Article
The helicase and ATPase activities of RECQL4 are compromised by mutations reported in three human patients.
Aging - 1 Nov 2012
Jensen Martin Borch, Dunn Christopher A, Keijzers Guido, Kulikowicz Tomasz, Rasmussen Lene Juel, Croteau Deborah L, Bohr Vilhelm A
Abstract excerpt
RECQL4 is one of five members of the human RecQ helicase family, and is implicated in three syndromes displaying accelerating aging, developmental abnormalities and a predisposition to cancer. In this study, we purified three variants of RECQL4 carrying previously reported patient mutations. These three mutant proteins were analyzed for the known biochemical activities of RECQL4: DNA binding, unwinding of duplex...
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