Macrophage Models of Gaucher Disease for Evaluating Disease Pathogenesis and Candidate Drugs

Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease

(2014) Karen E. Murphy et al.   BRAIN

Chaperone therapy update: Fabry disease, GM1-gangliosidosis and Gaucher disease

(2013) Yoshiyuki Suzuki   BRAIN & DEVELOPMENT

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

(2012) Matthew E. Gegg et al.   ANNALS OF NEUROLOGY

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

(2012) Gustavo Tiscornia et al.   HUMAN MOLECULAR GENETICS

Discovery, Structure–Activity Relationship, and Biological Evaluation of Noninhibitory Small Molecule Chaperones of Glucocerebrosidase

(2012) Samarjit Patnaik et al.   JOURNAL OF MEDICINAL CHEMISTRY

High Throughput Screening for Small Molecule Therapy for Gaucher Disease Using Patient Tissue as the Source of Mutant Glucocerebrosidase

(2012) Ehud Goldin et al.   PLoS One

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

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

(2011) N. Dekker et al.   BLOOD

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

(2011) Joseph R. Mazzulli et al.   CELL

Impaired Rho GTPase activation abrogates cell polarization and migration in macrophages with defective lipolysis

(2011) Elma Aflaki et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Animal models for Gaucher disease research

(2011) T. Farfel-Becker et al.   Disease Models & Mechanisms

Non-iminosugar glucocerebrosidase small molecule chaperones

(2011) Juan Jose Marugan et al.   MedChemComm

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

(2010) Richie Khanna et al.   FEBS Journal

NADPH oxidase activity controls phagosomal proteolysis in macrophages through modulation of the lumenal redox environment of phagosomes

(2010) J. M. Rybicka et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Homogeneous monocytes and macrophages from human embryonic stem cells following coculture-free differentiation in M-CSF and IL-3

(2008) Karl R. Karlsson et al.   EXPERIMENTAL HEMATOLOGY