Multi-system disorders of glycosphingolipid and ganglioside metabolism

Neurodegenerative lysosomal disorders: A continuum from development to late age

(2014) Ralph A. Nixon et al.   Autophagy

Inhibition of TLR Activation and Up-Regulation of IL-1R-Associated Kinase-M Expression by Exogenous Gangliosides

(2014) W. Shen et al.   JOURNAL OF IMMUNOLOGY

Sulfatide, A Major Lipid Component of Myelin Sheath, Activates Inflammatory Responses As an Endogenous Stimulator in Brain-Resident Immune Cells

(2014) S.-B. Jeon et al.   JOURNAL OF IMMUNOLOGY

Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants

(2010) Olle Nilsson et al.   CLINICAL GENETICS

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

(2010) Y. Sun et al.   HUMAN MOLECULAR GENETICS

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

(2010) Anke Penno et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Activities of Five Different Sialyltransferases in Fish and Rat Brains

(2010) Bettina Freischütz et al.   JOURNAL OF NEUROCHEMISTRY

Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease

(2010) Emyr Lloyd-Evans et al.   TRAFFIC

New therapies in the management of Niemann-Pick type C disease: clinical utility of miglustat

(2010) Ed Wraith   Therapeutics and Clinical Risk Management

Genomewide association study for onset age in Parkinson disease

(2009) Jeanne C Latourelle et al.   BMC Medical Genetics

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

(2009) A. Rotthier et al.   BRAIN

Cerebellar defects in a mouse model of juvenile neuronal ceroid lipofuscinosis

(2009) Jill M. Weimer et al.   BRAIN RESEARCH

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

(2009) Hyock Joo Kwon et al.   CELL

Roles and regulation of secretory and lysosomal acid sphingomyelinase

(2009) Russell W. Jenkins et al.   CELLULAR SIGNALLING

Niemann-Pick disease Type C: From molecule to clinic

(2009) Ying Tang et al.   CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY

Advances in stem cell research for Amyotrophic Lateral Sclerosis

(2009) Sophia T Papadeas et al.   CURRENT OPINION IN BIOTECHNOLOGY

Fabry disease in children and the effects of enzyme replacement treatment

(2009) Guillem Pintos-Morell et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

Absence of oligodendroglial glucosylceramide synthesis does not result in CNS myelin abnormalities or alter the dysmyelinating phenotype of CGT-deficient mice

(2009) Laleh Saadat et al.   GLIA

Specific saposin C deficiency: CNS impairment and acid  -glucosidase effects in the mouse

(2009) Y. Sun et al.   HUMAN MOLECULAR GENETICS

No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease

(2009) T. Farfel-Becker et al.   HUMAN MOLECULAR GENETICS

Involvement of Acid β-Glucosidase 1 in the Salvage Pathway of Ceramide Formation

(2009) Kazuyuki Kitatani et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Acid β-Glucosidase 1 Counteracts p38δ-dependent Induction of Interleukin-6

(2009) Kazuyuki Kitatani et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pathogenic cascades in lysosomal disease—Why so complex?

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

Substrate deprivation therapy in juvenile Sandhoff disease

(2009) S. B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines

(2009) E. R. Benjamin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Decreased Nitric Oxide Bioavailability in a Mouse Model of Fabry Disease

(2009) L. Shu et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

4. Phase I trial of pyrimethamine to treat LOTS

(2009) Bijan Almassian   MOLECULAR GENETICS AND METABOLISM

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

Pulmonary delivery of recombinant acid sphingomyelinase improves clearance of lysosomal sphingomyelin from the lungs of a murine model of Niemann–Pick disease

(2009) Robin J. Ziegler et al.   MOLECULAR GENETICS AND METABOLISM

Miglustat in patients with Niemann-Pick disease Type C (NP-C): A multicenter observational retrospective cohort study

(2009) M. Pineda 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

Molecular signatures of disease brain endothelia provide new sites for CNS-directed enzyme therapy

(2009) Yong Hong Chen et al.   NATURE MEDICINE

Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1

(2009) David Smith et al.   NEUROBIOLOGY OF DISEASE

Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles

(2009) Stefania Zampieri et al.   NEUROGENETICS

Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring

(2009) Björn Hoffmann   Orphanet Journal of Rare Diseases

Fabry disease

(2009) Raphael Schiffmann   PHARMACOLOGY & THERAPEUTICS

Determination of Cellular Lipids Bound to Human CD1d Molecules

(2009) Daryl Cox et al.   PLoS One

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome

(2009) D. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mice lacking ganglioside GM3 synthase exhibit complete hearing loss due to selective degeneration of the organ of Corti

(2009) M. Yoshikawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Randomized, controlled trial of miglustat in Gaucher's disease type 3

(2008) Raphael Schiffmann et al.   ANNALS OF NEUROLOGY

The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations

(2008) Ozlem Goker-Alpan et al.   ARCHIVES OF NEUROLOGY

Endosomes and lysosomes play distinct roles in sulfatide-induced neuroblastoma apoptosis: potential mechanisms contributing to abnormal sulfatide metabolism in related neuronal diseases

(2008) Youchun Zeng et al.   BIOCHEMICAL JOURNAL

Functions of sphingolipid metabolism in mammals — Lessons from genetic defects

(2008) Frédérique Sabourdy et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

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

Principles of lysosomal membrane degradation

(2008) Heike Schulze et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice

(2008) Ying Sun et al.   BMC NEUROSCIENCE

Metachromatic leukodystrophy: an overview of current and prospective treatments

(2008) A Biffi et al.   BONE MARROW TRANSPLANTATION

Protein scaffolds in MAP kinase signalling

(2008) Matthew D. Brown et al.   CELLULAR SIGNALLING

VASCULAR DYSFUNCTION IN THE α-GALACTOSIDASE A-KNOCKOUT MOUSE IS AN ENDOTHELIAL CELL-, PLASMA MEMBRANE-BASED DEFECT

(2008) James L Park et al.   CLINICAL AND EXPERIMENTAL PHARMACOLOGY AND PHYSIOLOGY

Neuropathology of the acid sphingomyelinase knockout mouse model of Niemann-Pick A disease including structure–function studies associated with cerebellar Purkinje cell degeneration

(2008) Shannon L. Macauley et al.   EXPERIMENTAL NEUROLOGY

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

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

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice

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

The role of glycosphingolipid metabolism in the developing brain

(2008) Robert K. Yu et al.   JOURNAL OF LIPID RESEARCH

Thematic Review Series: Sphingolipids.Biodiversity of sphingoid bases (“sphingosines”) and related amino alcohols

(2008) Sarah T. Pruett et al.   JOURNAL OF LIPID RESEARCH

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

(2008) Shailendra Giri et al.   JOURNAL OF NEUROCHEMISTRY

Accumulation of bis(monoacylglycero)phosphate and gangliosides in mouse models of neuronal ceroid lipofuscinosis

(2008) Sabrina Jabs et al.   JOURNAL OF NEUROCHEMISTRY

Comparative Analysis of Brain Lipids in Mice, Cats, and Humans with Sandhoff Disease

(2008) Rena C. Baek et al.   LIPIDS

Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid β-glucosidase residual activity levels

(2008) You-Hai Xu et al.   MOLECULAR GENETICS AND METABOLISM

Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis

(2008) Elena Elliot-Smith et al.   MOLECULAR GENETICS AND METABOLISM

GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects

(2008) Nicola Brunetti-Pierri et al.   MOLECULAR GENETICS AND METABOLISM

Acidic amino acid tag enhances response to enzyme replacement in mucopolysaccharidosis type VII mice

(2008) Adriana M. Montaño et al.   MOLECULAR GENETICS AND METABOLISM

24 month-treatment with miglustat of three patients with Niemann-Pick disease type C: Follow up using brain spectroscopy

(2008) Damien Galanaud et al.   MOLECULAR GENETICS AND METABOLISM

Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium

(2008) Emyr Lloyd-Evans et al.   NATURE MEDICINE

Neurophysiological, behavioral and morphological abnormalities in the Fabry knockout mice

(2008) L.G. Rodrigues et al.   NEUROBIOLOGY OF DISEASE

Hereditary sensory neuropathy type I

(2008) Michaela Auer-Grumbach   Orphanet Journal of Rare Diseases

Chemically modified  -glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII

(2008) J. H. Grubb et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes

(2008) R. E. Infante et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

(2008) J. M. Aerts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice

(2007) Rena C. Baek et al.   NEUROCHEMISTRY INTERNATIONAL