Myelin lesions associated with lysosomal and peroxisomal disorders

Adrenoleukodystrophy: recent advances in treatment and disease etiology

(2011) Victor A Drover   Clinical Lipidology

Peroxisomes, lipid metabolism and lipotoxicity

(2010) R.J.A. Wanders et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Newborn Screening of Lysosomal Storage Disorders

(2010) D. Marsden et al.   CLINICAL CHEMISTRY

The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy

(2010) Rob Ofman et al.   EMBO Molecular Medicine

Valproic acid induces antioxidant effects in X-linked adrenoleukodystrophy

(2010) Stéphane Fourcade et al.   HUMAN MOLECULAR GENETICS

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

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

Insulin-like growth factor-1 and neurotrophin-3 gene therapy prevents motor decline in an X-linked adrenoleukodystrophy mouse model

(2009) Roberto Mastroeni et al.   ANNALS OF NEUROLOGY

Pathogenesis of leukodystrophy for Krabbe disease: Molecular mechanism and clinical treatment

(2009) Norio Sakai   BRAIN & DEVELOPMENT

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

(2009) Paola Luzi et al.   BRAIN RESEARCH

Oligodendroglial impact on axonal function and survival – a hypothesis

(2009) Celia Michèle Kassmann et al.   CURRENT OPINION IN NEUROLOGY

Development and maturation of invariant NKT cells in the presence of lysosomal engulfment

(2009) Tiziana Plati et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Site-specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines

(2009) Stephan Schröder et al.   GLYCOBIOLOGY

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

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

Characterization of new arylsulfatase A gene mutations reinforces genotype-phenotype correlation in metachromatic leukodystrophy

(2009) Martina Cesani et al.   HUMAN MUTATION

Global diffuse distribution in the brain and efficient gene delivery to the dorsal root ganglia by intrathecal injection of adeno-associated viral vector serotype 1

(2009) Naotaka Iwamoto et al.   JOURNAL OF GENE MEDICINE

Pathogenic cascades in lysosomal disease—Why so complex?

(2009) S. U. Walkley   JOURNAL OF INHERITED METABOLIC DISEASE

Cellular approaches to central nervous system remyelination stimulation: thyroid hormone to promote myelin repair via endogenous stem and precursor cells

(2009) Laura Calzà et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample

(2009) Alexander Semmler et al.   JOURNAL OF NEUROLOGY

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

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

Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells

(2009) Michelina Strazza et al.   MOLECULAR GENETICS AND METABOLISM

Newborn screening for X-linked adrenoleukodystrophy (X-ALD): Validation of a combined liquid chromatography–tandem mass spectrometric (LC–MS/MS) method

(2009) Walter C. Hubbard et al.   MOLECULAR GENETICS AND METABOLISM

Enzyme Replacement Improves Ataxic Gait and Central Nervous System Histopathology in a Mouse Model of Metachromatic Leukodystrophy

(2009) Ulrich Matzner et al.   MOLECULAR THERAPY

Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function

(2009) Paul Saftig et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Peroxisomes, Myelination, and Axonal Integrity in the CNS

(2009) Myriam Baes et al.   NEUROSCIENTIST

Newborn Screening for Krabbe Disease: the New York State Model

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

Hematopoietic Stem Cell Gene Therapy with a Lentiviral Vector in X-Linked Adrenoleukodystrophy

(2009) N. Cartier et al.   SCIENCE

Invariant natural killer T cells: innate-like T cells with potent immunomodulatory activities

(2009) L. Wu et al.   TISSUE ANTIGENS

Organelle interplay in peroxisomal disorders

(2009) Sven Thoms et al.   TRENDS IN MOLECULAR MEDICINE

A key role for the peroxisomal ABCD2 transporter in fatty acid homeostasis

(2008) Stéphane Fourcade et al.   AMERICAN JOURNAL OF PHYSIOLOGY-ENDOCRINOLOGY AND METABOLISM

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann–Pick C1 disease — Lysosomal storage disorders caused by defects of non-lysosomal proteins

(2008) Thomas Dierks et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Secondary lipid accumulation in lysosomal disease

(2008) Steven U. Walkley et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Neuronal ceroid lipofuscinoses

(2008) Anu Jalanko et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Lysosomal disorders: From storage to cellular damage

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

Mannose 6-phosphate receptor-dependent endocytosis of lysosomal enzymes is increased in sulfatide-storing kidney cells

(2008) Diana Klein et al.   BIOLOGICAL CHEMISTRY

Emerging trends in transplantation of inherited metabolic diseases

(2008) V K Prasad et al.   BONE MARROW TRANSPLANTATION

Metachromatic leukodystrophy: an overview of current and prospective treatments

(2008) A Biffi et al.   BONE MARROW TRANSPLANTATION

Sustained neurological improvement following reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation for late-onset Krabbe disease

(2008) Z Y Lim et al.   BONE MARROW TRANSPLANTATION

Plasmalogens participate in very-long-chain fatty acid-induced pathology

(2008) P. Brites et al.   BRAIN

Autophagy in the Pathogenesis of Disease

(2008) Beth Levine 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

Therapy of X-linked adrenoleukodystrophy

(2008) Alexander Semmler et al.   Expert Review of Neurotherapeutics

The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters

(2008) Carlo W. T. van Roermund et al.   FASEB JOURNAL

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice

(2008) Y. Sun et al.   HUMAN MOLECULAR GENETICS

Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy

(2008) S. Fourcade et al.   HUMAN MOLECULAR GENETICS

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

(2008) Shailendra Giri et al.   JOURNAL OF NEUROCHEMISTRY

Absence of Functional Peroxisomes from Mouse CNS Causes Dysmyelination and Axon Degeneration

(2008) L. Hulshagen et al.   JOURNAL OF NEUROSCIENCE

Enhanced production of nitric oxide, reactive oxygen species, and pro-inflammatory cytokines in very long chain saturated fatty acid-accumulated macrophages

(2008) Naotake Yanagisawa et al.   Lipids in Health and Disease

In vitro correction of ARSA deficiency in human skin fibroblasts from Metachromatic Leukodystrophy patients after treatment with microencapsulated recombinant cells

(2008) Valeska Lizzi Lagranha et al.   METABOLIC BRAIN DISEASE