Pathology and current treatment of neurodegenerative sphingolipidoses (Q37781746)

23 August 2017

Pathology and current treatment of neurodegenerative sphingolipidoses (English)

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23 August 2017

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Matthias Eckhardt

1

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23 August 2017

22 August 2010

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23 August 2017

NeuroMolecular Medicine

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23 August 2017

12

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23 August 2017

4

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23 August 2017

362-382

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https://scigraph.springernature.com/pub.10.1007/s12017-010-8133-7

23 August 2017

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cites work

Rab proteins mediate Golgi transport of caveola-internalized glycosphingolipids and correct lipid trafficking in Niemann-Pick C cells

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

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Autophagy: a lysosomal degradation pathway with a central role in health and disease

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Review of miglustat for clinical management in Gaucher disease type 1.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12017-010-8133-7

Gene therapy for lysosomal storage diseases (LSDs) in large animal models

21 January 2018

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Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease).

21 January 2018

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Secondary lipid accumulation in lysosomal disease

21 January 2018

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The cellular pathways of neuronal autophagy and their implication in neurodegenerative diseases

21 January 2018

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NBR1 and p62 as cargo receptors for selective autophagy of ubiquitinated targets

21 January 2018

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Elevated endosomal cholesterol levels in Niemann-Pick cells inhibit rab4 and perturb membrane recycling

21 January 2018

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12 December 2020

NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin

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12 December 2020

The lysosomal trafficking of sphingolipid activator proteins (SAPs) is mediated by sortilin

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12 December 2020

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

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12 December 2020

Oligodendroglial progenitor cell therapy limits central neurological deficits in mice with metachromatic leukodystrophy.

1 reference

12 December 2020

Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse

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12 December 2020

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

1 reference

12 December 2020

The endoplasmic reticulum and the unfolded protein response

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

Lipid changes in Niemann-Pick disease type C brain: personal experience and review of the literature

1 reference

12 December 2020

Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.

1 reference

12 December 2020

Collodion babies with Gaucher's disease

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12 December 2020

Injection of mouse and human neural stem cells into neonatal Niemann-Pick A model mice.

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12 December 2020

Substrate reduction intervention by L-cycloserine in twitcher mice (globoid cell leukodystrophy) on a B6;CAST/Ei background

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12 December 2020

Accumulation of sulfatide in neuronal and glial cells of arylsulfatase A deficient mice

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12 December 2020

Identification of prosaposin as a neurotrophic factor

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12 December 2020

A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder

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12 December 2020

Structure of acid beta-glucosidase with pharmacological chaperone provides insight into Gaucher disease

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12 December 2020

Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options

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12 December 2020

Neural stem cell transplantation benefits a monogenic neurometabolic disorder during the symptomatic phase of disease

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12 December 2020

Postnatal development of inflammation in a murine model of Niemann-Pick type C disease: immunohistochemical observations of microglia and astroglia

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12 December 2020

Cholesterol modulates membrane traffic along the endocytic pathway in sphingolipid-storage diseases.

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12 December 2020

Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme

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12 December 2020

In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice

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12 December 2020

The myelin protein MAL affects peripheral nerve myelination: a new player influencing p75 neurotrophin receptor expression

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12 December 2020

Neural stem cell implantation extends life in Niemann-Pick C1 mice

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12 December 2020

Tissue culture model of Krabbe's disease: psychosine cytotoxicity in rat oligodendrocyte culture

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12 December 2020

Endocytic trafficking of glycosphingolipids in sphingolipid storage diseases

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12 December 2020

Impairment of protein kinase C activity in twitcher Schwann cells in vitro

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12 December 2020

A new member of the alkaline phosphatase superfamily with a formylglycine nucleophile: structural and kinetic characterisation of a phosphonate monoester hydrolase/phosphodiesterase from Rhizobium leguminosarum

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12 December 2020

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases

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12 December 2020

Marked clinical difference between two sibs affected with juvenile metachromatic leukodystrophy.

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12 December 2020

Variations among cell lines in the synthesis of sphingolipids in de novo and recycling pathways

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12 December 2020

Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases

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12 December 2020

Late endosome motility depends on lipids via the small GTPase Rab7.

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12 December 2020

Galactosylsphingosine (psychosine)-induced expression of cytokine-mediated inducible nitric oxide synthases via AP-1 and C/EBP: implications for Krabbe disease

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12 December 2020

Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene

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12 December 2020

Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling.

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12 December 2020

Insulin-like growth factor type 1 receptor signaling in the cells of oligodendrocyte lineage is required for normal in vivo oligodendrocyte development and myelination

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12 December 2020

Sphingolipidoses in Turkey

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12 December 2020

Inhibition of calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin

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12 December 2020

Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase

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12 December 2020

Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher disease

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12 December 2020

Psychosine accumulates in membrane microdomains in the brain of krabbe patients, disrupting the raft architecture.

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12 December 2020

Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis

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12 December 2020

Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer

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12 December 2020

Basic fibroblast growth factor improves recovery after chemically induced breakdown of myelin-like membranes in pure oligodendrocyte cultures.

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12 December 2020

Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy

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12 December 2020

The autophagy effector Beclin 1: a novel BH3-only protein

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12 December 2020

N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.

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12 December 2020

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

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12 December 2020

Human alpha-iduronidase gene transfer mediated by adeno-associated virus types 1, 2, and 5 in the brain of nonhuman primates: vector diffusion and biodistribution

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12 December 2020

Neural progenitor cell engraftment corrects lysosomal storage throughout the MPS VII mouse brain

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12 December 2020

Enzyme replacement improves ataxic gait and central nervous system histopathology in a mouse model of metachromatic leukodystrophy

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12 December 2020

Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy

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12 December 2020

Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin

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12 December 2020

Screening for lysosomal storage disorders--a clinical perspective

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12 December 2020

Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3.

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12 December 2020

The pathophysiology of mitochondrial cell death

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12 December 2020

Accumulation of lysosphingolipids in tissues from patients with GM1 and GM2 gangliosidoses

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12 December 2020

Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphi

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12 December 2020

Sulfatide storage in visceral organs of arylsulfatase A-deficient mice

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12 December 2020

A direct gene transfer strategy via brain internal capsule reverses the biochemical defect in Tay-Sachs disease

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12 December 2020

Inhibition of cytokinesis by a lipid metabolite, psychosine

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12 December 2020

Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease

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12 December 2020

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

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12 December 2020

Miglustat in adult and juvenile patients with Niemann-Pick disease type C: long-term data from a clinical trial

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12 December 2020

Selective stimulation of caveolar endocytosis by glycosphingolipids and cholesterol

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12 December 2020

Chemical chaperones increase the cellular activity of N370S beta -glucosidase: a therapeutic strategy for Gaucher disease

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12 December 2020

Enhanced calcium release in the acute neuronopathic form of Gaucher disease

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12 December 2020

Endocytosis and signalling: intertwining molecular networks

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12 December 2020

Gaucher disease-associated glucocerebrosidases show mutation-dependent chemical chaperoning profiles

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12 December 2020

Human beta-glucuronidase: in vivo clearance and in vitro uptake by a glycoprotein recognition system on reticuloendothelial cells

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12 December 2020

Correlation among genotype, phenotype, and biochemical markers in Gaucher disease: implications for the prediction of disease severity

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12 December 2020

Protein transduction of Rab9 in Niemann-Pick C cells reduces cholesterol storage.

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12 December 2020

Insulin-like growth factor-1 provides protection against psychosine-induced apoptosis in cultured mouse oligodendrocyte progenitor cells using primarily the PI3K/Akt pathway

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12 December 2020

Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease.

1 reference

12 December 2020

Effective gene therapy in an authentic model of Tay-Sachs-related diseases

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12 December 2020

Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms

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12 December 2020

Neurological evaluation of patients with Gaucher disease diagnosed as type 1

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12 December 2020

Complete correction of enzymatic deficiency and neurochemistry in the GM1-gangliosidosis mouse brain by neonatal adeno-associated virus-mediated gene delivery

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12 December 2020

Effects of psychosine (galactosylsphingosine) on the survival and the fine structure of cultured Schwann cells

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12 December 2020

Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism

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12 December 2020

Neurolysosomal pathology in human prosaposin deficiency suggests essential neurotrophic function of prosaposin

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12 December 2020

Trafficking of lysosomal enzymes in normal and disease states

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12 December 2020

Normal immune development and glucocorticoid-induced thymocyte apoptosis in mice deficient for the T-cell death-associated gene 8 receptor.

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12 December 2020

rMAL is a glycosphingolipid-associated protein of myelin and apical membranes of epithelial cells in kidney and stomach

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12 December 2020

Glucosylceramide modulates membrane traffic along the endocytic pathway

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12 December 2020

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

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12 December 2020

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease

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12 December 2020

Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis

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12 December 2020

Sulfatide storage in neurons causes hyperexcitability and axonal degeneration in a mouse model of metachromatic leukodystrophy.

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12 December 2020

Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease.

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12 December 2020

Trends in haematopoietic cell transplantation for inborn errors of metabolism

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12 December 2020

The lysosomal trafficking of acid sphingomyelinase is mediated by sortilin and mannose 6-phosphate receptor

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12 December 2020

The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction.

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12 December 2020

Sphingolipids and cell signalling

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12 December 2020

The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus

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12 December 2020

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

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12 December 2020

Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses

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12 December 2020

Rab GTPases as coordinators of vesicle traffic

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12 December 2020

Embryonic stem cell-based reduction of central nervous system sulfatide storage in an animal model of metachromatic leukodystrophy.

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12 December 2020

Prevalence of lysosomal storage disorders

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12 December 2020

A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency

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12 December 2020

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

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12 December 2020

Lysosulfatide (sulfogalactosylsphingosine) accumulation in tissues from patients with metachromatic leukodystrophy

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12 December 2020

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

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12 December 2020

Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy

1 reference

12 December 2020

Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons.

1 reference

12 December 2020

Autophagic dysfunction in mucolipidosis type IV patients

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12 December 2020

Intracerebral adeno-associated virus-mediated gene transfer in rapidly progressive forms of metachromatic leukodystrophy.

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12 December 2020

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry

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12 December 2020

Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation

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12 December 2020

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency

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12 December 2020

Occurrence of lysoganglioside lyso-GM2 (II3-Neu5Ac-gangliotriaosylsphingosine) in GM2 gangliosidosis brain.

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12 December 2020

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

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12 December 2020

Accumulation of lysosulfatide (sulfogalactosylsphingosine) in tissues of a boy with metachromatic leukodystrophy

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12 December 2020

Murine models of acute neuronopathic Gaucher disease

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12 December 2020

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

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12 December 2020

N-butyldeoxygalactonojirimycin inhibits glycolipid biosynthesis but does not affect N-linked oligosaccharide processing

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12 December 2020

Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases

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12 December 2020

Human CD34+ cells differentiate into microglia and express recombinant therapeutic protein

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12 December 2020

Degradation of G(M1) and G(M2) by mammalian sialidases

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12 December 2020

Kinetics of central nervous system microglial and macrophage engraftment: analysis using a transgenic bone marrow transplantation model.

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12 December 2020

Substantial sulfatide deficiency and ceramide elevation in very early Alzheimer's disease: potential role in disease pathogenesis

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12 December 2020

Krabbe disease: psychosine-mediated activation of phospholipase A2 in oligodendrocyte cell death

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12 December 2020

Absence of MHC class II molecules reduces CNS demyelination, microglial/macrophage infiltration, and twitching in murine globoid cell leukodystrophy

1 reference

12 December 2020

Therapeutic applications of imino sugars in lysosomal storage disorders

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12 December 2020

Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency

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12 December 2020

Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease.

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12 December 2020

The raft-associated protein MAL is required for maintenance of proper axon--glia interactions in the central nervous system

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12 December 2020

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

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12 December 2020

Saposin proteins: structure, function, and role in human lysosomal storage disorders

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12 December 2020

ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity

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12 December 2020

Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport

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12 December 2020

Overcoming the blood-brain barrier with high-dose enzyme replacement therapy in murine mucopolysaccharidosis VII.

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12 December 2020

Secondary sphingolipid accumulation in a macrophage model of Gaucher disease.

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12 December 2020

Mannose phosphorylation in health and disease

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12 December 2020

Lysosomal sulfatide storage in the brain of arylsulfatase A-deficient mice: cellular alterations and topographic distribution

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12 December 2020

Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retrovirally introduced sulfatase cDNAs

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12 December 2020

Apoptotic positive cells in Krabbe brain and induction of apoptosis in rat C6 glial cells by psychosine

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12 December 2020

Specific downregulation and mistargeting of the lipid raft-associated protein MAL in a glycolipid storage disorder

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12 December 2020

Lysosphingolipids inhibit protein kinase C: implications for the sphingolipidoses

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12 December 2020

Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis

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12 December 2020

Hereditary leucodystrophy in the mouse: the new mutant twitcher

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12 December 2020

Accelerated transport and maturation of lysosomal α–galactosidase A in Fabry lymphoblasts by an enzyme inhibitor

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12 December 2020

Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice

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12 December 2020

Gaucher disease: Perspectives on a prototype lysosomal disease

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12 December 2020

Cell-Based Screening of Active-Site Specific Chaperone for the Treatment of Fabry Disease

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12 December 2020

Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

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12 December 2020

Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease.

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12 December 2020

Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease

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12 December 2020

Substrate reduction reduces gangliosides in postnatal cerebrum-brainstem and cerebellum in GM1 gangliosidosis mice.

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12 December 2020

A block of autophagy in lysosomal storage disorders

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12 December 2020

Krabbe disease: a galactosylsphingosine (psychosine) lipidosis

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12 December 2020

Krabbe disease: genetic aspects and progress toward therapy

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12 December 2020

LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase

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12 December 2020

Endosomal accumulation of Toll-like receptor 4 causes constitutive secretion of cytokines and activation of signal transducers and activators of transcription in Niemann-Pick disease type C (NPC) fibroblasts: a potential basis for glial cell activat

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12 December 2020

A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans

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12 December 2020

Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice

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12 December 2020

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

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12 December 2020

Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice

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12 December 2020

Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking

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12 December 2020

Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects

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12 December 2020

Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect

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12 December 2020

Lysosulfatide (galactosylsphingosine-3-O-sulfate) from metachromatic leukodystrophy and normal human brain

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12 December 2020

Broad screening test for sphingolipid-storage diseases.

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12 December 2020

Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis

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12 December 2020

Parkinsonism among Gaucher disease carriers

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12 December 2020

Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C disease

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12 December 2020

Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation

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12 December 2020

Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene

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12 December 2020

Sortilin mediates the lysosomal targeting of cathepsins D and H

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12 December 2020

GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis

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12 December 2020

Epinephrine enhances lysosomal enzyme delivery across the blood brain barrier by up-regulation of the mannose 6-phosphate receptor

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12 December 2020

Acid sphingomyelinase-deficient macrophages have defective cholesterol trafficking and efflux

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12 December 2020

Development of a Rab9 transgenic mouse and its ability to increase the lifespan of a murine model of Niemann-Pick type C disease

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12 December 2020

N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis

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12 December 2020

Involvement of oxidative stress-induced abnormalities in ceramide and cholesterol metabolism in brain aging and Alzheimer's disease

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12 December 2020

GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis

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12 December 2020

Effects of various lysosphingolipids on cell growth, morphology and lipid composition in three neuroblastoma cell lines

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12 December 2020

Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease.

1 reference

12 December 2020

Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series

1 reference

12 December 2020

Enzyme replacement for lysosomal diseases

1 reference

12 December 2020

Identification of a molecular target of psychosine and its role in globoid cell formation

1 reference

12 December 2020

Developmentally regulated mannose 6-phosphate receptor-mediated transport of a lysosomal enzyme across the blood-brain barrier

1 reference

12 December 2020

Processing of epidermal glucosylceramides is required for optimal mammalian cutaneous permeability barrier function

1 reference

12 December 2020

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

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12 December 2020

Apoptosis of Neuro2a cells induced by lysosphingolipids with naturally occurring stereochemical configurations.

1 reference

12 December 2020

ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones

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12 December 2020

Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and S

1 reference

12 December 2020

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds

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12 December 2020

Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport

1 reference

12 December 2020

10.1007/S12017-010-8133-7

Identifiers

DOI

1 reference

23 August 2017

1 reference

PubMed ID

20730629