presenilin 1
Familial Alzheimer’s disease–associated presenilin 1 alters cerebellar activity and calcium homeostasis
... encoding presenilin-1 (PS1) are found in approximately 80% of cases of FAD, with some of these patients presenting cerebellar damage with amyloid plaques and ataxia with unclear ...
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CSF Presenilin-1 complexes are increased in Alzheimer’s disease
... enzyme 1 (BACE1; ...subunits: presenilin-1 (or presenilin-2), nicastrin, APH-1 (anterior pharynx-defective 1), and PEN-2 (presenilin enhancer 2) ...[5]. ...
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Interrelationship between Changes in the Amyloid β 42/40 Ratio and Presenilin 1 Conformation
... The ratio of the longer (Aβ42/Aβ43) to shorter (Aβ40) species is a critical factor determining amyloid fibril formation, neurotox- icity and progression of the amyloid pathology in Alzheimer’s disease. The relative ...
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Brain transcriptome analysis of a familial Alzheimer’s disease-like mutation in the zebrafish presenilin 1 gene implies effects on energy production
... : PRESENILIN 1 (human gene); PSEN1: PRESENILIN 1 (human protein); psen1 : presenilin 1 (zebrafish gene); Psen1: Presenilin 1 (zebrafish ...
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Dynamic presenilin 1 and synaptotagmin 1 interaction modulates exocytosis and amyloid β production
... The study reveals novel role of presenilin 1 (PS1) and syn- aptotagmin 1 (Syt1) at the synapse. It demonstrates that PS1 and Syt1 can influence each other function via direct interaction. ...
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A study of long-term potentiation in transgenic mice over-expressing mutant forms of both amyloid precursor protein and presenilin-1
... Synaptic transmission and long-term potentiation (LTP) in the CA1 region of hippocampal slices have been studied during ageing of a double transgenic mouse strain relevant to early-onset familial Alzheimer's disease ...
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Presenilin 1 in migration and morphogenesis in the central nervous system
... Presenilin 1 and 2 (Psen1 and Psen2) are polytopic membrane proteins that are mutated in the majority of pedigrees with early-onset familial Alzheimer’s disease (Price and Sisodia, ...
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Identification of the novel activity-driven interaction between synaptotagmin 1 and presenilin 1 links calcium, synapse, and amyloid beta
... Fig. 5 PS1 interacts with Syt1 in Ca 2+ -dependent manner in primary neurons. a Co-immunoprecipitation experiments demonstrate that KCl (n = 3) or calcium ionophore A23187 treatment (n = 3) of primary neurons that ...
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Familial Alzheimer disease–linked mutations specifically disrupt Ca2+ leak function of presenilin 1
... Mutations in presenilins are responsible for approximately 40% of all early-onset familial Alzheimer disease (FAD) cases in which a genetic cause has been identified. In addition, a number of mutations in ...
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Changes in γ-secretase activity and specificity caused by the introduction of consensus aspartyl protease active motif in Presenilin 1
... In order to explore the potential catalytic effect of the aspartic acid residues in PS1 TM 6 and 7 domains, we gen- erated mutant PS1 including those containing either a sin- gle DTG triplet or both triplets after ...
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Cerebrospinal fluid Presenilin-1 increases at asymptomatic stage in genetically determined Alzheimer’s disease
... Additional file 1: Figure S1. A β affects the dynamics and stability of the soluble PS1 complexes. (A) CHO cell were transfected with human PS1 or with the pcDNA3 expression plasmid as a control (Ø). CHO cells ...
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Evidence that the β-catenin Nuclear Translocation Assay Allows for Measuring Presenilin 1 Dysfunction
... -catenin after chemical induction of the Wnt pathway by LiCl stimulation is observed in cells expressing the three different PSEN1 mu- tations, compared with wt PSEN1-expressing cells. The differences in -catenin ...
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Structural biology of presenilin 1 complexes
... of presenilin complex: recent bi-lobed models Early in 2014, a considerable advance in the structural modeling of the presenilin complex was achieved when negative stain 3D electron microscopy data were ...
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C-Terminal Maturation Fragments of Presenilin 1 and 2 Control Secretion of APPα and Aβ by Human Cells and Are Degraded by Proteasome
... Results: We showed that transient and stable transfec- tion of CTF-PS1 and CTF-PS2 cDNAs in human cells leads to increased secretion of APPa and A,B, the matu-.. ration products of j3APP[r] ...
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Presenilin-1 regulates induction of hypoxia inducible factor-1α: altered activation by a mutation associated with familial Alzheimer's disease
... The Psen1-/- mice utilized were those generated by Shen et al. [84]. These animals were provided on a mixed genetic background and have been maintained by breeding to C57BL/6 wild type mice. Genotypes were determined by ...
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Developmental Expression of Wild-Type and Mutant Presenilin-1 in Hippocampal Neurons from Transgenic Mice: Evidence for Novel Species-Specific Properties of Human Presenilin-1
... The distribution of PS 1 in the transgenic neurons expressing human wtPS I and the M146L mutant was also investigated to determine whether the human proteins localized in a markedly diff[r] ...
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Binding of longer Aβ to transmembrane domain 1 of presenilin 1 impacts on Aβ42 generation
... Our unexpected observation of an abnormal secretion of longer Aβ45 from cells expressing P88L mutant PS1 prompted us to further investigate the functional role of TMD1 during the enzymatic process, especially the pro- ...
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APP-BP1 inhibits Aβ42 levels by interacting with Presenilin-1
... the DNA synthesis (S) phase and promotes entry into mitosis in dividing cells [2,6], presumably by neddylation of different Cullin proteins. Loss of APP-BP1 function in the Chinese hamster liver cell line, ts41 cells, ...
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Proteasome Inhibitors Prevent the Degradation of Familial Alzheimer’s Disease-Linked Presenilin 1 and Potentiate Aβ42 Recovery from Human Cells
... Materials and Methods: We set up stably transfected HEK293 cells overexpressing wild-type (wt) and various FAD-linked mutated PSI.. By Western blot analysis, we examined the influence of[r] ...
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Selective expression of presenilin 1 in neural progenitor cells rescues the cerebral hemorrhages and cortical lamination defects in presenilin 1 null mutant mice
... For immunohistochemical staining sections were blocked with PBS/0.1% Triton X-100/5% goat serum (TBS-TGS) for 30 minutes and primary antibodies were applied in TBS-TGS at room temperature overnight. The primary ...
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