Gaucher iPSC-Derived Macrophages Produce Elevated Levels of Inflammatory Mediators and Serve as a New Platform for Therapeutic Development

Reprogrammed Cells for Disease Modeling and Regenerative Medicine

(2013) Anne B.C. Cherry et al.   Annual Review of Medicine

B cell lymphoma and myeloma in murine Gaucher's disease

(2013) EV Pavlova et al.   JOURNAL OF PATHOLOGY

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

(2012) Ari Zimran et al.   BLOOD CELLS MOLECULES AND DISEASES

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

(2012) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: Evidence that N370S is a folding mutant

(2012) Gholamreza Babajani et al.   MOLECULAR GENETICS AND METABOLISM

The promise of induced pluripotent stem cells in research and therapy

(2012) Daisy A. Robinton et al.   NATURE

Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

(2012) L. M. Panicker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Gaucher disease gene GBA functions in immune regulation

(2012) J. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response

(2011) N. Dekker et al.   BLOOD

Global gene expression profile progression in Gaucher disease mouse models

(2011) You-Hai Xu et al.   BMC GENOMICS

Second-Generation Iminoxylitol-Based Pharmacological Chaperones for the Treatment of Gaucher Disease

(2011) Farah Oulaïdi et al.   ChemMedChem

A clinical perspective of IL-1β as the gatekeeper of inflammation

(2011) Charles A. Dinarello   EUROPEAN JOURNAL OF IMMUNOLOGY

Ex Vivoandin VivoEffects of Isofagomine on Acid β-Glucosidase Variants and Substrate Levels in Gaucher Disease

(2011) Ying Sun et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations

(2011) Jae Hyuk Choi et al.   MOLECULAR GENETICS AND METABOLISM

Efficient generation of transgene-free human induced pluripotent stem cells (iPSCs) by temperature-sensitive Sendai virus vectors

(2011) H. Ban et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase

(2010) Richie Khanna et al.   FEBS Journal

Gaucher disease with foamy transformed macrophages and erythrophagocytic activity

(2010) Maciej Machaczka et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Blocking interleukin-1β in acute and chronic autoinflammatory diseases

(2010) C. A. Dinarello   JOURNAL OF INTERNAL MEDICINE

Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage

(2010) P. K. Mistry et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

(2009) Tamar H. Taddei et al.   AMERICAN JOURNAL OF HEMATOLOGY

Gaucher disease and monoclonal gammopathy: A report of 17 cases and impact of therapy

(2009) Bernard Grosbois et al.   BLOOD CELLS MOLECULES AND DISEASES

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

(2009) Gustavo H. B. Maegawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature

(2008) M. de Fost et al.   ANNALS OF HEMATOLOGY

Isofagomine increases lysosomal delivery of exogenous glucocerebrosidase

(2008) Jin-Song Shen et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Disease-Specific Induced Pluripotent Stem Cells

(2008) In-Hyun Park et al.   CELL

Identification of Pharmacological Chaperones for Gaucher Disease and Characterization of Their Effects on β-Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry

(2008) Michael B. Tropak et al.   CHEMBIOCHEM

Induced Pluripotent Stem Cell Generation Using a Single Lentiviral Stem Cell Cassette

(2008) Cesar A. Sommer et al.   STEM CELLS