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

By A. Rovelet-Lecrux, D. Hannequin, G. Raux, N. L. Meur, A. Laquérriere, A. Vital, C. Dumanchin, Sebastien Feuillette, A. Brice, M. Vercelletto and 3 more. Nature Genetics, 2006

1,270 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology

View Paper: https://www.semanticscholar.org/paper/6e0a58061ba2cd81e209dc0ac500c0f4aaa51e2d

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In Genetics

1. J. R. Lupski
2. C. Carvalho
3. Yves Moreau
4. Berislav Zlokovic
5. D. Holtzman
6. Feng Zhang
7. W. Gu
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In Molecular Biology

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6. J. R. Lupski
7. A. Sagare
8. R. Deane

Citations in the corpus

• Aβ Oligomers – a decade of discovery (2007, background): “duplication of the APP locus on chromosome 21 caused early onset AD and/or cerebral amyloid angiopathy in five unrelated families (Rovelet-Lecrux et al. 2006).”
• A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. (2007, background): “, 2006) (Figure S4) causing mental retardation and seizures in males, APP duplications associated with Alzheimer’s disease (Cabrejo et al., 2006; Rovelet-Lecrux et al., 2006), SNCA duplications (Chartier-Harlin et al.”
• apoE isoform-specific disruption of amyloid beta peptide clearance from mouse brain. (2008, background): “Clearance of Alzheimer’s amyloid β(1-40)-peptide from brain by LDL receptor-related protein-1 at the blood-brain barrier.”
• Neurovascular pathways to neurodegeneration in Alzheimer’s disease and other disorders (2011, background): “Duplication of the gene encoding APP causes early-onset Alzheimer's disease dementia with CAA and intracerebral haemorrhag”
• Classification and basic pathology of Alzheimer disease (2009, background): “More recently severe CAA has been linked to the microduplication of the APP gene [273].”