Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity.

@article{Kim2009PotentialLA,
  title={Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate \{alpha\}-secretase activity.},
  author={MinJi Kim and Jaehong Suh and D. Romano and Mimy H Truong and Kristina Mullin and Basavaraj Hooli and David Norton and Giuseppina Tesco and Kathy Elliott and Steven L. Wagner and Robert D. Moir and Karin. becker and Rudolph E. Tanzi},
  journal={Human molecular genetics},
  year={2009},
  volume={18 20},
  pages={3987-96}
}
ADAM10, a member of a disintegrin and metalloprotease family, is an alpha-secretase capable of anti-amyloidogenic proteolysis of the amyloid precursor protein. Here, we present evidence for genetic association of ADAM10 with Alzheimer's disease (AD) as well as two rare potentially disease-associated non-synonymous mutations, Q170H and R181G, in the ADAM10 prodomain. These mutations were found in 11 of 16 affected individuals (average onset age 69.5 years) from seven late-onset AD families. Each… CONTINUE READING
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