Results 41 to 50 of about 38,121 (213)

Presenilins Upregulate Functional K+Channel Currents in Mammalian Cells

Neurobiology of Disease, 1998
Mutations in presenilin 1 (PS-1) and presenilin 2 (PS-2) have been linked to early onset, autosomal dominant Alzheimer's disease. Neither the normal function(s) of the presenilins nor their role(s) in mediating the devastating neurological and ...
Sacha A. Malin, W.-X.Athena Guo, Gita Jafari, Alison M. Goate, Jeanne M. Nerbonne   +4 more
doaj   +1 more source

Calcium in the initiation, progression and as an effector of Alzheimer's disease pathology. [PDF]

, 2009
The cause(s) of sporadic Alzheimer's disease (sAD) are complex and currently poorly understood. They likely result from a combination of genetic, environmental, proteomic and lipidomic factors that crucially occur only in the aged brain.
Green, Kim N
core   +1 more source

Mutations in genes involved in nonsense mediated decay ameliorate the phenotype of sel-12 mutants with amber stop mutations in Caenorhabditis elegans

BMC Genetics, 2009
Background Presenilin proteins are part of a complex of proteins that can cleave many type I transmembrane proteins, including Notch Receptors and the Amyloid Precursor Protein, in the middle of the transmembrane domain.
Aubert Sylvie, Gontijo Alisson M, Roelens Ingele, Lakowski Bernard   +3 more
doaj   +1 more source

The Nicastrin ectodomain adopts a highly thermostable structure [PDF]

, 2011
Nicastrin is a type I transmembrane glycoprotein, which is part of the high molecular weight gamma-secretase complex. gamma-Secretase is one of the key players associated with the generation of Alzheimer's disease pathology, since it liberates the ...
Beyer, Klaus, Fluhrer, Regina, Grammer, Gudula, Haass, Christian, Kamp, Frits, Nuscher, Brigitte, Steiner, Harald   +6 more
core   +2 more sources

Comparison of Presenilin 1 and Presenilin 2 γ-Secretase Activities Using a Yeast Reconstitution System [PDF]

Journal of Biological Chemistry, 2011
γ-Secretase is composed of at least four proteins, presenilin (PS), nicastrin (NCT), Aph1, and Pen2. PS is the catalytic subunit of the γ-secretase complex, having aspartic protease activity. PS has two homologs, namely, PS1 and PS2. To compare the activity of these complexes containing different PSs, we reconstituted them in yeast, which lacks γ ...
Yoji, Yonemura, Eugene, Futai, Sosuke, Yagishita, Satoshi, Suo, Taisuke, Tomita, Takeshi, Iwatsubo, Shoichi, Ishiura   +6 more
openaire   +2 more sources

Establishment of induced pluripotent stem cell line (ZZUi010-A) from an Alzheimer's disease patient carrying an APP gene mutation

Stem Cell Research, 2017
Alzheimer's disease (AD) is one of the most common neurodegenerative disorders. Previous studies have identified mutations in several genes, such as amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2), in patients with early ...
Zhilei Wang, Pei Zhang, Yanlin Wang, Changhe Shi, Na Jing, Huifang Sun, Jing Yang, Yutao Liu, Xuejun Wen, Jin Zhang, Shoutao Zhang, Yuming Xu   +11 more
doaj   +1 more source

Cholestenoic acid, an endogenous cholesterol metabolite, is a potent γ-secretase modulator. [PDF]

, 2015
BackgroundAmyloid-β (Aβ) 42 has been implicated as the initiating molecule in the pathogenesis of Alzheimer's disease (AD); thus, therapeutic strategies that target Aβ42 are of great interest.
Akula, Rajender, Ba, Saritha, Ceballos-Diaz, Carolina, Felsenstein, Kevin M, Golde, Todd E, Hochhaus, Günther, Jung, Joo In, Koo, Edward H, Ladd, Thomas B, Park, Hyo-Jin, Price, Ashleigh R, Ran, Yong, Shapiro, Gideon, Smithson, Lisa A, Tang, Yufei   +14 more
core   +3 more sources

miRNA-based rapid differentiation of purified neurons from hPSCs advancestowards quick screening for neuronal disease phenotypes in vitro [PDF]

, 2020
Obtaining differentiated cells with high physiological functions by an efficient, but simple and rapid differentiation method is crucial for modeling neuronal diseases in vitro using human pluripotent stem cells (hPSCs).
Aoyama, Takeshi, Ishikawa, Mitsuru, Miyoshi, Hiroyuki, Morota, Saori, Nakamura, Mari, Okano, Hideyuki, Shibata, Shoichiro, Sone, Takefumi, Uchino, Hiroyuki, Watanabe, Hirotaka, Yoo, Andrew S   +10 more
core   +2 more sources

Identification of caspases that cleave presenilin‐1 and presenilin‐2 [PDF]

FEBS Letters, 1999
Mutations in the presenilin (PS) genes PS1 and PS2 are involved in Alzheimer's disease (AD). Recently, apoptosis‐associated cleavage of PS proteins was identified. Here we demonstrate that PS1 as well as PS2 are substrates for different members of the caspase protein family. Remarkably, the caspases acting on PS1 could be subdivided in two groups.
van de Craen, M., de Jonghe, Chris, van den Brande, I., Declercq, W., van Gassen, Geert, van Crieckinge, W., Vanderhoeven, I., Fiers, W., Van Broeckhoven, Christine, Hendriks, Lydia, Vandenabeele, P.   +10 more
openaire   +3 more sources

A pedigree study on early ⁃ onset Alzheimer's disease associated with PSEN2 V214L mutation

Chinese Journal of Contemporary Neurology and Neurosurgery, 2023
Objective To report clinical phenotype and gene mutation characteristics of one case of early⁃onset Alzheimer's disease (EOAD) associated with PSEN2 V214L mutation and conduct a pedigree analysis.
Hong⁃qian CAI, An⁃ni ZHANG, Zi⁃qian XU, Hui⁃lan GONG, Hong⁃mei ZENG, Dian HE   +5 more
doaj   +1 more source