Phenotype associated with APP duplication in five families

scientific article published on 7 September 2006

Phenotype associated with APP duplication in five families is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1093/BRAIN/AWL237
P698PubMed publication ID16959815
P5875ResearchGate publication ID6830221

P50authorDominique CampionQ32424891
Didier HannequinQ32424966
Frédéric CheclerQ38321085
P2093author name stringCatherine Thomas-Antérion
Martine Vercelletto
Anne Vital
Annie Laquerrière
Florence Pasquier
Thierry Frebourg
Christophe Verny
Lucie Guyant-Maréchal
Lucie Cabrejo
Franck Letournel
François De la Fournière
P433issuePt 11
P407language of work or nameEnglishQ1860
P921main subjectphenotypeQ104053
P304page(s)2966-2976
P577publication date2006-09-07
P1433published inBrainQ897386
P1476titlePhenotype associated with APP duplication in five families
P478volume129

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cites work (P2860)
Q92188317A Longitudinal Study of Epileptic Seizures in Alzheimer's Disease
Q26798983A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome
Q41817650A perfect storm: Converging paths of epilepsy and Alzheimer's dementia intersect in the hippocampal formation
Q57384500A practical approach to diagnosing adult onset leukodystrophies
Q55315340A systematic approach for identifying shared mechanisms in epilepsy and its comorbidities
Q26785905A systematic review of familial Alzheimer's disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences
Q40991422ALS/FTD-associated FUS activates GSK-3β to disrupt the VAPB-PTPIP51 interaction and ER-mitochondria associations.
Q36028971APL-1, the Alzheimer's Amyloid precursor protein in Caenorhabditis elegans, modulates multiple metabolic pathways throughout development
Q48327983APLP1 and APLP2, members of the APP family of proteins, behave similarly to APP in that they associate with NMDA receptors and enhance NMDA receptor surface expression
Q39011999APP Mutations in Cerebral Amyloid Angiopathy with or without Cortical Calcifications: Report of Three Families and a Literature Review
Q36226613APP locus duplication in a Finnish family with dementia and intracerebral haemorrhage
Q37293809Abeta aggregation and possible implications in Alzheimer's disease pathogenesis
Q36478423Advances in the pathogenesis of Alzheimer's disease: a re-evaluation of amyloid cascade hypothesis
Q34219814Aging and cerebrovascular dysfunction: contribution of hypertension, cerebral amyloid angiopathy, and immunotherapy
Q41908070Aging and excitotoxic stress exacerbate neural circuit reorganization in amyloid precursor protein intracellular domain transgenic mice
Q38129324Aging and intellectual disability: insights from mouse models of Down syndrome
Q33586813Altered Kv2.1 functioning promotes increased excitability in hippocampal neurons of an Alzheimer's disease mouse model.
Q22251261Alzheimer's disease as homeostatic responses to age-related myelin breakdown
Q37422018Alzheimer-related protein APL-1 modulates lifespan through heterochronic gene regulation in Caenorhabditis elegans.
Q38006665Amyloid and Alzheimer's disease: inside and out.
Q36771307Amyloid precursor protein controls cholesterol turnover needed for neuronal activity
Q30489361Amyloid precursor protein-induced axonopathies are independent of amyloid-beta peptides
Q24622558Amyloid-beta-induced neuronal dysfunction in Alzheimer's disease: from synapses toward neural networks
Q26866265Amyloid-β induced signaling by cellular prion protein and Fyn kinase in Alzheimer disease
Q36739111An Anti-β-Amyloid Vaccine for Treating Cognitive Deficits in a Mouse Model of Down Syndrome
Q34442793An Intron 7 Polymorphism in APP Affects the Age of Onset of Dementia in Down Syndrome
Q92106898Anti-Aβ Antibodies and Cerebral Amyloid Angiopathy Complications
Q42179622Association of Tag SNPs and Rare CNVs of the MIR155HG/miR-155 Gene with Epilepsy in the Chinese Han Population
Q38259551Aβ degradation or cerebral perfusion? Divergent effects of multifunctional enzymes
Q37993451Aβ toxicity in Alzheimer's disease
Q26851244Caenorhabditis elegans as a model organism to study APP function
Q47965740Clinical aspects and biomarkers of Alzheimer's disease in Down syndrome.
Q38174619Clinical, biological, and imaging features of monogenic Alzheimer's Disease
Q37759873Cognitive deficits and associated neurological complications in individuals with Down's syndrome
Q27010627Common factors among Alzheimer's disease, Parkinson's disease, and epilepsy: possible role of the noradrenergic nervous system
Q33303453Copy number variants and common disorders: filling the gaps and exploring complexity in genome-wide association studies
Q33871345Current status on Alzheimer disease molecular genetics: from past, to present, to future
Q30412535DBA/2J genetic background exacerbates spontaneous lethal seizures but lessens amyloid deposition in a mouse model of Alzheimer's disease
Q104459061Delta-secretase triggers Alzheimer's disease pathologies in wild-type hAPP/hMAPT double transgenic mice
Q91410950Dementia in Down syndrome: unique insights for Alzheimer disease research
Q38865366Dementia in Down's syndrome
Q26777254Dissecting Alzheimer disease in Down syndrome using mouse models
Q42601869Down Syndrome, Partial Trisomy 21, and Absence of Alzheimer's Disease: The Role of APP.
Q36681400Down syndrome and the molecular pathogenesis resulting from trisomy of human chromosome 21.
Q36150463Down syndrome individuals with Alzheimer's disease have a distinct neuroinflammatory phenotype compared to sporadic Alzheimer's disease
Q36854788Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series
Q58785711Dysregulation of Neuronal Iron Homeostasis as an Alternative Unifying Effect of Mutations Causing Familial Alzheimer's Disease
Q64237829Early onset cerebral amyloid angiopathy following childhood exposure to cadaveric dura
Q35175125Early onset of hypersynchronous network activity and expression of a marker of chronic seizures in the Tg2576 mouse model of Alzheimer's disease
Q37719047Early-Onset Network Hyperexcitability in Presymptomatic Alzheimer's Disease Transgenic Mice Is Suppressed by Passive Immunization with Anti-Human APP/Aβ Antibody and by mGluR5 Blockade.
Q37606162Early-onset dementias: diagnostic and etiological considerations
Q38021307Early-onset familial Alzheimer's disease (EOFAD).
Q33616746Epilepsy and cognitive impairments in Alzheimer disease
Q22305926Etiologies of epilepsy: a comprehensive review
Q29301019Expanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease
Q93181542Facilitation of glutamate, but not GABA, release in Familial Alzheimer's APP mutant Knock-in rats with increased β-cleavage of APP
Q37542635Genetic animal models of cerebral vasculopathies
Q37633601Genetic suppression of transgenic APP rescues Hypersynchronous network activity in a mouse model of Alzeimer's disease
Q46300376Genomic disorders 20 years on-mechanisms for clinical manifestations
Q34634523Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype
Q37940158Implications of gene copy-number variation in health and diseases.
Q39328473Incidence and impact of subclinical epileptiform activity in Alzheimer's disease
Q24603560Inhibitory interneuron deficit links altered network activity and cognitive dysfunction in Alzheimer model
Q61855138Insights into genetics, human biology and disease gleaned from family based genomic studies
Q64041297Insights into genetics, human biology and disease gleaned from family based genomic studies
Q36528274Insulin receptor signaling mediates APP processing and β-amyloid accumulation without altering survival in a transgenic mouse model of Alzheimer's disease
Q29615626Intracellular amyloid-beta in Alzheimer's disease
Q26745369Intracerebral haemorrhage in Down syndrome: protected or predisposed?
Q57814457Large APP locus duplication in a sporadic case of cerebral haemorrhage
Q34462326Life extension factor klotho prevents mortality and enhances cognition in hAPP transgenic mice
Q53316377Linkage analysis of autopsy-confirmed familial Alzheimer disease supports an Alzheimer disease locus in 8q24.
Q43994098Low prevalence of APP duplications in Swedish and Finnish patients with early-onset Alzheimer's disease
Q37855656Mechanisms of neural and behavioral dysfunction in Alzheimer's disease
Q64270312Microbleeds and Cerebral Amyloid Angiopathy in the Brains of People with Down Syndrome with Alzheimer's Disease
Q33889532Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS
Q37209771Molecular genetics of Alzheimer's disease: an update
Q37964886Mouse models of Alzheimer's disease
Q38993138Mouse-based genetic modeling and analysis of Down syndrome
Q39112723Mutation screening of patients with Alzheimer disease identifies APP locus duplication in a Swedish patient
Q33705813Network Excitability Dysfunction in Alzheimer's Disease: Insights from In Vitro and In Vivo Models
Q38796950Network abnormalities and interneuron dysfunction in Alzheimer disease
Q50463961Neurons Derived from Induced Pluripotent Stem Cells of Patients with Down Syndrome Reproduce Early Stages of Alzheimer's Disease Type Pathology in vitro.
Q39196646Normalization of Overexpressed α-Synuclein Causing Parkinson's Disease By a Moderate Gene Silencing With RNA Interference
Q33831242Olfactory epithelium amyloid-beta and paired helical filament-tau pathology in Alzheimer disease
Q36974448Pan-neuronal expression of APL-1, an APP-related protein, disrupts olfactory, gustatory, and touch plasticity in Caenorhabditis elegans
Q60721200Patterns and severity of vascular amyloid in Alzheimer's disease associated with duplications and missense mutations in APP gene, Down syndrome and sporadic Alzheimer's disease
Q38218353Potential Similarities in Temporal Lobe Epilepsy and Alzheimer’s Disease: From Clinic to Pathology
Q37723422Regional distribution of synaptic markers and APP correlate with distinct clinicopathological features in sporadic and familial Alzheimer's disease
Q33608732Regulation of amyloid precursor protein processing by the Beclin 1 complex
Q37957630Role of APP for dendritic spine formation and stability
Q34070798Seizures and epilepsy in Alzheimer's disease
Q30577633Seizures and epileptiform activity in the early stages of Alzheimer disease
Q30575767Seizures in Alzheimer disease: clinical and epidemiological data
Q37583653Shared cognitive and behavioral impairments in epilepsy and Alzheimer's disease and potential underlying mechanisms
Q102369181TDP-43 interacts with amyloid-β, inhibits fibrillization, and worsens pathology in a model of Alzheimer's disease
Q27334314Tau Protein Mediates APP Intracellular Domain (AICD)-Induced Alzheimer's-Like Pathological Features in Mice
Q55385303Tau-Induced Pathology in Epilepsy and Dementia: Notions from Patients and Animal Models.
Q34165340The diagnosis of young-onset dementia.
Q34123651The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE.
Q36678673The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida
Q38094984The senescence hypothesis of disease progression in Alzheimer disease: an integrated matrix of disease pathways for FAD and SAD.
Q41887222The usefulness of biological and neuroimaging markers for the diagnosis of early-onset Alzheimer's disease
Q28082768Three dimensions of the amyloid hypothesis: time, space and 'wingmen'
Q46617670Thromboxane receptor activation mediates isoprostane-induced increases in amyloid pathology in Tg2576 mice
Q39450295Transcriptional regulation of APP by apoE: To boldly go where no isoform has gone before: ApoE, APP transcription and AD: Hypothesised mechanisms and existing knowledge gaps
Q38968481Treatment of epilepsy in patients with Alzheimer's disease
Q41428294Treatment with D3 removes amyloid deposits, reduces inflammation, and improves cognition in aged AβPP/PS1 double transgenic mice
Q37515518Understanding the molecular basis of Alzheimer's disease using a Caenorhabditis elegans model system
Q47431150Understanding the roles of mutations in the amyloid precursor protein in Alzheimer disease.
Q47706142What goes up must come down: homeostatic synaptic plasticity strategies in neurological disease
Q53296862[Hereditary Alzheimer's disease with amyloid angiopathy caused by amyloid precursor protein locus].

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