SAMD9L autoinflammatory or ataxia pancytopenia disease mutations activate cell-autonomous translational repression
The experiments here advance understanding of the function of the SAMD9L gene and protein in innate immune mechanisms in resisting virus infection and in the pathogenesis of inflammatory, hematological, and neurological disorders. The clinical syndrome defined in two children with de novo truncating SAMD9L mutations expands the phenotypes in this newly recognized autoinflammatory disorder. Analysis of cells expressing normal or mutant SAMD9L reveals the protein represses protein translation, wit...
New South Wales Robert Brink Qiagen Rneasy Biosystems Quantstudio Eastern Sydney Local Health Network Garvan Institute Of Medical Research
Source: pnas.org