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

Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

(2011) Kenneth J. Valenzano et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

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

(2011) Joseph R. Mazzulli et al.   CELL

Pharmacological chaperone therapy for Gaucher disease: a patent review

(2011) Juan M Benito et al.   EXPERT OPINION ON THERAPEUTIC PATENTS

Generation of dendritic cells and macrophages from human induced pluripotent stem cells aiming at cell therapy

(2011) S Senju et al.   GENE THERAPY

Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification

(2011) Hsiang-Po Huang et al.   HUMAN MOLECULAR GENETICS

Diseases in a dish: modeling human genetic disorders using induced pluripotent cells

(2011) Gustavo Tiscornia et al.   NATURE MEDICINE

Hematopoietic differentiation and production of mature myeloid cells from human pluripotent stem cells

(2011) Kyung-Dal Choi et al.   Nature Protocols

Bicyclic (galacto)nojirimycin analogues as glycosidase inhibitors: Effect of structural modifications in their pharmacological chaperone potential towards β-glucocerebrosidase

(2011) Matilde Aguilar-Moncayo et al.   ORGANIC & BIOMOLECULAR CHEMISTRY

Brief Report: Efficient Generation of Hematopoietic Precursors and Progenitors from Human Pluripotent Stem Cell Lines

(2011) Niels-Bjarne Woods et al.   STEM CELLS

Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome)

(2010) J. Tolar et al.   BLOOD

Differential Modeling of Fragile X Syndrome by Human Embryonic Stem Cells and Induced Pluripotent Stem Cells

(2010) Achia Urbach et al.   Cell Stem Cell

A Fluorescent sp2-Iminosugar With Pharmacological Chaperone Activity for Gaucher Disease: Synthesis and Intracellular Distribution Studies

(2010) Zhuo Luan  et al.   CHEMBIOCHEM

Generation of HIV-1 Resistant and Functional Macrophages From Hematopoietic Stem Cell–derived Induced Pluripotent Stem Cells

(2010) Amal Kambal et al.   MOLECULAR THERAPY

Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome

(2010) Xonia Carvajal-Vergara et al.   NATURE

Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients

(2010) Suneet Agarwal et al.   NATURE

Epigenetic memory in induced pluripotent stem cells

(2010) K. Kim et al.   NATURE

Cell type of origin influences the molecular and functional properties of mouse induced pluripotent stem cells

(2010) Jose M Polo et al.   NATURE BIOTECHNOLOGY

Velaglucerase alfa

(2010) Johannes M. F. G. Aerts et al.   NATURE REVIEWS DRUG DISCOVERY

Patient-Specific Induced Pluripotent Stem-Cell Models for Long-QT Syndrome

(2010) Alessandra Moretti et al.   NEW ENGLAND JOURNAL OF MEDICINE

Persistent Donor Cell Gene Expression among Human Induced Pluripotent Stem Cells Contributes to Differences with Human Embryonic Stem Cells

(2010) Zhumur Ghosh et al.   PLoS One

Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency

(2010) B.-Y. Hu 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

Generation of Induced Pluripotent Stem Cells from Human Cord Blood Using OCT4 and SOX2

(2009) Alessandra Giorgetti et al.   Cell Stem Cell

Chaperone Activity of Bicyclic Nojirimycin Analogues for Gaucher Mutations in Comparison withN-(n-nonyl)Deoxynojirimycin

(2009) Zhuo Luan et al.   CHEMBIOCHEM

Functional Cardiomyocytes Derived From Human Induced Pluripotent Stem Cells

(2009) Jianhua Zhang et al.   CIRCULATION RESEARCH

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

(2009) Giancarlo Parenti   EMBO Molecular Medicine

Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs

(2009) Gabsang Lee et al.   NATURE

Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells

(2009) Ángel Raya et al.   NATURE

Differential methylation of tissue- and cancer-specific CpG island shores distinguishes human induced pluripotent stem cells, embryonic stem cells and fibroblasts

(2009) Akiko Doi et al.   NATURE GENETICS

A Plant-Derived Recombinant Human Glucocerebrosidase Enzyme—A Preclinical and Phase I Investigation

(2009) David Aviezer et al.   PLoS One

Transcriptional Signature and Memory Retention of Human-Induced Pluripotent Stem Cells

(2009) Maria C. N. Marchetto et al.   PLoS One

Generation of pluripotent stem cells from patients with type 1 diabetes

(2009) R. Maehr et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Generation of mouse-induced pluripotent stem cells by transient expression of a single nonviral polycistronic vector

(2009) F. Gonzalez et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disease-Specific Induced Pluripotent Stem Cells

(2008) In-Hyun Park et al.   CELL

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

Phenotype, diagnosis, and treatment of Gaucher's disease

(2008) Gregory A Grabowski   LANCET

Induced pluripotent stem cells from a spinal muscular atrophy patient

(2008) Allison D. Ebert et al.   NATURE

Efficient derivation of functional dopaminergic neurons from human embryonic stem cells on a large scale

(2008) Myung-Soo Cho et al.   Nature Protocols

Highly efficient and large-scale generation of functional dopamine neurons from human embryonic stem cells

(2008) M. S. Cho et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Induced Pluripotent Stem Cells Generated from Patients with ALS Can Be Differentiated into Motor Neurons

(2008) J. T. Dimos et al.   SCIENCE