Published in J Biol Chem on April 29, 2010
Endosome maturation. EMBO J (2011) 5.22
The role of autophagy in neurodegenerative disease. Nat Med (2013) 4.46
Signals from the lysosome: a control centre for cellular clearance and energy metabolism. Nat Rev Mol Cell Biol (2013) 3.13
The cell biology of disease: lysosomal storage disorders: the cellular impact of lysosomal dysfunction. J Cell Biol (2012) 1.93
Lipid storage disorders block lysosomal trafficking by inhibiting a TRP channel and lysosomal calcium release. Nat Commun (2012) 1.85
Clinical effect and safety profile of recombinant human lysosomal acid lipase in patients with cholesteryl ester storage disease. Hepatology (2013) 1.78
Blood-brain barrier structure and function and the challenges for CNS drug delivery. J Inherit Metab Dis (2013) 1.62
Clarifying lysosomal storage diseases. Trends Neurosci (2011) 1.57
ERdj3 is an endoplasmic reticulum degradation factor for mutant glucocerebrosidase variants linked to Gaucher's disease. Chem Biol (2014) 1.52
Uric Acid as a Marker of Mortality and Morbidity in Fabry Disease. PLoS One (2016) 1.39
Endoplasmic reticulum Ca(2+) handling in excitable cells in health and disease. Pharmacol Rev (2011) 1.38
A TRP channel in the lysosome regulates large particle phagocytosis via focal exocytosis. Dev Cell (2013) 1.36
Lysosomal physiology. Annu Rev Physiol (2015) 1.34
Immunologic privilege in the central nervous system and the blood-brain barrier. J Cereb Blood Flow Metab (2012) 1.30
Neuronal and epithelial cell rescue resolves chronic systemic inflammation in the lipid storage disorder Niemann-Pick C. Hum Mol Genet (2012) 1.26
Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Mol Genet Metab (2013) 1.17
Lysosomal storage diseases--the horizon expands. Nat Rev Neurol (2013) 1.15
RIPK3 as a potential therapeutic target for Gaucher's disease. Nat Med (2014) 1.08
A new player in the puzzle of filovirus entry. Nat Rev Microbiol (2012) 1.08
Sphingolipid lysosomal storage disorders. Nature (2014) 1.08
Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts? Hum Mol Genet (2011) 1.07
Animal models for Gaucher disease research. Dis Model Mech (2011) 1.02
Role of TRP channels in the regulation of the endosomal pathway. Physiology (Bethesda) (2011) 0.98
Dysregulation of gene expression in a lysosomal storage disease varies between brain regions implicating unexpected mechanisms of neuropathology. PLoS One (2012) 0.98
Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration. Hum Mol Genet (2013) 0.96
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts. J Inherit Metab Dis (2012) 0.95
Mucopolysacccharidoses: From understanding to treatment, a century of discoveries. Genet Mol Biol (2012) 0.94
Cross-talk of membrane lipids and Alzheimer-related proteins. Mol Neurodegener (2013) 0.93
FKBP10 depletion enhances glucocerebrosidase proteostasis in Gaucher disease fibroblasts. Chem Biol (2013) 0.92
Dysregulated autophagy contributes to podocyte damage in Fabry's disease. PLoS One (2013) 0.91
Oxidative stress: a pathogenic mechanism for Niemann-Pick type C disease. Oxid Med Cell Longev (2012) 0.90
Lysosomal storage disorders: molecular basis and laboratory testing. Hum Genomics (2011) 0.90
Arylsulfatase G inactivation causes loss of heparan sulfate 3-O-sulfatase activity and mucopolysaccharidosis in mice. Proc Natl Acad Sci U S A (2012) 0.89
Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis. Mol Cell Biol (2013) 0.88
Analysis of the human diseasome using phenotype similarity between common, genetic, and infectious diseases. Sci Rep (2015) 0.86
Single cell ganglioside catabolism in primary cerebellar neurons and glia. Neurochem Res (2012) 0.86
Gaucher Disease-Induced Pluripotent Stem Cells Display Decreased Erythroid Potential and Aberrant Myelopoiesis. Stem Cells Transl Med (2015) 0.86
Lysosome and calcium dysregulation in Alzheimer's disease: partners in crime. Biochem Soc Trans (2013) 0.86
Intellectual and neurological functioning in Morquio syndrome (MPS IVa). J Inherit Metab Dis (2012) 0.86
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. Hum Mol Genet (2015) 0.85
Loss of PIKfyve in platelets causes a lysosomal disease leading to inflammation and thrombosis in mice. Nat Commun (2014) 0.83
Developing therapeutic approaches for metachromatic leukodystrophy. Drug Des Devel Ther (2013) 0.83
Plasma signature of neurological disease in the monogenetic disorder Niemann-Pick Type C. J Biol Chem (2014) 0.83
Gene therapy for the neurological manifestations in lysosomal storage disorders. J Lipid Res (2014) 0.83
Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease. Mol Genet Metab (2013) 0.83
Unraveling the actions of AMP-activated protein kinase in metabolic diseases: Systemic to molecular insights. Metabolism (2016) 0.83
Lysosomal storage diseases and the heat shock response: convergences and therapeutic opportunities. J Lipid Res (2014) 0.82
Corrective GUSB transfer to the canine mucopolysaccharidosis VII brain. Mol Ther (2013) 0.82
Rapid assembly of a library of lipophilic iminosugars via the thiol-ene reaction yields promising pharmacological chaperones for the treatment of Gaucher disease. J Med Chem (2012) 0.82
Biomarkers of bone remodeling in children with mucopolysaccharidosis types I, II, and VI. J Pediatr Rehabil Med (2014) 0.81
Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases. Metab Brain Dis (2013) 0.81
Neuroimmune mechanisms in Krabbe's disease. J Neurosci Res (2016) 0.80
Role of extracellular calcium and mitochondrial oxygen species in psychosine-induced oligodendrocyte cell death. Cell Death Dis (2014) 0.80
Cell microencapsulation: a potential tool for the treatment of neuronopathic lysosomal storage diseases. J Inherit Metab Dis (2011) 0.80
Loss of MyD88 alters neuroinflammatory response and attenuates early Purkinje cell loss in a spinocerebellar ataxia type 6 mouse model. Hum Mol Genet (2015) 0.79
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1. Blood (2013) 0.79
Haploinsufficiency of cathepsin D leads to lysosomal dysfunction and promotes cell-to-cell transmission of α-synuclein aggregates. Cell Death Dis (2015) 0.79
Elevation of GM2 ganglioside during ethanol-induced apoptotic neurodegeneration in the developing mouse brain. J Neurochem (2012) 0.78
Urine bikunin as a marker of renal impairment in Fabry's disease. Biomed Res Int (2013) 0.78
MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro. Am J Physiol Lung Cell Mol Physiol (2015) 0.78
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis. Orphanet J Rare Dis (2014) 0.78
Immune dysfunction in Niemann-Pick disease type C. J Neurochem (2015) 0.78
Murine neural stem cells model Hunter disease in vitro: glial cell-mediated neurodegeneration as a possible mechanism involved. Cell Death Dis (2013) 0.78
Endoplasmic reticulum and lysosomal Ca(2+) stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts. Cell Calcium (2015) 0.78
Astrocytes and lysosomal storage diseases. Neuroscience (2015) 0.78
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C. Eur J Immunol (2012) 0.78
Different molecular mechanisms involved in spontaneous and oxidative stress-induced mitochondrial fragmentation in tripeptidyl peptidase-1 (TPP-1)-deficient fibroblasts. Biosci Rep (2013) 0.77
The biological clock and the molecular basis of lysosomal storage diseases. JIMD Rep (2015) 0.76
Neuroinflammatory paradigms in lysosomal storage diseases. Front Neurosci (2015) 0.76
Induction of the type I interferon response in neurological forms of Gaucher disease. J Neuroinflammation (2016) 0.76
Invertebrate models of lysosomal storage disease: what have we learned so far? Invert Neurosci (2011) 0.76
Therapeutic approaches for lysosomal storage diseases. Ther Adv Endocrinol Metab (2010) 0.76
A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease. Dis Model Mech (2016) 0.75
Redox regulation of autophagy in skeletal muscle. Free Radic Biol Med (2016) 0.75
BK channel agonist represents a potential therapeutic approach for lysosomal storage diseases. Sci Rep (2016) 0.75
The Underexploited Role of Non-Coding RNAs in Lysosomal Storage Diseases. Front Endocrinol (Lausanne) (2016) 0.75
Combination Therapies for Lysosomal Storage Diseases: A Complex Answer to a Simple Problem. Pediatr Endocrinol Rev (2016) 0.75
Personalised medicine in paediatrics: individualising treatment in children with rare neurological diseases. EPMA J (2011) 0.75
Clinical neurogenetics: neuropathic lysosomal storage disorders. Neurol Clin (2013) 0.75
From Lysosomal Storage Diseases to NKT Cell Activation and Back. Int J Mol Sci (2017) 0.75
Ganglioside accumulation in activated glia in the developing brain: comparison between WT and GalNAcT KO mice. J Lipid Res (2015) 0.75
Acidic Ca(2+) stores in neurodegeneration. Messenger (Los Angel) (2016) 0.75
Fabry disease in children: a federal screening programme in Russia. Eur J Pediatr (2017) 0.75
Sphingolipid accumulation causes mitochondrial dysregulation and cell death. Cell Death Differ (2017) 0.75
Quantitative diffusion tensor imaging analysis does not distinguish pediatric canines with mucopolysaccharidosis I from control canines. Neuroradiol J (2017) 0.75
Adeno-associated viral gene therapy for mucopolysaccharidoses exhibiting neurodegeneration. J Mol Med (Berl) (2017) 0.75
The lysosomal potassium channel TMEM175 adopts a novel tetrameric architecture. Nature (2017) 0.75
Mitochondrial Dysfunction in Lysosomal Storage Disorders. Diseases (2016) 0.75
Biomarkers in Lysosomal Storage Diseases. Diseases (2016) 0.75
Microglial physiology: unique stimuli, specialized responses. Annu Rev Immunol (2009) 6.79
The cell biology of lysosomal storage disorders. Nat Rev Mol Cell Biol (2004) 3.89
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med (2008) 3.86
Neuronal ceroid lipofuscinoses. Biochim Biophys Acta (2008) 2.29
Lysosomal disorders: from storage to cellular damage. Biochim Biophys Acta (2008) 2.22
Broad screening test for sphingolipid-storage diseases. Lancet (1999) 1.97
Innate and adaptive immune activation in the brain of MPS IIIB mouse model. J Neurosci Res (2009) 1.90
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. Brain (2003) 1.82
Cell-autonomous death of cerebellar purkinje neurons with autophagy in Niemann-Pick type C disease. PLoS Genet (2005) 1.77
Autophagy in Niemann-Pick C disease is dependent upon Beclin-1 and responsive to lipid trafficking defects. Hum Mol Genet (2007) 1.73
Pro-inflammatory cytokines and the pathogenesis of Gaucher's disease: increased release of interleukin-6 and interleukin-10. QJM (1997) 1.73
Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome. Blood (2009) 1.70
GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis. Mol Cell (2009) 1.66
Storage solutions: treating lysosomal disorders of the brain. Nat Rev Neurosci (2005) 1.65
Gaucher disease: pathological mechanisms and modern management. Br J Haematol (2005) 1.65
GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis. Mol Cell (2004) 1.64
Mitochondrial aberrations in mucolipidosis Type IV. J Biol Chem (2006) 1.61
ER and oxidative stresses are common mediators of apoptosis in both neurodegenerative and non-neurodegenerative lysosomal storage disorders and are alleviated by chemical chaperones. Hum Mol Genet (2007) 1.60
Autophagy and lysosomes in Pompe disease. Autophagy (2006) 1.54
Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease. Traffic (2010) 1.49
Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice. Proc Natl Acad Sci U S A (2004) 1.48
Cholesterol accumulation is associated with lysosomal dysfunction and autophagic stress in Npc1 -/- mouse brain. Am J Pathol (2007) 1.46
Lysosomal storage diseases as disorders of autophagy. Autophagy (2007) 1.46
Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood (2003) 1.44
Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL. Hum Mol Genet (2006) 1.39
Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling. PLoS One (2006) 1.37
Secondary accumulation of gangliosides in lysosomal storage disorders. Semin Cell Dev Biol (2004) 1.34
Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone. J Cell Mol Med (2008) 1.33
LAMP-2: a control step for phagosome and autophagosome maturation. Autophagy (2008) 1.33
Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons. J Biol Chem (1999) 1.29
Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis. Biochem Biophys Res Commun (2008) 1.21
Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells. Mol Genet Metab (2008) 1.21
Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol Dis (2005) 1.20
Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms. J Biol Chem (2003) 1.18
Glucosylceramide modulates membrane traffic along the endocytic pathway. J Lipid Res (2002) 1.17
Role of autophagy in the pathogenesis of Pompe disease. Acta Myol (2007) 1.16
NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin. Ann Neurol (2004) 1.15
Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy. Brain Res (2009) 1.12
Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1. Neurobiol Dis (2009) 1.11
Farber disease: clinical presentation, pathogenesis and a new approach to treatment. Pediatr Rheumatol Online J (2007) 1.09
Endocytosis and sorting of glycosphingolipids in sphingolipid storage disease. Trends Cell Biol (2002) 1.08
Mucopolysaccharidosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis. Brain Res (2009) 1.05
Lipid trafficking defects increase Beclin-1 and activate autophagy in Niemann-Pick type C disease. Autophagy (2007) 1.05
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. J Biol Chem (2003) 1.05
Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress. J Cell Physiol (2007) 1.01
Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments. J Neurosci Res (2006) 1.01
Distinct patterns of serum immunoreactivity as evidence for multiple brain-directed autoantibodies in juvenile neuronal ceroid lipofuscinosis. Neuropathol Appl Neurobiol (2006) 0.98
No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease. Hum Mol Genet (2009) 0.96
Palmitoyl-protein thioesterase-1 deficiency leads to the activation of caspase-9 and contributes to rapid neurodegeneration in INCL. Hum Mol Genet (2006) 0.96
Association of autophagy with cholesterol-accumulated compartments in Niemann-Pick disease type C cells. J Clin Neurosci (2009) 0.95
Analysis of the lung pathology and alveolar macrophage function in the acid sphingomyelinase--deficient mouse model of Niemann-Pick disease. Lab Invest (2001) 0.92
Blood oxidative stress markers in Gaucher disease patients. Clin Chim Acta (2005) 0.91
Defective calcium homeostasis in the cerebellum in a mouse model of Niemann-Pick A disease. J Neurochem (2005) 0.89
Alterations in oxidative markers in the cerebellum and peripheral organs in MPS I mice. Cell Mol Neurobiol (2008) 0.88
Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses. J Clin Invest (2004) 0.87
Immune response in leukodystrophies. Pediatr Neurol (2007) 0.84
Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues. Biochem J (2003) 0.83
Glycosphingolipids in endocytic membrane transport. Semin Cell Dev Biol (2004) 0.82
Mechanisms of neurodegeneration in neuronal ceroid-lipofuscinoses. Acta Neuropathol (2006) 0.82
An exposed carboxyl group on sialic acid is essential for gangliosides to inhibit calcium uptake via the sarco/endoplasmic reticulum Ca2+-ATPase: relevance to gangliosidoses. J Neurochem (2008) 0.80
Autophagy induction and autophagosome clearance in neurons: relationship to autophagic pathology in Alzheimer's disease. J Neurosci (2008) 4.63
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med (2008) 3.86
Glycosphingolipid synthesis requires FAPP2 transfer of glucosylceramide. Nature (2007) 3.13
When do Lasses (longevity assurance genes) become CerS (ceramide synthases)?: Insights into the regulation of ceramide synthesis. J Biol Chem (2006) 3.09
Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease. Nat Med (2007) 2.57
Characterization of ceramide synthase 2: tissue distribution, substrate specificity, and inhibition by sphingosine 1-phosphate. J Biol Chem (2007) 2.50
Invariant NKT cells reduce the immunosuppressive activity of influenza A virus-induced myeloid-derived suppressor cells in mice and humans. J Clin Invest (2008) 2.46
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet (2004) 2.45
Normal development and function of invariant natural killer T cells in mice with isoglobotrihexosylceramide (iGb3) deficiency. Proc Natl Acad Sci U S A (2007) 2.24
Two mammalian longevity assurance gene (LAG1) family members, trh1 and trh4, regulate dihydroceramide synthesis using different fatty acyl-CoA donors. J Biol Chem (2003) 2.06
Targeting glycosylation as a therapeutic approach. Nat Rev Drug Discov (2002) 1.95
Mammalian ceramide synthases. IUBMB Life (2010) 1.94
Modulation of human natural killer T cell ligands on TLR-mediated antigen-presenting cell activation. Proc Natl Acad Sci U S A (2007) 1.92
Reversible infertility in male mice after oral administration of alkylated imino sugars: a nonhormonal approach to male contraception. Proc Natl Acad Sci U S A (2002) 1.88
Implications for invariant natural killer T cell ligands due to the restricted presence of isoglobotrihexosylceramide in mammals. Proc Natl Acad Sci U S A (2007) 1.84
Purified TPC isoforms form NAADP receptors with distinct roles for Ca(2+) signaling and endolysosomal trafficking. Curr Biol (2010) 1.84
Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell system. Plant Biotechnol J (2007) 1.82
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res (2011) 1.76
X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease. EMBO Rep (2003) 1.70
Molecular mechanisms of endolysosomal Ca2+ signalling in health and disease. Biochem J (2011) 1.68
Storage solutions: treating lysosomal disorders of the brain. Nat Rev Neurosci (2005) 1.65
Gaucher disease: pathological mechanisms and modern management. Br J Haematol (2005) 1.65
Impaired selection of invariant natural killer T cells in diverse mouse models of glycosphingolipid lysosomal storage diseases. J Exp Med (2006) 1.57
A critical role for ceramide synthase 2 in liver homeostasis: I. alterations in lipid metabolic pathways. J Biol Chem (2010) 1.56
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol Dis (2004) 1.50
Lipids on trial: the search for the offending metabolite in Niemann-Pick type C disease. Traffic (2010) 1.49
Analysis of fluorescently labeled glycosphingolipid-derived oligosaccharides following ceramide glycanase digestion and anthranilic acid labeling. Anal Biochem (2004) 1.42
A critical role for ceramide synthase 2 in liver homeostasis: II. insights into molecular changes leading to hepatopathy. J Biol Chem (2010) 1.41
Ceramide synthesis is modulated by the sphingosine analog FTY720 via a mixture of uncompetitive and noncompetitive inhibition in an Acyl-CoA chain length-dependent manner. J Biol Chem (2009) 1.32
Imino sugar inhibitors for treating the lysosomal glycosphingolipidoses. Glycobiology (2005) 1.31
LASS5 is a bona fide dihydroceramide synthase that selectively utilizes palmitoyl-CoA as acyl donor. J Biol Chem (2005) 1.31
Ceramide synthases: roles in cell physiology and signaling. Adv Exp Med Biol (2010) 1.30
Lysosomal Ca(2+) homeostasis: role in pathogenesis of lysosomal storage diseases. Cell Calcium (2011) 1.30
Kinetic characterization of mammalian ceramide synthases: determination of K(m) values towards sphinganine. FEBS Lett (2007) 1.29
Death-associated protein (DAP) kinase plays a central role in ceramide-induced apoptosis in cultured hippocampal neurons. J Biol Chem (2001) 1.26
Acid beta-glucosidase: insights from structural analysis and relevance to Gaucher disease therapy. Biol Chem (2008) 1.25
Characterization of gene-activated human acid-beta-glucosidase: crystal structure, glycan composition, and internalization into macrophages. Glycobiology (2009) 1.25
(Dihydro)ceramide synthase 1 regulated sensitivity to cisplatin is associated with the activation of p38 mitogen-activated protein kinase and is abrogated by sphingosine kinase 1. Mol Cancer Res (2007) 1.25
The role of the ceramide acyl chain length in neurodegeneration: involvement of ceramide synthases. Neuromolecular Med (2010) 1.25
Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond. Mov Disord (2011) 1.22
Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport. J Biol Chem (2004) 1.22
Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol Dis (2005) 1.20
Diverse endogenous antigens for mouse NKT cells: self-antigens that are not glycosphingolipids. J Immunol (2010) 1.20
Male germ cells require polyenoic sphingolipids with complex glycosylation for completion of meiosis: a link to ceramide synthase-3. J Biol Chem (2008) 1.18
Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms. J Biol Chem (2003) 1.18
X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease. J Biol Chem (2005) 1.18
Glucosylceramide modulates membrane traffic along the endocytic pathway. J Lipid Res (2002) 1.17
The association of Shiga-like toxin with detergent-resistant membranes is modulated by glucosylceramide and is an essential requirement in the endoplasmic reticulum for a cytotoxic effect. Mol Biol Cell (2005) 1.15
NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin. Ann Neurol (2004) 1.15
Sphingolipids are required for the stable membrane association of glycosylphosphatidylinositol-anchored proteins in yeast. J Biol Chem (2002) 1.14
Ablation of ceramide synthase 2 causes chronic oxidative stress due to disruption of the mitochondrial respiratory chain. J Biol Chem (2013) 1.11
Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1. Neurobiol Dis (2009) 1.11
Crystal structures of complexes of N-butyl- and N-nonyl-deoxynojirimycin bound to acid beta-glucosidase: insights into the mechanism of chemical chaperone action in Gaucher disease. J Biol Chem (2007) 1.11
Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length. J Invest Dermatol (2013) 1.07
Ablation of very long acyl chain sphingolipids causes hepatic insulin resistance in mice due to altered detergent-resistant membranes. Hepatology (2012) 1.07
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. J Biol Chem (2003) 1.05
Lipid raft composition modulates sphingomyelinase activity and ceramide-induced membrane physical alterations. Biophys J (2009) 1.04
The roles of ceramide and complex sphingolipids in neuronal cell function. Pharmacol Res (2003) 1.04
Improved outcome of N-butyldeoxygalactonojirimycin-mediated substrate reduction therapy in a mouse model of Sandhoff disease. Neurobiol Dis (2004) 1.04
Macroautophagy is not directly involved in the metabolism of amyloid precursor protein. J Biol Chem (2010) 1.03
Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease. Hum Mol Genet (2011) 1.03
Accumulation of glucosylceramide in murine testis, caused by inhibition of beta-glucosidase 2: implications for spermatogenesis. J Biol Chem (2007) 1.03
Structural comparison of differently glycosylated forms of acid-beta-glucosidase, the defective enzyme in Gaucher disease. Acta Crystallogr D Biol Crystallogr (2006) 1.02
Animal models for Gaucher disease research. Dis Model Mech (2011) 1.02
Modulation of ceramide synthase activity via dimerization. J Biol Chem (2012) 1.02
Nerve growth factor-induced p75-mediated death of cultured hippocampal neurons is age-dependent and transduced through ceramide generated by neutral sphingomyelinase. J Biol Chem (2002) 1.01
Early glial activation, synaptic changes and axonal pathology in the thalamocortical system of Niemann-Pick type C1 mice. Neurobiol Dis (2011) 1.00
Encephalopathy caused by ablation of very long acyl chain ceramide synthesis may be largely due to reduced galactosylceramide levels. J Biol Chem (2011) 0.99
Small-molecule therapeutics for the treatment of glycolipid lysosomal storage disorders. Philos Trans R Soc Lond B Biol Sci (2003) 0.99
Effect of ceramide structure on membrane biophysical properties: the role of acyl chain length and unsaturation. Biochim Biophys Acta (2011) 0.99
Vesicular and non-vesicular transport feed distinct glycosylation pathways in the Golgi. Nature (2013) 0.98
Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease. Brain (2012) 0.98
Ablation of ceramide synthase 2 strongly affects biophysical properties of membranes. J Lipid Res (2012) 0.97
β-Glucosidase 2 (GBA2) activity and imino sugar pharmacology. J Biol Chem (2013) 0.97
Ceramide synthases expression and role of ceramide synthase-2 in the lung: insight from human lung cells and mouse models. PLoS One (2013) 0.97
No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease. Hum Mol Genet (2009) 0.96
Globosides but not isoglobosides can impact the development of invariant NKT cells and their interaction with dendritic cells. J Immunol (2012) 0.96
Methylation of glycosylated sphingolipid modulates membrane lipid topography and pathogenicity of Cryptococcus neoformans. Cell Microbiol (2012) 0.96
Do longevity assurance genes containing Hox domains regulate cell development via ceramide synthesis? FEBS Lett (2002) 0.96
A new functional motif in Hox domain-containing ceramide synthases: identification of a novel region flanking the Hox and TLC domains essential for activity. J Biol Chem (2007) 0.96
Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration. Hum Mol Genet (2013) 0.96
The pathogenesis of glycosphingolipid storage disorders. Semin Cell Dev Biol (2004) 0.96
Increased glycosphingolipid levels in serum and aortae of apolipoprotein E gene knockout mice. J Lipid Res (2002) 0.95
Ceramide synthase 1 is regulated by proteasomal mediated turnover. Biochim Biophys Acta (2009) 0.95
N-butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis. J Neurochem (2004) 0.94
The complexity of sphingolipid biosynthesis in the endoplasmic reticulum. Biochim Biophys Acta (2013) 0.94
Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis. Brain (2013) 0.93
Acyl chain specificity of ceramide synthases is determined within a region of 150 residues in the Tram-Lag-CLN8 (TLC) domain. J Biol Chem (2011) 0.93
Increased ceramide synthase 2 and 6 mRNA levels in breast cancer tissues and correlation with sphingosine kinase expression. Biochem Biophys Res Commun (2009) 0.93
Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses. Hum Mol Genet (2010) 0.93
Aminopropyl solid phase extraction and 2 D TLC of neutral glycosphingolipids and neutral lysoglycosphingolipids. J Lipid Res (2003) 0.92
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker. J Clin Invest (2014) 0.92
Preparation, biochemical characterization and biological properties of radiolabelled N-alkylated deoxynojirimycins. Biochem J (2002) 0.92
N-butyldeoxygalactonojirimycin reduces brain ganglioside and GM2 content in neonatal Sandhoff disease mice. Neurochem Int (2007) 0.92
6-Amino-6-deoxy-5,6-di-N-(N'-octyliminomethylidene)nojirimycin: synthesis, biological evaluation, and crystal structure in complex with acid beta-glucosidase. Chembiochem (2009) 0.92
The postacrosomal assembly of sperm head protein, PAWP, is independent of acrosome formation and dependent on microtubular manchette transport. Dev Biol (2007) 0.92
Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis. Mol Genet Metab (2008) 0.92
Lyso-glycosphingolipids mobilize calcium from brain microsomes via multiple mechanisms. Biochem J (2003) 0.91