Results 71 to 80 of about 38,121 (213)

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

A case of probable non-familial early onset Alzheimer dementia in a Hispanic male [PDF]

Journal of Community Hospital Internal Medicine Perspectives, 2012
Background: Early onset Alzheimer's type dementia (EOAD) is usually familial and associated with mutations in the Presenilin-1 (PSEN1), Presenilin-2 (PSEN2) or amyloid precursor protein (APP) genes.
Corey Ephrussi, Richard Alweis
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

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

Mutations in presenilin 2 and its implications in Alzheimer’s disease and other dementia-associated disorders

Clinical Interventions in Aging, 2015
Yan Cai,1 Seong Soo A An,1 SangYun Kim2 1Department of Bionano Technology, Gachon Medical Research Institute, Gachon University, 2Department of Neurology, Seoul National University College of Medicine, Seoul National University Bundang Hospital ...
Cai Y, An SSA, Kim SY
doaj  

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  

Stabilizing the Retromer Complex in a Human Stem Cell Model of Alzheimer's Disease Reduces TAU Phosphorylation Independently of Amyloid Precursor Protein. [PDF]

, 2018
Developing effective therapeutics for complex diseases such as late-onset, sporadic Alzheimer's disease (SAD) is difficult due to genetic and environmental heterogeneity in the human population and the limitations of existing animal models. Here, we used
Fong, Lauren K, Frankowski, Harald, Goldstein, Lawrence SB, Petsko, Gregory A, Small, Scott A, Young, Jessica E   +5 more
core   +3 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

Parkin acts as a transcription factor modulating presenilin-1 and presenilin-2 promoter transactivations [PDF]

Molecular Neurodegeneration, 2013
Background Parkin is associated to autosomal recessive early-onset Parkinson’s disease. Parkin acts as an E3-ubiquitin ligase involved in the proteasome-mediated degradation of various substrates. It has been suggested that pathogenic mutations of parkin, abolishing its ubiquitin-ligase activity, could explain the accumulation of proteins and lead to ...
Duplan, Eric, Sévalle, Jean, Viotti, Julien, Goiran, Thomas, Bauer, Charlotte, Renbaum, Paul, Levy-Lahad, Ephrat, Gautier, Clément, Corti, Olga, Leroudier, Nathalie, Checler, Frédéric, da Costa, Cristine   +11 more
openaire   +2 more sources

Identification of transcription factor binding sites in promoter databases [PDF]

, 2011
Transcription factors (TFs) are the proteins which regulates the expression of their target genes either in a positive or negative manner. TFs realize this task by binding to a specific DNA sequence contained in promoter regions, via their DNA binding ...
Dağ, Uğur, Durası, İlknur Melis, Erdoğan, Burcu, Güngör, Burcu Bakır, Kurnaz, Işıl Aksan, Sezerman, Uğur   +5 more
core   +1 more source