A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
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A mutation in APP protects against Alzheimer’s disease and age-related cognitive declineExtracellular phosphorylation of the amyloid β-peptide promotes formation of toxic aggregates during the pathogenesis of Alzheimer's disease.The genetic landscape of Alzheimer disease: clinical implications and perspectivesStructural Conversion of Aβ17-42 Peptides from Disordered Oligomers to U-Shape Protofilaments via Multiple Kinetic PathwaysAssociation of Long Runs of Homozygosity With Alzheimer Disease Among African American IndividualsRarity of the Alzheimer disease-protective APP A673T variant in the United StatesGenetic diagnosis and prognosis of Alzheimer's disease: challenges and opportunitiesAdditional mechanisms conferring genetic susceptibility to Alzheimer's diseaseAmyloid-beta (Aβ) D7H mutation increases oligomeric Aβ42 and alters properties of Aβ-zinc/copper assembliesA quantitative analysis of spontaneous isoaspartate formation from N-terminal asparaginyl and aspartyl residues.Early accumulation of intracellular fibrillar oligomers and late congophilic amyloid angiopathy in mice expressing the Osaka intra-Aβ APP mutation.Evidence of recessive Alzheimer disease loci in a Caribbean Hispanic data set: genome-wide survey of runs of homozygosity.A human carboxypeptidase E/NF-α1 gene mutation in an Alzheimer's disease patient leads to dementia and depression in mice.The turn formation at positions 22 and 23 in the 42-mer amyloid beta peptide: the emerging role in the pathogenesis of Alzheimer's disease.Tetracycline prevents Aβ oligomer toxicity through an atypical supramolecular interaction.Iowa variant of familial Alzheimer's disease: accumulation of posttranslationally modified AbetaD23N in parenchymal and cerebrovascular amyloid depositsAlzheimer's Aβ peptides with disease-associated N-terminal modifications: influence of isomerisation, truncation and mutation on Cu2+ coordination.Intrinsic determinants of neurotoxic aggregate formation by the amyloid beta peptideExpression of A2V-mutated Aβ in Caenorhabditis elegans results in oligomer formation and toxicity.Function, therapeutic potential and cell biology of BACE proteases: current status and future prospects.Current status on Alzheimer disease molecular genetics: from past, to present, to future.Amyloid β Protein and Alzheimer's Disease: When Computer Simulations Complement Experimental Studies.Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndromeCauses versus effects: the increasing complexities of Alzheimer's disease pathogenesis.The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE.Targeting the β secretase BACE1 for Alzheimer's disease therapy.The Alzheimer disease protective mutation A2T modulates kinetic and thermodynamic properties of amyloid-β (Aβ) aggregation.Interplay of histidine residues of the Alzheimer's disease Aβ peptide governs its Zn-induced oligomerization.dbSAP: single amino-acid polymorphism database for protein variation detection.Maternal transmission of Alzheimer's disease: prodromal metabolic phenotype and the search for genes.Crucial role of nonspecific interactions in amyloid nucleation.A Food and Drug Administration-approved asthma therapeutic agent impacts amyloid β in the brain in a transgenic model of Alzheimer disease.Alzheimer's protective A2T mutation changes the conformational landscape of the Aβ₁₋₄₂ monomer differently than does the A2V mutation.The peculiar role of the A2V mutation in amyloid-β (Aβ) 1-42 molecular assemblySpecific antibody binding to the APP672-699 region shifts APP processing from α- to β-cleavageHomozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease familyAmyloidosis associated with cerebral amyloid angiopathy: cell signaling pathways elicited in cerebral endothelial cells.Alzheimer's disease: a clinical practice-oriented review.Autosomal recessive causes likely in early-onset Alzheimer disease.Amyloid precursor protein mutation E682K at the alternative β-secretase cleavage β'-site increases Aβ generation.
P2860
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P2860
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
description
article científic
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article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
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scientific article published on March 2009
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
@en
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
@nl
type
label
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
@en
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
@nl
prefLabel
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
@en
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
@nl
P2093
P2860
P50
P356
P1433
P1476
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis
@en
P2093
Alberto Spagnoli
Anna Rita Giovagnoli
Antonio Bastone
Bruna Francescucci
Chiara Falcone
Efrat Levy
Giacomina Rossi
Giulia Mazzoleni
Laura Cantù
Laura Colombo
P2860
P304
P356
10.1126/SCIENCE.1168979
P407
P50
P577
2009-03-01T00:00:00Z