Molecular genetics of Alzheimer's disease: an update (Q37209771)

19 August 2017

1 reference

title

Molecular genetics of Alzheimer's disease: an update (English)

1 reference

Christine Van Broeckhoven

19 August 2017

0 references

series ordinal

3

object named as

Christine Van Broeckhoven

0 references

Kristel Sleegers

series ordinal

2

object named as

Kristel Sleegers

1 reference

19 August 2017

Nathalie Brouwers

1

0 references

language of work or name

English

0 references

publication date

1 January 2008

1 reference

19 August 2017

1 reference

19 August 2017

40

1 reference

19 August 2017

562-583

1 reference

19 August 2017

8

1 reference

Neuropathological stageing of Alzheimer-related changes

19 August 2017

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Role of Genes and Environments for Explaining Alzheimer Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Risk estimates of dementia by apolipoprotein E genotypes from a population-based incidence study: the Rotterdam Study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

The number of trait loci in late-onset Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Occurrence of neuropathological changes and dementia of Alzheimer's disease in Down's syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Amyloid plaque core protein in Alzheimer disease and Down syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

The precursor of Alzheimer's disease amyloid A4 protein resembles a cell-surface receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

The genetic defect causing familial Alzheimer's disease maps on chromosome 21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Mutation of the Alzheimer's disease amyloid gene in hereditary cerebral hemorrhage, Dutch type.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Hereditary cerebral hemorrhage with amyloidosis — Dutch type: its importance for Alzheimer research

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of beta-amyloid

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Amyloid precursor protein gene mutation in early-onset Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Genomic organization of the human amyloid beta-protein precursor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Amyloid beta-peptide is produced by cultured cells during normal metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Production of the Alzheimer amyloid beta protein by normal proteolytic processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Cleavage of amyloid beta peptide during constitutive processing of its precursor

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Potentially Amyloidogenic, Carboxyl-Terminal Derivatives of the Amyloid Protein Precursor

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Processing of the Amyloid Protein Precursor to Potentially Amyloidogenic Derivatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Isolation and quantification of soluble Alzheimer's beta-peptide from biological fluids

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Beta-secretase cleavage of Alzheimer's amyloid precursor protein by the transmembrane aspartic protease BACE

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

Presenilin-dependent gamma-secretase processing of beta-amyloid precursor protein at a site corresponding to the S3 cleavage of Notch

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Identification of a new presenilin-dependent zeta-cleavage site within the transmembrane domain of amyloid precursor protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

gamma-Cleavage is dependent on zeta-cleavage during the proteolytic processing of amyloid precursor protein within its transmembrane domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Equimolar production of amyloid beta-protein and amyloid precursor protein intracellular domain from beta-carboxyl-terminal fragment by gamma-secretase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Truncated carboxyl-terminal fragments of beta-amyloid precursor protein are processed to amyloid beta-proteins 40 and 42.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Longer forms of amyloid beta protein: implications for the mechanism of intramembrane cleavage by gamma-secretase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

DAPT-induced intracellular accumulations of longer amyloid beta-proteins: further implications for the mechanism of intramembrane cleavage by gamma-secretase.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

Release of excess amyloid beta protein from a mutant amyloid beta protein precursor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Processing amyloid precursor protein at the beta-site requires proper orientation to be accessed by BACE1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (beta APP717) mutants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Potential Link between Amyloid β-Protein 42 and C-terminal Fragment γ 49–99 of β-Amyloid Precursor Protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A TAG1-APP signalling pathway through Fe65 negatively modulates neurogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Cytoplasmic domain of the beta-amyloid protein precursor of Alzheimer's disease: function, regulation of proteolysis, and implications for drug development

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Flemish and Dutch mutations in amyloid beta precursor protein have different effects on amyloid beta secretion

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

The 'Arctic' APP mutation (E693G) causes Alzheimer's disease by enhanced Abeta protofibril formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Effects of the mutations Glu22 to Gln and Ala21 to Gly on the aggregation of a synthetic fragment of the Alzheimer's amyloid beta/A4 peptide.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Amyloid beta-protein fibrillogenesis. Detection of a protofibrillar intermediate.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Peptides homologous to the amyloid protein of Alzheimer's disease containing a glutamine for glutamic acid substitution have accelerated amyloid fibril formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Novel amyloid precursor protein mutation in an Iowa family with dementia and severe cerebral amyloid angiopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Enhanced pathologic properties of Dutch-type mutant amyloid beta-protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Toxicity of Dutch (E22Q) and Flemish (A21G) mutant amyloid beta proteins to human cerebral microvessel and aortic smooth muscle cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Phenotype associated with APP duplication in five families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Promoter mutations that increase amyloid precursor-protein expression are associated with Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Variations in the APP gene promoter region and risk of Alzheimer disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

{gamma}-Secretase Substrate Concentration Modulates the Abeta42/Abeta40 Ratio: IMPLICATIONS FOR ALZHEIMER DISEASE.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid beta-protein gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Failure of familial Alzheimer's disease to segregate with the A4-amyloid gene in several European families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the beta-amyloid sequence.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the alpha 1-antichymotrypsin gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A familial Alzheimer's disease locus on chromosome 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Presenilin mutations in Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A novel mutation in the predicted TM2 domain of the presenilin 2 gene in a Spanish patient with late-onset Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Extreme cerebrospinal fluid amyloid beta levels identify family with late-onset Alzheimer's disease presenilin 1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Genomic structure and expression of STM2, the chromosome 1 familial Alzheimer disease gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Regional and cellular presenilin 1 gene expression in human and rat tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Additional evidence for an eight-transmembrane-domain topology for Caenorhabditis elegans and human presenilins

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

The seven-transmembrane spanning topography of the Alzheimer disease-related presenilin proteins in the plasma membranes of cultured cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

The presenilins turned inside out: implications for their structures and functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A nine-transmembrane domain topology for presenilin 1

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Presenilin-1 maintains a nine-transmembrane topology throughout the secretory pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Characterization of human presenilin 1 using N-terminal specific monoclonal antibodies: Evidence that Alzheimer mutations affect proteolytic processing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Presenilin 1 controls gamma-secretase processing of amyloid precursor protein in pre-golgi compartments of hippocampal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Skeletal and CNS defects in Presenilin-1-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Presenilin 1 binds to amyloid precursor protein directly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Neurogenic phenotypes and altered Notch processing in Drosophila Presenilin mutants.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

Nicastrin modulates presenilin-mediated notch/glp-1 signal transduction and betaAPP processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

aph-1 and pen-2 are required for Notch pathway signaling, gamma-secretase cleavage of betaAPP, and presenilin protein accumulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

APH-1 is a multipass membrane protein essential for the Notch signaling pathway in Caenorhabditis elegans embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Reconstitution of gamma-secretase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Purification and characterization of the human gamma-secretase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

γ-Secretase is a membrane protein complex comprised of presenilin, nicastrin, aph-1, and pen-2

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

The role of presenilin cofactors in the gamma-secretase complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Intramembrane proteolysis by presenilin and presenilin-like proteases

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Got RIP? Presenilin-dependent intramembrane proteolysis in growth factor receptor signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A cell biological perspective on Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Different effects of Alzheimer-associated mutations of presenilin 1 on its processing

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

Proteolytic processing of presenilin-1 (PS-1) is not associated with Alzheimer's disease with or without PS-1 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Distinct mechanisms by mutant presenilin 1 and 2 leading to increased intracellular levels of amyloid beta-protein 42 in Chinese hamster ovary cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Two domains within the first putative transmembrane domain of presenilin 1 differentially influence presenilinase and gamma-secretase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Loss-of-function presenilin mutations in Alzheimer disease. Talking Point on the role of presenilin mutations in Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

When loss is gain: reduced presenilin proteolytic function leads to increased Abeta42/Abeta40. Talking Point on the role of presenilin mutations in Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Assessment of normal and mutant human presenilin function in Caenorhabditis elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

The -48 C/T polymorphism in the presenilin 1 promoter is associated with an increased risk of developing Alzheimer's disease and an increased Abeta load in brain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Regulatory region variability in the human presenilin-2 (PSEN2) gene: potential contribution to the gene activity and risk for AD.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A multigenerational pedigree of late-onset Alzheimer's disease implies new genetic causes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

An autosomal genomic screen for dementia in an extended Amish family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Autosomal dominant dementia with widespread neurofibrillary tangles.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Phenotypic variation in hereditary frontotemporal dementia with tau mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Tau (MAPT) mutation Arg406Trp presenting clinically with Alzheimer disease does not share a common founder in Western Europe

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

The tau R406W mutation causes progressive presenile dementia with bitemporal atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Familial presenile dementia with bitemporal atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Frontotemporal dementia in The Netherlands: patient characteristics and prevalence estimates from a population-based study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Missense mutations in the progranulin gene linked to frontotemporal lobar degeneration with ubiquitin-immunoreactive inclusions reduce progranulin production and secretion.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Apolipoprotein E immunoreactivity in cerebral amyloid deposits and neurofibrillary tangles in Alzheimer's disease and kuru plaque amyloid in Creutzfeldt-Jakob disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Association of apolipoprotein E allele epsilon 4 with late-onset familial and sporadic Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Protective effect of apolipoprotein E type 2 allele for late onset Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Alzheimer's disease and possible gene interaction.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

ApoE genotype and familial Alzheimer's disease: a possible influence on age of onset in APP717 Val-->Ile mutated families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Epistatic effect of APP717 mutation and apolipoprotein E genotype in familial Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

APOE and other loci affect age-at-onset in Alzheimer's disease families with PS2 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

APOE genotype does not modulate age of onset in families with chromosome 14 encoded Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Apolipoprotein Eepsilon4 modifies Alzheimer's disease onset in an E280A PS1 kindred.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A polymorphism in the regulatory region of APOE associated with risk for Alzheimer's dementia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A new polymorphism in the APOE promoter associated with risk of developing Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Risk for Alzheimer's disease correlates with transcriptional activity of the APOE gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Expanding the association between the APOE gene and the risk of Alzheimer's disease: possible roles for APOE promoter polymorphisms and alterations in APOE transcription.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Increased amyloid beta-peptide deposition in cerebral cortex as a consequence of apolipoprotein E genotype in late-onset Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Lack of apolipoprotein E dramatically reduces amyloid beta-peptide deposition.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Apolipoprotein E is essential for amyloid deposition in the APP(V717F) transgenic mouse model of Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Apolipoprotein E associates with beta amyloid peptide of Alzheimer's disease to form novel monofibrils. Isoform apoE4 associates more efficiently than apoE3

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Apolipoprotein E is a kinetic but not a thermodynamic inhibitor of amyloid formation: implications for the pathogenesis and treatment of Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Apolipoprotein E isoform-dependent amyloid deposition and neuritic degeneration in a mouse model of Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Expression of human apolipoprotein E reduces amyloid-beta deposition in a mouse model of Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Induction of Alzheimer-like beta-amyloid immunoreactivity in the brains of rabbits with dietary cholesterol.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Hypercholesterolemia accelerates the Alzheimer's amyloid pathology in a transgenic mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Cholesterol modulates alpha-secretase cleavage of amyloid precursor protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Modulation of secreted beta-amyloid precursor protein and amyloid beta-peptide in brain by cholesterol.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Cholesterol depletion inhibits the generation of beta-amyloid in hippocampal neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Alzheimer's disease: one disorder, too many genes?

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Genetic association between intronic polymorphism in presenilin-1 gene and late-onset Alzheimer's disease. Alzheimer's Disease Collaborative Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

The gene encoding nicastrin, a major gamma-secretase component, modifies risk for familial early-onset Alzheimer disease in a Dutch population-based sample

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

SORL1 is genetically associated with increased risk for late-onset Alzheimer disease in the Belgian population

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Genetic variants in a haplotype block spanning IDE are significantly associated with plasma Abeta42 levels and risk for Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Association of late-onset Alzheimer disease with a genotype of PLAU, the gene encoding urokinase-type plasminogen activator on chromosome 10q22.2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Lack of association of neprilysin polymorphism with Alzheimer's disease and Alzheimer's disease-type neuropathological changes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Association of late-onset Alzheimer's disease with genetic variation in multiple members of the GAPD gene family

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Dynamin-binding protein gene on chromosome 10q is associated with late-onset Alzheimer's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

DAPK1 variants are associated with Alzheimer's disease and allele-specific expression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Evidence for novel susceptibility genes for late-onset Alzheimer's disease from a genome-wide association study of putative functional variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

New Alzheimer's disease locus on chromosome 8

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A genome-wide linkage analysis of dementia in the Amish

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Fine mapping of 10q and 18q for familial Alzheimer's disease in Caribbean Hispanics

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Genome-wide linkage disequilibrium mapping of late-onset Alzheimer's disease in Finland.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Identification of multiple loci for Alzheimer disease in a consanguineous Israeli-Arab community.

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Lack of association of two chromosome 10q24 SNPs with Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Single-nucleotide polymorphism rs498055 on chromosome 10q24 is not associated with Alzheimer disease in two independent family samples

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A common variant on chromosome 9p21 affects the risk of myocardial infarction

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A common allele on chromosome 9 associated with coronary heart disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Evidence that common variation in NEDD9 is associated with susceptibility to late-onset Alzheimer's and Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Common Kibra alleles are associated with human memory performance

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

A novel transmembrane topology of presenilin based on reconciling experimental and computational evidence

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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/10.1080%2F07853890802186905

Apolipoprotein E genotype and Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Variation in DCP1, encoding ACE, is associated with susceptibility to Alzheimer disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Expanded Genomewide Scan Implicates a Novel Locus at 3q28 Among Caribbean Hispanics With Familial Alzheimer Disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Amyloid beta protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch)

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

Amyloid-associated proteins α1-antichymotrypsin and apolipoprotein E promote assembly of Alzheimer β-protein into filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1080%2F07853890802186905

10.1080/07853890802186905

21 January 2018

Identifiers

DOI

1 reference

19 August 2017

1 reference

PubMed ID

18608129