SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention

Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome

(2016) Silvia Ravera et al.   Scientific Reports

Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes

(2015) N. A. Zambetti et al.   HAEMATOLOGICA

Eukaryotic translation initiation factor 6 is a novel regulator of reactive oxygen species-dependent megakaryocyte maturation

(2015) S. Ricciardi et al.   JOURNAL OF THROMBOSIS AND HAEMOSTASIS

eIF6 coordinates insulin sensitivity and lipid metabolism by coupling translation to transcription

(2015) Daniela Brina et al.   Nature Communications

Direct and high throughput (HT) interactions on the ribosomal surface by iRIA

(2015) Elisa Pesce et al.   Scientific Reports

In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency

(2015) Marina E. Tourlakis et al.   PLoS Genetics

Deficiency of the ribosome biogenesis gene Sbds in hematopoietic stem and progenitor cells causes neutropenia in mice by attenuating lineage progression in myelocytes

(2015) N. A. Zambetti et al.   HAEMATOLOGICA

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

Trimmomatic: a flexible trimmer for Illumina sequence data

(2014) Anthony M. Bolger et al.   BIOINFORMATICS

Marrow failure: a window into ribosome biology

(2014) D. Ruggero et al.   BLOOD

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia

(2014) Anna Aspesi et al.   GENE

An integrated genomics approach identifies drivers of proliferation in luminal-subtype human breast cancer

(2014) Michael L Gatza et al.   NATURE GENETICS

p53-Independent Cell Cycle and Erythroid Differentiation Defects in Murine Embryonic Stem Cells Haploinsufficient for Diamond Blackfan Anemia-Proteins: RPS19 versus RPL5

(2014) Sharon A. Singh et al.   PLoS One

GSAASeqSP: A Toolset for Gene Set Association Analysis of RNA-Seq Data

(2014) Qing Xiong et al.   Scientific Reports

Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome

(2013) Adrianna L. Henson et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Pluripotent Stem Cell Models of Shwachman-Diamond Syndrome Reveal a Common Mechanism for Pancreatic and Hematopoietic Dysfunction

(2013) Asmin Tulpule et al.   Cell Stem Cell

Growth control and ribosomopathies

(2013) Teng Teng et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Translation factors and ribosomal proteins control tumor onset and progression: how?

(2013) F Loreni et al.   ONCOGENE

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Deficiency of Sbds in the Mouse Pancreas Leads to Features of Shwachman–Diamond Syndrome, With Loss of Zymogen Granules

(2012) Marina E. Tourlakis et al.   GASTROENTEROLOGY

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

(2012) J. Donadieu et al.   HAEMATOLOGICA

Clinical and Molecular Pathophysiology of Shwachman–Diamond Syndrome

(2012) Kasiani C. Myers et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS

(2012) Gulay Sezgin et al.   PEDIATRIC BLOOD & CANCER

The ribosome-related protein, SBDS, is critical for normal erythropoiesis

(2011) S. Sen et al.   BLOOD

Defective ribosome assembly in Shwachman-Diamond syndrome

(2011) C. C. Wong et al.   BLOOD

Impairment of Cytoplasmic eIF6 Activity Restricts Lymphomagenesis and Tumor Progression without Affecting Normal Growth

(2011) Annarita Miluzio et al.   CANCER CELL

Translational control by 80S formation and 60S availability: The central role of eIF6, a rate limiting factor in cell cycle progression and tumorigenesis

(2011) Daniela Brina et al.   CELL CYCLE

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

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

An efficient factor-depleted mammalian in vitro translation system

(2011) Aurélie M Rakotondrafara et al.   Nature Protocols

The Role of p53 in Ribosomopathies

(2011) Stefano Fumagalli et al.   SEMINARS IN HEMATOLOGY

Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells

(2010) S. Dutt et al.   BLOOD

Ribosomopathies: human disorders of ribosome dysfunction

(2010) A. Narla et al.   BLOOD

Bone progenitor dysfunction induces myelodysplasia and secondary leukaemia

(2010) Marc H. G. P. Raaijmakers et al.   NATURE

SBDS-deficiency results in deregulation of reactive oxygen species leading to increased cell death and decreased cell growth

(2010) Chhaya Ambekar et al.   PEDIATRIC BLOOD & CANCER

ClueGO: a Cytoscape plug-in to decipher functionally grouped gene ontology and pathway annotation networks

(2009) Gabriela Bindea et al.   BIOINFORMATICS

CRTC2 (TORC2) Contributes to the Transcriptional Response to Fasting in the Liver but Is Not Required for the Maintenance of Glucose Homeostasis

(2009) John Le Lay et al.   Cell Metabolism

Shwachman-Diamond Syndrome: A Review of the Clinical Presentation, Molecular Pathogenesis, Diagnosis, and Treatment

(2009) Lauri Burroughs et al.   HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA

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

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

SUnSET, a nonradioactive method to monitor protein synthesis

(2009) Enrico K Schmidt et al.   NATURE METHODS

SBDS Expression and Localization at the Mitotic Spindle in Human Myeloid Progenitors

(2009) Claudia Orelio et al.   PLoS One

Shwachman–Diamond syndrome is associated with structural brain alterations on MRI

(2008) Sanna Toiviainen-Salo et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family

(2008) N. Danilova et al.   BLOOD

Shwachman–Diamond syndrome: implications for understanding the molecular basis of leukaemia

(2008) Yigal Dror   EXPERT REVIEWS IN MOLECULAR MEDICINE

SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway

(2008) P. Rujkijyanont et al.   HAEMATOLOGICA

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

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

Eukaryotic initiation factor 6 is rate-limiting in translation, growth and transformation

(2008) Valentina Gandin et al.   NATURE