(Q53243372)

English

Cases of Alzheimer's disease due to deletion of exon 9 of the presenilin-1 gene show an unusual but characteristic beta-amyloid pathology known as 'cotton wool' plaques.

scientific article published in June 2001

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scholarly article

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

Cases of Alzheimer's disease due to deletion of exon 9 of the presenilin-1 gene show an unusual but characteristic beta-amyloid pathology known as 'cotton wool' plaques. (English)

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

0 references

Alzheimer's disease

1 reference

based on heuristic

inferred from title

5

object named as

Lantos PL

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

author name string

Mann DM

1

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

Takeuchi A

2

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

Sato S

3

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

Cairns NJ

4

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

Rossor MN

6

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

Haltia M

7

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

Kalimo H

8

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

Iwatsubo T

9

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

publication date

1 June 2001

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

Neuropathology and Applied Neurobiology

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Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

27

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http://europepmc.org/abstract/MED/11489138

3

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12 May 2018

http://europepmc.org/abstract/MED/11489138

189-196

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

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/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

Abeta-peptide length and apolipoprotein E genotype in Alzheimer's disease.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

Monoclonal antibody AT8 recognises tau protein phosphorylated at both serine 202 and threonine 205.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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).

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

Presenilin 1 is linked with gamma-secretase activity in the detergent solubilized state

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

Photoactivated gamma-secretase inhibitors directed to the active site covalently label presenilin 1

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

Atypical amyloid (A beta) deposition in the cerebellum in Alzheimer's disease: an immunohistochemical study using end-specific A beta monoclonal antibodies.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

Preferential deposition of amyloid beta protein (Abeta) in the form Abeta40 in Alzheimer's disease is associated with a gene dosage effect of the apolipoprotein E E4 allele.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

Increased Abeta42(43) from cell lines expressing presenilin 1 mutations.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

Monoclonal antibodies with selective specificity for Alzheimer Tau are directed against phosphatase-sensitive epitopes

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

Direct association of presenilin-1 with beta-catenin

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

Alzheimer disease PS-1 exon 9 deletion defined.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

Variable phenotype of Alzheimer's disease with spastic paraparesis.

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2990.2001.00316.X

21 January 2018

Identifiers

10.1046/J.1365-2990.2001.00316.X

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

1 reference

Europe PubMed Central

12 May 2018

http://europepmc.org/abstract/MED/11489138

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