Results 21 to 30 of about 38,121 (213)

Pen2 and Presenilin-1 Modulate the Dynamic Equilibrium of Presenilin-1 and Presenilin-2 γ-Secretase Complexes [PDF]

open access: yesJournal of Biological Chemistry, 2009
gamma-Secretase is known to play a pivotal role in the pathogenesis of Alzheimer disease through production of amyloidogenic Abeta42 peptides. Early onset familial Alzheimer disease mutations in presenilin (PS), the catalytic core of gamma-secretase, invariably increase the Abeta42:Abeta40 ratio.
Lisa, Placanica   +7 more
openaire   +2 more sources

Presenilin-1 and Presenilin-2 Exhibit Distinct yet Overlapping γ-Secretase Activities [PDF]

open access: yesJournal of Biological Chemistry, 2003
Presenilin-1 (PS1) and presenilin 2 (PS2) are proposed to be transmembrane aspartyl proteases that cleave amyloid precursor protein and Notch. PS1- and PS2-mediated activities were individually characterized using blastocyst-derived (BD) cells and membranes from PS1+/--PS2-/- and PS1-/-PS2+/+ mice, respectively.
Ming-Tain, Lai   +13 more
openaire   +2 more sources

Gene mutations associated with early onset familial Alzheimer’s disease in China: An overview and current status

open access: yesMolecular Genetics & Genomic Medicine, 2020
Background Mutations of three causative genes, namely presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP), have been identified as the major causes of early‐onset familial Alzheimer's disease (EOFAD).
Qi Qin   +5 more
doaj   +1 more source

A role for presenilin in post-stress regulation: effects of presenilin mutations on Ca2+ currents in Drosophila [PDF]

open access: yes, 2007
It has been shown that presenilin is involved in maintaining Ca(2+) homeostasis in neurons, including regulating (ER) Ca(2+) storage. From studies of primary cultures and cell lines, however, its role in stress-induced responses is still controversial ...
Fortini, M. E.   +7 more
core   +1 more source

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

open access: yesNeurobiology 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

Inactivation of presenilins causes pre-synaptic impairment prior to post-synaptic dysfunction [PDF]

open access: yes, 2010
Synaptic dysfunction is widely thought to be a pathogenic precursor to neurodegeneration in Alzheimer’s disease (AD), and the extent of synaptic loss provides the best correlate for the severity of dementia in AD patients.
Ho, Angela   +5 more
core   +1 more source

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

open access: yesPLoS 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   +12 more
doaj   +1 more source

Village guards as “in between” in the Turkish-Kurdish conflict: Re-examining identity and position in intergroup conflict [PDF]

open access: yes, 2019
The current paper utilizes new approaches in intergroup conflict studies to examine the village guard system and its role in the Turkish-Kurdish conflict in Turkey.
Acar, Yasemin Gülsüm
core   +3 more sources

Signal peptide peptidases and gamma-secretase: Cousins of the same protease family? [PDF]

open access: yes, 2007
Signal peptide peptidase (SPIP) is an unusual aspartyl protease, which mediates clearance of signal peptides by proteolysis within the endoplasmic reticulum (ER).
Christian Haass   +15 more
core   +2 more sources

Cloning of the Presenilin 2 cDNA and Its Distribution in Brain of the Primate,Microcebus murinus: Coexpression with βAPP and Tau Proteins

open access: yesNeurobiology of Disease, 1998
A 1340-bp cDNA fragment encoding the lemurian presenilin 2 protein (PS2) was isolated from aMicrocebus murinusbrain cDNA library by PCR using oligonucleotide primers based on the nucleotide sequence of the human gene.
Alphonse Calenda   +7 more
doaj   +1 more source

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