A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred
about
BRICHOS - a superfamily of multidomain proteins with diverse functionsRegulated intramembrane proteolysis of Bri2 (Itm2b) by ADAM10 and SPPL2a/SPPL2bThe familial dementia BRI2 gene binds the Alzheimer gene amyloid-beta precursor protein and inhibits amyloid-beta productionBRI2 interacts with amyloid precursor protein (APP) and regulates amyloid beta (Abeta) productionBRI3 inhibits amyloid precursor protein processing in a mechanistically distinct manner from its homologue dementia gene BRI2BRI2 (ITM2b) inhibits Abeta deposition in vivoBeta-amyloid protein converting enzyme 1 and brain-specific type II membrane protein BRI3: binding partners processed by furinA surfactant protein C precursor protein BRICHOS domain mutation causes endoplasmic reticulum stress, proteasome dysfunction, and caspase 3 activationNeuropathological diagnosis of vascular cognitive impairment and vascular dementia with implications for Alzheimer's diseaseRegional distribution of amyloid-Bri deposition and its association with neurofibrillary degeneration in familial British dementiaConcurrence of Danish dementia and cataract: insights from the interactions of dementia associated peptides with eye lens alpha-crystallinItm2a, a target gene of GATA-3, plays a minimal role in regulating the development and function of T cellsAPP is cleaved by Bace1 in pre-synaptic vesicles and establishes a pre-synaptic interactome, via its intracellular domain, with molecular complexes that regulate pre-synaptic vesicles functionsDeletion of the γ-secretase subunits Aph1B/C impairs memory and worsens the deficits of knock-in mice modeling the Alzheimer-like familial Danish dementiaGeneration and initial characterization of FDD knock in miceSpecific chaperones and regulatory domains in control of amyloid formation.Aberrant protein structure and diseases of the brain.Neuroprotective natural antibodies to assemblies of amyloidogenic peptides decrease with normal aging and advancing Alzheimer's disease.Amyloid precursor protein-induced axonopathies are independent of amyloid-beta peptides.APP heterozygosity averts memory deficit in knockin mice expressing the Danish dementia BRI2 mutantSystemic amyloid deposits in familial British dementia.Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders.The chaperone domain BRICHOS prevents CNS toxicity of amyloid-β peptide in Drosophila melanogasterIowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid depositsGenetics and molecular pathogenesis of sporadic and hereditary cerebral amyloid angiopathiesModeling familial Danish dementia in mice supports the concept of the amyloid hypothesis of Alzheimer's disease.Transmissibility of systemic amyloidosis by a prion-like mechanism.Chromosome 13 dementia syndromes as models of neurodegeneration.The Worster-Drought syndrome and other syndromes of dementia with spastic paraparesis: the paradox of molecular pathology.PYROGLUTAMATE FORMATION AT THE N-TERMINI OF ABRI MOLECULES IN FAMILIAL BRITISH DEMENTIA IS NOT RESTRICTED TO THE CENTRAL NERVOUS SYSTEM.Gene identification in Alzheimer's disease.Abeta42 is essential for parenchymal and vascular amyloid deposition in mice.Danish dementia mice suggest that loss of function and not the amyloid cascade causes synaptic plasticity and memory deficitsGenetic alterations of the BRI2 gene: familial British and Danish dementias.Increased tau phosphorylation and tau truncation, and decreased synaptophysin levels in mutant BRI2/tau transgenic mice.An intracellular threonine of amyloid-β precursor protein mediates synaptic plasticity deficits and memory loss.Memory deficits due to familial British dementia BRI2 mutation are caused by loss of BRI2 function rather than amyloidosis.Proteolytically inactive insulin-degrading enzyme inhibits amyloid formation yielding non-neurotoxic aβ peptide aggregatesAlzheimer disease therapy: can the amyloid cascade be halted?Minimal model of self-assembly: emergence of diversity and complexity.
P2860
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P2860
A decamer duplication in the 3' region of the BRI gene originates an amyloid peptide that is associated with dementia in a Danish kindred
description
2000 nî lūn-bûn
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2000 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2000 թվականի ապրիլին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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name
A decamer duplication in the 3 ...... h dementia in a Danish kindred
@ast
A decamer duplication in the 3 ...... h dementia in a Danish kindred
@en
A decamer duplication in the 3 ...... h dementia in a Danish kindred
@nl
type
label
A decamer duplication in the 3 ...... h dementia in a Danish kindred
@ast
A decamer duplication in the 3 ...... h dementia in a Danish kindred
@en
A decamer duplication in the 3 ...... h dementia in a Danish kindred
@nl
prefLabel
A decamer duplication in the 3 ...... h dementia in a Danish kindred
@ast
A decamer duplication in the 3 ...... h dementia in a Danish kindred
@en
A decamer duplication in the 3 ...... h dementia in a Danish kindred
@nl
P2093
P2860
P3181
P356
P1476
A decamer duplication in the 3 ...... h dementia in a Danish kindred
@en
P2093
A Rostagno
B Frangione
H Braendgaard
J L Holton
M Bojsen-Møller
P2860
P304
P3181
P356
10.1073/PNAS.080076097
P407
P577
2000-04-25T00:00:00Z