Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy

Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe‐affected non‐human primates by intracerebral lentiviral gene therapy

(2016) Vasco Meneghini et al.   EMBO Molecular Medicine

Sulfatide species with various fatty acid chains in oligodendrocytes at different developmental stages determined by imaging mass spectrometry

(2016) Yukie Hirahara et al.   JOURNAL OF NEUROCHEMISTRY

Human glia can both induce and rescue aspects of disease phenotype in Huntington disease

(2016) Abdellatif Benraiss et al.   Nature Communications

Generation of Human Induced Pluripotent Stem Cell-Derived Bona Fide Neural Stem Cells for Ex Vivo Gene Therapy of Metachromatic Leukodystrophy

(2016) Vasco Meneghini et al.   Stem Cells Translational Medicine

Metachromatic leukodystrophy: Disease spectrum and approaches for treatment

(2015) Diane F. van Rappard et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Glia in mammalian development and disease

(2015) J. Bradley Zuchero et al.   DEVELOPMENT

Gene therapy for lysosomal storage disorders: a good start

(2015) Alessandra Biffi   HUMAN MOLECULAR GENETICS

Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells

(2015) Ola Awad et al.   HUMAN MOLECULAR GENETICS

Dysfunction of Platelet-derived Growth Factor Receptor α (PDGFRα) Represses the Production of Oligodendrocytes from Arylsulfatase A-deficient Multipotential Neural Precursor Cells

(2015) Katarzyna C. Pituch et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation

(2015) Mi-Young Son et al.   JOURNAL OF PATHOLOGY

Arylsulfatase A Overexpressing Human iPSC-derived Neural Cells Reduce CNS Sulfatide Storage in a Mouse Model of Metachromatic Leukodystrophy

(2015) Jonas Doerr et al.   MOLECULAR THERAPY

The Role of 3-O-Sulfogalactosylceramide, Sulfatide, in the Lateral Organization of Myelin Membrane

(2015) Sara Grassi et al.   NEUROCHEMICAL RESEARCH

Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks

(2015) Isaac Canals et al.   Stem Cell Reports

Intracerebral Gene Therapy Using AAVrh.10-hARSA Recombinant Vector to Treat Patients with Early-Onset Forms of Metachromatic Leukodystrophy: Preclinical Feasibility and Safety Assessments in Nonhuman Primates

(2015) Michel Zerah et al.   Human Gene Therapy Clinical Development

Properties of Neurons Derived from Induced Pluripotent Stem Cells of Gaucher Disease Type 2 Patient Fibroblasts: Potential Role in Neuropathology

(2015) Ying Sun et al.   PLoS One

Lysosomal storage diseases and the heat shock response: convergences and therapeutic opportunities

(2014) Linda Ingemann et al.   JOURNAL OF LIPID RESEARCH

Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease

(2014) Carla Andreia Teixeira et al.   NEUROBIOLOGY OF DISEASE

Efficient Generation of Myelinating Oligodendrocytes from Primary Progressive Multiple Sclerosis Patients by Induced Pluripotent Stem Cells

(2014) Panagiotis Douvaras et al.   Stem Cell Reports

Genetic and Chemical Correction of Cholesterol Accumulation and Impaired Autophagy in Hepatic and Neural Cells Derived from Niemann-Pick Type C Patient-Specific iPS Cells

(2014) Dorothea Maetzel et al.   Stem Cell Reports

Involvement of ER Stress in Dysmyelination of Pelizaeus-Merzbacher Disease with PLP1 Missense Mutations Shown by iPSC-Derived Oligodendrocytes

(2014) Yuko Numasawa-Kuroiwa et al.   Stem Cell Reports

Comparative Efficacy and Safety of Multiple Routes of Direct CNS Administration of Adeno-Associated Virus Gene Transfer Vector Serotype rh.10 Expressing the Human Arylsulfatase A cDNA to Nonhuman Primates

(2014) Jonathan B. Rosenberg et al.   Human Gene Therapy Clinical Development

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

Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks

(2013) Michaela Trilck 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

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

(2012) Frances M. Platt et al.   JOURNAL OF CELL BIOLOGY

Role of sulfatide in normal and pathological cells and tissues

(2012) Tadanobu Takahashi et al.   JOURNAL OF LIPID RESEARCH

Induced pluripotent stem cells: the new patient?

(2012) Milena Bellin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Psychosine induces the dephosphorylation of neurofilaments by deregulation of PP1 and PP2A phosphatases

(2012) Ludovico Cantuti-Castelvetri et al.   NEUROBIOLOGY OF DISEASE

Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy

(2012) S. Groeschel et al.   NEUROLOGY

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

iPSC Disease Modeling

(2012) F. Soldner et al.   SCIENCE

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

(2011) Thomas Lemonnier et al.   HUMAN MOLECULAR GENETICS

The Lipid Sulfatide Is a Novel Myelin-Associated Inhibitor of CNS Axon Outgrowth

(2011) A. M. Winzeler et al.   JOURNAL OF NEUROSCIENCE

Neural Stem Cell Gene Therapy Ameliorates Pathology and Function in a Mouse Model of Globoid Cell Leukodystrophy

(2011) Margherita Neri 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

Widespread enzymatic correction of CNS tissues by a single intracerebral injection of therapeutic lentiviral vector in leukodystrophy mouse models

(2010) Annalisa Lattanzi et al.   HUMAN MOLECULAR GENETICS

Neural stem cell systems: physiological players or in vitro entities?

(2010) Luciano Conti et al.   NATURE REVIEWS NEUROSCIENCE

Metachromatic Leukodystrophy – An Update

(2010) V. Gieselmann et al.   NEUROPEDIATRICS

Efficient intracerebral delivery of AAV5 vector encoding human ARSA in non-human primate

(2009) M.-A. Colle et al.   HUMAN MOLECULAR GENETICS

Constitutive Reactive Oxygen Species Generation from Autophagosome/Lysosome in Neuronal Oxidative Toxicity

(2009) Chisato Kubota et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Elevated sulfatide levels in neurons cause lethal audiogenic seizures in mice

(2009) Rebekka van Zyl et al.   JOURNAL OF NEUROCHEMISTRY

Adult CST-null mice maintain an increased number of oligodendrocytes

(2009) S.M. Shroff et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling

(2009) Stuart M Chambers et al.   NATURE BIOTECHNOLOGY

Disease-Specific Induced Pluripotent Stem Cells

(2008) In-Hyun Park et al.   CELL

Multipotential Neural Precursors Transplanted into the Metachromatic Leukodystrophy Brain Fail to Generate Oligodendrocytes but Contribute to Limit Brain Dysfunction

(2008) M.I. Givogri et al.   DEVELOPMENTAL NEUROSCIENCE

Principles of bioactive lipid signalling: lessons from sphingolipids

(2008) Yusuf A. Hannun et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY