Perspective on innovative therapies for globoid cell leukodystrophy

Current status of treating neurodegenerative disease with induced pluripotent stem cells

(2016) A. E. Pen et al.   ACTA NEUROLOGICA SCANDINAVICA

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

Newborn screening for Krabbe disease in New York State: the first eight years’ experience

(2016) Joseph J. Orsini et al.   GENETICS IN MEDICINE

Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity

(2016) D. Shin et al.   JOURNAL OF NEUROSCIENCE

Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial

(2016) Maria Sessa et al.   LANCET

Brain angioarchitecture and intussusceptive microvascular growth in a murine model of Krabbe disease

(2015) Arianna Giacomini et al.   ANGIOGENESIS

Lysosomal Storage Diseases: From Pathophysiology to Therapy

(2015) Giancarlo Parenti et al.   Annual Review of Medicine

Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy

(2015) Frank Matthes et al.   EXPERIMENTAL NEUROLOGY

History, genetic, and recent advances on Krabbe disease

(2015) Adriana Carol Eleonora Graziano et al.   GENE

Cellular Innate Immunity and Restriction of Viral Infection: Implications for Lentiviral Gene Therapy in Human Hematopoietic Cells

(2015) Anna Kajaste-Rudnitski et al.   HUMAN GENE THERAPY

Combined gene/cell therapies provide long-term and pervasive rescue of multiple pathological symptoms in a murine model of globoid cell leukodystrophy

(2015) A. Ricca et al.   HUMAN MOLECULAR GENETICS

Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations

(2015) Mohammad Arif Hossain et al.   JOURNAL OF HUMAN GENETICS

Mechanism of Neuromuscular Dysfunction in Krabbe Disease

(2015) L. Cantuti-Castelvetri et al.   JOURNAL OF NEUROSCIENCE

Mechanism-Based Combination Treatment Dramatically Increases Therapeutic Efficacy in Murine Globoid Cell Leukodystrophy

(2015) J. A. Hawkins-Salsbury et al.   JOURNAL OF NEUROSCIENCE

A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies

(2015) Sumit Parikh et al.   MOLECULAR GENETICS AND METABOLISM

Gene therapy returns to centre stage

(2015) Luigi Naldini   NATURE

Ethical and Policy Issues in Newborn Screening of Children for Neurologic and Developmental Disorders

(2015) Lainie Friedman Ross   PEDIATRIC CLINICS OF NORTH AMERICA

AAV gene transfer delays disease onset in a TPP1-deficient canine model of the late infantile form of Batten disease

(2015) Martin L. Katz et al.   Science Translational Medicine

Liver-directed lentiviral gene therapy in a dog model of hemophilia B

(2015) Alessio Cantore et al.   Science Translational Medicine

Azasugar inhibitors as pharmacological chaperones for Krabbe disease

(2015) Chris H. Hill et al.   Chemical Science

Regional differences in fiber tractography predict neurodevelopmental outcomes in neonates with infantile Krabbe disease

(2015) A. Gupta et al.   NeuroImage-Clinical

Lysosomal storage diseases as disorders of autophagy

(2014) Carmine Settembre et al.   Autophagy

Intracerebral Administration of Adeno-Associated Viral Vector Serotype rh.10 Carrying Human SGSH and SUMF1 cDNAs in Children with Mucopolysaccharidosis Type IIIA Disease: Results of a Phase I/II Trial

(2014) Marc Tardieu et al.   HUMAN GENE THERAPY

Therapeutic benefit of lentiviral-mediated neonatal intracerebral gene therapy in a mouse model of globoid cell leukodystrophy

(2014) A. Lattanzi et al.   HUMAN MOLECULAR GENETICS

Neuronal inclusions of α-synuclein contribute to the pathogenesis of Krabbe disease

(2014) Benjamin R Smith et al.   JOURNAL OF PATHOLOGY

Long-term safety and tolerability of ProSavin, a lentiviral vector-based gene therapy for Parkinson's disease: a dose escalation, open-label, phase 1/2 trial

(2014) Stéphane Palfi et al.   LANCET

Sphingolipid lysosomal storage disorders

(2014) Frances M. Platt   NATURE

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

Experimental Therapies in the Murine Model of Globoid Cell Leukodystrophy

(2014) Yedda Li et al.   PEDIATRIC NEUROLOGY

Role of extracellular calcium and mitochondrial oxygen species in psychosine-induced oligodendrocyte cell death

(2014) V Voccoli et al.   Cell Death & Disease

Inhibition of angiogenesis by β-galactosylceramidase deficiency in globoid cell leukodystrophy

(2013) Mirella Belleri et al.   BRAIN

Role of endogenous psychosine accumulation in oligodendrocyte differentiation and survival: Implication for Krabbe disease

(2013) Je-Seong Won et al.   BRAIN RESEARCH

Newborn screening for lysosomal storage disorders and other neuronopathic conditions

(2013) Dietrich Matern et al.   Developmental Disabilities Research Reviews

Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

(2013) Carmine Spampanato et al.   EMBO Molecular Medicine

Neuro-immune interactions of neural stem cell transplants: From animal disease models to human trials

(2013) Elena Giusto et al.   EXPERIMENTAL NEUROLOGY

MMP-3 mediates psychosine-induced globoid cell formation: Implications for leukodystrophy pathology

(2013) Kumiko Ijichi et al.   GLIA

Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease

(2013) Gregory B. Potter et al.   HUMAN MOLECULAR GENETICS

Region- and Age-Dependent Alterations of Glial-Neuronal Metabolic Interactions Correlate with CNS Pathology in a Mouse Model of Globoid Cell Leukodystrophy

(2013) Tore Wergeland Meisingset et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

The Sphingolipid Psychosine Inhibits Fast Axonal Transport in Krabbe Disease by Activation of GSK3  and Deregulation of Molecular Motors

(2013) L. Cantuti Castelvetri et al.   JOURNAL OF NEUROSCIENCE

Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis

(2013) Nathan R. Selden et al.   Journal of Neurosurgery-Pediatrics

Lyso-sphingomyelin is elevated in dried blood spots of Niemann–Pick B patients

(2013) Wei-Lien Chuang et al.   MOLECULAR GENETICS AND METABOLISM

Signals from the lysosome: a control centre for cellular clearance and energy metabolism

(2013) Carmine Settembre et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Structural snapshots illustrate the catalytic cycle of  -galactocerebrosidase, the defective enzyme in Krabbe disease

(2013) C. H. Hill et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy

(2013) A. Biffi et al.   SCIENCE

HIV Tat Domain Improves Cross-correction of Human Galactocerebrosidase in a Gene- and Flanking Sequence-dependent Manner

(2013) Xing-Li Meng et al.   Molecular Therapy-Nucleic Acids

Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases

(2012) Rosella Tomanin et al.   ACTA PAEDIATRICA

Gene, Stem Cell, and Future Therapies for Orphan Diseases

(2012) M Ian Phillips   CLINICAL PHARMACOLOGY & THERAPEUTICS

Oxidative stress as a therapeutic target in globoid cell leukodystrophy

(2012) Jacqueline A. Hawkins-Salsbury et al.   EXPERIMENTAL NEUROLOGY

The advent of AAV9 expands applications for brain and spinal cord gene delivery

(2012) Robert D Dayton et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Prevalence and pharmacological modulation of humoral immunity to AAV vectors in gene transfer to synovial tissue

(2012) F Mingozzi et al.   GENE THERAPY

Correction of Brain Oligodendrocytes by AAVrh.10 Intracerebral Gene Therapy in Metachromatic Leukodystrophy Mice

(2012) Françoise Piguet et al.   HUMAN GENE THERAPY

The galactocerebrosidase enzyme contributes to maintain a functional neurogenic niche during early post-natal CNS development

(2012) Sara Santambrogio et al.   HUMAN MOLECULAR GENETICS

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

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

Bone marrow transplantation increases efficacy of central nervous system-directed enzyme replacement therapy in the murine model of globoid cell leukodystrophy

(2012) Elizabeth Y. Qin et al.   MOLECULAR GENETICS AND METABOLISM

Challenges in Vector and Trial Design Using Retroviral Vectors for Long-Term Gene Correction in Hematopoietic Stem Cell Gene Therapy

(2012) Jacqueline Corrigan-Curay et al.   MOLECULAR THERAPY

Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease

(2012) Mohammad A Rafi et al.   MOLECULAR THERAPY

Child Neurology: Krabbe disease: A potentially treatable white matter disorder

(2012) J. Gelinas et al.   NEUROLOGY

Brain conditioning is instrumental for successful microglia reconstitution following hematopoietic stem cell transplantation

(2012) A. Capotondo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Long-Term Follow-Up After Gene Therapy for Canavan Disease

(2012) P. Leone et al.   Science Translational Medicine

Exploiting microRNA regulation for genetic engineering

(2012) B. Gentner et al.   TISSUE ANTIGENS

Bone Marrow Transplantation Alters the Tremor Phenotype in the Murine Model of Globoid-Cell Leukodystrophy

(2012) Adarsh S. Reddy et al.   Journal of Clinical Medicine

Axonopathy is a compounding factor in the pathogenesis of Krabbe disease

(2011) Ludovico Cantuti Castelvetri et al.   ACTA NEUROPATHOLOGICA

Peripheral Neuropathy in the Twitcher Mouse Involves the Activation of Axonal Caspase 3

(2011) Benjamin Smith et al.   ASN Neuro

Lentiviral vector common integration sites in preclinical models and a clinical trial reflect a benign integration bias and not oncogenic selection

(2011) A. Biffi et al.   BLOOD

Sphingolipid and Glycosphingolipid Metabolic Pathways in the Era of Sphingolipidomics

(2011) Alfred H. Merrill   CHEMICAL REVIEWS

Maintenance of a functional hematopoietic stem cell niche through galactocerebrosidase and other enzymes

(2011) Ilaria Visigalli et al.   CURRENT OPINION IN HEMATOLOGY

Transcriptional Activation of Lysosomal Exocytosis Promotes Cellular Clearance

(2011) Diego L. Medina et al.   DEVELOPMENTAL CELL

Gene therapy for leukodystrophies

(2011) A. Biffi et al.   HUMAN MOLECULAR GENETICS

Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts?

(2011) J. A. Hawkins-Salsbury et al.   HUMAN MOLECULAR GENETICS

Bone Marrow Transplantation Augments the Effect of Brain- and Spinal Cord-Directed Adeno-Associated Virus 2/5 Gene Therapy by Altering Inflammation in the Murine Model of Globoid-Cell Leukodystrophy

(2011) A. S. Reddy et al.   JOURNAL OF NEUROSCIENCE

Therapeutic in vivo gene transfer for genetic disease using AAV: progress and challenges

(2011) Federico Mingozzi et al.   NATURE REVIEWS GENETICS

Insights into Krabbe disease from structures of galactocerebrosidase

(2011) J. E. Deane et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2011) Margherita Neri et al.   STEM CELLS

Suppression of autophagy permits successful enzyme replacement therapy in a lysosomal storage disorder—murine Pompe disease

(2010) Nina Raben et al.   Autophagy

The galactocerebrosidase enzyme contributes to the maintenance of a functional hematopoietic stem cell niche

(2010) I. Visigalli et al.   BLOOD

Weighing the evidence for newborn screening for early-infantile Krabbe disease

(2010) Alex R Kemper et al.   GENETICS IN MEDICINE

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

Clinical aspects of neuropathic lysosomal storage disorders

(2010) Laura Bannach Jardim et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Lessons learnt from animal models: pathophysiology of neuropathic lysosomal storage disorders

(2010) Kim M. Hemsley et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Multi-system disorders of glycosphingolipid and ganglioside metabolism

(2010) You-Hai Xu et al.   JOURNAL OF LIPID RESEARCH

Molecular Characterization of Mutations That Cause Globoid Cell Leukodystrophy and Pharmacological Rescue Using Small Molecule Chemical Chaperones

(2010) W. C. Lee et al.   JOURNAL OF NEUROSCIENCE

Persistence of psychosine in brain lipid rafts is a limiting factor in the therapeutic recovery of a mouse model for Krabbe disease

(2010) A.B. White et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Mesenchymal Lineage Stem Cells Have Pronounced Anti-Inflammatory Effects in the Twitcher Mouse Model of Krabbe's Disease

(2010) Cynthia B. Ripoll et al.   STEM CELLS

Diffusion Tensor Imaging Detects Abnormalities in the Corticospinal Tracts of Neonates with Infantile Krabbe Disease

(2009) M.L. Escolar et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Human neural stem cells ameliorate autoimmune encephalomyelitis in non-human primates

(2009) Stefano Pluchino et al.   ANNALS OF NEUROLOGY

Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy

(2009) Paola Luzi et al.   BRAIN RESEARCH

The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York

(2009) Patricia K Duffner et al.   GENETICS IN MEDICINE

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

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

The genotoxic potential of retroviral vectors is strongly modulated by vector design and integration site selection in a mouse model of HSC gene therapy

(2009) Eugenio Montini et al.   JOURNAL OF CLINICAL INVESTIGATION

Combined hematopoietic and lentiviral gene-transfer therapies in newborn Twitcher mice reveal contemporaneous neurodegeneration and demyelination in Krabbe disease

(2009) F. Galbiati et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Newborn Screening for Krabbe Disease: the New York State Model

(2009) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

Psychosine-induced alterations in peroxisomes of twitcher mouse liver

(2008) Miguel Agustin Contreras et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Lysosomal disorders: From storage to cellular damage

(2008) Andrea Ballabio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

The pathogenesis of Niemann–Pick type C disease: a role for autophagy?

(2008) Chris D. Pacheco et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

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

The role of AMPK in psychosine mediated effects on oligodendrocytes and astrocytes: implication for Krabbe Disease

(2008) Shailendra Giri et al.   JOURNAL OF NEUROCHEMISTRY

Cellular uptake and lysosomal delivery of galactocerebrosidase tagged with the HIV Tat protein transduction domain

(2007) Xian-Yang Zhang et al.   JOURNAL OF NEUROCHEMISTRY