Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A

A Comparative Study on the Alterations of Endocytic Pathways in Multiple Lysosomal Storage Disorders

(2016) Jeff Rappaport et al.   MOLECULAR PHARMACEUTICS

Review of miglustat for clinical management in Gaucher disease type 1

(2016) Can Ficicioglu   Therapeutics and Clinical Risk Management

Efficacy of 2-Hydroxypropyl-β-cyclodextrin in Niemann–Pick Disease Type C Model Mice and Its Pharmacokinetic Analysis in a Patient with the Disease

(2015) Yuta Tanaka et al.   BIOLOGICAL & PHARMACEUTICAL BULLETIN

Cyclodextrins, Blood–Brain Barrier, and Treatment of Neurological Diseases

(2014) Miklós Vecsernyés et al.   ARCHIVES OF MEDICAL RESEARCH

iPSC Crowdsourcing: A Model for Obtaining Large Panels of Stem Cell Lines for Screening

(2013) Mahendra Rao   Cell Stem Cell

Integrating Human Pluripotent Stem Cells into Drug Development

(2013) Sandra J. Engle et al.   Cell Stem Cell

Morphological features of iPS cells generated from Fabry disease skin fibroblasts using Sendai virus vector (SeVdp)

(2013) Shiho Kawagoe et al.   MOLECULAR GENETICS AND METABOLISM

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

(2013) Huiwen Zhang et al.   Orphanet Journal of Rare Diseases

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

δ-Tocopherol Reduces Lipid Accumulation in Niemann-Pick Type C1 and Wolman Cholesterol Storage Disorders

(2012) Miao Xu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Comparative binding, endocytosis, and biodistribution of antibodies and antibody-coated carriers for targeted delivery of lysosomal enzymes to ICAM-1 versus transferrin receptor

(2012) Jason Papademetriou et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cyclodextrin mediates rapid changes in lipid balance inNpc1−/−mice without carrying cholesterol through the bloodstream

(2012) Anna M. Taylor et al.   JOURNAL OF LIPID RESEARCH

Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients

(2012) C.E.M. Hollak et al.   MOLECULAR GENETICS AND METABOLISM

Effects of cyclodextrin in two patients with Niemann–Pick Type C disease

(2012) Muneaki Matsuo et al.   MOLECULAR GENETICS AND METABOLISM

Merits of Combination Cortical, Subcortical, and Cerebellar Injections for the Treatment of Niemann-Pick Disease Type A

(2012) Jie Bu et al.   MOLECULAR THERAPY

Large-scale screening using familial dysautonomia induced pluripotent stem cells identifies compounds that rescue IKBKAP expression

(2012) Gabsang Lee et al.   NATURE BIOTECHNOLOGY

Passaging and colony expansion of human pluripotent stem cells by enzyme-free dissociation in chemically defined culture conditions

(2012) Jeanette Beers et al.   Nature Protocols

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

Concise Review: The Evolution of human pluripotent stem cell culture: From feeder cells to synthetic coatings

(2012) L.G. Villa-Diaz et al.   STEM CELLS

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

Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells

(2011) Thomas Lemonnier et al.   HUMAN MOLECULAR GENETICS

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

Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice

(2011) Maria Dolores Ledesma et al.   JOURNAL OF NEUROCHEMISTRY

Preclinical Differences of Intravascular AAV9 Delivery to Neurons and Glia: A Comparative Study of Adult Mice and Nonhuman Primates

(2011) Steven J Gray et al.   MOLECULAR THERAPY

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

(2010) J. Tolar et al.   BLOOD

Induced pluripotent stem cells: opportunities as research and development tools in 21st century drug discovery

(2010) Rebecca K Rowntree et al.   Regenerative Medicine