wild-type and A246E mutant human PS1. Our data indicate that both wild-type and mutant PS1 is endoproteolytically cleaved into 27 kDa N- and 17 kDa C-terminal fragments, which are the principal PS1 species found in normal mammalian brain ...
openaire   +2 more sources

Targeting the Notch receptor dimerization domain to inhibit Notch signalling—A new avenue of therapeutics

The FEBS Journal, EarlyView.
Notch signalling is an evolutionarily conserved signalling pathway that directs cell growth and differentiation across multiple tissue types, and its regulation must be controlled across the lifespan. Aberrant Notch signalling due to genetic mutations that occur within the negative regulatory region of the Notch 1 gene is linked to the development of ...
Gerard F Hoyne
wiley   +1 more source