Anthony H Futerman

Summary

Affiliation: Weizmann Institute of Science
Country: Israel

Publications

  1. ncbi request reprint The cell biology of lysosomal storage disorders
    Anthony H Futerman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Nat Rev Mol Cell Biol 5:554-65. 2004
  2. ncbi request reprint The ins and outs of sphingolipid synthesis
    Anthony H Futerman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Trends Cell Biol 15:312-8. 2005
  3. ncbi request reprint New directions in the treatment of Gaucher disease
    Anthony H Futerman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Trends Pharmacol Sci 25:147-51. 2004
  4. ncbi request reprint Intracellular trafficking of sphingolipids: relationship to biosynthesis
    Anthony H Futerman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Biochim Biophys Acta 1758:1885-92. 2006
  5. ncbi request reprint [Lysosomal storage diseases: pathological mechanisms and therapeutic options.]
    Anthony H Futerman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Med Sci (Paris) 21:16-9. 2005
  6. pmc The complex life of simple sphingolipids
    Anthony H Futerman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    EMBO Rep 5:777-82. 2004
  7. ncbi request reprint Two mammalian longevity assurance gene (LAG1) family members, trh1 and trh4, regulate dihydroceramide synthesis using different fatty acyl-CoA donors
    Christian Riebeling
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 278:43452-9. 2003
  8. pmc A critical role for ceramide synthase 2 in liver homeostasis: I. alterations in lipid metabolic pathways
    Yael Pewzner-Jung
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 285:10902-10. 2010
  9. pmc Ablation of ceramide synthase 2 causes chronic oxidative stress due to disruption of the mitochondrial respiratory chain
    Hila Zigdon
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 288:4947-56. 2013
  10. pmc A critical role for ceramide synthase 2 in liver homeostasis: II. insights into molecular changes leading to hepatopathy
    Yael Pewzner-Jung
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 285:10911-23. 2010

Collaborators

Detail Information

Publications73

  1. ncbi request reprint The cell biology of lysosomal storage disorders
    Anthony H Futerman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Nat Rev Mol Cell Biol 5:554-65. 2004
  2. ncbi request reprint The ins and outs of sphingolipid synthesis
    Anthony H Futerman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Trends Cell Biol 15:312-8. 2005
    ....
  3. ncbi request reprint New directions in the treatment of Gaucher disease
    Anthony H Futerman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Trends Pharmacol Sci 25:147-51. 2004
  4. ncbi request reprint Intracellular trafficking of sphingolipids: relationship to biosynthesis
    Anthony H Futerman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Biochim Biophys Acta 1758:1885-92. 2006
    ....
  5. ncbi request reprint [Lysosomal storage diseases: pathological mechanisms and therapeutic options.]
    Anthony H Futerman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Med Sci (Paris) 21:16-9. 2005
    ..Various treatments are discussed, including enzyme replacement therapy, which is the most successful treatment available today. double dagger...
  6. pmc The complex life of simple sphingolipids
    Anthony H Futerman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    EMBO Rep 5:777-82. 2004
    ..This should set the conceptual and experimental framework that will eventually lead to a fully integrated and comprehensive model of the functions of specific sphingolipids in regulating defined aspects of cell physiology...
  7. ncbi request reprint Two mammalian longevity assurance gene (LAG1) family members, trh1 and trh4, regulate dihydroceramide synthesis using different fatty acyl-CoA donors
    Christian Riebeling
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 278:43452-9. 2003
    ..and Futerman, A. H. (2002) FEBS Lett. 528, 3-4) that Lag1p family members regulate (dihydro)ceramide synthases responsible for production of sphingolipids containing different fatty acids...
  8. pmc A critical role for ceramide synthase 2 in liver homeostasis: I. alterations in lipid metabolic pathways
    Yael Pewzner-Jung
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 285:10902-10. 2010
    ..Together, these results demonstrate novel modes of cross-talk and regulation between the various branches of lipid metabolic pathways upon inhibition of very long acyl chain ceramide synthesis...
  9. pmc Ablation of ceramide synthase 2 causes chronic oxidative stress due to disruption of the mitochondrial respiratory chain
    Hila Zigdon
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 288:4947-56. 2013
    ..These results are of relevance for understanding modulation of ROS signaling by sphingolipids...
  10. pmc A critical role for ceramide synthase 2 in liver homeostasis: II. insights into molecular changes leading to hepatopathy
    Yael Pewzner-Jung
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 285:10911-23. 2010
    ..We propose a functional rationale for the synthesis of sphingolipids with very long acyl chains in liver homeostasis and in cell physiology...
  11. ncbi request reprint Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease
    Rosaria Buccoliero
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
    J Neurochem 90:80-8. 2004
    ....
  12. ncbi request reprint Changes in macrophage morphology in a Gaucher disease model are dependent on CTP:phosphocholine cytidylyltransferase alpha
    Yaacov Kacher
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Blood Cells Mol Dis 39:124-9. 2007
    ..Together, these results suggest that the increase in PC biosynthesis is mediated via CCTalpha, and suggests a possible role for macrophage CCTalpha in Gaucher disease pathology...
  13. ncbi request reprint Kinetic characterization of mammalian ceramide synthases: determination of K(m) values towards sphinganine
    Sujoy Lahiri
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    FEBS Lett 581:5289-94. 2007
    ..e. CerS4). The availability of this assay will permit further accurate characterization of the kinetic parameters of mammalian CerS proteins...
  14. ncbi request reprint 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
    Boris Brumshtein
    Department of Structural Biology, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 282:29052-8. 2007
    ..Together, these results have significance for understanding the mechanism of action of GlcCerase and the mode of GlcCerase chaperoning by imino sugars...
  15. pmc Protection of a ceramide synthase 2 null mouse from drug-induced liver injury: role of gap junction dysfunction and connexin 32 mislocalization
    Woo Jae Park
    From the Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 288:30904-16. 2013
    ..We establish that Gap junction function is compromised upon altering the sphingolipid acyl chain length composition, which is of relevance for understanding the regulation of drug-induced liver injury. ..
  16. ncbi request reprint 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
    Dori Pelled
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 278:29496-501. 2003
    ..This study suggests a mechanistic link among GM2 accumulation, reduced SERCA activity, and neuronal cell death, which may be of significance for delineating the neuropathophysiology of Sandhoff disease...
  17. pmc Lyso-glycosphingolipids mobilize calcium from brain microsomes via multiple mechanisms
    Emyr Lloyd-Evans
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Biochem J 375:561-5. 2003
    ..We conclude that different lyso-GSLs modulate Ca2+ mobilization via different mechanisms, and discuss the relevance of these findings to the GSL storage diseases in which lyso-GSLs accumulate...
  18. pmc 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
    Sujoy Lahiri
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 284:16090-8. 2009
    ..Our data suggest a novel mechanism by which FTY720 might mediate some of its biological effects, which may be of mechanistic significance for understanding its mode of action...
  19. doi request reprint Characterization of ceramide synthase 2: tissue distribution, substrate specificity, and inhibition by sphingosine 1-phosphate
    Elad L Laviad
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 283:5677-84. 2008
    ....
  20. doi request reprint Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses
    Einat B Vitner
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
    Hum Mol Genet 19:3583-90. 2010
    ....
  21. doi request reprint Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease
    Einat B Vitner
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Brain 135:1724-35. 2012
    ....
  22. pmc Acyl chain specificity of ceramide synthases is determined within a region of 150 residues in the Tram-Lag-CLN8 (TLC) domain
    Rotem Tidhar
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 287:3197-206. 2012
    ....
  23. ncbi request reprint Ceramide synthases: roles in cell physiology and signaling
    Johnny Stiban
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Adv Exp Med Biol 688:60-71. 2010
    ..Finally, we discuss the putative roles of CerS and the ceramide derived from the CerS, in signaling pathways and in development of disease...
  24. pmc Characterization of gene-activated human acid-beta-glucosidase: crystal structure, glycan composition, and internalization into macrophages
    Boris Brumshtein
    Department of Neurobiology, Weizmann Institute of Science, Rehovot 76100, Israel
    Glycobiology 20:24-32. 2010
    ..These differences in glycosylation affect cellular internalization; the rate of velaglucerase alfa internalization into human macrophages is at least 2-fold greater than that of imiglucerase...
  25. doi request reprint Acid beta-glucosidase: insights from structural analysis and relevance to Gaucher disease therapy
    Yaacov Kacher
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Biol Chem 389:1361-9. 2008
    ..We also discuss the stability of Cerezyme, which can be altered by modification of its N-glycan chains with possible implications for improved ERT in Gaucher disease...
  26. ncbi request reprint X-ray structure of human acid-beta-glucosidase covalently bound to conduritol-B-epoxide. Implications for Gaucher disease
    Lakshmanane Premkumar
    Department of Structural Biology, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 280:23815-9. 2005
    ....
  27. ncbi request reprint Enhanced calcium release in the acute neuronopathic form of Gaucher disease
    Dori Pelled
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Neurobiol Dis 18:83-8. 2005
    ..These findings suggest that defective calcium homeostasis may be a mechanism responsible for neuropathophysiology in acute neuronopathic Gaucher disease, and may potentially offer new therapeutic approaches for disease management...
  28. doi request reprint Spatial and temporal correlation between neuron loss and neuroinflammation in a mouse model of neuronopathic Gaucher disease
    Tamar Farfel-Becker
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Hum Mol Genet 20:1375-86. 2011
    ..In addition, we establish that microglial activation and astrogliosis are spatially and temporally correlated with selective neuron loss...
  29. pmc Encephalopathy caused by ablation of very long acyl chain ceramide synthesis may be largely due to reduced galactosylceramide levels
    Oshrit Ben-David
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
    J Biol Chem 286:30022-33. 2011
    ..Together, our data demonstrate a key role in the brain for SLs containing very long acyl chains and in particular GalCer with a reduction in their levels leading to distinctive morphological abnormalities in defined brain regions...
  30. pmc Molecular basis of reduced glucosylceramidase activity in the most common Gaucher disease mutant, N370S
    Marc N Offman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 285:42105-14. 2010
    ..Such analysis provides a new framework for determination of the structure of other Gaucher disease mutants and suggests new approaches for rational drug design...
  31. doi request reprint Cyclodextrin-mediated crystallization of acid β-glucosidase in complex with amphiphilic bicyclic nojirimycin analogues
    Boris Brumshtein
    Department of Structural Biology, Weizmann Institute of Science, Rehovot, 76100, Israel
    Org Biomol Chem 9:4160-7. 2011
    ..Our results further suggest that cyclodextrin derivatives might serve as suitable delivery systems of amphiphilic glycosidase inhibitors in a biomedical context...
  32. doi request reprint Ablation of very long acyl chain sphingolipids causes hepatic insulin resistance in mice due to altered detergent-resistant membranes
    Joo Won Park
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
    Hepatology 57:525-32. 2013
    ....
  33. ncbi request reprint Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms
    Emyr Lloyd-Evans
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 278:23594-9. 2003
    ....
  34. ncbi request reprint Defective calcium homeostasis in the cerebellum in a mouse model of Niemann-Pick A disease
    Luba Ginzburg
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
    J Neurochem 95:1619-28. 2005
    ..We discuss possible pathological mechanisms related to calcium dysfunction that may cause Purkinje cell degeneration, and as a result, the onset of neuropathology in Niemann-Pick A disease...
  35. pmc Common and uncommon pathogenic cascades in lysosomal storage diseases
    Einat B Vitner
    From the Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 285:20423-7. 2010
    ..We now review how these cascades impact upon LSD pathology and suggest how intervention in the pathways may lead to novel therapeutic approaches...
  36. ncbi request reprint A new functional motif in Hox domain-containing ceramide synthases: identification of a novel region flanking the Hox and TLC domains essential for activity
    Adi Mesika
    Departments of Biological Chemistry and Biological Services, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 282:27366-73. 2007
    ..Because this region is conserved across species, we propose that it plays a previously unidentified and essential role in CerS activity and can be used as a new motif to define Hox domain-containing CerS...
  37. ncbi request reprint Structural comparison of differently glycosylated forms of acid-beta-glucosidase, the defective enzyme in Gaucher disease
    Boris Brumshtein
    Department of Structural Biology, Weizmann Institute of Science, Israel
    Acta Crystallogr D Biol Crystallogr 62:1458-65. 2006
    ..Comparison of the structure of acid-beta-glucosidase with that of xylanase, a bacterial enzyme from a closely related protein family, demonstrates a close correspondence between the active-site residues of the two enzymes...
  38. ncbi request reprint Phosphatidylcholine metabolism is altered in a monocyte-derived macrophage model of Gaucher disease but not in lymphocytes
    Selena Trajkovic-Bodennec
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Blood Cells Mol Dis 33:77-82. 2004
    ..Since PC is a major structural component of biological membranes and the source of various second messengers, we suggest that changes in its metabolism in macrophages may be relevant for understanding Gaucher disease pathology...
  39. pmc Modulation of ceramide synthase activity via dimerization
    Elad L Laviad
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 287:21025-33. 2012
    ....
  40. ncbi request reprint Simultaneous quantification of lyso-neutral glycosphingolipids and neutral glycosphingolipids by N-acetylation with [3H]acetic anhydride
    Jacques Bodennec
    Department of Biological Chemistry, Weizmann Institute of Science, 76100 Rehovot, Israel
    J Lipid Res 44:1413-9. 2003
    ....
  41. doi request reprint The complexity of sphingolipid biosynthesis in the endoplasmic reticulum
    Rotem Tidhar
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
    Biochim Biophys Acta 1833:2511-8. 2013
    ..This article is part of a Special Issue entitled: Functional and structural diversity of endoplasmic reticulum. ..
  42. doi request reprint Impaired IL-10 transcription and release in animal models of Gaucher disease macrophages
    Yaacov Kacher
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
    Blood Cells Mol Dis 43:134-7. 2009
    ..The reduction in IL-10 secretion observed in animal models of Gaucher disease macrophages may be of relevance to explain the increase in inflammation that is often observed in Gaucher disease...
  43. pmc Animal models for Gaucher disease research
    Tamar Farfel-Becker
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Dis Model Mech 4:746-52. 2011
    ....
  44. doi request reprint Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond
    Tamar Shachar
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
    Mov Disord 26:1593-604. 2011
    ..Moreover, we propose that additional genetic, epidemiological, and clinical studies should be performed to check the precise incidence of mutations in genes encoding lysosomal proteins in patients displaying Parkinson's symptoms...
  45. doi request reprint Intracellular localization of organized lipid domains of C16-ceramide/cholesterol
    Michal Goldschmidt-Arzi
    Department of Structural Biology, Weizmann Institute of Science, Rehovot 76100, Israel
    J Struct Biol 175:21-30. 2011
    ..We discuss the relevance of these results to understanding the role of lipid lateral organization in biological membranes...
  46. doi request reprint 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
    Luba Ginzburg
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
    J Neurochem 104:140-6. 2008
    ..Finally, we attempted to use the ceramide-free ganglioside saccharides to antagonize the effects of the gangliosides on SERCA; although some reversal was observed, the inhibitory effects of the gangliosides were not completely abolished...
  47. ncbi request reprint Genetic diseases of sphingolipid metabolism: pathological mechanisms and therapeutic options
    Yaacov Kacher
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    FEBS Lett 580:5510-7. 2006
    ..In this review, we focus on recent advances in our understanding of how defects in the pathways of sphingolipid metabolism may lead to pathology. In addition, we discuss currently-available and emerging therapeutic options...
  48. ncbi request reprint LASS5 is a bona fide dihydroceramide synthase that selectively utilizes palmitoyl-CoA as acyl donor
    Sujoy Lahiri
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 280:33735-8. 2005
    ..This study identifies LASS5 as a genuine dihydroceramide synthase and demonstrates that mammalian dihydroceramide synthases do not require additional subunits for their activity...
  49. ncbi request reprint Phosphatidylcholine synthesis is elevated in neuronal models of Gaucher disease due to direct activation of CTP:phosphocholine cytidylyltransferase by glucosylceramide
    Jacques Bodennec
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    FASEB J 16:1814-6. 2002
    ..Together, these data demonstrate that GlcCer directly activates CCT, which results in elevated PC synthesis, which may account for some of the changes in growth rates observed upon neuronal GlcCer accumulation...
  50. ncbi request reprint The pathogenesis of glycosphingolipid storage disorders
    Luba Ginzburg
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Semin Cell Dev Biol 15:417-31. 2004
    ..These studies may help unravel new roles for glycosphingolipids in the regulation of normal cell physiology, as well as suggest potential new therapeutic options in the glycosphingolipid and other lysosomal storage disorders...
  51. ncbi request reprint When do Lasses (longevity assurance genes) become CerS (ceramide synthases)?: Insights into the regulation of ceramide synthesis
    Yael Pewzner-Jung
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 281:25001-5. 2006
  52. pmc Mammalian ceramide synthases
    Michal Levy
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
    IUBMB Life 62:347-56. 2010
    ....
  53. pmc X-ray structure of human acid-beta-glucosidase, the defective enzyme in Gaucher disease
    Hay Dvir
    1 Departments of Structural Biology and Neurobiology, Weizmann Institute of Science, Rehovot 76100, Israel
    EMBO Rep 4:704-9. 2003
    ..The structure provides the possibility of engineering improved GlcCerase for enzyme-replacement therapy, and for designing structure-based drugs aimed at restoring the activity of defective GlcCerase...
  54. doi request reprint Increased ceramide synthase 2 and 6 mRNA levels in breast cancer tissues and correlation with sphingosine kinase expression
    Racheli Erez-Roman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Biochem Biophys Res Commun 391:219-23. 2010
    ..Together these results suggest an important role for the CerS genes in breast cancer etiology or diagnosis...
  55. ncbi request reprint The roles of ceramide and complex sphingolipids in neuronal cell function
    Rosaria Buccoliero
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76 100, Israel
    Pharmacol Res 47:409-19. 2003
    ..Our work will be reviewed in light of studies from other laboratories, with particular emphasis on the use of models of sphingolipid storage diseases to determine how these lipids affect neuronal function...
  56. ncbi request reprint Gaucher disease: pathological mechanisms and modern management
    Marina Jmoudiak
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, Israel
    Br J Haematol 129:178-88. 2005
    ..This review, after discussing pathological mechanisms, evaluates the advantages and disadvantages of existing therapies...
  57. ncbi request reprint Glycosphingolipidoses: beyond the enzymatic defect
    Annick Raas-Rothschild
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Glycoconj J 21:295-304. 2004
    ..In this review, we discuss clinical symptoms of this group of diseases, and attempt to link disease progression and pathology with the biochemical and cellular pathways that may be potentially altered in the diseases...
  58. ncbi request reprint The role of sphingolipids in neuronal development: lessons from models of sphingolipid storage diseases
    Rosaria Buccoliero
    Weizmann Institute of Science, Department of Biological Chemistry, Rehovot, Israel
    Neurochem Res 27:565-74. 2002
    ....
  59. ncbi request reprint Antibody labeling of cholesterol/ceramide ordered domains in cell membranes
    Luana Scheffer
    Department of Structural Biology, Weizmann Institute of Science, 76100 Rehovot, Israel
    Chembiochem 8:2286-94. 2007
    ....
  60. doi request reprint No evidence for activation of the unfolded protein response in neuronopathic models of Gaucher disease
    Tamar Farfel-Becker
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    Hum Mol Genet 18:1482-8. 2009
    ..We conclude that the proposition that the UPR is a common mediator for apoptosis in all neurodegenerative LSDs needs to be re-evaluated...
  61. doi request reprint The role of the ceramide acyl chain length in neurodegeneration: involvement of ceramide synthases
    Oshrit Ben-David
    Department of Biological Chemistry, Weizmann Institute of Science, 76100 Rehovot, Israel
    Neuromolecular Med 12:341-50. 2010
    ....
  62. ncbi request reprint Do longevity assurance genes containing Hox domains regulate cell development via ceramide synthesis?
    Krishnan Venkataraman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    FEBS Lett 528:3-4. 2002
    ..We speculate that other family members, some of which contain a Hox domain, may also be involved in the synthesis of specific ceramide pools, perhaps explaining the role of longevity assurance genes in regulating development...
  63. ncbi request reprint Aminopropyl solid phase extraction and 2 D TLC of neutral glycosphingolipids and neutral lysoglycosphingolipids
    Jacques Bodennec
    Department of Biological Chemistry, Weizmann Institute of Science, 76100 Rehovot, Israel
    J Lipid Res 44:218-26. 2003
    ....
  64. doi request reprint Neuronal forms of Gaucher disease
    Einat B Vitner
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot, 76100, Israel
    Handb Exp Pharmacol 216:405-19. 2013
    ..Finally, we discuss observations of a genetic link between Gaucher disease and Parkinson's disease and discuss how this link has stimulated research into the basic biology of the previously underappreciated glycosphingolipid, GlcCer...
  65. ncbi request reprint Upstream of growth and differentiation factor 1 (uog1), a mammalian homolog of the yeast longevity assurance gene 1 (LAG1), regulates N-stearoyl-sphinganine (C18-(dihydro)ceramide) synthesis in a fumonisin B1-independent manner in mammalian cells
    Krishnan Venkataraman
    Department of Biological Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 277:35642-9. 2002
    ....
  66. ncbi request reprint Nerve growth factor-induced p75-mediated death of cultured hippocampal neurons is age-dependent and transduced through ceramide generated by neutral sphingomyelinase
    Adi B Brann
    Department of Biological Chemistry, Weizmann Institute of Science, 76100 Rehovot, Israel
    J Biol Chem 277:9812-8. 2002
    ..These data indicate an initiating role of ceramide generated by neutral sphingomyelinase in the diverse neuronal responses induced by binding of neurotrophins to p75...
  67. ncbi request reprint Death-associated protein (DAP) kinase plays a central role in ceramide-induced apoptosis in cultured hippocampal neurons
    Dori Pelled
    Department of Biological Chemistry, Department of Molecular Genetics, and Department of Organic Chemistry, Weizmann Institute of Science, Rehovot 76100, Israel
    J Biol Chem 277:1957-61. 2002
    ..Together, these data demonstrate that DAP kinase plays a central role in ceramide-induced cell death in neurons, but the pathway in which DAP kinase is involved is not the only one via which ceramide can induce apoptosis...
  68. ncbi request reprint Sphingolipids are required for the stable membrane association of glycosylphosphatidylinositol-anchored proteins in yeast
    Reika Watanabe
    Biozentrum of the University of Basel, Klingelbergstrasse 70, Basel 4056, Switzerland
    J Biol Chem 277:49538-44. 2002
    ..They could act either by direct involvement as membrane components or as substrates for the remodeling of GPI lipid moieties...
  69. ncbi request reprint Synthesis of homoceramides, novel ceramide analogues, and their lack of effect on the growth of hippocampal neurons
    Steven De Jonghe
    Ghent University, Faculty of Pharmaceutical Sciences, Laboratory of Medicinal Chemistry, Harelbekestraat 72, 9000 Gent, Belgium
    J Org Chem 67:988-96. 2002
    ..Unfortunately, none of the tested compounds showed any biological activity due to their lack of metabolism to glucosylhomoceramide...
  70. ncbi request reprint Synthesis and biological evaluation of novel PDMP analogues
    Ulrik Hillaert
    Laboratory for Medicinal Chemistry, Faculty of Pharmaceutical Sciences, Ghent University, Ghent 9000, Belgium
    Bioorg Med Chem 14:5273-84. 2006
    ..Biological evaluation, both in vitro on rat liver Golgi fractions as well as in HEK-293 and COS-7 cells, revealed two lead compounds with comparable inhibitory potency as PDMP, which could be elaborated to more potent inhibitors...
  71. ncbi request reprint Cell biology: taxi service for lipids
    Anthony H Futerman
    Nature 449:35-7. 2007
  72. ncbi request reprint (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
    Junxia Min
    Division of Biological Sciences, 303 Tucker Hall, University of Missouri, Columbia, MO 65203, USA
    Mol Cancer Res 5:801-12. 2007
    ..The data suggest that the enzymes of the sphingolipid metabolic pathway can be manipulated to improve sensitivity to the widely used drug cisplatin...
  73. ncbi request reprint Production of glucocerebrosidase with terminal mannose glycans for enzyme replacement therapy of Gaucher's disease using a plant cell system
    Yoseph Shaaltiel
    Protalix Biotherapeutics, 2 Snunit Street, Science Park, Carmiel 20100, Israel
    Plant Biotechnol J 5:579-90. 2007
    ..prGCD is currently undergoing clinical studies, and may offer a new and alternative therapeutic option for Gaucher's disease...