Emerging therapies and therapeutic concepts for lysosomal storage diseases

Bibliography

• Appelmans F, Wattiaux R, de Duve C. Tissue fractionation studies 5 The association of acid phosphatase with a special class of cytoplasmic granules in rat liver. Biochem J 1955;59:438-45
   PubMed Web of Science ®Google Scholar
• de Duve C, Pressman BC, Gianetto R, et al. Tissue fractionation studies 6 Intracellular distribution patterns of enzymes in rat-liver tissue. Biochem J 1955;60:604-17
   PubMed Web of Science ®Google Scholar
• de Duve C, Wattiaux R. Functions of lysosomes. Annu Rev Physiol 1966;28:435-92
   PubMed Web of Science ®Google Scholar
• Bainton DF. The discovery of lysosomes. J Cell Biol 1981;91:66s-76s
   PubMed Web of Science ®Google Scholar
• Turk V, Turk B, Turk D. Lysosomal cysteine proteases: facts and opportunities. Embo J 2001;20:4629-33
   PubMed Web of Science ®Google Scholar
• Kirkegaard T, Jaattela M. Lysosomal involvement in cell death and cancer. Biochim Biophys Acta 2009;1793:746-54
   PubMed Web of Science ®Google Scholar
• Platt FM, Boland B, van der Spoel AC. The cell biology of disease: lysosomal storage disorders: The cellular impact of lysosomal dysfunction. J Cell Biol 2012;199:723-34
   PubMed Web of Science ®Google Scholar
• Sardiello M, Palmieri M, di Ronza A, et al. A gene network regulating lysosomal biogenesis and function. Science (New York, N.Y.) 2009;325:473-7
   PubMed Web of Science ®Google Scholar
• Huynh C, Roth D, Ward DM, et al. Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells. Proc Natl Acad Sci USA 2004;101:16795-800
   PubMed Web of Science ®Google Scholar
• Eskelinen EL, Tanaka Y, Saftig P. At the acidic edge: emerging functions for lysosomal membrane proteins. Trends Cell Biol 2003;13:137-45
   PubMed Web of Science ®Google Scholar
• Stein MP, Dong J, Wandinger-Ness A. Rab proteins and endocytic trafficking: potential targets for therapeutic intervention. Adv Drug Deliv Rev 2003;55:1421-37
   PubMed Web of Science ®Google Scholar
• Xu Y-H, Barnes S, Sun Y, Grabowski GA. Multi-system disorders of glycosphingolipid and ganglioside metabolism. J Lipid Res 2010;51:1643-75
   Google Scholar
• Ruivo R, Anne C, Sagne C, Gasnier B. Molecular and cellular basis of lysosomal transmembrane protein dysfunction. Biochim Biophys Acta 2009;1793:636-49
   PubMedGoogle Scholar
• Maxfield FR, McGraw TE. Endocytic recycling. Nat Rev Mol Cell Biol 2004;5:121-32
   PubMed Web of Science ®Google Scholar
• Ghosh P, Dahms NM, Kornfeld S. Mannose 6-phosphate receptors: new twists in the tale. Nat Rev Mol Cell Biol 2003;4:202-12
   PubMed Web of Science ®Google Scholar
• Bonifacino JS, Lippincott-Schwartz J. Coat proteins: shaping membrane transport. Nat Rev Mol Cell Biol 2003;4:409-14
   PubMed Web of Science ®Google Scholar
• Neufeld EF. From serendipity to therapy. Annu Rev Biochem 2011;80:1-15
   Google Scholar
• Sun-Wada GH, Wada Y, Futai M. Lysosome and lysosome-related organelles responsible for specialized functions in higher organisms, with special emphasis on vacuolar-type proton ATPase. Cell Struct Funct 2003;28:455-63
   PubMed Web of Science ®Google Scholar
• Saftig P, Klumperman J. Lysosome biogenesis and lysosomal membrane proteins: trafficking meets function. Nat Rev Mol Cell Biol 2009;10:623-35
   PubMed Web of Science ®Google Scholar
• Dahms NM, Hancock MK. P-type lectins. Biochim Biophys Acta 2002;1572:317-40
   PubMed Web of Science ®Google Scholar
• Luzio JP, Pryor PR, Bright NA. Lysosomes: fusion and function. Nat Rev Mol Cell Biol 2007;8:622-32
   PubMed Web of Science ®Google Scholar
• Eskelinen E-L, Saftig P. Autophagy: a lysosomal degradation pathway with a central role in health and disease. Biochim Biophys Acta 2009;1793:664-73
   PubMed Web of Science ®Google Scholar
• Shintani T, Klionsky DJ. Autophagy in health and disease: a double-edged sword. Science 2004;306:990-5
   PubMed Web of Science ®Google Scholar
• Ogier-Denis E, Codogno P. Autophagy: a barrier or an adaptive response to cancer. Biochim Biophys Acta 2003;1603:113-28
   PubMed Web of Science ®Google Scholar
• Deosaran E, Larsen KB, Hua R, et al. NBR1 acts as an autophagy receptor for peroxisomes. J Cell Science 2012. [Epub ahead of print]
   Google Scholar
• Chiang HL, Terlecky SR, Plant CP, Dice JF. A role for a 70-kilodalton heat shock protein in lysosomal degradation of intracellular proteins. Science 1989;246:382-5
   PubMed Web of Science ®Google Scholar
• Blott EJ, Griffiths GM. Secretory lysosomes. Nat Rev Mol Cell Biol 2002;3:122-31
   PubMed Web of Science ®Google Scholar
• Stinchcombe J, Bossi G, Griffiths GM. Linking albinism and immunity: the secrets of secretory lysosomes. Science 2004;305:55-9
   PubMed Web of Science ®Google Scholar
• Andrews NW. Regulated secretion of conventional lysosomes. Trends Cell Biol 2000;10:316-21
   PubMed Web of Science ®Google Scholar
• Jaiswal JK, Andrews NW, Simon SM. Membrane proximal lysosomes are the major vesicles responsible for calcium-dependent exocytosis in nonsecretory cells. J Cell Biol 2002;159:625-35
   PubMed Web of Science ®Google Scholar
• Zerial M, McBride H. Rab proteins as membrane organizers. Nat Rev Mol Cell Biol 2001;2:107-17
   PubMed Web of Science ®Google Scholar
• Bright NA, Reaves BJ, Mullock BM, Luzio JP. Dense core lysosomes can fuse with late endosomes and are re-formed from the resultant hybrid organelles. J Cell Sci 1997;110(Pt 1):2027-40
   Google Scholar
• Yu L, McPhee CK, Zheng L, et al. Termination of autophagy and reformation of lysosomes regulated by mTOR. Nature 2010;465:942-6
   PubMed Web of Science ®Google Scholar
• Pryor PR, Luzio JP. Delivery of endocytosed membrane proteins to the lysosome. Biochimica et Biophysica Acta 2009;1793:615-24
   PubMed Web of Science ®Google Scholar
• Schmid JA, Mach L, Paschke E, Glossl J. Accumulation of sialic acid in endocytic compartments interferes with the formation of mature lysosomes Impaired proteolytic processing of cathepsin B in fibroblasts of patients with lysosomal sialic acid storage disease. J Biol Chem 1999;274:19063-71
   Google Scholar
• Goldman SDB, Krise JP. Niemann-Pick C1 functions independently of Niemann-Pick C2 in the initial stage of retrograde transport of membrane-impermeable lysosomal cargo. J Biol Chem 2010;285:4983-94
   Google Scholar
• Vanier MT, Millat G. Niemann–Pick disease type C. Clin Genet 2003;64(4):269-81
   PubMed Web of Science ®Google Scholar
• Devlin C, Pipalia NH, Liao X, et al. Improvement in lipid and protein trafficking in Niemann-Pick C1 cells by correction of a secondary enzyme defect. Traffic (Copenhagen, Denmark) 2010;11:601-15
   Google Scholar
• Abdul-Hammed M, Breiden B, Adebayo MA, et al. Role of endosomal membrane lipids and NPC2 in cholesterol transfer and membrane fusion. J Lipid Res 2010;51:1747-60
   PubMedGoogle Scholar
• Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54
   PubMed Web of Science ®Google Scholar
• Cox TM, Cachon-Gonzalez MB. The cellular pathology of lysosomal diseases. J Pathol 2012;226:241-54
   PubMed Web of Science ®Google Scholar
• Lloyd-Evans E, Morgan AJ, He X, et al. Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. Nat Med 2008;14:1247-55
   PubMed Web of Science ®Google Scholar
• Kirkegaard T, Roth AG, Petersen NH, et al. Others, Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology. Nature 2010;463:549-53
   PubMed Web of Science ®Google Scholar
• Schuchman EH. Acid sphingomyelinase, cell membranes and human disease: lessons from Niemann-Pick disease. FEBS Lett 2010;584:1895-900
   PubMed Web of Science ®Google Scholar
• Beck M. Therapy for lysosomal storage disorders. IUBMB Life 2010;62:33-40
   PubMed Web of Science ®Google Scholar
• de Ru MH, Boelens JJ, Das AM, et al. Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure. Orphanet J Rare Dis 2011;6:55
   PubMed Web of Science ®Google Scholar
• Fratantoni JC, Hall CW, Neufeld EF. Hurler and Hunter syndromes: mutual correction of the defect in cultured fibroblasts. Science (New York, N.Y.) 1968;162:570-2
   PubMed Web of Science ®Google Scholar
• Dahms NM, Lobel P, Kornfeld S. Mannose 6-phosphate receptors and lysosomal enzyme targeting. J Biol Chem 1989;264:12115-18
   PubMed Web of Science ®Google Scholar
• Barton NW, Brady RO, Dambrosia JM, et al. Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. N Engl J Med 1991;324:1464-70
   PubMed Web of Science ®Google Scholar
• Johnson WG, Desnick RJ, Long DM, et al. Intravenous injection of purified hexosaminidase A into a patient with Tay-Sachs disease. Birth Defects Orig Artic Ser 1973;9:120-4
   Google Scholar
• Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Diseases 2010;5:16
   PubMed Web of Science ®Google Scholar
• Richards SM, Olson TA, McPherson JM. Antibody response in patients with Gaucher disease after repeated infusion with macrophage-targeted glucocerebrosidase. Blood 1993;82:1402-9
   PubMed Web of Science ®Google Scholar
• Banugaria SG, Prater SN, Ng YK, et al. The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease. Genet Med 2011;13:729-36
   PubMed Web of Science ®Google Scholar
• Krivit W, Peters C, Shapiro EG. 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 syn. Curr Opin Neurol 1999;12:167-76
   PubMed Web of Science ®Google Scholar
• Souillet G, Guffon N, Maire I, et al. Outcome of 27 patients with Hurler's syndrome transplanted from either related or unrelated haematopoietic stem cell sources. Bone Marrow Transplant 2003;31:1105-17
   PubMed Web of Science ®Google Scholar
• Sauer M, Meissner B, Fuchs D, et al. Allogeneic blood SCT for children with Hurler's syndrome: results from the German multicenter approach MPS-HCT. 2005;Bone Marrow Transplant 2009;43:375-81
   Google Scholar
• Grigull L, Sykora K-W, Tenger A, et al. Variable disease progression after successful stem cell transplantation: prospective follow-up investigations in eight patients with Hurler syndrome. Pediatr Transplant 2011;15:861-9
   PubMedGoogle Scholar
• Weinreb NJ. Imiglucerase and its use for the treatment of Gaucher's disease. Expert Opin Pharmacother 2008;9:1987-2000
   PubMed Web of Science ®Google Scholar
• Weinreb NJ, Goldblatt J, Villalobos J, et al. Long-term clinical outcomes in type 1 Gaucher disease following 10 years of imiglucerase treatment. J Inherited Metabolic Disease 2012. [Epub ahead of print]
   Google Scholar
• Vellodi A, Tylki-Szymanska A, Davies EH, et al. Management of neuronopathic Gaucher disease: revised recommendations. J Inherit Metab Dis 2009;32:660-4
   PubMed Web of Science ®Google Scholar
• Schaefer RM, Tylki-Szymanska A, Hilz MJ. Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. Drugs 2009;69:2179-205
   PubMed Web of Science ®Google Scholar
• Mehta A, Beck M, Eyskens F, et al. Fabry disease: a review of current management strategies. QJM 2010;103:641-59
   PubMed Web of Science ®Google Scholar
• Aerts JM, Groener JE, Kuiper S, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci USA 2008;105:2812-17
   PubMed Web of Science ®Google Scholar
• Rombach SM, Dekker N, Bouwman MG, et al. Plasma globotriaosylsphingosine: diagnostic value and relation to clinical manifestations of Fabry disease. Biochim Biophys Acta 2010;1802:741-8
   PubMed Web of Science ®Google Scholar
• Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology (Oxford, England) 2011;50(Suppl 5):v4-12
   PubMed Web of Science ®Google Scholar
• Clarke LA, Wraith JE, Beck M, et al. Long-term efficacy and safety of laronidase in the treatment of mucopolysaccharidosis I. Pediatrics 2009;123:229-40
   PubMed Web of Science ®Google Scholar
• Muenzer J, Beck M, Eng CM, et al. Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome. Genet Med 2011;13:95-101
   PubMed Web of Science ®Google Scholar
• Muenzer J, Beck M, Eng CM, et al. Multidisciplinary management of Hunter syndrome. Pediatrics 2009;124:e1228-39
   PubMed Web of Science ®Google Scholar
• Harmatz P, Giugliani R, Schwartz IVD, et al. Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab 2008;94:469-75
   PubMed Web of Science ®Google Scholar
• Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007;68:99-109
   PubMed Web of Science ®Google Scholar
• Nicolino M, Byrne B, Wraith JE, et al. Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease. Genet Med 2009;11:210-19
   PubMed Web of Science ®Google Scholar
• van der Ploeg AT, Clemens PR, Corzo D, et al. A randomized study of alglucosidase alfa in late-onset Pompe's disease. N Engl J Med 2010;362:1396-406
   PubMed Web of Science ®Google Scholar
• Matzner U, Herbst E, Hedayati KK, et al. Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy. Hum Mol Genet 2005;14:1139-52
   PubMed Web of Science ®Google Scholar
• Blanz J, Stroobants S, Lullmann-Rauch R, et al. Reversal of peripheral and central neural storage and ataxia after recombinant enzyme replacement therapy in alpha-mannosidosis mice. Hum Mol Genet 2008;17:3437-45
   PubMed Web of Science ®Google Scholar
• Zhu Y, Li X, McVie-Wylie A, et al. Carbohydrate-remodelled acid alpha-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice. Biochem J 2005;389:619-28
   PubMed Web of Science ®Google Scholar
• Maga JA, Zhou J, Kambampati R, et al. Glycosylation-independent lysosomal targeting of acid alpha-glucosidase enhances muscle glycogen clearance in Pompe mice. J Biol Chem 2013;288(3):1428-38
   PubMed Web of Science ®Google Scholar
• Moreland RJ, Jin X, Zhang XK, et al. Lysosomal acid alpha-glucosidase consists of four different peptides processed from a single chain precursor. J Biol Chem 2005;280:6780-91
   Web of Science ®Google Scholar
• Gabathuler R. Approaches to transport therapeutic drugs across the blood-brain barrier to treat brain diseases. Neurobiol Dis 2010;37:48-57
   PubMed Web of Science ®Google Scholar
• Boado RJ, Zhang Y, Zhang Y, et al. Genetic engineering of a lysosomal enzyme fusion protein for targeted delivery across the human blood-brain barrier. Biotechnol Bioeng 2008;99:475-84
   PubMed Web of Science ®Google Scholar
• Lu JZ, Hui EK-W, Boado RJ, Pardridge WM. Genetic engineering of a bifunctional IgG fusion protein with iduronate-2-sulfatase. Bioconjug Chem 2010;21:151-6
   PubMed Web of Science ®Google Scholar
• Boado RJ, Lu JZ, Hui EK-W, et al. Pharmacokinetics and brain uptake in the Rhesus monkey of a fusion protein of arylsulfatase A and a monoclonal antibody against the human insulin receptor. Biotechnol Bioeng 2012. [Epub ahead of print]
   Google Scholar
• Demeule M, Poirier J, Jodoin J, et al. High transcytosis of melanotransferrin (P97) across the blood-brain barrier. J Neurochem 2002;83:924-33
   PubMed Web of Science ®Google Scholar
• Demeule M, Regina A, Che C, et al. Identification and design of peptides as a new drug delivery system for the brain. J Pharmacol Exp Ther 2008;324:1064-72
   PubMed Web of Science ®Google Scholar
• Demeule M, Currie J-C, Bertrand Y, et al. Involvement of the low-density lipoprotein receptor-related protein in the transcytosis of the brain delivery vector angiopep-2. J Neurochem 2008;106:1534-44
   PubMed Web of Science ®Google Scholar
• Pardridge WM, Boado RJ. Reengineering biopharmaceuticals for targeted delivery across the blood-brain barrier. 1st edition. Methods in Enzymology, Elsevier, Inc; 2012;503:269-92
   Google Scholar
• Takemoto S, Nishikawa M, Takakura Y. Pharmacokinetic and tissue distribution mechanism of mouse recombinant heat shock protein 70 in mice. Pharm Res 2005;22:419-26
   Google Scholar
• Muro S, Schuchman EH, Muzykantov VR. Lysosomal enzyme delivery by ICAM-1-targeted nanocarriers bypassing glycosylation- and clathrin-dependent endocytosis. Mol Ther 2006;13:135-41
   PubMed Web of Science ®Google Scholar
• Spencer BJ, Verma IM. Targeted delivery of proteins across the blood-brain barrier. Proc Natl Acad Sci USA 2007;104:7594-9
   PubMed Web of Science ®Google Scholar
• Thomas FC, Taskar K, Rudraraju V, et al. Uptake of ANG1005, a novel paclitaxel derivative, through the blood-brain barrier into brain and experimental brain metastases of breast cancer. Pharm Res 2009;26:2486-94
   PubMed Web of Science ®Google Scholar
• Platt FM, Neises GR, Dwek RA, Butters TD. N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis. J Biol Chem 1994;269:8362-5
   PubMed Web of Science ®Google Scholar
• Cox T, Lachmann R, Hollak C, et al. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000;355:1481-5
   PubMed Web of Science ®Google Scholar
• Bembi B, Marchetti F, Guerci VI, et al. Substrate reduction therapy in the infantile form of Tay-Sachs disease. Neurology 2006;66:278-80
   PubMedGoogle Scholar
• Shapiro BE, Pastores GM, Gianutsos J, et al. Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment. Genet Med 2009;11:425-33
   PubMed Web of Science ®Google Scholar
• Guffon N, Bin-Dorel S, Decullier E, et al. Evaluation of miglustat treatment in patients with type III mucopolysaccharidosis: a randomized, double-blind, placebo-controlled study. J Pediatr 2011;159:838-844.e1
   PubMed Web of Science ®Google Scholar
• Patterson MC, Vecchio D, Prady H, et al. Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study. Lancet Neurol 2007;6:765-72
   PubMed Web of Science ®Google Scholar
• Maegawa GHB, Banwell BL, Blaser S, et al. Substrate reduction therapy in juvenile GM2 gangliosidosis. Mol Genet Metab 2009;98:215-24
   Google Scholar
• Lukina E, Watman N, Arreguin EA, et al. Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a Phase II study. Blood 2010;116:4095-8
   PubMed Web of Science ®Google Scholar
• Piotrowska E, Jakobkiewicz-Banecka J, Maryniak A, et al. Two-year follow-up of Sanfilippo disease patients treated with a genistein-rich isoflavone extract: assessment of effects on cognitive functions and general status of patients. Med Sci Monitor 2011;17:CR196-202
   PubMed Web of Science ®Google Scholar
• Nylandsted J, Gyrd-Hansen M, Danielewicz A, et al. Heat shock protein 70 promotes cell survival by inhibiting lysosomal membrane permeabilization. J Exp Med 2004;200:425-35
   PubMed Web of Science ®Google Scholar
• Hwang JH, Ryu JK, Yoon YB, et al. Spontaneous activation of pancreas trypsinogen in heat shock protein 701 knock-out mice. Pancreas 2005;31:332-6
   Google Scholar
• Bivik C, Rosdahl I, Ollinger K. Hsp70 protects against UVB induced apoptosis by preventing release of cathepsins and cytochrome c in human melanocytes. Carcinogenesis 2007;28:537-44
   PubMed Web of Science ®Google Scholar
• Leist M, Jaattela M. Four deaths and a funeral: from caspases to alternative mechanisms. Nat Rev Mol Cell Biol 2001;2:589-98
   PubMed Web of Science ®Google Scholar
• Petersen NHT, Kirkegaard T. HSP70 and lysosomal storage disorders: novel therapeutic opportunities. Biochem Soc Trans 2010;38:1479-83
   PubMedGoogle Scholar
• Hargitai J, Lewis H, Boros I, et al. Bimoclomol, a heat shock protein co-inducer, acts by the prolonged activation of heat shock factor-1. Biochem Biophys Res Commun 2003;307:689-95
   PubMed Web of Science ®Google Scholar
• Kieran D, Kalmar B, Dick JRT, et al. Treatment with arimoclomol, a coinducer of heat shock proteins, delays disease progression in ALS mice. Nat Med 2004;10:402-5
   PubMed Web of Science ®Google Scholar
• Fan JQ, Ishii S, Asano N, Suzuki Y. Accelerated transport and maturation of lysosomal alpha-galactosidase A in Fabry lymphoblasts by an enzyme inhibitor. Nat Med 1999;5:112-15
   PubMed Web of Science ®Google Scholar
• Fan J-Q, Ishii S. Active-site-specific chaperone therapy for Fabry disease Yin and Yang of enzyme inhibitors. FEBS J 2007;274:4962-71
   PubMed Web of Science ®Google Scholar
• Amicus Therapeutics and GlaxoSmithKline Announce Top Line 6-Month Primary Treatment Period Results From First Phase III Fabry Monotherapy Study with migalastat. 2012. Available from: http://ir.amicustherapeutics.com/releasedetail.cfm?ReleaseID=727915
   Google Scholar
• Maegawa GHB, Tropak M, Buttner J, et al. Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis. J Biol Chem 2007;282:9150-61
   PubMed Web of Science ®Google Scholar
• Maegawa GHB, Tropak MB, Buttner JD, et al. Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. J Biol Chem 2009;284:23502-16
   PubMed Web of Science ®Google Scholar
• Clarke JTR, Mahuran DJ, Sathe S, et al. An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants). Mol Genet Metab 2011;102:6-12
   PubMedGoogle Scholar
• Brown JR, Crawford BE, Esko JD. Glycan antagonists and inhibitors: a fount for drug discovery. Crit Rev Biochem Mol Biol 2007;42:481-515
   PubMed Web of Science ®Google Scholar
• Crawford B, Brown J, Tolmie K, et al. Small molecule inhibitors of Glycosaminoglycan Biosynthesis as substrate optimization therapy for the Mucopolysaccharidoses. Mol Genet Metab 2011;102:S12-13
   Google Scholar
• Byrne BJ, Falk DJ, Clement N, Mah CS. Gene therapy approaches for lysosomal storage disease: next-generation treatment. Hum Gene Ther 2012;23:808-15
   PubMed Web of Science ®Google Scholar
• Dunbar CE, Kohn DB, Schiffmann R, et al. Retroviral transfer of the glucocerebrosidase gene into CD34+ cells from patients with Gaucher disease: in vivo detection of transduced cells without myeloablation. Hum Gene Ther 1998;9:2629-40
   PubMed Web of Science ®Google Scholar
• Alexander BL, Ali RR, Alton EWF, et al. Progress and prospects: gene therapy clinical trials (part 1). Gene Ther 2007;14:1439-47
   PubMed Web of Science ®Google Scholar
• Worgall S, Sondhi D, Hackett NR, et al. Treatment of late infantile neuronal ceroid lipofuscinosis by CNS administration of a serotype 2 adeno-associated virus expressing CLN2 cDNA. Hum Gene Ther 2008;19:463-74
   PubMed Web of Science ®Google Scholar
• Byrne B, Smith B, Martin A, et al. Phase I/II Trial of Adeno-associated Virus Acid-alpha-Glucosidase (AAV-GAA) Diaphragm Gene Therapy for Ventilatory Failure in Pompe Disease. Mol Genet Metab 2012;105:S24
   Google Scholar
• Gaudet D, Methot J, Dery S, et al. Efficacy and long-term safety of alipogene tiparvovec (AAV1-LPL(S447X)) gene therapy for lipoprotein lipase deficiency: an open-label trial. Genet Therapy 2012. [Epub ahead of print]
   Google Scholar
• Nesterova G, Gahl WA. Cystinosis: the evolution of a treatable disease. Pediatric Nephrology (Berlin, Germany) 2012;28:51-9
   Google Scholar
• Pisoni RL, Thoene JG, Christensen HN. Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts Role in therapeutic cystine removal? J Biol Chem 1985;260:4791-8
   Google Scholar
• Kleta R, Bernardini I, Ueda M, et al. Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr 2004;145:555-60
   PubMed Web of Science ®Google Scholar
• Gahl WA, Kuehl EM, Iwata F, et al. Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eye drops. Mol Genet Metab 2000;71:100-20
   PubMed Web of Science ®Google Scholar
• Hein LK, Bawden M, Muller VJ, et al. alpha-L-iduronidase premature stop codons and potential read-through in mucopolysaccharidosis type I patients. J Mol Biol 2004;338:453-62
   PubMed Web of Science ®Google Scholar
• Nudelman I, Glikin D, Smolkin B, et al. Repairing faulty genes by aminoglycosides: development of new derivatives of geneticin (G418) with enhanced suppression of diseases-causing nonsense mutations. Bioorgan Med Chem 2010;18:3735-46
   PubMed Web of Science ®Google Scholar
• Welch EM, Barton ER, Zhuo J, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007;447:87-91
   PubMed Web of Science ®Google Scholar
• Kerem E, Hirawat S, Armoni S, et al. Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective Phase II trial. Lancet 2008;372:719-27
   PubMed Web of Science ®Google Scholar
• Liu B, Li H, Repa JJ, et al. Genetic variations and treatments that affect the lifespan of the NPC1 mouse. J Lipid Res 2008;49:663-9
   PubMed Web of Science ®Google Scholar
• Ramirez CM, Liu B, Taylor AM, et al. Weekly cyclodextrin administration normalizes cholesterol metabolism in nearly every organ of the Niemann-Pick type C1 mouse and markedly prolongs life. Pediatr Res 2010;68:309-15
   PubMed Web of Science ®Google Scholar
• Davidson CD, Ali NF, Micsenyi MC, et al. Chronic cyclodextrin treatment of murine Niemann-Pick C disease ameliorates neuronal cholesterol and glycosphingolipid storage and disease progression. PLoS ONE 2009;4:e6951
   PubMed Web of Science ®Google Scholar
• Gould S, Scott RC. 2-Hydroxypropyl-beta-cyclodextrin (HP-beta-CD): a toxicology review. Food Chem Toxicol 2005;43:1451-9
   PubMed Web of Science ®Google Scholar
• Brewster ME, Anderson WR, Meinsma D, et al. Intravenous and oral pharmacokinetic evaluation of a 2-hydroxypropyl-beta-cyclodextrin-based formulation of carbamazepine in the dog: comparison with commercially available tablets and suspensions. J Pharm Sci 1997;86:335-9
   PubMed Web of Science ®Google Scholar
• Irie T, Uekama K. Pharmaceutical applications of cyclodextrins III Toxicological issues and safety evaluation. J Pharm Sci 1997;86:147-62
   PubMed Web of Science ®Google Scholar
• Stella VJ, He Q. Cyclodextrins. Toxicol Pathol 2008;36:30-42
   PubMed Web of Science ®Google Scholar
• Ward S, O'Donnell P, Fernandez S, Vite CH. 2-hydroxypropyl-beta-cyclodextrin raises hearing threshold in normal cats and in cats with Niemann-Pick type C disease. Pediatr Res 2010;68:52-6
   PubMed Web of Science ®Google Scholar
• Crumling MA, Liu L, Thomas PV, et al. Hearing loss and hair cell death in mice given the cholesterol-chelating agent hydroxypropyl-beta-cyclodextrin. PLoS ONE 2012;7:e53280
   Google Scholar
• Muralidhar A, Borbon IA, Esharif DM, et al. Pulmonary function and pathology in hydroxypropyl-beta-cyclodextrin-treated and untreated Npc1−/− mice. Mol Genet Metab 2011;103:142-7
   Google Scholar
• Pontikis CC, Davidson CD, Walkley SU, et al. Cyclodextrin alleviates neuronal storage of cholesterol in Niemann-Pick C disease without evidence of detectable blood-brain barrier permeability. J Inherited Metabolic Disease 2013. [Epub ahead of print]
   Google Scholar
• Balch WE, Morimoto RI, Dillin A, Kelly JW. Adapting proteostasis for disease intervention. Science (New York, N.Y.) 2008;319:916-19
   PubMed Web of Science ®Google Scholar
• Medina DL, Fraldi A, Bouche V, et al. Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Dev Cell 2011;21:421-30
   PubMed Web of Science ®Google Scholar
• Mu T-W, Fowler DM, Kelly JW. Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis. PLoS Biol 2008;6:e26
   PubMed Web of Science ®Google Scholar
• Strauss K, Goebel C, Runz H, et al. Exosome secretion ameliorates lysosomal storage of cholesterol in Niemann-Pick type C disease. J Biol Chem 2010;285:26279-88
   Web of Science ®Google Scholar
• Smith D, Wallom K-L, Williams IM, et al. Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1. Neurobiol Dis 2009;36:242-51
   PubMed Web of Science ®Google Scholar
• Mu T-W, Ong DST, Wang Y-J, et al. Chemical and biological approaches synergize to ameliorate protein-folding diseases. Cell 2008;134:769-81
   PubMed Web of Science ®Google Scholar
• Xu M, Liu K, Swaroop M, et al. delta-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disorders. J Biol Chem 2012;287:39349-60
   PubMed Web of Science ®Google Scholar
• Andersson U, Butters TD, Dwek RA, Platt FM. N-Butyldeoxygalactonojirimycin: a more selective inhibitor of glycosphingolipid biosynthesis than N-butyldeoxynojirimycin, in vitro and in vivo. Biochem Pharmacol 2000;59:821-9
   PubMed Web of Science ®Google Scholar
• McEachern KA, Fung J, Komarnitsky S, et al. A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease. Mol Genet Metab 2007;91:259-67
   PubMed Web of Science ®Google Scholar
• Larsen SD, Wilson MW, Abe A, et al. Property-based design of a glucosylceramide synthase inhibitor that reduces glucosylceramide in the brain. J Lipid Res 2012;53:282-91
   PubMed Web of Science ®Google Scholar
• Porter FD, Scherrer DE, Lanier MH, et al. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med 2010;2:56ra81
   PubMed Web of Science ®Google Scholar
• Aerts JM, Kallemeijn WW, Wegdam W, et al. Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies. J Inherit Metab Dis 2011;34:605-19
   PubMed Web of Science ®Google Scholar
• Clarke LA, Winchester B, Giugliani R, et al. Biomarkers for the mucopolysaccharidoses: discovery and clinical utility. Mol Genet Metab 2012;106:395-402
   PubMed Web of Science ®Google Scholar