Treating lysosomal storage disorders: Current practice and future prospects

Biochimica et Biophysica Acta - Molecular Cell Research

Volumn 1793, Issue 4, 2009, Pages 737-745

  Platt, Frances M ^a   Lachmann, Robin H ^b  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

Author keywords

Enzyme replacement; Gene therapy; Lysosomal storage disease; Neurodegeneration; Substrate reduction

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; DILTIAZEM; GLYCOGEN; GLYCOPROTEIN; GLYCOSAMINOGLYCAN; IMIGLUCERASE; LIPID; MIGLUSTAT; SOMATOMEDIN B RECEPTOR; VERAPAMIL;

BONE MARROW TRANSPLANTATION; CENTRAL NERVOUS SYSTEM MALFORMATION; CLINICAL PRACTICE; CLINICAL TRIAL; DANON DISEASE; ENZYME REPLACEMENT; FABRY DISEASE; GAUCHER DISEASE; GENE THERAPY; GLOMERULUS FILTRATION RATE; HUMAN; HUNTER SYNDROME; HYPERTENSION; LYSOSOME; LYSOSOME STORAGE DISEASE; MEDICAL ETHICS; NERVE DEGENERATION; NEURAL STEM CELL TRANSPLANTATION; NONHUMAN; PRIORITY JOURNAL; REVIEW; STEM CELL TRANSPLANTATION;

CENTRAL NERVOUS SYSTEM DISEASES; ENZYME STABILITY; GENE THERAPY; HUMANS; LYSOSOMAL STORAGE DISEASES; MASS SCREENING;

EID: 62949184826     PISSN: 01674889     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbamcr.2008.08.009     Document Type: Review

References (96)

1. Meikle P.J., Hopwood J.J., Clague A.E., and Carey W.F. Prevalence of lysosomal storage disorders. Jama 281 (1999) 249-254
2. Winchester B. Primary defects in lysosomal enzymes. In: Platt F.M., and Walkley S.U. (Eds). Lysosomal Disorders of the Brain (2004), Oxford University Press, Oxford 81-130
3. Wraith J.E. Clinical aspects and diagnosis. In: Platt F.M., and Walkley S.U. (Eds). Lysosomal Disorders of the Brain (2004), Oxford University Press, Oxford 50-77
4. Platt F.M., and Walkley S.U. Lysosomal defects and storage. In: Platt F.M., and Walkley S.U. (Eds). Lysosomal Disorders of the Brain (2004), Oxford University Press, Oxford 32-49
5. Walkley S.U. Secondary accumulation of gangliosides in lysosomal storage disorders. Semin. Cell Dev. Biol. 15 (2004) 433-444
6. Wraith J.E. Lysosomal disorders. Semin. Neonatol. 7 (2002) 75-83
7. Winchester B., Vellodi A., and Young E. The molecular basis of lysosomal storage diseases and their treatment. Biochem. Soc. Trans. 28 (2000) 150-154
8. Beutler E., and Grabowski G.A. Gaucher Disease. In: Scriver C.R., Baudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Metabolic Disease. 8th ed. (2001), McGraw-Hill, New York 3635-3668
9. Wong K., Sidransky E., Verma A., Mixon T., Sandberg G.D., Wakefield L.K., Morrison A., Lwin A., Colegial C., Allman J.M., and Schiffmann R. Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol. Genet. Metab. 82 (2004) 192-207
10. Cox T.M. Gaucher disease: understanding the molecular pathogenesis of sphingolipidoses. J. Inherit. Metab. Dis. 24 Suppl. 2 (2001) 106-121 discussion 187-108
11. Lachmann R.H., Grant I.R., Halsall D., and Cox T.M. Twin pairs showing discordance of phenotype in adult Gaucher's disease. QJM 97 (2004) 199-204
12. Simons K., and Gruenberg J. Jamming the endosomal system: lipid rafts and lysosomal storage diseases. Trends Cell Biol. 10 (2000) 459-462
13. Futerman A.H., and van Meer G. The cell biology of lysosomal storage disorders. Nat. Rev., Mol. Cell Biol. 5 (2004) 554-565
14. Fuller M., Rozaklis T., Lovejoy M., Zarrinkalam K., Hopwood J.J., and Meikle P.J. Glucosylceramide accumulation is not confined to the lysosome in fibroblasts from patients with Gaucher disease. Molec. Genet. Metab. 93 (2008) 437-443
15. Pelled D., Lloyd-Evans E., Riebeling C., Jeyakumar M., Platt F.M., and Futerman A.H. 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. 278 (2003) 29496-29501
16. Chen C.S., Patterson M.C., Wheatley C.L., O'Brien J.F., and Pagano R.E. Broad screening test for sphingolipid-storage diseases. Lancet 354 (1999) 901-905
17. Pagano R.E., Puri V., Dominguez M., and Marks D.L. Membrane traffic in sphingolipid storage diseases. Traffic 1 (2000) 807-815
18. Lachmann R.H., te Vruchte D., Lloyd-Evans E., Reinkensmeier G., Sillence D.J., Fernandez-Guillen L., Dwek R.A., Butters T.D., Cox T.M., and Platt F.M. Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol. Dis. 16 (2004) 654-658
19. Hopwood J.J., Crawley A.C., and Taylor R.M. Spontaneous and engineered mammalian storage disease models. In: Platt F.M., and Walkley S.U. (Eds). Lysosomal Disorders of the Brain vol. 1 (2004), Oxford Univ. Press, Oxford 257-289
20. Jeyakumar M., Dwek R.A., Butters T.D., and Platt F.M. Storage solutions: treating lysosomal disorders of the brain. Nat. Rev. Neurosci. 6 (2005) 713-725
21. Jeyakumar M., Thomas R., Elliot-Smith E., Smith D.A., van der Spoel A.C., d'Azzo A., Perry V.H., Butters T.D., Dwek R.A., and Platt F.M. Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. Brain 126 (2003) 974-987
22. Wada R., Tifft C.J., and Proia R.L. Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation. Proc. Natl. Acad. Sci. U. S. A. 97 (2000) 10954-10959
23. Yamaguchi A., Katsuyama K., Nagahama K., Takai T., Aoki I., and Yamanaka S. Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses. J. Clin. Invest. 113 (2004) 200-208
24. Wu Y.P., and Proia R.L. Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 8425-8430
25. Jeyakumar M., Smith D.A., Williams I.M., Borja M.C., Neville D.C., Butters T.D., Dwek R.A., and Platt F.M. NSAIDs increase survival in the Sandhoff disease mouse: synergy with N-butyldeoxynojirimycin. Ann. Neurol. 56 (2004) 642-649
26. Hasilik A., and Lemansky P. Defects in lysosomal enzyme trafficking. In: Platt F.M., and Walkley S.U. (Eds). Lysosomal Disorders of the Brain (2004), Oxford Univ. Press, Oxford 141-169
27. Reczek D., Schwake M., Schroder J., Hughes H., Blanz J., Jin X., Brondyk W., Van Patten S., Edmunds T., and Saftig P. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell 131 (2007) 770-783
28. Neufeld E.F. Enzyme replacement therapy. In: Platt F.M., and Walkley S.U. (Eds). Lysosomal Disorders of the Brain (2004), Oxford University Press, Oxford 327-338
29. Krivit W., Peters C., and Shapiro E.G. 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 (1999) 167-176
30. Hoogerbrugge P.M., Brouwer O.F., Bordigoni P., Ringden O., Kapaun P., Ortega J.J., O'Meara A., Cornu G., Souillet G., Frappaz D., et al. Allogeneic bone marrow transplantation for lysosomal storage diseases. The European Group for Bone Marrow Transplantation. Lancet 345 (1995) 1398-1402 issn: 0140-6736
31. Souillet G., Guffon N., Maire I., Pujol M., Taylor P., Sevin F., Bleyzac N., Mulier C., Durin A., Kebaili K., Galambrun C., Bertrand Y., Froissart R., Dorche C., Gebuhrer L., Garin C., Berard J., and Guibaud P. Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant. 31 (2003) 1105-1117
32. Polgreen L.E., Tolar J., Plog M., Himes J.H., Orchard P.J., Whitley C.B., Miller B.S., and Petryk A. Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation. Bone Marrow Transplant. 41 (2008) 1005-1011
33. Lucke T., Das A.M., Hartmann H., Sykora K.W., Donnerstag F., Schmid-Ott G., and Grigull L. Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study. Dev. Med. Child Neurol. 49 (2007) 693-696
34. Escolar M.L., Poe M.D., Provenzale J.M., Richards K.C., Allison J., Wood S., Wenger D.A., Pietryga D., Wall D., Champagne M., Morse R., Krivit W., and Kurtzberg J. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N. Engl. J. Med. 352 (2005) 2069-2081
35. Lim Z.Y., Ho A.Y.L., Abrahams S., Fensom A., Aldouri M., Pagliuca A., Shaw C., and Mufti G.J. Sustained neurological improvement following reduced-intensity conditioning allogeneic haematopoietic stem cell transplantation for late-onset Krabbe disease. Bone Marrow Transplant. 41 (2008) 831-832
36. Boelens J.J. Trends in haematopoietic cell transplantation for inborn errors of metabolism. J. Inherit. Metab. Dis. 29 (2006) 413-420
37. Vellodi A., Young E., Cooper A., Lidchi V., Winchester B., and Wraith J.E. Long-term follow-up following bone marrow transplantation for Hunter disease. J. Inherit. Metab. Dis. 22 (1999) 638-648
38. Gorg M., Wilck W., Granitzny B., Suerken A., Lukacs Z., Xiaoqi D., Schulte-Markwort M., and Kohlschutter A. Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up. J. Child. Neurol. 22 (2007) 1139-1142
39. Kennedy D.W., and Abkowitz J.L. Kinetics of central nervous system microglial and macrophage engraftment: analysis using a transgenic bone marrow transplantation model. Blood 90 (1997) 986-993
40. Snyder E.Y., Daley G.Q., and Goodell M. Taking stock and planning for the next decade: realistic prospects for stem cell therapies for the nervous system. J. Neurosci. Res. 76 (2004) 157-168
41. Snyder E.Y., Taylor R.M., and Wolfe J.H. Neural progenitor cell engraftment corrects lysosomal storage throughout the MPS VII mouse brain. Nature 374 (1995) 367-370
42. Sidman R.L., Li J., Stewart G.R., Clarke J., Yang W., Snyder E.Y., and Shihabuddin L.S. Injection of mouse and human neural stem cells into neonatal Niemann-Pick A model mice. Brain Res. 1140 (2007) 195-204
43. Ahmad I., Hunter R.E., Flax J.D., Snyder E.Y., and Erickson R.P. Neural stem cell implantation extends life in Niemann-Pick C1 mice. J. Appl. Genet. 48 (2007) 269-272
44. Lee J.P., Jeyakumar M., Gonzalez R., Takahashi H., Lee P.J., Baek R.C., Clark D., Rose H., Fu G., Clarke J., McKercher S., Meerloo J., Muller F.J., Park K.I., Butters T.D., Dwek R.A., Schwartz P., Tong G., Wenger D., Lipton S.A., Seyfried T.N., Platt F.M., and Snyder E.Y. Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease. Nat. Med. 13 (2007) 439-447
45. Cedar S.H., Cooke J.A., Luo Z., Patel M.J., and Minger S.L. From embryos to embryonic stem cells: biopolitics and therapeutic potential. Reprod. Biomed. Online 13 (2006) 725-731
46. Brady R.O. Enzyme replacement for lysosomal diseases. Annu. Rev. Med. 57 (2006) 283-296
47. Barton N.W., Brady R.O., Dambrosia J.M., Di Bisceglie A.M., Doppelt S.H., Hill S.C., Mankin H.J., Murray G.J., Parker R.I., Argoff C.E., et al. Replacement therapy for inherited enzyme deficiency-macrophage-targeted glucocerebrosidase for Gaucher's disease. N. Engl. J. Med. 324 (1991) 1464-1470
48. Weinreb N.J., Charrow J., Andersson H.C., Kaplan P., Kolodny E.H., Mistry P., Pastores G., Rosenbloom B.E., Scott C.R., Wappner R.S., and Zimran A. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am. J. Med. 113 (2002) 112-119
49. Sims K.B., Pastores G.M., Weinreb N.J., Barranger J., Rosenbloom B.E., Packman S., Kaplan P., Mankin H., Xavier R., Angell J., Fitzpatrick M.A., and Rosenthal D. Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study. Clin. Genet. 73 (2008) 430-440
50. Aerts J.M., Hollak C.E., van Breemen M., Maas M., Groener J.E., and Boot R.G. Identification and use of biomarkers in Gaucher disease and other lysosomal storage diseases. Acta Paediatr. Suppl. 94 (2005) 43-46 discussion 37-48
51. Rohrbach M., and Clarke J.T. Treatment of lysosomal storage disorders: progress with enzyme replacement therapy. Drugs 67 (2007) 2697-2716
52. Clarke J.T. Narrative review: Fabry disease. Ann. Intern. Med. 146 (2007) 425-433
53. MacDermot K.D., Holmes A., and Miners A.H. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J. Med. Genet. 38 (2001) 769-775
54. Eng C.M., Banikazemi M., Gordon R.E., Goldman M., Phelps R., Kim L., Gass A., Winston J., Dikman S., Fallon J.T., Brodie S., Stacy C.B., Mehta D., Parsons R., Norton K., O'Callaghan M., and Desnick R.J. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am. J. Hum. Genet. 68 (2001) 711-722
55. Schiffmann R., Kopp J.B., Austin III H.A., Sabnis S., Moore D.F., Weibel T., Balow J.E., and Brady R.O. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 285 (2001) 2743-2749
56. Aerts J.M., Groener J.E., Kuiper S., Donker-Koopman W.E., Strijland A., Ottenhoff R., van Roomen C., Mirzaian M., Wijburg F.A., Linthorst G.E., Vedder A.C., Rombach S.M., Cox-Brinkman J., Somerharju P., Boot R.G., Hollak C.E., Brady R.O., and Poorthuis B.J. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc. Natl. Acad. Sci. U. S. A. 105 (2008) 2812-2817
57. Banikazemi M., Bultas J., Waldek S., Wilcox W.R., Whitley C.B., McDonald M., Finkel R., Packman S., Bichet D.G., Warnock D.G., and Desnick R.J. Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann. Intern. Med. 146 (2007) 77-86
58. Lee K., Jin X., Zhang K., Copertino L., Andrews L., Baker-Malcolm J., Geagan L., Qiu H., Seiger K., Barngrover D., McPherson J.M., and Edmunds T. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 13 (2003) 305-313
59. Sakuraba H., Murata-Ohsawa M., Kawashima I., Tajima Y., Kotani M., Ohshima T., Chiba Y., Takashiba M., Jigami Y., Fukushige T., Kanzaki T., and Itoh K. Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice. J. Hum. Genet. 51 (2006) 180-188
60. Wraith J.E., Tylki-Szymanska A., Guffon N., Lien Y.H., Tsimaratos M., Vellodi A., and Germain D.P. Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J. Pediatr. 152 (2008) 563-570 570 e561
61. Harmatz P., Giugliani R., Schwartz I., Guffon N., Teles E.L., Miranda M.C., Wraith J.E., Beck M., Arash L., Scarpa M., Yu Z.F., Wittes J., Berger K.I., Newman M.S., Lowe A.M., Kakkis E., and Swiedler S.J. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study. J. Pediatr. 148 (2006) 533-539
62. Muenzer J., Gucsavas-Calikoglu M., McCandless S.E., Schuetz T.J., and Kimura A. A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome). Mol. Genet. Metab. 90 (2007) 329-337
63. Wraith J.E., Clarke L.A., Beck M., Kolodny E.H., Pastores G.M., Muenzer J., Rapoport D.M., Berger K.I., Swiedler S.J., Kakkis E.D., Braakman T., Chadbourne E., Walton-Bowen K., and Cox G.F. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-l-iduronidase (laronidase). J. Pediatr. 144 (2004) 581-588
64. Sifuentes M., Doroshow R., Hoft R., Mason G., Walot I., Diament M., Okazaki S., Huff K., Cox G.F., Swiedler S.J., and Kakkis E.D. A follow-up study of MPS I patients treated with laronidase enzyme replacement therapy for 6 years. Mol. Genet. Metab. 90 (2007) 171-180
65. Hers H.G. a-Glucosidase deficiency in generalised glycogen storage disease (Pompe's disease). Biochem. J. 86 (1963) 11-16
66. Kishnani P.S., Hwu W.L., Mandel H., Nicolino M., Yong F., and Corzo D. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J. Pediatr. 148 (2006) 671-676
67. Hagemans M.L., Winkel L.P., Van Doorn P.A., Hop W.J., Loonen M.C., Reuser A.J., and Van der Ploeg A.T. Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients. Brain 128 (2005) 671-677
68. Kishnani P.S., Corzo D., Nicolino M., Byrne B., Mandel H., Hwu W.L., Leslie N., Levine J., Spencer C., McDonald M., Li J., Dumontier J., Halberthal M., Chien Y.H., Hopkin R., Vijayaraghavan S., Gruskin D., Bartholomew D., van der Ploeg A., Clancy J.P., Parini R., Morin G., Beck M., De la Gastine G.S., Jokic M., Thurberg B., Richards S., Bali D., Davison M., Worden M.A., Chen Y.T., and Wraith J.E. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 68 (2007) 99-109
69. van der Beek N.A., Hagemans M.L., van der Ploeg A.T., Reuser A.J., and van Doorn P.A. Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. Acta Neurol. Belg. 106 (2006) 82-86
70. Sands M.S. Gene therapy. In: Platt F.M., and Walkley S.U. (Eds). Lysosomal Disorders of the Brain (2004), Oxford Univ. Press, Oxford 409-430
71. Cardone M. Prospects for gene therapy in inherited neurodegenerative diseases. Curr. Opin. Neurol. 20 (2007) 151-158
72. Barranger J.A., Rice E.O., Dunigan J., Sansieri C., Takiyama N., Beeler M., Lancia J., Lucot S., Scheirer-Fochler S., Mohney T., Swaney W., Bahnson A., and Ball E. Gaucher's disease: studies of gene transfer to haematopoietic cells. Bailliere's Clin. Haematol. 10 (1997) 765-778
73. Worgall S., Sondhi D., Hackett N.R., Kosofsky B., Kekatpure M.V., Neyzi N., Dyke J.P., Ballon D., Heier L., Greenwald B.M., Christos P., Mazumdar M., Souweidane M.M., Kaplitt M.G., and Crystal R.G. Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA. Hum. Gene Ther. 5 (2008) 463-474
74. Fan J.Q. A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity. Biol. Chem. 389 (2008) 1-11
75. Frustaci A., Chimenti C., Ricci R., Natale L., Russo M.A., Pieroni M., Eng C.M., and Desnick R.J. Improvement in cardiac function in the cardiac variant of Fabry's disease with galactose-infusion therapy. N. Engl. J. Med. 345 (2001) 25-32
76. Mu T.W., Fowler D.M., and Kelly J.W. Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis. PLoS Biol. 6 (2008) e26
77. Platt F.M., and Butters T.D. Inhibition of substrate synthesis: a pharmacological approach for glycosphingolipid storage disease therapy. In: Platt F.M., and Walkley S.U. (Eds). Lysosomal Disorders of the Brain (2004), Oxford Univ. Press, Oxford 381-408
78. Platt F.M., Neises G.R., Dwek R.A., and Butters T.D. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J. Biol. Chem. 269 (1994) 8362-8365
79. Platt F.M., Neises G.R., Reinkensmeier G., Townsend M.J., Perry V.H., Proia R.L., Winchester B., Dwek R.A., and Butters T.D. Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science 276 (1997) 428-431
80. Jeyakumar M., Butters T.D., Cortina-Borja M., Hunnam V., Proia R.L., Perry V.H., Dwek R.A., and Platt F.M. Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin. Proc. Natl. Acad. Sci. U. S. A. 96 (1999) 6388-6393
81. Heare T., Alp N.J., Priestman D.A., Kulkarni A.B., Qasba P., Butters T.D., Dwek R.A., Clarke K., Channon K.M., and Platt F.M. Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatment. J. Inherit. Metab. Dis. 30 (2007) 79-87
82. Elliot-Smith E., Speak A.O., Lloyd-Evans E., Smith D.A., van der Spoel A.C., Jeyakumar M., Butters T.D., Dwek R.A., d'Azzo A., and Platt F.M. Beneficial effects of substrate reduction therapy in a mouse model of GM1 gangliosidosis. Molec. Genet. Metab. 94 (2008) 204-211
83. Zervas M., Somers K.L., Thrall M.A., and Walkley S.U. Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr. Biol. 11 (2001) 1283-1287
84. Cox T., Lachmann R., Hollak C., Aerts J., van Weely S., Hrebicek M., Platt F., Butters T., Dwek R., Moyses C., Gow I., Elstein D., and Zimran A. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 355 (2000) 1481-1485
85. Elstein D., Hollak C., Aerts J.M., van Weely S., Maas M., Cox T.M., Lachmann R.H., Hrebicek M., Platt F.M., Butters T.D., Dwek R.A., and Zimran A. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J. Inherit. Metab. Dis. 27 (2004) 757-766
86. Lachmann R.H., and Platt F.M. Substrate reduction therapy for glycosphingolipid storage disorders. Expert Opin. Investig. Drugs 10 (2001) 455-466
87. Capablo J.L., Saenz de Cabezon A., Fraile J., Alfonso P., Pocovi M., and Giraldo P. Neurological evaluation of patients with Gaucher disease diagnosed as type 1. J. Neurol. Neurosurg. Psychiatry 79 (2008) 219-222
88. Cox T.M., Aerts J.M., Andria G., Beck M., Belmatoug N., Bembi B., Chertkoff R., Vom Dahl S., Elstein D., Erikson A., Giralt M., Heitner R., Hollak C., Hrebicek M., Lewis S., Mehta A., Pastores G.M., Rolfs A., Miranda M.C., and Zimran A. The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: a position statement. J. Inherit. Metab. Dis. 26 (2003) 513-526
89. Vellodi A., Harris C., DeVile C., Davies E., Fitzgibbon E., Abel L., Campbell P., van Schalk N., Benko W., Timmons M., and Schiffmann R. Miglustat in Gaucher disease type 3. Eur. J. Hum. Genet. 15 Suppl. 1 (2007) 347
90. Patterson M.C., Vecchio D., Prady H., Abel L., and Wraith J.E. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol. 6 (2007) 765-772
91. Jeyakumar M., Norflus F., Tifft C.J., Cortina-Borja M., Butters T.D., Proia R.L., Perry V.H., Dwek R.A., and Platt F.M. Enhanced survival in Sandhoff disease mice receiving a combination of substrate deprivation therapy and bone marrow transplantation. Blood 97 (2001) 327-329
92. Matzner U., Herbst E., Hedayati K.K., Lullmann-Rauch R., Wessig C., Schroder S., Eistrup C., Moller C., Fogh J., and Gieselmann V. Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Hum. Mol. Genet. 14 (2005) 1139-1152
93. Dickson P., McEntee M., Vogler C., Le S., Levy B., Peinovich M., Hanson S., Passage M., and Kakkis E. Intrathecal enzyme replacement therapy: successful treatment of brain disease via the cerebrospinal fluid. Mol. Genet. Metab. 91 (2007) 61-68
94. Biegstraaten M., van Schaik I.N., Aerts J.M., and Hollak C.E. 'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature. J. Inherit. Metab. Dis. 31 3 (2008) 337-349
95. Horowitz M., Pasmanik-Chor M., Borochowitz Z., Falik-Zaccai T., Heldmann K., Carmi R., Parvari R., Beit-Or H., Goldman B., Peleg L., Levy-Lahad E., Renbaum P., Legum S., Shomrat R., Yeger H., Benbenisti D., Navon R., Dror V., Shohat M., Magal N., Navot N., and Eyal N. Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population. Hum. Mutat. 12 (1998) 240-244
96. Spada M., Pagliardini S., Yasuda M., Tukel T., Thiagarajan G., Sakuraba H., Ponzone A., and Desnick R.J. High incidence of later-onset Fabry disease revealed by newborn screening. Am. J. Hum. Genet. 79 (2006) 31-40