Presenilin structure, function and role in Alzheimer disease. (Q33971264)

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8 November 2019

review article

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title

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

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8 November 2019

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7

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Peter Henry St George-Hyslop

8 November 2019

9

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8 November 2019

author name string

P E Fraser

1

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8 November 2019

D S Yang

2

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8 November 2019

G Yu

3

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8 November 2019

L Lévesque

4

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8 November 2019

M Nishimura

5

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8 November 2019

S Arawaka

6

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8 November 2019

E Rogaeva

8

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8 November 2019

language of work or name

English

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publication date

1 July 2000

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Biochimica et Biophysica Acta

8 November 2019

published in

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8 November 2019

volume

1502

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8 November 2019

issue

1

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8 November 2019

page(s)

1-15

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

8 November 2019

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

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

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

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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.

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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

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

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

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

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

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

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

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Alternative Cleavage of Alzheimer-Associated Presenilins During Apoptosis by a Caspase-3 Family Protease

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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

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7 January 2021

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

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7 January 2021

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

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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

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7 January 2021

A detergent-insoluble membrane compartment contains A beta in vivo

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7 January 2021

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

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7 January 2021

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

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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.

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7 January 2021

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

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7 January 2021

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

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

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

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

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

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

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

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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

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Effects of PS1 deficiency on membrane protein trafficking in neurons

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

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Skeletal and CNS defects in Presenilin-1-deficient mice

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7 January 2021

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

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

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

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7 January 2021

Neurogenic phenotypes and altered Notch processing in Drosophila Presenilin mutants.

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Assessment of normal and mutant human presenilin function in Caenorhabditis elegans

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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

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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

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7 January 2021

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

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

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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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Cellular mechanisms of wingless/Wnt signal transduction

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

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7 January 2021

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

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7 January 2021

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

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

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

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Protein precipitation: a common etiology in neurodegenerative disorders?

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Identifiers

DOI

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8 November 2019

1 reference