Related references
Note: Only part of the references are listed.Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders
Kenneth J. Valenzano et al.
ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES (2011)
Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome)
Jakub Tolar et al.
BLOOD (2011)
Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies
Joseph R. Mazzulli et al.
CELL (2011)
Pharmacological chaperone therapy for Gaucher disease: a patent review
Juan M. Benito et al.
EXPERT OPINION ON THERAPEUTIC PATENTS (2011)
Generation of dendritic cells and macrophages from human induced pluripotent stem cells aiming at cell therapy
S. Senju et al.
GENE THERAPY (2011)
Human Pompe disease-induced pluripotent stem cells for pathogenesis modeling, drug testing and disease marker identification
Hsiang-Po Huang et al.
HUMAN MOLECULAR GENETICS (2011)
Generation of HIV-1 Resistant and Functional Macrophages From Hematopoietic Stem Cell-derived Induced Pluripotent Stem Cells
Amal Kambal et al.
MOLECULAR THERAPY (2011)
Diseases in a dish: modeling human genetic disorders using induced pluripotent cells
Gustavo Tiscornia et al.
NATURE MEDICINE (2011)
Hematopoietic differentiation and production of mature myeloid cells from human pluripotent stem cells
Kyung-Dal Choi et al.
NATURE PROTOCOLS (2011)
Bicyclic (galacto)nojirimycin analogues as glycosidase inhibitors: Effect of structural modifications in their pharmacological chaperone potential towards beta-glucocerebrosidase
Matilde Aguilar-Moncayo et al.
ORGANIC & BIOMOLECULAR CHEMISTRY (2011)
Brief Report: Efficient Generation of Hematopoietic Precursors and Progenitors from Human Pluripotent Stem Cell Lines
Niels-Bjarne Woods et al.
STEM CELLS (2011)
Differential Modeling of Fragile X Syndrome by Human Embryonic Stem Cells and Induced Pluripotent Stem Cells
Achia Urbach et al.
CELL STEM CELL (2010)
A Fluorescent sp2-Iminosugar With Pharmacological Chaperone Activity for Gaucher Disease: Synthesis and Intracellular Distribution Studies
Zhuo Luan et al.
CHEMBIOCHEM (2010)
Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome
Xonia Carvajal-Vergara et al.
NATURE (2010)
Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients
Suneet Agarwal et al.
NATURE (2010)
Epigenetic memory in induced pluripotent stem cells
K. Kim et al.
NATURE (2010)
Cell type of origin influences the molecular and functional properties of mouse induced pluripotent stem cells
Jose M. Polo et al.
NATURE BIOTECHNOLOGY (2010)
Velaglucerase alfa
Johannes M. F. G. Aerts et al.
NATURE REVIEWS DRUG DISCOVERY (2010)
Patient-Specific Induced Pluripotent Stem-Cell Models for Long-QT Syndrome.
Alessandra Moretti et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Persistent Donor Cell Gene Expression among Human Induced Pluripotent Stem Cells Contributes to Differences with Human Embryonic Stem Cells
Zhumur Ghosh et al.
PLOS ONE (2010)
Neural differentiation of human induced pluripotent stem cells follows developmental principles but with variable potency
Bao-Yang Hu et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
Pramod K. Mistry et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2010)
Generation of Induced Pluripotent Stem Cells from Human Cord Blood Using OCT4 and SOX2
Alessandra Giorgetti et al.
CELL STEM CELL (2009)
Chaperone Activity of Bicyclic Nojirimycin Analogues for Gaucher Mutations in Comparison with N-(n-nonyl)-Deoxynojirimycin
Zhuo Luan et al.
CHEMBIOCHEM (2009)
Functional Cardiomyocytes Derived From Human Induced Pluripotent Stem Cells
Jianhua Zhang et al.
CIRCULATION RESEARCH (2009)
Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics
Giancarlo Parenti
EMBO MOLECULAR MEDICINE (2009)
Induced pluripotent stem cells from a spinal muscular atrophy patient
Allison D. Ebert et al.
NATURE (2009)
Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs
Gabsang Lee et al.
NATURE (2009)
Disease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells
Angel Raya et al.
NATURE (2009)
Differential methylation of tissue- and cancer-specific CpG island shores distinguishes human induced pluripotent stem cells, embryonic stem cells and fibroblasts
Akiko Doi et al.
NATURE GENETICS (2009)
A Plant-Derived Recombinant Human Glucocerebrosidase Enzyme-A Preclinical and Phase I Investigation
David Aviezer et al.
PLOS ONE (2009)
Transcriptional Signature and Memory Retention of Human-Induced Pluripotent Stem Cells
Maria C. N. Marchetto et al.
PLOS ONE (2009)
Generation of pluripotent stem cells from patients with type 1 diabetes
Rene Maehr et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Generation of mouse-induced pluripotent stem cells by transient expression of a single nonviral polycistronic vector
Federico Gonzalez et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2009)
Disease-specific induced pluripotent stem cells
In-Hyun Park et al.
CELL (2008)
Homogeneous monocytes and macrophages from human embryonic stem cells following coculture-free differentiation in M-CSF and IL-3
Karl R. Karlsson et al.
EXPERIMENTAL HEMATOLOGY (2008)
Lysosomal storage disease 1 - Phenotype, diagnosis, and treatment of Gaucher's disease
Gregory A. Grabowski
LANCET (2008)
Efficient derivation of functional dopaminergic neurons from human embryonic stem cells on a large scale
Myung-Soo Cho et al.
NATURE PROTOCOLS (2008)
Highly efficient and large-scale generation of functional dopamine neurons from human embryonic stem cells
Myung Soo Cho et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons
John T. Dimos et al.
SCIENCE (2008)
Reprogramming of human somatic cells to pluripotency with defined factors
In-Hyun Park et al.
NATURE (2008)
Induction of pluripotent stem cells from adult human fibroblasts by defined factors
Kazutoshi Takahashi et al.
CELL (2007)
Murine models of acute neuronopathic Gaucher disease
Ida Berglin Enquist et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Pharmacologic chaperoning as a strategy to treat Gaucher disease
Zhanqian Yu et al.
FEBS JOURNAL (2007)
In vitro reprogramming of fibroblasts into a pluripotent ES-cell-like state
Marius Wernig et al.
NATURE (2007)
Targeted delivery of proteins across the blood-brain barrier
Brian J. Spencer et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Effective cell and gene therapy in a murine model of Gaucher disease
Ida Berglin Enquist et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2006)
Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors
Kazutoshi Takahashi et al.
CELL (2006)
Lysosomal storage diseases: Natural history and ethical and economic aspects
Ernest Beutler
MOLECULAR GENETICS AND METABOLISM (2006)
Substrate reduction therapy of glycosphingolipid storage disorders
Johannes M. F. G. Aerts et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles
AR Sawkar et al.
CHEMISTRY & BIOLOGY (2005)
Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses
TD Butters et al.
GLYCOBIOLOGY (2005)
ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity
I Ron et al.
HUMAN MOLECULAR GENETICS (2005)
Gaucher disease: pathological mechanisms and modern management
M Jmoudiak et al.
BRITISH JOURNAL OF HAEMATOLOGY (2005)
Neuropathology provides clues to the pathophysiology of Gaucher disease
KD Wong et al.
MOLECULAR GENETICS AND METABOLISM (2004)
Enzyme replacement in Gaucher disease
E Beutler
PLOS MEDICINE (2004)
Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease
UH Schueler et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2004)
Viable mouse models of acid beta-glucosidase deficiency - The defect in Gaucher disease
YH Xu et al.
AMERICAN JOURNAL OF PATHOLOGY (2003)
Chemical chaperones increase the cellular activity of N370S β-glucosidase:: A therapeutic strategy for Gaucher disease
AR Sawkar et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry
NJ Weinreb et al.
AMERICAN JOURNAL OF MEDICINE (2002)
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy
FM Platt et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2001)
Improvement of neurological symptoms by enzyme replacement therapy for Gaucher disease type IIIb
M Aoki et al.
EUROPEAN JOURNAL OF PEDIATRICS (2001)
Pharmacological chaperones:: a new twist on receptor folding
JP Morello et al.
TRENDS IN PHARMACOLOGICAL SCIENCES (2000)
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
T Cox et al.
LANCET (2000)
Share Paper
