Article
Potential late-onset Alzheimer's disease-associated mutations in the ADAM10 gene attenuate {alpha}-secretase activity.
Human molecular genetics - 15 Oct 2009
Kim Minji, Suh Jaehong, Romano Donna, Truong Mimy H, Mullin Kristina, Hooli Basavaraj, Norton David, Tesco Giuseppina, Elliott Kathy, Wagner Steven L, Moir Robert D, Becker K David, Tanzi Rudolph E
Abstract excerpt
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...
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