Associated Papers
Hog1/p38 and ZAKα drive Shwachman-Diamond syndrome and provide targets to improve cell growth.
Kawashima N et al.
Biorxiv : the Preprint Server for Biology, 2026
Structural Implications of Missense Point Mutations in Shwachman-Bodian-Diamond Syndrome Protein (SBDS): A Combined SAXS/MD Investigation.
Mattiotti G et al.
Acs Omega, 2025
Reduced EIF6 dosage attenuates TP53 activation in models of Shwachman-Diamond syndrome.
Oyarbide U et al.
The Journal of Clinical Investigation, 2025
Chemotherapy-induced neutropenia management in a patient with metastatic breast cancer and Shwachman-Diamond syndrome (SDS): a case report.
Morecroft R et al.
Translational Breast Cancer Research : a Journal Focusing on Translational Research in Breast Cancer, 2024
SBDSR126T rescues survival of sbds -/- zebrafish in a dose-dependent manner independently of Tp53.
Oyarbide U et al.
Life Science Alliance, 2023
A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman-Bodian-Diamond Syndrome Protein SBDS.
Spinetti E et al.
International Journal of Molecular Sciences, 2022
Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations.
Gijsbers A et al.
International Journal of Molecular Sciences, 2018
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.
Warren AJ
Advances in Biological Regulation, 2018
SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention.
Calamita P et al.
Plos Genetics, 2017
Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs.
In K et al.
Nucleic Acids Research, 2016
In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.
Tourlakis ME et al.
Plos Genetics, 2015
Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
Burwick N et al.
Blood, 2012
Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.
Tourlakis ME et al.
Gastroenterology, 2012
Defective ribosome assembly in Shwachman-Diamond syndrome.
Wong CC et al.
Blood, 2011
Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
Finch AJ et al.
Genes & Development, 2011
A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
Newman AR et al.
Journal of Pediatric Hematology/oncology, 2009
Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.
Ball HL et al.
Human Molecular Genetics, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.
Shammas C et al.
The Journal of Biological Chemistry, 2005
Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E et al.
Blood Cells, Molecules & Diseases, 0