Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses

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

(2016) Yan Long et al.   Stem Cells Translational Medicine

Review of miglustat for clinical management in Gaucher disease type 1

(2016) Can Ficicioglu   Therapeutics and Clinical Risk Management

The relevance of the storage of subunit c of ATP synthase in different forms and models of Batten disease (NCLs)

(2015) David N. Palmer   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway

(2013) Xenia Lojewski et al.   HUMAN MOLECULAR GENETICS

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

The neuronal ceroid-lipofuscinoses: A historical introduction

(2012) Matti Haltia et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

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

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

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

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

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

Therapeutic Approaches to the Challenge of Neuronal Ceroid Lipofuscinoses

(2011) R. Kohan et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

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

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses

(2011) Maria Kousi et al.   HUMAN MUTATION

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

Towards understanding the neuronal ceroid lipofuscinoses

(2009) Alfried Kohlschütter et al.   BRAIN & DEVELOPMENT

Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis

(2009) Jui-Yun Lu et al.   MOLECULAR GENETICS AND METABOLISM

Treatment of Late Infantile Neuronal Ceroid Lipofuscinosis by CNS Administration of a Serotype 2 Adeno-Associated Virus Expressing CLN2 cDNA

(2008) Stefan Worgall et al.   HUMAN GENE THERAPY