Article
Medulloblastoma-associated mutations in the DEAD-box RNA helicase DDX3X/DED1 cause specific defects in translation.
The Journal of biological chemistry - 1 Jan 2000
Brown Nicolette P, Vergara Ashley M, Whelan Alisha B, Guerra Paolo, Bolger Timothy A
Abstract excerpt
Medulloblastoma is the most common pediatric brain cancer, and sequencing studies identified frequent mutations in DDX3X, a DEAD-box RNA helicase primarily implicated in translation. Forty-two different sites were identified, suggesting that the functional effects of the mutations are complex. To investigate how these mutations are affecting DDX3X cellular function, we constructed a full set of equivalent mutant...
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