A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis

β-Amyloid precursor protein (APP) mutations cause familial Alzheimer’s disease with nearly complete penetrance. We found an APP mutation [alanine-673→valine-673 (A673V)] that causes disease only in the homozygous state, whereas heterozygous carriers were unaffected, consistent with a recessive Mende...

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Detalhes bibliográficos
Main Authors: Di Fede, Giuseppe, Catania, Marcella, Morbin, Michela, Rossi, Giacomina, Suardi, Silvia, Mazzoleni, Giulia, Merlin, Marco, Giovagnoli, Anna Rita, Prioni, Sara, Erbetta, Alessandra, Falcone, Chiara, Gobbi, Marco, Colombo, Laura, Bastone, Antonio, Beeg, Marten, Manzoni, Claudia, Francescucci, Bruna, Spagnoli, Alberto, Cantù, Laura, Del Favero, Elena, Levy, Efrat, Salmona, Mario, Tagliavini, Fabrizio
Formato: Artigo
Idioma:Inglês
Publicado em: 2009
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2728497/
https://ncbi.nlm.nih.gov/pubmed/19286555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1126/science.1168979
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