A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques (Q40841627)

24 September 2017

title

A pathogenic presenilin-1 deletion causes abberrant Abeta 42 production in the absence of congophilic amyloid plaques (English)

1 reference

24 September 2017

12

Haass C

1 reference

24 September 2017

Steiner H

1

1 reference

24 September 2017

Revesz T

2

1 reference

24 September 2017

Neumann M

3

1 reference

24 September 2017

Romig H

4

1 reference

24 September 2017

Grim MG

5

1 reference

24 September 2017

Pesold B

6

1 reference

24 September 2017

Kretzschmar HA

7

1 reference

24 September 2017

Hardy J

8

1 reference

24 September 2017

Holton JL

9

1 reference

24 September 2017

Baumeister R

10

1 reference

24 September 2017

Houlden H

11

1 reference

24 September 2017

language of work or name

English

0 references

publication date

17 November 2000

1 reference

Journal of Biological Chemistry

24 September 2017

published in

1 reference

24 September 2017

volume

276

1 reference

24 September 2017

issue

10

1 reference

24 September 2017

page(s)

7233-7239

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

24 September 2017

1 reference

Alpha-2 macroglobulin is genetically associated with Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Abeta-generating enzymes: recent advances in beta- and gamma-secretase research

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Structural neurology: are seeds at the root of neuronal degeneration?

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Structural and kinetic features of amyloid beta-protein fibrillogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Amyloid beta protein (Abeta) deposition in chromosome 14-linked Alzheimer's disease: predominance of Abeta42(43).

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

A loss of function mutation of presenilin-2 interferes with amyloid beta-peptide production and notch signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Zebrafish (Danio rerio) presenilin promotes aberrant amyloid beta-peptide production and requires a critical aspartate residue for its function in amyloidogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Are presenilins intramembrane-cleaving proteases? Implications for the molecular mechanism of Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Proteolytic release and nuclear translocation of Notch-1 are induced by presenilin-1 and impaired by pathogenic presenilin-1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

The presenilins in Alzheimer's disease--proteolysis holds the key.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Skeletal and CNS defects in Presenilin-1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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/10.1074%2FJBC.M007183200

Mice lacking both presenilin genes exhibit early embryonic patterning defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Assessment of normal and mutant human presenilin function in Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Alzheimer disease PS-1 exon 9 deletion defined.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

The biological and pathological function of the presenilin-1 Deltaexon 9 mutation is independent of its defect to undergo proteolytic processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Intracellular generation and accumulation of amyloid beta-peptide terminating at amino acid 42.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

A modular set of lacZ fusion vectors for studying gene expression in Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Variant Alzheimer's disease with spastic paraparesis: clinical characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Presenilin mutations in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Amyloidogenic function of the Alzheimer's disease-associated presenilin 1 in the absence of endoproteolysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Endoproteolytic processing and stabilization of wild-type and mutant presenilin

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

The presenilins and Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Additive effects of PS1 and APP mutations on secretion of the 42-residue amyloid beta-protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Evidence for phosphorylation and oligomeric assembly of presenilin 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Visualization of A beta 42(43) and A beta 40 in senile plaques with end-specific A beta monoclonals: evidence that an initially deposited species is A beta 42(43).

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Distinct sites of intracellular production for Alzheimer's disease A beta40/42 amyloid peptides.

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Alzheimer's A beta(1-42) is generated in the endoplasmic reticulum/intermediate compartment of NT2N cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Immunization with amyloid-beta attenuates Alzheimer-disease-like pathology in the PDAPP mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Enhancement of amyloid beta 42 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Cytoskeletal pathology in familial cerebral amyloid angiopathy (British type) with non-neuritic amyloid plaque formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

A stop-codon mutation in the BRI gene associated with familial British dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

The presenilin genes: a new gene family involved in Alzheimer disease pathology

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Evidence That Intramolecular Associations between Presenilin Domains Are Obligatory for Endoproteolytic Processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

The transmembrane aspartates in presenilin 1 and 2 are obligatory for gamma-secretase activity and amyloid beta-protein generation

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Peptidomimetic probes and molecular modeling suggest that Alzheimer's gamma-secretase is an intramembrane-cleaving aspartyl protease

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

Variant Alzheimer's disease with spastic paraparesis and cotton wool plaques is caused by PS-1 mutations that lead to exceptionally high amyloid-beta concentrations

21 January 2018

1 reference

https://api.crossref.org/works/10.1074%2FJBC.M007183200

21 January 2018

Identifiers

DOI

10.1074/JBC.M007183200

1 reference

24 September 2017

1 reference