A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.

@article{Fede2009ARM,
  title={A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.},
  author={Giuseppe Di Fede and Marcella Catania and Michela Morbin and Giacomina Rossi and Silvia Suardi and Giulia Mazzoleni and Marco Merlin and Anna Rita Giovagnoli and Sara Prioni and A Erbetta and Chiara Falcone and Marco Gobbi and Laura Colombo and Antonio Bastone and Marten Beeg and Claudia Manzoni and Bruna Francescucci and Alberto Spagnoli and Laura Beatriz Cant{\'u} and Elena del Favero and Efrat Levy and Mario Salmona and Fabrizio Tagliavini},
  journal={Science},
  year={2009},
  volume={323 5920},
  pages={
          1473-7
        }
}
beta-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 Mendelian trait of inheritance. The A673V mutation affected APP processing, resulting in enhanced beta-amyloid (Abeta) production and formation of amyloid fibrils in vitro. Co-incubation of mutated… CONTINUE READING

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Protein Sci 2007;16:1214

J Meinhardt
  • 2007
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