Defective ribosome assembly in Shwachman-Diamond syndrome

Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?

(2011) A. W. Johnson et al.   GENES & DEVELOPMENT

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

(2011) A. J. Finch et al.   GENES & DEVELOPMENT

An ARF-Independent c-MYC-Activated Tumor Suppression Pathway Mediated by Ribosomal Protein-Mdm2 Interaction

(2010) Everardo Macias et al.   CANCER CELL

New insights into 5q- syndrome as a ribosomopathy

(2010) Jillian L. Barlow et al.   CELL CYCLE

The ribosomal basis of diamond-blackfan anemia: mutation and database update

(2010) Ilenia Boria et al.   HUMAN MUTATION

Mechanism of eIF6-mediated Inhibition of Ribosomal Subunit Joining

(2010) Marco Gartmann et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses

(2009) Heather L. Ball et al.   HUMAN MOLECULAR GENETICS

A p53-dependent mechanism underlies macrocytic anemia in a mouse model of human 5q– syndrome

(2009) Jillian L Barlow et al.   NATURE MEDICINE

Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein

(2009) C Leong Ng et al.   BMC STRUCTURAL BIOLOGY

Targeted Induction of Endoplasmic Reticulum Stress Induces Cartilage Pathology

(2009) M. Helen Rajpar et al.   PLoS Genetics

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

(2008) Karyn M. Austin et al.   JOURNAL OF CLINICAL INVESTIGATION

Identification of RPS14 as a 5q- syndrome gene by RNA interference screen

(2008) Benjamin L. Ebert et al.   NATURE

Ribosomal mutations cause p53-mediated dark skin and pleiotropic effects

(2008) Kelly A McGowan et al.   NATURE GENETICS

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function

(2008) Natalie C Jones et al.   NATURE MEDICINE