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Mutations in the nebulin gene in a child with nemaline (rod) myopathy

Seema Kapoor1, Ankur Singh, Vilma-Lotta Lehtokari

  • 1Division of Genetics, Department of Pediatrics, Maulana Azad Medical College, New Delhi 110002, India. drseemakapoor@gmail.com

Indian Journal of Pediatrics
|September 4, 2012
PubMed

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Nonsense-mediated mRNA Decay

The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
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