Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease

Endothelial cell dysfunction in globoid cell leukodystrophy

(2016) Mirella Belleri et al.   JOURNAL OF NEUROSCIENCE RESEARCH

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

(2015) Arianna Giacomini et al.   ANGIOGENESIS

Krabbe disease: involvement of connexin43 in the apoptotic effects of sphingolipid psychosine on mouse oligodendrocyte precursors

(2015) A. C. E. Graziano et al.   APOPTOSIS

Enzymes Approved for Human Therapy: Indications, Mechanisms and Adverse Effects

(2015) Brian A. Baldo   BIODRUGS

A low-cost, high-quality new drug discovery process using patient-derived induced pluripotent stem cells

(2015) Shibashish Giri et al.   DRUG DISCOVERY TODAY

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

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

Galactosylsphingosine (psychosine)-induced demyelination is attenuated by sphingosine 1-phosphate signalling

(2015) C. O'Sullivan et al.   JOURNAL OF CELL SCIENCE

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

Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features

(2015) Mohammad A. Rafi et al.   MOLECULAR GENETICS AND METABOLISM

Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice

(2015) Mohammad A Rafi et al.   MOLECULAR THERAPY

Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

(2015) Giancarlo Parenti et al.   MOLECULAR THERAPY

Azasugar inhibitors as pharmacological chaperones for Krabbe disease

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

Transplantation of mouse embryonic stem cell-derived oligodendrocytes in the murine model of globoid cell leukodystrophy

(2015) Xiao Ling Kuai et al.   Stem Cell Research & Therapy

Design of a regulated lentiviral vector for hematopoietic stem cell gene therapy of globoid cell leukodystrophy

(2015) Silvia Ungari et al.   Molecular Therapy-Methods & Clinical Development

Aberrant Production of Tenascin-C in Globoid Cell Leukodystrophy Alters Psychosine-Induced Microglial Functions

(2014) Kumiko I. Claycomb et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Effect of vitamin D3 intake on the onset of disease in a murine model of human Krabbe disease

(2014) Manjeet K. Paintlia et al.   JOURNAL OF NEUROSCIENCE RESEARCH

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

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

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

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

Innate Immune Activation in the Pathogenesis of a Murine Model of Globoid Cell Leukodystrophy

(2013) Eric R. Snook et al.   AMERICAN JOURNAL OF PATHOLOGY

Micromolar changes in lysophosphatidylcholine concentration cause minor effects on mitochondrial permeability but major alterations in function

(2013) Norris I. Hollie et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease

(2013) Wei-Lien Chuang et al.   CLINICA CHIMICA ACTA

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

Psychosine, the cytotoxic sphingolipid that accumulates in globoid cell leukodystrophy, alters membrane architecture

(2013) Jacqueline A. Hawkins-Salsbury et al.   JOURNAL OF LIPID RESEARCH

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

Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease

(2013) Jameson J. Ribbens et al.   MOLECULAR GENETICS AND METABOLISM

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

Detection of the Neurotoxin Psychosine in Samples of Peripheral Blood: Application in Diagnostics and Follow-up of Krabbe Disease

(2012) Hongling Zhu et al.   ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE

Oxidative stress as a therapeutic target in globoid cell leukodystrophy

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

Neurological Diseases in Relation to the Blood–Brain Barrier

(2012) Gary A Rosenberg   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Innate immunity in the central nervous system

(2012) Richard M. Ransohoff et al.   JOURNAL OF CLINICAL INVESTIGATION

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

(2012) Mohammad A Rafi et al.   MOLECULAR THERAPY

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

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

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

Macrophages Counteract Demyelination in a Mouse Model of Globoid Cell Leukodystrophy

(2011) Y. Kondo et al.   JOURNAL OF NEUROSCIENCE

Mapping Infant Brain Myelination with Magnetic Resonance Imaging

(2011) S. C. L. Deoni et al.   JOURNAL OF NEUROSCIENCE

Risk factors in the development of stem cell therapy

(2011) Carla A Herberts et al.   Journal of Translational Medicine

Mannose-6-phosphate pathway: A review on its role in lysosomal function and dysfunction

(2011) Maria Francisca Coutinho et al.   MOLECULAR GENETICS AND METABOLISM

Several rAAV Vectors Efficiently Cross the Blood–brain Barrier and Transduce Neurons and Astrocytes in the Neonatal Mouse Central Nervous System

(2011) Hongwei Zhang et al.   MOLECULAR THERAPY

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

Adult onset Krabbe's leukodystrophy: a report of 2 cases

(2010) M. Turazzini et al.   ACTA NEUROLOGICA SCANDINAVICA

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

(2010) I. Visigalli et al.   BLOOD

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation

(2010) A Fiumara et al.   CLINICAL GENETICS

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease

(2010) Barbara Tappino et al.   HUMAN MUTATION

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

A galactose-free diet enriched in soy isoflavones and antioxidants results in delayed onset of symptoms of Krabbe disease in twitcher mice

(2010) Giovanna Pannuzzo et al.   MOLECULAR GENETICS AND METABOLISM

A Placebo-Controlled Trial of Oral Fingolimod in Relapsing Multiple Sclerosis

(2010) Ludwig Kappos et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identification of Hematopoietic Stem Cell-Specific miRNAs Enables Gene Therapy of Globoid Cell Leukodystrophy

(2010) B. Gentner et al.   Science Translational Medicine

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

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

(2009) Paola Luzi et al.   BRAIN RESEARCH

Psychosine Accumulates in Membrane Microdomains in the Brain of Krabbe Patients, Disrupting the Raft Architecture

(2009) A. B. White et al.   JOURNAL OF NEUROSCIENCE

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

The neurovascular link in health and disease: an update

(2009) Inmaculada Segura et al.   TRENDS IN MOLECULAR MEDICINE

The Nuclear Factor NF- B Pathway in Inflammation

(2009) T. Lawrence   Cold Spring Harbor Perspectives in Biology

Biology of Secretory Phospholipase A2

(2008) Boris B. Boyanovsky et al.   CARDIOVASCULAR DRUGS AND THERAPY

Role of Secretory Phospholipase A2 in CNS Inflammation: Implications in Traumatic Spinal Cord Injury

(2008) W. Titsworth et al.   CNS & Neurological Disorders-Drug Targets

Leukemia inhibitory factor signaling modulates both central nervous system demyelination and myelin repair

(2008) Mark P. Marriott et al.   GLIA

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

(2008) Shailendra Giri et al.   JOURNAL OF NEUROCHEMISTRY

Roles of l-serine and sphingolipid synthesis in brain development and neuronal survival

(2008) Yoshio Hirabayashi et al.   PROGRESS IN LIPID RESEARCH

Cytokines and Myelination in the Central Nervous System

(2008) Thomas Schmitz et al.   TheScientificWorldJOURNAL

Clinical and Immunopathologic Alterations in Rhesus Macaques Affected with Globoid Cell Leukodystrophy

(2007) Juan T. Borda et al.   AMERICAN JOURNAL OF PATHOLOGY

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

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