(Q41663079)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

G206D Mutation of Presenilin-1 Reduces Pen2 Interaction, Increases Aβ42/Aβ40 Ratio and Elevates ER Ca(2+) Accumulation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

GOA release 2020-03-11

endoplasmic reticulum calcium ion homeostasis

1 reference

GOA release 2020-03-11

author

Wei-Ting Chen

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

author name string

Yi-Fang Hsieh

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Yan-Jing Huang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Che-Ching Lin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Yen-Tung Lin

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Yu-Chao Liu

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Cheng-Chang Lien

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

Irene Han-Juo Cheng

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

language of work or name

1 reference

15 November 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

published in

Molecular Neurobiology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

page(s)

1835-1849

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

The amyloid hypothesis of Alzheimer's disease: progress and problems on the road to therapeutics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

beta-Amyloid-(1-42) is a major component of cerebrovascular amyloid deposits: implications for the pathology of Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Abeta42 is essential for parenchymal and vascular amyloid deposition in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Reconstitution of gamma-secretase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

The role of presenilin cofactors in the gamma-secretase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

A presenilin-1-dependent gamma-secretase-like protease mediates release of Notch intracellular domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Deficiency of presenilin-1 inhibits the normal cleavage of amyloid precursor protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Presenilin 2 deficiency causes a mild pulmonary phenotype and no changes in amyloid precursor protein processing but enhances the embryonic lethal phenotype of presenilin 1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Presenilin-1 exists in both pre- and post-Golgi compartments and recycles via COPI-coated membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Trafficking and proteolytic processing of APP

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

The discrepancy between presenilin subcellular localization and gamma-secretase processing of amyloid precursor protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Masking of transmembrane-based retention signals controls ER export of gamma-secretase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Evidence that the "NF" motif in transmembrane domain 4 of presenilin 1 is critical for binding with PEN-2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Pen-2 is incorporated into the gamma-secretase complex through binding to transmembrane domain 4 of presenilin 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Polar transmembrane-based amino acids in presenilin 1 are involved in endoplasmic reticulum localization, Pen2 protein binding, and γ-secretase complex stabilization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

The mechanism of γ-Secretase dysfunction in familial Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

A novel epsilon-cleavage within the transmembrane domain of the Alzheimer amyloid precursor protein demonstrates homology with Notch processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Presenilin-dependent gamma-secretase processing of beta-amyloid precursor protein at a site corresponding to the S3 cleavage of Notch

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Skeletal and CNS defects in Presenilin-1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Presenilin 1 is required for Notch1 and DII1 expression in the paraxial mesoderm

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Presenilins form ER Ca2+ leak channels, a function disrupted by familial Alzheimer's disease-linked mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Lysosomal proteolysis and autophagy require presenilin 1 and are disrupted by Alzheimer-related PS1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Regulators of calcium homeostasis identified by inference of kinetic model parameters from live single cells perturbed by siRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Presenilins and calcium signaling-systems biology to the rescue

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Reduced synaptic STIM2 expression and impaired store-operated calcium entry cause destabilization of mature spines in mutant presenilin mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Mutant presenilins disturb neuronal calcium homeostasis in the brain of transgenic mice, decreasing the threshold for excitotoxicity and facilitating long-term potentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Presenilins regulate calcium homeostasis and presynaptic function via ryanodine receptors in hippocampal neurons.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

The role of calcium and other ions in sorting and delivery in the late endocytic pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Presenilins: a novel link between intracellular calcium signaling and lysosomal function?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Lysosomal calcium homeostasis defects, not proton pump defects, cause endo-lysosomal dysfunction in PSEN-deficient cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Presenilin-null cells have altered two-pore calcium channel expression and lysosomal calcium: implications for lysosomal function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Twenty years of the Alzheimer's disease amyloid hypothesis: a genetic perspective

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Tumor necrosis factor-alpha-elicited stimulation of gamma-secretase is mediated by c-Jun N-terminal kinase-dependent phosphorylation of presenilin and nicastrin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Presenilin-1 regulates the expression of p62 to govern p62-dependent tau degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

The evolutionarily conserved interaction between LC3 and p62 selectively mediates autophagy-dependent degradation of mutant huntingtin

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Fringe glycosyltransferases differentially modulate Notch1 proteolysis induced by Delta1 and Jagged1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Temporal control of nuclear envelope assembly by phosphorylation of lamin B receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Dissection of the autophagosome maturation process by a novel reporter protein, tandem fluorescent-tagged LC3

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Analysis of apoptosis by propidium iodide staining and flow cytometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Mathematical analysis of DNA distributions derived from flow microfluorometry

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Presenilin 1 mutations activate gamma 42-secretase but reciprocally inhibit epsilon-secretase cleavage of amyloid precursor protein (APP) and S3-cleavage of notch

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Presenilin-1 mutations of leucine 166 equally affect the generation of the Notch and APP intracellular domains independent of their effect on Abeta 42 production

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Notch-1 signalling requires ligand-induced proteolytic release of intracellular domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Lack of evidence for presenilins as endoplasmic reticulum Ca2+ leak channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

SERCA pump activity is physiologically regulated by presenilin and regulates amyloid beta production

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

The beta subunit of the Sec61 complex facilitates cotranslational protein transport and interacts with the signal peptidase during translocation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Mutant presenilin 1 increases the levels of Alzheimer amyloid beta-peptide Abeta42 in late compartments of the constitutive secretory pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

rab5 controls early endosome fusion in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Mutations in amyloid precursor protein and presenilin-1 genes increase the basal oxidative stress in murine neuronal cells and lead to increased sensitivity to oxidative stress mediated by amyloid beta-peptide (1-42), HO and kainic acid: implication

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Deficiency of presenilin-1 increases calcium-dependent vulnerability of neurons to oxidative stress in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

The presenilin C-terminus is required for ER-retention, nicastrin-binding and gamma-secretase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Endoplasmic reticulum retention of the gamma-secretase complex component Pen2 by Rer1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Rer1p competes with APH-1 for binding to nicastrin and regulates gamma-secretase complex assembly in the early secretory pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Familial Alzheimer disease presenilin-1 mutations alter the active site conformation of γ-secretase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Abeta42 overproduction associated with structural changes in the catalytic pore of gamma-secretase: common effects of Pen-2 N-terminal elongation and fenofibrate

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Calcium ionophore increases amyloid beta peptide production by cultured cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Clarifying lysosomal storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Lysosome and calcium dysregulation in Alzheimer's disease: partners in crime

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Synaptic and endosomal localization of active gamma-secretase in rat brain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Endoplasmic reticulum stress-induced cysteine protease activation in cortical neurons: effect of an Alzheimer's disease-linked presenilin-1 knock-in mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

A presenilin-1 mutation renders neurons vulnerable to isoflurane toxicity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Familial Alzheimer's disease presenilin-1 mutants potentiate cell cycle arrest

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Presenilin overexpression arrests cells in the G1 phase of the cell cycle. Arrest potentiated by the Alzheimer's disease PS2(N141I)mutant

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Wingless and Notch regulate cell-cycle arrest in the developing Drosophila wing

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

A founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Very early-onset familial Alzheimer's disease: a novel presenilin 1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Sequence analyses of presenilin mutations linked to familial Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12035-014-8969-1

Familial Alzheimer's disease presenilin 1 mutations cause alterations in the conformation of presenilin and interactions with amyloid precursor protein.

21 January 2018

1 reference

12 December 2020

[Flow cytometry measurement of DNA fragmentation in the course of cell death via apoptosis. New techniques for evaluation of DNA status for the pathologist]

1 reference

12 December 2020

Presenilin-1 mutations increase levels of ryanodine receptors and calcium release in PC12 cells and cortical neurons

1 reference

12 December 2020

A role for presenilins in autophagy revisited: normal acidification of lysosomes in cells lacking PSEN1 and PSEN2.

1 reference

12 December 2020

Wild-type but not FAD mutant presenilin-1 prevents neuronal degeneration by promoting phosphatidylinositol 3-kinase neuroprotective signaling

1 reference

12 December 2020

Dysregulated IP3 signaling in cortical neurons of knock-in mice expressing an Alzheimer's-linked mutation in presenilin1 results in exaggerated Ca2+ signals and altered membrane excitability.

1 reference

12 December 2020

Role of potentially charged transmembrane residues in targeting proteins for retention and degradation within the endoplasmic reticulum

1 reference

12 December 2020

gamma-Secretase: successive tripeptide and tetrapeptide release from the transmembrane domain of beta-carboxyl terminal fragment.

1 reference

12 December 2020

A new generation of Ca2+ indicators with greatly improved fluorescence properties

1 reference

12 December 2020

Presenilin is necessary for efficient proteolysis through the autophagy-lysosome system in a γ-secretase-independent manner

1 reference

12 December 2020

Clinical phenotype of G206D mutation in the presenilin 1 gene in pathologically confirmed familial Alzheimer's disease

1 reference

12 December 2020

NMDA-mediated Ca(2+) influx drives aberrant ryanodine receptor activation in dendrites of young Alzheimer's disease mice

1 reference

12 December 2020

10.1007/S12035-014-8969-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

22 February 2020

1022622151

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25394380%20AND%20SRC:MED&resulttype=core&format=json