Article
The ZZ domain of dystrophin in DMD: making sense of missense mutations.
Human mutation - 1 Feb 2014
Vulin Adeline, Wein Nicolas, Strandjord Dana M, Johnson Eric K, Findlay Andrew R, Maiti Baijayanta, Howard Michael T, Kaminoh Yuuki J, Taylor Laura E, Simmons Tabatha R, Ray Will C, Montanaro Federica, Ervasti Jim M, Flanigan Kevin M
Abstract excerpt
Duchenne muscular dystrophy (DMD) is associated with the loss of dystrophin, which plays an important role in myofiber integrity via interactions with β-dystroglycan and other members of the transmembrane dystrophin-associated protein complex. The ZZ domain, a cysteine-rich zinc-finger domain near the dystrophin C-terminus, is implicated in forming a stable interaction between dystrophin and β-dystroglycan, but...
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