(Q33971264)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

review article

1 reference

title

Presenilin structure, function and role in Alzheimer disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

0 references

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

Peter Henry St George-Hyslop

8 November 2019

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

author name string

P E Fraser

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

D S Yang

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

G Yu

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

L Lévesque

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

M Nishimura

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

S Arawaka

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

E Rogaeva

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

language of work or name

English

0 references

publication date

1 July 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

Biochimica et Biophysica Acta

8 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

volume

1502

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

page(s)

1-15

1 reference

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8 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder.

8 November 2019

cites work

1 reference

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7 January 2021

Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease

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7 January 2021

Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene

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7 January 2021

Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues

1 reference

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7 January 2021

Phosphorylation, subcellular localization, and membrane orientation of the Alzheimer's disease-associated presenilins.

1 reference

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7 January 2021

Proteolytic fragments of Alzheimer's disease-associated presenilin 1 are present in synaptic organelles and growth cone membranes of rat brain.

1 reference

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7 January 2021

The presenilin 1 protein is a component of a high molecular weight intracellular complex that contains beta-catenin

1 reference

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7 January 2021

Cell surface presenilin-1 participates in the gamma-secretase-like proteolysis of Notch

1 reference

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7 January 2021

Estimation of the Genetic Contribution of Presenilin-1 and -2 Mutations in a Population-Based Study of Presenile Alzheimer Disease

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7 January 2021

Mutations of the presenilin I gene in families with early-onset Alzheimer's disease

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7 January 2021

Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families

1 reference

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7 January 2021

Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion.

1 reference

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7 January 2021

A presenilin-1 Thr116Asn substitution in a family with early-onset Alzheimer's disease.

1 reference

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7 January 2021

Cell-type-specific enhancement of amyloid-beta deposition in a novel presenilin-1 mutation (P117L).

1 reference

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7 January 2021

A novel mutation of presenilin 1 in familial Alzheimer's disease in Israel detected by denaturing gradient gel electrophoresis

1 reference

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7 January 2021

Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE).

1 reference

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7 January 2021

A pedigree with a novel presenilin 1 mutation at a residue that is not conserved in presenilin 2.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation.

1 reference

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7 January 2021

De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.

1 reference

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7 January 2021

The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families

1 reference

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7 January 2021

Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online.

1 reference

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7 January 2021

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

A presenilin 1 mutation (Ser169Pro) associated with early-onset AD and myoclonic seizures.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Early-onset Alzheimer's disease caused by a novel mutation at codon 219 of the presenilin-1 gene.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

The clinical phenotype of two missense mutations in the presenilin I gene in Japanese patients.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Familial Alzheimer's chromosome 14 mutations.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Identification of a novel mutation (Leu282Arg) of the human presenilin 1 gene in Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Analysis of the 5' sequence, genomic structure, and alternative splicing of the presenilin-1 gene (PSEN1) associated with early onset Alzheimer disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Evidence for a six-transmembrane domain structure of presenilin 1.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Protein topology of presenilin 1

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Presenilins interact with armadillo proteins including neural-specific plakophilin-related protein and beta-catenin

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Membrane topology of Alzheimer's disease-related presenilin 1. Evidence for the existence of a molecular species with a seven membrane-spanning and one membrane-embedded structure

1 reference

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7 January 2021

Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Presenilin Proteins Undergo Heterogeneous Endoproteolysis between Thr291and Ala299and Occur as Stable N- and C-Terminal Fragments in Normal and Alzheimer Brain Tissue

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Presenilin 1 is actively degraded by the 26S proteasome.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Stable association of presenilin derivatives and absence of presenilin interactions with APP.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Alternative cleavage of Alzheimer-associated presenilins during apoptosis by a caspase-3 family protease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Alzheimer's disease associated presenilin-1 holoprotein and its 18-20 kDa C-terminal fragment are death substrates for proteases of the caspase family

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Caspase-mediated cleavage is not required for the activity of presenilins in amyloidogenesis and NOTCH signaling.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Generation of anti-apoptotic presenilin-2 polypeptides by alternative transcription, proteolysis, and caspase-3 cleavage

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

The proteolytic fragments of the Alzheimer's disease-associated presenilin-1 form heterodimers and occur as a 100-150-kDa molecular mass complex

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

A detergent-insoluble membrane compartment contains A beta in vivo.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Expression of Alzheimer's disease-associated presenilin-1 is controlled by proteolytic degradation and complex formation

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Evidence that levels of presenilins (PS1 and PS2) are coordinately regulated by competition for limiting cellular factors.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Molecular dissection of domains in mutant presenilin 2 that mediate overproduction of amyloidogenic forms of amyloid beta peptides. Inability of truncated forms of PS2 with familial Alzheimer's disease mutation to increase secretion of Abeta42.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Presenilin 1 interaction in the brain with a novel member of the Armadillo family

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Direct interaction of Alzheimer's disease-related presenilin 1 with armadillo protein p0071

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Abrogation of the presenilin 1/beta-catenin interaction and preservation of the heterodimeric presenilin 1 complex following caspase activation

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Formation of stable complexes between two Alzheimer's disease gene products: presenilin-2 and beta-amyloid precursor protein

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Interaction between amyloid precursor protein and presenilins in mammalian cells: implications for the pathogenesis of Alzheimer disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Mutation of a putative sperm membrane protein in Caenorhabditis elegans prevents sperm differentiation but not its associated meiotic divisions

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Presenilin mutations associated with Alzheimer disease cause defective intracellular trafficking of beta-catenin, a component of the presenilin protein complex

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Presenilin 1 regulates the processing of beta-amyloid precursor protein C-terminal fragments and the generation of amyloid beta-protein in endoplasmic reticulum and Golgi.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Effects of PS1 deficiency on membrane protein trafficking in neurons.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Two transmembrane aspartates in presenilin-1 required for presenilin endoproteolysis and gamma-secretase activity

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Skeletal and CNS defects in Presenilin-1-deficient mice

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Presenilin is required for activity and nuclear access of Notch in Drosophila

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Neurogenic phenotypes and altered Notch processing in Drosophila Presenilin mutants.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

A role for presenilin-1 in nuclear accumulation of Ire1 fragments and induction of the mammalian unfolded protein response

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

An Alzheimer's disease-linked PS1 variant rescues the developmental abnormalities of PS1-deficient embryos.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Mutant human presenilin 1 protects presenilin 1 null mouse against embryonic lethality and elevates Abeta1-42/43 expression.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Assessment of normal and mutant human presenilin function in Caenorhabditis elegans

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing.

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Secreted amyloid beta-protein similar to that in the senile plaques of Alzheimer's disease is increased in vivo by the presenilin 1 and 2 and APP mutations linked to familial Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Familial Alzheimer's disease-linked presenilin 1 variants elevate Abeta1-42/1-40 ratio in vitro and in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid beta-protein in both transfected cells and transgenic mice

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Amyloid-beta-protein isoforms in brain of subjects with PS1-linked, beta APP-linked and sporadic Alzheimer disease

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Requirement of the familial Alzheimer's disease gene PS2 for apoptosis. Opposing effect of ALG-3

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Alzheimer-associated presenilin-2 confers increased sensitivity to apoptosis in PC12 cells

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Participation of presenilin 2 in apoptosis: enhanced basal activity conferred by an Alzheimer mutation

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Cellular mechanisms of wingless/Wnt signal transduction

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Destabilization of beta-catenin by mutations in presenilin-1 potentiates neuronal apoptosis

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Presenilin 1 associates with glycogen synthase kinase-3beta and its substrate tau

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Tau phosphorylation in cells transfected with wild-type or an Alzheimer's disease mutant Presenilin 1

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Candidate gene for the chromosome 1 familial Alzheimer's disease locus

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

Protein precipitation: a common etiology in neurodegenerative disorders?

1 reference

https://api.crossref.org/works/10.1016%2FS0925-4439%2800%2900028-4

7 January 2021

10.1016/S0925-4439(00)00028-4

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10899427%20AND%20SRC:MED&resulttype=core&format=json

8 November 2019

1 reference