Results 31 to 40 of about 24,368 (229)

Protein Predictive Modeling and Simulation of Mutations of Presenilin-1 Familial Alzheimer’s Disease on the Orthosteric Site

Frontiers in Molecular Biosciences, 2021
Alzheimer’s disease pathology is characterized by β-amyloid plaques and neurofibrillary tangles. Amyloid precursor protein is processed by β and γ secretase, resulting in the production of β-amyloid peptides with a length ranging from 38 to 43 amino ...
Alejandro Soto-Ospina, Alejandro Soto-Ospina, Pedronel Araque Marín, Gabriel Bedoya, Diego Sepulveda-Falla, Diego Sepulveda-Falla, Andrés Villegas Lanau, Andrés Villegas Lanau   +7 more
doaj   +1 more source

Presenilin-1-Dependent Transcriptome Changes [PDF]

The Journal of Neuroscience, 2005
Familial forms of Alzheimer's disease (FADs) are caused by the expression of mutant presenilin 1 (PS1) or presenilin 2. Using DNA microarrays, we explored the brain transcription profiles of mice with conditional knock-out ofPS1(cKOPS1) in the forebrain.
Károly, Mirnics, Zeljka, Korade, Dominique, Arion, Orly, Lazarov, Travis, Unger, Melissa, Macioce, Michael, Sabatini, David, Terrano, Katherine C, Douglass, Nina F, Schor, Sangram S, Sisodia   +10 more
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Presenilin 1 Glu318Gly Polymorphism [PDF]

Archives of Neurology, 2005
The significance of the presenilin 1 (PSEN1) Glu318Gly polymorphism has been described as either a causal mutation with reduced penetrance or a benign polymorphism. When this polymorphism is found in a symptomatic person with a family history of dementia, counseling on recurrence risk becomes very problematic.To demonstrate that the PSEN1 Glu318Gly ...
Jill S, Goldman, Julene K, Johnson, Karen, McElligott, Oksana, Suchowersky, Bruce L, Miller, Vivianna M, Van Deerlin   +5 more
openaire   +2 more sources

A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene. [PDF]

PLoS ONE, 2013
Posterior cortical atrophy is a dementia syndrome with symptoms of cortical visual dysfunction, associated with amyloid plaques and neurofibrillary tangles predominantly affecting visual association cortex. Most patients diagnosed with posterior cortical
Emilia J Sitek, Ewa Narożańska, Beata Pepłońska, Sławomir Filipek, Anna Barczak, Maria Styczyńska, Krzysztof Mlynarczyk, Bogna Brockhuis, Erik Portelius, Dorota Religa, Maria Barcikowska, Jarosław Sławek, Cezary Żekanowski   +12 more
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Presenilin-1 mutations and Alzheimer’s disease [PDF]

Proceedings of the National Academy of Sciences, 2017
Mutations in the PSEN1 gene, encoding presenilin-1 (PS1), are the most common cause of familial Alzheimer’s disease (FAD). PS1 functions as the catalytic subunit of γ-secretase, an intramembranous protease that cleaves a variety of type 1 transmembrane proteins, notably including the amyloid precursor protein (APP) and Notch.
Raymond J, Kelleher, Jie, Shen
openaire   +2 more sources

Presenilin 1 is essential for cardiac morphogenesis [PDF]

Developmental Dynamics, 2004
AbstractPresenilin 1 (PS1) is the gene responsible for the development of early‐onset familial Alzheimer's disease. PS1‐deficient mice have been reported to show defects in neurogenesis, somitogenesis and angiogenesis. Here, we report cardiac anomaly in PS1‐deficient mice: the mutant hearts exhibited ventricular septal defect, double outlet right ...
Mitsunari, Nakajima, Eiko, Moriizumi, Haruhiko, Koseki, Takuji, Shirasawa   +3 more
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Structural biology of presenilin 1 complexes [PDF]

Molecular Neurodegeneration, 2014
The presenilin genes were first identified as the site of missense mutations causing early onset autosomal dominant familial Alzheimer's disease. Subsequent work has shown that the presenilin proteins are the catalytic subunits of a hetero-tetrameric complex containing APH1, nicastrin and PEN-2.
Li, Yi, Bohm, Christopher, Dodd, Roger, Chen, Fusheng, Qamar, Seema, Schmitt-Ulms, Gerold, Fraser, Paul E, St George-Hyslop, Peter H   +7 more
openaire   +3 more sources

Alzheimer's Disease-like Alterations in Peripheral Cells from Presenilin-1 Transgenic Mice

Neurobiology of Disease, 2001
Many cases of early-onset inherited Alzheimer's disease (AD) are caused by mutations in the presenilin-1 (PS1) gene. Expression of PS1 mutations in cell culture systems and in primary neurons from transgenic mice increases their vulnerability to cell ...
Anne Eckert, Katharina Schindowski, Silke Leutner, Christian Luckhaus, Nathalie Touchet, Christian Czech, Walter E. Müller   +6 more
doaj   +1 more source

Presenilin/γ-secretase and inflammation

Frontiers in Aging Neuroscience, 2010
Presenilins (PS) are the catalytic components of γ-secretase, an aspartyl protease that regulates through proteolytic processing the function of multiple signaling proteins.
Carlos A Saura
doaj   +1 more source

Pathogenic PSEN1 Thr119Ile Mutation in Two Korean Patients with Early-Onset Alzheimer’s Disease

Diagnostics, 2020
We report a probable pathogenic Thr119Ile mutation in presenilin-1 (PSEN1) in two unrelated Korean patients, diagnosed with early onset Alzheimer’s disease (EOAD). The first patient presented with memory decline when she was 64 years old.
Eva Bagyinszky, Hyon Lee, Jung Min Pyun, Jeewon Suh, Min Ju Kang, Van Giau Vo, Seong Soo A. An, Kee Hyung Park, SangYun Kim   +8 more
doaj   +1 more source