Results 61 to 70 of about 26,399 (217)
Kyung Won Park,1,* Seong Soo An,1,2,* Eva Bagyinszky,2 SangYun Kim3 1Department of Neurology, Busan Metropolitan Dementia Center, Dong-A University College of Medicine, Busan, 2Department of BioNano Technology and Gachon BioNano Research Institute ...
Park KW, An SS, Bagyinszky E, Kim SY
doaj
A case of probable non-familial early onset Alzheimer dementia in a Hispanic male [PDF]
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
A reporter for amyloid precursor protein γ-secretase activity in Drosophila [PDF]
A key event in the pathogenesis of Alzheimer's disease (AD) is the deposition of senile plaques consisting largely of a peptide known as β-amyloid (Aβ) that is derived from the amyloid precursor protein (APP).
Fernandes, Jolene +4 more
core +1 more source
Variable selection for the multicategory SVM via adaptive sup-norm regularization [PDF]
The Support Vector Machine (SVM) is a popular classification paradigm in machine learning and has achieved great success in real applications. However, the standard SVM can not select variables automatically and therefore its solution typically utilizes ...
Liu, Yufeng +3 more
core +3 more sources
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
Alzheimer’s disease phenotypes and genotypes associated with mutations in presenilin 2 [PDF]
Mutations in presenilin 2 are rare causes of early onset familial Alzheimer's disease. Eighteen presenilin 2 mutations have been reported, although not all have been confirmed pathogenic. Much remains to be learned about the range of phenotypes associated with these mutations.
Suman, Jayadev +6 more
openaire +2 more sources
Alzheimer's disease-like alterations in peripheral cells from presenilin-1 transgenic mice [PDF]
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 ...
Czech, Christian +6 more
core
Different types of γ-secretes complexes and their effect on substrate processing [PDF]
The γ-secretase complex is a transmembrane aspartyl protease that generates the Alzheimer disease (AD) related amyloid β-peptide (Aβ) from the amyloid precursor protein (APP). The γ- secretase complex cleaves APP at two different sites (γ- and ε-sites)
Pamrén, Annelie
core +1 more source
Proteostasis of organelles in aging and disease
Cells rely on regulated proteostasis mechanisms to keep their internal compartments functioning properly. When these mechanisms fail, damaged proteins accumulate, disrupting organelles, such as the nucleus, mitochondria, endoplasmic reticulum, Golgi, and lysosomes, as well as membraneless organelles, such as stress granules, processing bodies, the ...
Yara Nabawi +5 more
wiley +1 more source
Presenilin 2 Interacts with Sorcin, a Modulator of the Ryanodine Receptor [PDF]
Perturbed Ca(2+) homeostasis is a common molecular consequence of familial Alzheimer's disease-linked presenilin mutations. We report here the molecular interaction of the large hydrophilic loop region of presenilin 2 (PS2) with sorcin, a penta-EF-hand Ca(2+)-binding protein that serves as a modulator of the ryanodine receptor intracellular Ca(2 ...
E, Pack-Chung +7 more
openaire +2 more sources

