In this study, Juaire et al. investigated disease-associated variants of the SRP54 GTPase using X-ray crystallography, biophysical tools, and cell-based assays. They demonstrated that defects in SRP-mediated protein secretion can explain phenotypes of severe neutropenia with Shwachman-Diamond-syndrome-like symptoms.
In this issue of Structure, Juaire et al. use X-ray crystallography, biophysical tools, and cell-based assays to investigate disease-associated variants of the SRP54 GTPase and to demonstrate that defects in SRP-mediated protein secretion can explain phenotypes of severe neutropenia with Shwachman-Diamond-syndrome-like symptoms.
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