(Q33245678)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16752394%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Mean age-of-onset of familial alzheimer disease caused by presenilin mutations correlates with both increased Abeta42 and decreased Abeta40 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16752394%20AND%20SRC:MED&resulttype=core&format=json

early-onset autosomal dominant Alzheimer disease

29 January 2020

main subject

Alzheimer's disease

0 references

1 reference

1

1 reference

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29 January 2020

Jessie Theuns

2

1 reference

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29 January 2020

Daniel Pirici

4

1 reference

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29 January 2020

Daniel Pirici

5

1 reference

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Christine Van Broeckhoven

29 January 2020

11

object named as

Christine Van Broeckhoven

1 reference

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29 January 2020

8

Marc Cruts

1 reference

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29 January 2020

author name string

Bianca Van Broeck

3

1 reference

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29 January 2020

Krist'l Vennekens

6

1 reference

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29 January 2020

Ellen Corsmit

7

1 reference

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29 January 2020

Bart Dermaut

9

1 reference

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29 January 2020

Rong Wang

10

1 reference

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29 January 2020

publication date

1 July 2006

1 reference

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29 January 2020

1 reference

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29 January 2020

volume

27

1 reference

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29 January 2020

issue

7

1 reference

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29 January 2020

page(s)

686-695

1 reference

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Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --> Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease

29 January 2020

cites work

1 reference

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7 January 2021

A cell biological perspective on Alzheimer's disease

1 reference

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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

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7 January 2021

Presenilin clinical mutations can affect gamma-secretase activity by different mechanisms

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20336

7 January 2021

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

1 reference

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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

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7 January 2021

Genetic testing should not be advocated as a diagnostic tool in familial forms of dementia

1 reference

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7 January 2021

Presenilin mutations in Alzheimer's disease

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20336

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20336

7 January 2021

Pathogenic APP mutations near the gamma-secretase cleavage site differentially affect Abeta secretion and APP C-terminal fragment stability.

1 reference

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7 January 2021

The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease

1 reference

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7 January 2021

Mean age of onset in familial Alzheimer's disease is determined by amyloid beta 42.

1 reference

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7 January 2021

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

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7 January 2021

Prospective Belgian study of neurodegenerative and vascular dementia: APOE genotype effects

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7 January 2021

High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes

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7 January 2021

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

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7 January 2021

Abeta is targeted to the vasculature in a mouse model of hereditary cerebral hemorrhage with amyloidosis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20336

7 January 2021

Amyloid beta protein (A beta) deposition: A beta 42(43) precedes A beta 40 in Down syndrome

1 reference

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7 January 2021

Nonfibrillar diffuse amyloid deposition due to a gamma(42)-secretase site mutation points to an essential role for N-truncated A beta(42) in Alzheimer's disease

1 reference

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7 January 2021

In vitro studies of Flemish, Dutch, and wild-type beta-amyloid provide evidence for two-staged neurotoxicity

1 reference

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7 January 2021

Dense-core plaques in Tg2576 and PSAPP mouse models of Alzheimer's disease are centered on vessel walls

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20336

7 January 2021

Assessment of normal and mutant human presenilin function in Caenorhabditis elegans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20336

7 January 2021

Neurochemical diagnosis of Alzheimer's dementia by CSF Abeta42, Abeta42/Abeta40 ratio and total tau.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20336

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20336

7 January 2021

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/10.1002%2FHUMU.20336

7 January 2021

Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20336

7 January 2021

Presenilins in memory, Alzheimer's disease, and therapy

1 reference

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7 January 2021

Abeta42 is essential for parenchymal and vascular amyloid deposition in mice

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7 January 2021

Soluble pool of Abeta amyloid as a determinant of severity of neurodegeneration in Alzheimer's disease

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7 January 2021

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

1 reference

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7 January 2021

Cerebral microvascular amyloid beta protein deposition induces vascular degeneration and neuroinflammation in transgenic mice expressing human vasculotropic mutant amyloid beta precursor protein

1 reference

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7 January 2021

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

1 reference

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7 January 2021

High-level neuronal expression of abeta 1-42 in wild-type human amyloid protein precursor transgenic mice: synaptotoxicity without plaque formation

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Loss of presenilin function causes impairments of memory and synaptic plasticity followed by age-dependent neurodegeneration

1 reference

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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/10.1002%2FHUMU.20336

7 January 2021

Detection of a novel intraneuronal pool of insoluble amyloid beta protein that accumulates with time in culture

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expression.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20336

7 January 2021

Identification of caspases that cleave presenilin-1 and presenilin-2

1 reference

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7 January 2021

Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.

1 reference

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7 January 2021

The profile of soluble amyloid beta protein in cultured cell media. Detection and quantification of amyloid beta protein and variants by immunoprecipitation-mass spectrometry

1 reference

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7 January 2021

The levels of soluble versus insoluble brain Abeta distinguish Alzheimer's disease from normal and pathologic aging

1 reference

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7 January 2021

Familial Alzheimer's disease mutations inhibit gamma-secretase-mediated liberation of beta-amyloid precursor protein carboxy-terminal fragment

1 reference

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7 January 2021

Elevation of beta-amyloid peptide 2-42 in sporadic and familial Alzheimer's disease and its generation in PS1 knockout cells.

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Enhanced production and oligomerization of the 42-residue amyloid beta-protein by Chinese hamster ovary cells stably expressing mutant presenilins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20336

7 January 2021