Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells

Epstein-Barr virus ensures B cell survival by uniquely modulating apoptosis at early and late times after infection

(2017) Alexander M Price et al.   eLife

Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression

(2016) Bijoyita Roy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

New insights into the Shwachman-Diamond Syndrome-related haematological disorder: hyper-activation of mTOR and STAT3 in leukocytes

(2016) Valentino Bezzerri et al.   Scientific Reports

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

(2016) Silvia Ravera et al.   Scientific Reports

Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome

(2015) Angela Mercuri et al.   EUROPEAN JOURNAL OF HAEMATOLOGY

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

Tissue-specific variation in nonsense mutant transcript level and drug-induced read-through efficiency in the Cln1 R151X mouse model of INCL

(2015) Vaughn Thada et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Mechanism of eIF6 release from the nascent 60S ribosomal subunit

(2015) Félix Weis et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Mechanism of eIF6 release from the nascent 60S ribosomal subunit

(2015) Félix Weis et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

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

Delamanid: First Global Approval

(2014) Nicola J. Ryan et al.   DRUGS

Pleiotropic roles of mTOR complexes in haemato-lymphopoiesis and leukemogenesis

(2014) T. Hoshii et al.   JOURNAL OF BIOCHEMISTRY

Ataluren for the treatment of nonsense-mutation cystic fibrosis: a randomised, double-blind, placebo-controlled phase 3 trial

(2014) Eitan Kerem et al.   Lancet Respiratory Medicine

Targeting PI3K/Akt/mTOR Signaling in Cancer

(2014) Camillo Porta et al.   Frontiers in Oncology

Comparison of read-through effects of aminoglycosides and PTC124 on rescuing nonsense mutations of HERG gene associated with long QT syndrome

(2013) HAIYUN YU et al.   INTERNATIONAL JOURNAL OF MOLECULAR MEDICINE

Cytopenia and autoimmune diseases: A vicious cycle fueled by mTOR dysregulation in hematopoietic stem cells

(2013) Pan Zheng et al.   JOURNAL OF AUTOIMMUNITY

Phase 2a Study of Ataluren-Mediated Dystrophin Production in Patients with Nonsense Mutation Duchenne Muscular Dystrophy

(2013) Richard S. Finkel et al.   PLoS One

A Lack of Premature Termination Codon Read-Through Efficacy of PTC124 (Ataluren) in a Diverse Array of Reporter Assays

(2013) Stuart P. McElroy et al.   PLOS BIOLOGY

Ataluren as an Agent for Therapeutic Nonsense Suppression

(2012) Stuart W. Peltz et al.   Annual Review of Medicine

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

Incidence of Shwachman-Diamond syndrome

(2012) Antonella Minelli et al.   PEDIATRIC BLOOD & CANCER

Perspectives on inhibiting mTOR as a future treatment strategy for hematological malignancies

(2010) N Chapuis et al.   LEUKEMIA

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

(2009) Claudia Orelio et al.   PLoS One

SBDS-deficiency results in specific hypersensitivity to Fas stimulation and accumulation of Fas at the plasma membrane

(2008) Ken-ichiro Watanabe et al.   APOPTOSIS

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

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