Lysosomal lipid storage diseases

Cold Spring Harbor Perspectives in Biology

Volumn 3, Issue 6, 2011, Pages 1-19

  Schulze, Heike ^a   Sandhoff, Konrad ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; SPHINGOLIPID;

BIOLOGICAL MODEL; CHEMISTRY; ENDOCYTOSIS; HUMAN; INTRACELLULAR MEMBRANE; LIPID METABOLISM; LIPIDOSIS; LYSOSOME; LYSOSOME STORAGE DISEASE; METABOLISM; PATHOLOGY; PHYSIOLOGY; REVIEW; TRANSPORT AT THE CELLULAR LEVEL;

BIOLOGICAL TRANSPORT; CARRIER PROTEINS; ENDOCYTOSIS; HUMANS; INTRACELLULAR MEMBRANES; LIPID METABOLISM; LIPIDOSES; LYSOSOMAL STORAGE DISEASES; LYSOSOMES; MODELS, BIOLOGICAL; SPHINGOLIPIDS;

EID: 84860877959     PISSN: None     EISSN: 19430264     Source Type: Journal    
DOI: 10.1101/cshperspect.a004804     Document Type: Article

References (152)

1. Abdul-Hammed M, Breiden B, Adebayo MA, Babalola JA, Schwarzmann G, Sandhoff K. 2010. The roles of endosomal membrane lipids and NPC2 in cholesterol transfer and membrane fusion. J Lipid Res 51: 1747-60.
2. Alattia JR, Shaw JE, Yip CM, Privé GG. 2007. Molecular imaging of membrane interfaces reveals mode of β-glucosidase activation by saposin C. Proc Natl Acad Sci 104: 17394-17399.
3. Amidon B, Brown A, Waite M. 1996. Transacylase phospholipases in the synthesis of bis(monoacylglycero)phosphate. Biochemistry 35: 13995-14002.
4. Assmann G, Seedorf U. 2001. Acid lipase deficiency: Wolman disease and cholesteryl ester storage disease. In The metabolic and molecular bases of inherited disease (ed. C.R. Scriver, et al.), pp. 3551-3572. McGraw-Hill, New York.
5. Aslanidis C, Ries S, Fehringer P, Büchler C, Klima H, Schmitz G. 1996. Genetic and biochemical evidence that CESD andWolman disease are distinguished by residual lysosomal acid lipase activity. Genomics 33: 85-93.
6. Barton NW, Brady RO, Dambrosia JM, Di Bisceglie AM, Doppelt SH, Hill SC, Mankin HJ, Murray GJ, Parker RI, Argoff CE, et al. 1991. Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 324: 1464-1470.
7. Barton NW, Furbish FS, Murray GJ, Garfield M, Brady RO. 1990. Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci 87: 1913-1916.
8. Bejaoui K, Uchida Y, Yasuda S, Ho M, Nishijima M, Brown RHJR, Holleran WM, Hanada K. 2002. Hereditary sensory neuropathy type 1 mutations confer dominant negative effects on serine palmitoyltransferase, critical for sphingolipid synthesis. J Clin Invest 110: 1301-1308.
9. Bernardo K, Hurwitz R, Zenk T, Desnick RJ, Ferlinz K, Schuchman EH, Sandhoff K. 1995. Purification, characterization, biosynthesis of human acid ceramidase. J Biol Chem 270: 11098-11102.
10. Beutler E, Grabowski GA. 2001. Gaucher Disease. In The metabolic and molecular bases of inherited disease, 8th ed. (ed. C. Scriver, et al.), pp. 3635-3668. McGraw-Hill, New York.
11. Bi X, Liao G. 2010. Cholesterol in Niemann-Pick Type C disease. Subcell Biochem 51: 319-35.
12. Biffi A, Capotondo A, Fasano S, del Carro U, Marchesini S, Azuma H, Malaguti MC, Amadio S, Brambilla R, Grompe M, et al. 2006. Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice. J Clin Invest 116: 3070-3082.
13. Bradova V, Smid F, Ulrich-Bott B, RoggendorfW, Paton BC, Harzer K. 1993. Prosaposin deficiency: Further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies ultrastructure of the skin in this generalized sphingolipid storage disease. Hum Genet 92: 143-152.
14. Brady RO. 2006. Enzyme replacement for lysosomal diseases. Annu Rev Med 57: 28-296.
15. Brotherus J, Renkonen O. 1977. Subcellular distributions of lipids in cultured BHK cells: Evidence for the enrichment of lysobisphosphatidic acid neutral lipids in lysosomes. J Lipid Res 18: 191-202.
16. Brown M, Goldstein J. 1986. A receptor-mediated pathway for cholesterol homeostasis. Science 232: 34-47.
17. Burkhardt JK, Hüttler S, Klein A, MöbiusW, Habermann A, Griffiths G, Sandhoff K. 1997. Accumulation of sphingolipids in SAP-precursor (prosaposin)-deficient fibroblasts occurs as intralysosomal membrane structures and can be completely reversed by treatment with human SAP-precursor. Eur J Cell Biol 73: 10-18.
18. Cachó n-González MB, Wang SZ, Lynch A, Ziegler R, Cheng SH, Cox TM. 2006. Effective gene therapy in an authentic model of Tay-Sachs-related diseases. Proc Natl Acad Sci 103: 10373-10378.
19. Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, et al. 1997. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277: 228-231.
20. Chojnacki T, Dallner G. 1988. The biological role of dolichol. Biochem J 251: 1-9.
21. Ciaffoni F, Salvioli R, Tatti M, Arancia G, Crateri P, Vaccaro AM. 2001. Saposin D solubilizes anionic phospholipidcontaining membranes. J Biol Chem 276: 31583-31589.
22. Conzelmann E, Sandhoff K. 1979. AB variant of infantile GM2 gangliosidosis: Deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 glycolipid GA2. Proc Natl Acad Sci 75: 3979-3983.
23. Conzelmann E, Sandhoff K. 1983-1984. Partial enzyme deficiencies: Residual activities and the development of neurological disorders. Dev Neurosci 6: 58-71.
24. Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA. 2001. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet 27: 309-312.
25. de Duve C. 2005. The lysosome turns fifty. Nat Cell Biol 7: 847-849.
26. Desnick RJ, Ioannou YA. 2001. α-Galactosidase a deficiency fabry disease. In The metabolic and molecular bases of inherited disease, 8th ed. (ed. C.R. Scriver, et al.), pp. 3733-3774. McGraw-Hill, New York.
27. Dierks T, Dickmanns A, Preusser-Kunze A, Schmidt B, Mariappan M, von Figura K, Ficner R, Rudolph MG. 2005. Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme. Cell 121: 541-552.
28. Dong XP, Cheng X, Mills E, Delling M, Wang F, Kurz T, Xu H. 2008. The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel. Nature 455: 992-996.
29. Du H, Cameron TL, Garger SJ, Pogue GP, HammLA, White E, Hanley KM, Grabowski GA. 2008. Wolman disease/cholesteryl ester storage disease: Efficacy of plant-produced human lysosomal acid lipase in mice. J Lipid Res 49: 1646-1657.
30. Du H, Schiavi S, Levine M, Mishra J, Heur M, Grabowski GA. 2001. Enzyme therapy for lysosomal acid lipase deficiency in the mouse. Hum Mol Genet 16: 1639-1648.
31. Elliot-Smith E, SpeakAO, Lloyd-Evans E, SmithDA, van der Spoel AC, Jeyakumar M, ButtersTD, Dwek RA, D'Azzo A, Platt FM. 2008. Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis. Molec Genet Metab 94: 204-211.
32. Eliyahu E, Park JH, Shtraizent N, He X, Schuchman EH. 2007. Acid ceramidase is a novel factor required for early embryo survival. FASEB J 21: 1403-1409.
33. Eliyahu E, Shtraizent N, Martinuzzi K, Barritt J, He X, Wei H, Chaubal S, Copperman AB, Schuchman EH. 2010. Acid ceramidase improves the quality of oocytes and embryos and the outcome of in vitro fertilization. FASEB J 24: 1229-1238.
34. Elstein D, Hollak C, Aerts JM, van Weely S, Maas M, Cox TM, Lachmann RH, Hrebicek M, Platt FM, Butters TD, et al. 2004. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Meta Dis 27: 757-766.
35. Enquist IB, Nilsson E, Ooka A, Månsson JE, Olsson K, Ehinger M, Brady RO, Richter J, Karlsson S. 2006. Effective cell and gene therapy in a murine model of Gaucher disease. Proc Natl Acad Sci 103: 13819-13824.
36. Eskelinen EL, Tanaka Y, Saftig P. 2003. At the acidic edge: Emerging functions for lysosomal membrane proteins. Trends Cell Biol 13: 137-145.
37. Fan JQ. 2008. A counterintuitive approach to treat enzyme deficiencies: Use of enzyme inhibitors for restoring mutant enzyme activity. Biol Chem 389: 1-11.
38. Ferlinz K, Hurwitz R, Sandhoff K. 1991. Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A. Biochem Biophys Res Commun 179: 1187-1191.
39. Ferlinz K, Hurwitz R, Weiler M, Suzuki K, Sandhoff K, Vanier MT. 1995. Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. Am J Hum Genet 56: 1343-1349.
40. Filho JAF, Shapiro BE. 2004. Tay Sachs disease. Arch Neurol 61: 466-468.
41. Fürst W, Sandhoff K. 1992. Activator proteins topology of lysosomalsphingolipid catabolism. Biochim. Biophys Acta 1126: 1-16.
42. Fürst W, Machleidt W, Sandhoff K. 1988. The precursor of sulfatide activator protein is processed to three different proteins. Biol Chem Hoppe Seyler 369: 317-328.
43. Fujita N, Suzuki K, Vanier MT, Popko B, Maeda N, Klein A, Henseler M, Sandhoff K, Nakayasu H. 1996. Targeted disruption of the mouse sphingolipid activator protein gene: A complex phenotype, including severe leukodystrophy and wide-spread storage of multiple sphingolipids. Hum Mol Genet 5: 711-725.
44. Gallala HD, Breiden B, Sandhoff K. 2011. Regulation of the NPC2 protein-mediated cholesterol trafficking by membrane lipids. J Neurochem 116: 702-707.
45. Gieselmann V. 2005. What can cell biology tell us about heterogeneity in lysosomal storage diseases? Acta Paediatr Suppl 94: 80-86.
46. Gieselmann V. 2008. Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. Acta Paediatr Suppl 97: 15-21.
47. Gillard BK, Clement RG, Marcus DM. 1998. Variations among cell lines in the synthesis of sphingolipids in de novo and recycling pathways. Glycobiology 8: 885-890.
48. Gramatges MM, Dvorak CC, Regula DP, Enns GM, Weinberg K, Agarwal R. 2009. Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity. Bone Marrow Transplant 44: 449-450.
49. Gravel RA, Kaback MM, Proia RL, Sandhoff K, Suzuki K, Suzuki K. 2001. The GM2 Gangliosidoses. In The metabolic and molecular bases of inherited disease, 8th ed. Vol. III (ed. C.R. Scriver, et al.), pp. 3827-3876. McGraw-Hill, New York.
50. Hahn CN, del PilarMartin M, Schroder M, VanierMT, Hara Y, Suzuki K, D'Azzo A. 1997. Generalized CNS disease massive GM1-ganglioside accumulation in mice defective in lysosomal acid β-galactosidase. Hum Mol Genet 6: 205-211.
51. Hanada K, Kumagai K, Yasuda S, Miura Y, Kawano M, Fukasawa M, Nishijima M. 2003. Molecular machinery for non-vesicular trafficking of ceramide. Nature 426: 803-809.
52. Harzer K, Paton BC, Poulos A, Kustermann-Kuhn B, RoggendorfW, Grisar T, Popp M. 1989. Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient his fetal sibling: Biochemical signs of combined sphingolipidoses. Eur J Pediatr 149: 31-39.
53. Heare T, Alp NJ, Priestman DA, Kulkarni AB, Qasba P, Butters TD, Dwek RA, Clarke K, Channon KM, Platt FM. 2007. Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment. J Inherit Metab Dis 30: 79-87.
54. Hers HG. 1963. α-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). Biochem Jl 86: 11-16.
55. Hess B, Saftig P, Hartmann D, Coenen R, Lullmann-Rauch R, Goebel HH, Evers M, von Figura K, D'Hooge R, Nagels G, et al. 1996. Phenotype of arylsulfatase A-deficient mice: Relationship to human metachromatic leukodystrophy. Proc Natl Acad Sci 93: 14821-14826.
56. Ho MW, O'Brien JS. 1971. Gauchers disease: Deficiency of "acid"-glucosidase and reconstitution of enzyme activity in vitro. Proc Natl Acad Sci 68: 2810-2813.
57. Ikonen E. 2008. Cellular cholesterol trafficking and compartmentalization. Nat Rev Mol Cell Biol 9: 125-138.
58. Infante RE, Wang ML, Radhakrishnan A, Kwon HJ, Brown MS, Goldstein JL. 2008. NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes. Proc Natl Acad Sci 105: 15287-15292.
59. Jeyakumar M, Williams I, SmithD, Cox TM, Platt FM. 2009. Critical role of iron in the pathogenesis of the murine gangliosidoses. Neurobiol Di 34: 406-416.
60. Jeyakumar M, Butters TD, Cortina-Borja M, Hunnam V, Proia RL, Perry VH, Dwek RA, Platt FM. 1999. Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin, Proc Natl Acad Sci 96: 6388-6393.
61. Jmoudiak M, Futerman AH. 2005. Gaucher disease: pathological mechanisms and modern management. Br J Haematol 129: 178-188.
62. Karten B, Peake KB, Vance JE. 2009. Mechanisms and consequences of impaired lipid trafficking in Niemann-Pick type C1-deficient mammalian cells. Biochim Biophys Acta 1791: 659-670.
63. Karten B, Vance DE, Campenot RB, Vance JE. 2002. Cholesterol accumulates in cell bodies, but is decreased in distal axons of Niemann-Pick C1-deficient neurons. J Neurochem 83: 1154-1163.
64. Karten B, Vance DE, Campenot RB, Vance JE. 2003. Trafficking of cholesterol from cell bodies to distal axons in Niemann Pick C1-deficient neurons. J Biol Chem 278: 4168-4875.
65. Kirkegaard T, Roth AG, Petersen NH, Mahalka AK, Olsen OD, Moilanen I, Zylicz A, Knudsen J, Sandhoff K, Arenz C, et al. 2010. Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. Nature 463: 549-553.
66. Klein A, Henseler M, Klein C, Suzuki K, Harzer K, Sandhoff K. 1994. Sphingolipid activator protein D (sap-D) stimulates the lysosomal degradation of ceramide in vivo. Biochem Biophys Res Commun 200: 1440-1448.
67. Kobayashi T, Beuchat MH, Lindsay M, Frias S, Palmiter RD, Sakuraba H, Parton RG, Gruenberg J. 1999. Late endosomal membranes rich in lysobisphosphatidic acid regulate cholesterol transport. Nat Cell Biol 1: 113-118.
68. Kobayashi T, Stang E, Fang KS, de Moerloose P, Parton RG, Gruenberg J. 1998. A lipid associated with the antiphospholipid syndrome regulates endosome structure function. Nature 392: 193-197.
69. Koch J, Gärtner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K. 1996. Molecular cloning characterization of a full-length complementary DNA encoding human acid ceramidase. Identification of the first molecular lesion causing Farber disease. J Biol Chem 271: 33110-33115.
70. Kölzer M, Werth N, Sandhoff K. 2004. Interaction of acid sphingomyelinase and lipid bilayers in the presence of tricyclic antidepressant desipramine. FEBS Lett 559: 96-98.
71. Kolter T, Sandhoff K. 1999. Sphingolipids-Their metabolic pathways the pathobiochemistry of neurodegenerative diseases. Angew Chem In Ed 38: 1532-1568.
72. Kolter T, Sandhoff K. 2005. Principles of lysosomal membrane digestion: stimulation of sphingolipid degradation by sphingolipid activator proteins and anionic lysosomal lipids. Annu Rev Cell Dev Biol 21: 81-103.
73. Kolter T, Sandhoff K. 2006. Sphingolipid metabolism diseases. Biochim Biophys Acta 1758: 2057-2079.
74. Kolter T, Sandhoff K. 2010. Lysosomal degradation of membrane lipids. FEBS Lett 584: 1700-1712.
75. Komatsu M, Waguri S, Chiba T, Murata S, Iwata J, Tanida I, Ueno T, Koike M, Uchiyama Y, Kominami E, et al. 2006. Loss of autophagy in the central nervous system causes neurodegeneration in mice. Nature 441: 880-884.
76. Krivit W, Peters C, Shapiro EG. 1999. 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 Sly syndromes, and Gaucher disease type III. Curr Opin Neurol 12: 167-176.
77. KrivitW, Peters C, Dusenbery K, Ben-Yoseph Y, Ramsay NK, Wagner JE, Anderson R. 2000. Wolman disease successfully treated by bone marrow transplantation. Bone Marrow Transplant 26: 567-570.
78. Kurz T, Terman A, Gustafsson B, BrunkUT. 2008. Lysosomes in iron metabolism, ageing and apoptosis. Histochem Cell Biol 129: 389-406.
79. Kytzia HJ, Sandhoff K. 1985. Evidence for two different active sites on human β-hexosaminidase A. Interaction of GM2 activator protein with β-hexosaminidase A. J Biol Chem 260: 7568-7572.
80. Lachmann RH, Platt FM. 2001. Substrate reduction therapy for glycosphingolipid storage disorders. Expert Opin Investig Drugs 10: 455-466.
81. Lansmann S, Schuette CG, Bartelsen O, Hoernschemeyer J, Linke T, Weisgerber J, Sandhoff K. 2003. Human acid sphingomyelinase. Eur J Biochem 270: 1076-1088.
82. LaPlante JM, Ye P, Quinn SJ, Goldin E, Brown EM, Slaugenhaupt SA, Vassilev PM. 2002. Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. FEBS Lett 532: 183-187.
83. Leinekugel P, Michel S, Conzelmann E, Sandhoff K. 1992. Quantitative correlation between the residual activity of β-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. Hum Genet 88: 513-523.
84. Linhart A, Elliot PM. 2007. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 93: 528-535.
85. Liu K, Commens C, Choong R, Jaworski R. 1988. Collodion babies with Gaucher's disease. Arch Dis Child 63: 854-856.
86. Lloyd-Evans E, Platt FM. 2010. Lipids on trial: The search for the offending metabolite in Niemann-Pick type C disease. Traffic 11: 419-428.
87. Lloyd-Evans E, Morgan AJ, He X, SmithDA, Elliot-Smith E, Sillence DJ, Churchill GC, Schuchman EH, Galione A, Platt FM. 2008. Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med 14: 1247-1255.
88. Locatelli-Hoops S, Remmel N, Klingenstein R, Breiden B, Rossocha M, Schoeniger M, Koenigs C, Saenger W, Sandhoff K. 2006. Saposin A mobilizes lipids from low cholesterol and high bis(monoacylglycerol)phosphatecontaining membranes: Patient variant Saposin A lacks lipid extraction capacity. J Biol Chem 281: 32451-32460.
89. Matzner U, Herbst E, Hedayati KK, Lüllmann-Rauch L, Wessig C, Schröder S, Eistrup C, Möller C, Fogh J, Gieselmann V. 2005. Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Hum Mol Genet 14: 1139-1152.
90. Matsuda J, Kido M, Tadano-Aritomi K, Ishizuka I, Tominaga K, Toida K, Takeda E, Suzuki K, Kuroda Y. 2004. 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. HumMol Genet 13: 2709-2723.
91. Matsuda J, Vanier MT, Saito Y, Tohyama J, Suzuki K. 2001. A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a lateonset, chronic form of globoid cell leukodystrophy in the mouse. Hum Mol Gene 10: 1191-1199.
92. Matsuzawa Y, Hostetler KY. 1979. Degradation of bis(monoacylglycero) phosphate by an acid phosphodiesterase in rat liver lysosomes. J Biol Chem 254: 5997-6001.
93. Merrill AH Jr. 2002. De novo sphingolipid biosynthesis: A necessary, but dangerous pathway. J Biol Chem 277: 25843-25846.
94. Mehl E, Jatzkewitz H. 1964. A cerebrosidesulfatase from swine kidney. Hoppe Seylers Z Physiol Chem 339: 260-276.
95. Mehl E, Jatzkewitz H. 1965. Evidence for the genetic block in metachromatic leukodystrophy (ML). Biochem biophys Res Commun 19: 407-411.
96. Meivar-Levy I, Horowitz M, Futerman AH. 1994. Analysis of glucocerebrosidase activity using N-(1-[14C]hexanoyl)-d-erythroglucosylsphingosine demonstrates a correlation between levels of residual enzyme activity the type of Gaucher disease. Biochem J 303: 377-382.
97. Möbius W, van Donselaar E, Ohno-Iwashita Y, Shimada Y, Heijnen HF, Slot JW, Geuze HJ. 2003. Recycling compartments and the internal vesicles of multivesicular bodies harbor most of the cholesterol found in the endocytic pathway. Traffic 4: 222-231.
98. Naureckiene S, Sleat DE, Lackland H, Fensom A, VanierMT, Wattiaux R, Jadot M, Lobel P. 2000. Identification of HE1 as the second gene of Niemann-Pick C disease. Science 290: 2298-2301.
99. Neuenhofer S, Conzelmann E, Schwarzmann G, Egge H, Sandhoff K. 1986. Occurrence of lysoganglioside lyso-GM2 (II3-Neu5Ac-gangliotriaosylsphingosine) in GM2 gangliosidosis brain. Biol Chem Hoppe Seyler 367: 241-244.
100. Okino N, He X, Gatt S, Sandhoff K, Ito M, Schuchman EH. 2003. The reverse activity of human acid ceramidase. J Biol Chem 278: 29948-29953.
101. Pastores GM. 2009. Krabbe disease: An overview. Int J Clin Pharmacol Ther 47: 75-81.
102. Patterson MC, Vanier MT, Suzuki K, Morris JA, Carsteu E, Neufeld EB, et al. 2001. Niemann-Pick disease type C. A lipid trafficking disorder. In The metabolic and molecular basis of inherited disease, Vol. II, 8th ed. (ed. C.R. Scriver, et al.), pp. 3611-3633. McGraw-Hill, New York.
103. 2+-ATPase in a mouse model of Sandhoff disease and prevention by treatment with N-butyldeoxynojirimycin. J Biol Chem 278: 29496-29501.
104. Penno A, Reilly MM, Houlden H, Laurá M, Rentsch K, Niederkofler V, Stoeckli ET, Nicholson G, Eichler F, Brown RH Jr, et al. 2010. Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem 285: 11178-11187.
105. Platt FM, Butters TD. 2004. Inhibition of substrate synthesis: A pharmacological approach for glycosphingolipid storage disease therapy. In Lysosomal disorders of the brain (ed. F.M. Platt, et al.), pp. 381-408. Oxford University Press, UK.
106. Platt F, Lachmann RH. 2009. Treating lysosomal storage disorders: Current practice and future prospects. Biochem Biophys Acta 1793: 737-745.
107. Platt FM, Neises GR, Dwek RA, Butters TD. 1994. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem 269: 8362-8365.
108. Platt FM, Neises GR, Reinkensmeier G, Townsend MJ, Perry VH, Proia RL, Winchester B, Dwek RA, ButtersTD. 1997. Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science 276: 428-431.
109. Remmel N, Locatelli-Hoops S, Breiden B, Schwarzmann G, Sandhoff K. 2007. Saposin B mobilizes lipids from cholesterol-poor and bismonoacylglycero)phosphaterich membranes at acidic pH. Unglycosylated patient variant saposin B lacks lipid-extraction capacity. FEBS J 274: 3405-3420.
110. Rodriguez-Lafrasse C, Rousson R, Pentchev PG, Louisot P, Vanier MT. 1994. Free sphingoid bases in tissues from patients with type C Niemann-Pick disease and other lysosomal storage disorders. Biochim Biophys Acta 1226: 138-144.
111. Rosengren B, Fredman P, Mansson JE, Svennerholm L. 1989. Lysosulfatide (galactosylsphingosine-3-O-sulfate) from metachromatic leukodystrophy and normal human brain. J Neurochem 52: 1035-1041.
112. Ruivo R, Anne C, Sagné C, Gasnier B. 2009. Molecular and cellular basis of lysosomal transmembrane protein dysfunction. Biochim Biophys Acta 1793: 636-649.
113. Rutsch F, Gailus S, Miousse IR, Suormala T, Sagné C, Toliat MR, Nürnberg G, Wittkampf T, Buers I, Sharifi A, et al. 2009. Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism. Nat Genet 41: 234-239.
114. Sagné C, Gasnier B. 2008. Molecular physiology and pathophysiology of lysosomal membrane transporters. J Inherit Metab Dis 31: 258-266.
115. Saksena S, Ji S, Chu T, Emr SD. 2007. ESCRTing proteins in the endocytic pathway. Trends Biochem Sci 23: 519-547.
116. Sandhoff K. 1969. Variation of β-N-acetylhexosaminidasepattern in Tay-Sachs disease. FEBS Lett 4: 351-354.
117. Sandhoff K, Kolter T, Harzer K. 2001. Sphingolipid activator proteins. In The metabolic and molecular bases of inherited disease, 8th ed. (ed. C.R. Scriver, et al.), pp 3371-3388. McGraw-Hill, New York.
118. Sandhoff K, Harzer K, Wassle W, Jatzkewitz H. 1971. Enzyme alterations lipid storage in three variants of Tay-Sachs disease. J Neurochem 18: 2469-2489.
119. Sango K, Yamanaka S, Hoffmann A, Okuda Y, Grinberg A, Westphal H, McDonald MP, Crawley JN, Sandhoff K, Suzuki K, et al. 1995. Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nat Genet 11: 170-176.
120. Sano R, Trindade VM, Tessitore A, D'Azzo A, Vieira MB, Giugliani R, Coelho JC. 2005. G(M1)-ganglioside degradation and biosynthesis in human and murine G(M1)-gangliosidosis. Clin Chim Acta 354: 131-139.
121. Sarmientos F, Schwarzmann G, Sandhoff K. 1986. Specificity of human glucosylceramide β-glucosidase towards synthetic glucosylsphingolipids inserted into liposomes. Kinetic studies in a detergent-free assay system. Eur J Biochem 160: 527-535.
122. Schlote W, Harzer K, Christomanou H, Paton BC, Kustermann-Kuhn B, Schmid B, Seeger J, Beudt U, Schuster I, Langenbeck U. 1991. Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical, immunological study. Eur J Pediatr 150: 584-591.
123. Schnabel D, Schröder M, Sandhoff K. 1991. Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. FEBS Lett 284: 57-59.
124. Schnabel D, Schröder M, FürstW, Klein A, Hurwitz R, Zenk T, Weber J, Harzer K, Paton BC, Poulos A. 1992. Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. J Biol Chem 267: 3312-3315.
125. Schuchman EH, Desnick RJ. 2001. Niemann-Pick disease types AB.: Acid sphingomyelinasedeficiencies. In The metabolic and molecular bases of inherited disease, 8th ed. (ed. C.R. Scriver, et al.), pp. 3589-3610. McGraw-Hill, New York.
126. Shtraizent N, Eliyahu E, Park JH, He X, Shalgi R, Schuchman EH. 2008. Autoproteolytic cleavage and activation of human acid ceramidase. J Biol Chem 283: 11253-11259.
127. Simons K, Gruenberg J. 2000. Jamming the endosomal system: lipid rafts and lysosomal storage diseases. Trends Cell Biol 10: 459-462.
128. Simpson MA, Coss H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, et al. 2004. Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase. Nat Genet 36: 1225-1229.
129. Storch J, Xu Z. 2009. Niemann-Pick C2 (NPC2) and intracellular cholesterol trafficking. Biochim Biophys Acta 1791: 671-678.
130. Suzuki K. 2003. Globoid cell leukodystrophy (Krabbés disease): uUpdate. J Child Neurol 18: 595-603.
131. Suzuki K, Chen GC. 1968. GM1-gangliosidosis (generalized gangliosidosis) morphology chemical pathology. Pathol Eur 3: 389-408.
132. Suzuki K, Suzuki Y. 1970. Globoid cell leucodystrophy (Krabbe's disease): Deficiency of galactocerebroside β-galactosidase. Proc Natl Acad Sci 66: 302-309.
133. Suzuki Y, Oshima A, Nanba E. 2001. β-galactosidase deficiency (β-galactosidosis): GM1 gangliosidosis and morquio B disease. In The metabolic and molecular bases of inherited disease, 8th ed. (ed. C.R. Scriver, et al.), pp. 3775-3809. McGraw-Hill, New York.
134. Tafesse FG, Huitema K, Hermansson M, van der Poel S, van den Dikkenberg J, Uphoff A, Somerhariu P, Holthuis JC. 2007. Both sphingomyelin synthases SMS1 and SMS2 are required for sphingomyelin homeostasis and growth in human HeLa cells. J Biol Chem 282: 17537-17547.
135. Takamura A, Higaki K, Kajimaki K, Otsuka S, Ninomiya H, Matsuda J, Ohno K, Suzuki Y, Nanba E. 2008. Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis. Biochem Biophys Res Commun 367: 616-622.
136. Tan MA, Fuller M, Zabidi-Hussin ZA, Hopwood JJ, Meikle PJ. 2010. Biochemical profiling to predict disease severity in metachromatic leukodystrophy. Mol Genet Metab 99: 142-148.
137. Tanaka A, Ohno K, Sandhoff K, Maire I, Kolodny EH, Brown A, Suzuki K. 1990. GM2-gangliosidosis B1 variant: Analysis of β-hexosaminidase α gene abnormalities in seven patients. Am J Hum Genet 46: 329-339.
138. TayW. 1881. Symmetrical changes in the region of the yellow spot in each eye of an infant. Transactions of the Ophthalmological Society 1: 55-57.
139. Tessitore A, del PMartin M, Sano R, MaY, Mann L, Ingrassia A, Laywell ED, Steindler DA, Hendershot LM, D'Azzo A. 2004. GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis. Mol Cell 15: 753-766.
140. Tettamanti G, Bassi R, Viani P, Riboni L. 2003. Salvage pathways in glycosphingolipid metabolism. Biochimie 85: 423-437.
141. Tint GS, Pentchev P, Xu G, Batta AK, Shefer S, Salen G, Honda A. 1998. Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann-Pick type C phenotype. J Inherit Metab Dis 21: 853-863.
142. te VruchteD, Lloyd-Evans E, Veldman RJ, Neville DC, Dwek RA, Platt FM, van Blitterswijk WJ, Sillence DJ. 2004. Accumulation of glycosphingolipids in Niemann-Pick C disease disrupts endosomal transport. J Biol Chem 279: 26167-26175.
143. Tietge UJ, Sun G, Czarnecki S, Yu Q, Lohse P, Du H, Grabowski GA, Glick JM, Rader DJ. 2001. Phenotypic correction of lipid storage and growth arrest in wolman disease fibroblasts by gene transfer of lysosomal acid lipase. Hum Gene Ther 12: 279-289.
144. Tolar J, Petryk A, Khan K, Bjoraker KJ, Jessurun J, Dolan M, Kivisto T, Charnas L, Shapiro EG, Orchard PJ. 2009. Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease. Bone Marrow Transplant 43: 21-27.
145. Wilkening G, Linke T, Uhlhorn-Dierks G, Sandhoff K. 2000. Degradation of membrane-bound ganglioside GM1, stimulation by bis(monoacylglycero) phosphate the activator proteins SAP-B GM2-AP. J Biol Chem 275: 35814-35819.
146. Wollert T, Hurley JH. 2010. Molecular mechanism of multivesicular body biogenesis by ESCRT complexes. Nature 464: 864-869.
147. Zarate YA, Hopkin RJ. 2008. Fabry's disease. Lancet 372: 1427-1435.
148. Zervas M, Dobrenis K, Walkley SU. 2001a. Neurons in Niemann-Pick disease type C accumulate gangliosides as well as unesterified cholesterol and undergo dendritic and axonal alterations. J Neuropathol Exp Neurol 60: 49-64.
149. Zervas M, Somers KL, Thrall MA, Walkley SU. 2001b. Critical role for glycosphingolipids inNiemann-Pick disease type C. Curr Biol 11: 1283-1287.
150. Zhang AS, Sheftel AD, Ponka P. 2005. Intracellular kinetics of iron in reticulocytes: evidence for endosome involvement in iron targeting to mitochondria. Blood 105: 368-375.
151. Zhang R, Coleman T, Langmade SJ, Scherrer DE, Lane L, Lanier MH, Feng C, Sands MS, Schaffer JE, Semenkovich CF, et al. 2008. Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking. J Clin Invest 118: 2281-2290.
152. Zschoche A, Fürst W, Schwarzmann G, Sanhoff K. 1994. Hydrolysis of lactosylceramide by human galactosylceramidase GM1-β-galactosidase in a detergent-free system its stimulation by sphingolipid activator proteins, sap-B sap-C. Activator proteins stimulate lactosylceramide hydrolysis. Eur J Biochem 222: 83-90.