Treatment of mucopolysaccharidosis type III (Sanfilippo syndrome)

Bibliography

• Muenzer J. Overview of the mucopolysaccharidoses. Rheumatology 2011;50(Suppl 5):v4-12
   PubMed Web of Science ®Google Scholar
• Poorthuis BJ, Wevers RA, Kleijer WJ, et al. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 1999;105:151-6
   PubMed Web of Science ®Google 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
• Baehner F, Schmiedeskamp C, Krummenauer F, et al. Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 2005;28:1011-17
   PubMed Web of Science ®Google Scholar
• Valstar MJ, Ruijter GJ, Van Diggelen OP, et al. Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 2008;31:240-52
   PubMed Web of Science ®Google Scholar
• Ruijter GJ, Valstar MJ, Van de Kamp JM, et al. Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab 2008;93:104-11
   PubMed Web of Science ®Google Scholar
• Meyer A, Kossow K, Gal A, et al. Scoring evaluation of the natural course of mucopolysaccharidosis type IIIA (Sanfilippo syndrome type A). Pediatrics 2007;120:e1255-61
   PubMed Web of Science ®Google Scholar
• Wijburg FA, Węgrzyn G, Burton BK, Tylki-Szymańska A. Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Paediatr 2013;102:462-70
   PubMed Web of Science ®Google Scholar
• Moog U, Van Mierlo I, Van Schrojenstein Lantman-de Valk HM, et al. Is Sanfilippo type B in your mind when you see adults with mental retardation and behavioral problems? Am J Med Genet C Semin Med Genet 2007;145C:293-301
   PubMed Web of Science ®Google Scholar
• Valstar MJ, Bruggenwirth HT, Olmer R, et al. Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis 2010;33:759-67
   PubMed Web of Science ®Google Scholar
• Héron B, Mikaeloff Y, Froissart R, et al. Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A 2011;155A:58-68
   PubMed Web of Science ®Google Scholar
• Vitry S, Bruyère J, Hocquemiller M, et al. Storage vesicles in neurons are related to Golgi complex alterations in mucopolysaccharidosis IIIB. Am J Pathol 2010;177:2984-99
   PubMed Web of Science ®Google Scholar
• Lemonnier T, Blanchard S, Toli D, et al. Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells. Hum Mol Genet 2011;20:3653-66
   PubMed Web of Science ®Google Scholar
• Roy E, Bruyère J, Flamant P, et al. GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease. Hum Mol Genet 2012;21:1481-95
   PubMed Web of Science ®Google Scholar
• Nakamura N. Emerging new roles of GM130, a cis-Golgi matrix protein, in higher order cell functions. J Pharmacol Sci 2010;112:255-64
   PubMed Web of Science ®Google Scholar
• Constantopoulos G, Eiben RM, Schafer IA. Neurochemistry of the mucopolysaccharidoses: brain glycosaminoglycans, lipids and lysosomal enzymes in mucopolysaccharidosis type III B (alpha-N-acetylglucosaminidase deficiency). J Neurochem 1978;31:1215-22
   PubMed Web of Science ®Google Scholar
• Constantopoulos G, Dekaban AS. Neurochemistry of the mucopolysaccharidoses: brain lipids and lysosomal enzymes in patients with four types of mucopolysaccharidosis and in normal controls. J Neurochem 1978;30:965-73
   PubMed Web of Science ®Google Scholar
• Constantopoulos G, Iqbal K, Dekaban AS. Mucopolysaccharidosis types IH, IS, II, and IIIA: glycosaminoglycans and lipids of isolated brain cells and other fractions from autopsied tissues. J Neurochem 1980;34:1399-411
   PubMed Web of Science ®Google Scholar
• Jones MZ, Alroy J, Rutledge JC, et al. Human mucopolysaccharidosis IIID: clinical, biochemical, morphological and immunohistochemical characteristics. J Neuropathol Exp Neurol 1997;56:1158-67
   PubMed Web of Science ®Google Scholar
• Crawley AC, Gliddon BL, Auclair D, et al. Characterization of a C57BL/6 congenic mouse strain of mucopolysaccharidosis type IIIA. Brain Res 2006;1104:1-17
   PubMed Web of Science ®Google Scholar
• Ausseil J, Desmaris N, Bigou S, et al. Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice. PLoS One 2008;3:e2296
   PubMed Web of Science ®Google Scholar
• Wilkinson FL, Holley RJ, Langford-Smith KJ, et al. Neuropathology in mouse models of mucopolysaccharidosis type I, IIIA and IIIB. PLoS One 2012;7:e35787
   PubMed Web of Science ®Google Scholar
• McGlynn R, Dobrenis K, Walkley SU. Differential subcellular localization of cholesterol, gangliosides, and glycosaminoglycans in murine models of mucopolysaccharide storage disorders. J Comp Neurol 2004;480:415-26
   PubMed Web of Science ®Google Scholar
• Mohammed EE, Snella EM, Rutz-Mendicino MM, et al. Accelerated clinical disease and pathology in mucopolysaccharidosis type IIIB and GalNAc transferase double knockout mice. Mol Genet Metab 2012;107:129-35
   PubMed Web of Science ®Google Scholar
• Ohmi K, Kudo LC, Ryazantsev S, et al. Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy. Proc Natl Acad Sci USA 2009;106:8332-7
   PubMed Web of Science ®Google Scholar
• Ohmi K, Zhao H-Z, Neufeld EF. Defects in the medial entorhinal cortex and dentate gyrus in the mouse model of Sanfilippo syndrome type B. PLoS ONE 2011;6:e27461
   PubMed Web of Science ®Google Scholar
• Ginsberg SD, Galvin JE, Lee VM, et al. Accumulation of intracellular amyloid-beta peptide (A beta 1-40) in mucopolysaccharidosis brains. J Neuropathol Exp Neurol 1999;58:815-24
   PubMedGoogle Scholar
• Hamano K, Hayashi M, Shioda K, et al. Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue. Acta neuropathol 2008;115:547-59
   PubMed Web of Science ®Google Scholar
• Settembre C, Fraldi A, Jahreiss L, et al. A block of autophagy in lysosomal storage disorders. Hum Mol Genet 2008;17:119-29
   PubMed Web of Science ®Google Scholar
• Archer LD, Langford-Smith KJ, Bigger BW, Fildes JE. Mucopolysaccharide diseases: a complex interplay between neuroinflammation, microglial activation and adaptive immunity. J Inherit Metab Dis 2013; s10545-013-9613-3
   Web of Science ®Google Scholar
• Ohmi K, Greenberg DS, Rajavel KS, et al. Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proc Natl Acad Sci USA 2003;100:1902-7
   PubMed Web of Science ®Google Scholar
• Villani GR, Gargiulo N, Faraonio R, et al. Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB. J Neurosci Res 2007;85:612-22
   PubMed Web of Science ®Google Scholar
• Villani GR, Di Domenico C, Musella A, et al. Mucopolysaccharidosis IIIB: oxidative damage and cytotoxic cell involvement in the neuronal pathogenesis. Brain Res 2009;1279:99-108
   PubMed Web of Science ®Google Scholar
• Kodaira Y, Nair SK, Wrenshall LE, et al. Phenotypic and functional maturation of dendritic cells mediated by heparan sulfate. J Immunol 2000;165:1599-604
   PubMed Web of Science ®Google Scholar
• Johnson GB, Brunn GJ, Kodaira Y, Platt JL. Receptor-mediated monitoring of tissue well-being via detection of soluble heparan sulfate by Toll-like receptor 4. J Immunol 2002;168:5233-9
   PubMed Web of Science ®Google Scholar
• DiRosario J, Divers E, Wang C, et al. Innate and adaptive immune activation in the brain of MPS IIIB mouse model. J Neurosci Res 2009;87:978-90
   PubMed Web of Science ®Google Scholar
• Pan C, Nelson MS, Reyes M, et al. Functional abnormalities of heparan sulfate in mucopolysaccharidosis-I are associated with defective biologic activity of FGF-2 on human multipotent progenitor cells. Blood 2005;106:1956-64
   PubMed Web of Science ®Google Scholar
• Khan SA, Nelson MS, Pan C, et al. Endogenous heparan sulfate and heparin modulate bone morphogenetic protein-4 signaling and activity. Am J Physiol Cell Physiol 2008;294:C1387-97
   PubMed Web of Science ®Google Scholar
• Bishop JR, Schuksz M, Esko JD. Heparan sulphate proteoglycans fine-tune mammalian physiology. Nature 2007;446:1030-7
   PubMed Web of Science ®Google Scholar
• Lindahl U, Kjellén L. Pathophysiology of heparan sulphate: many diseases, few drugs. J Intern Med 2013;273:555-71
   PubMed Web of Science ®Google Scholar
• King B, Savas P, Fuller M, et al. Validation of a heparan sulfate-derived disaccharide as a marker of accumulation in murine mucopolysaccharidosis type IIIA. Mol Genet Metab 2006;87:107-12
   PubMed Web of Science ®Google Scholar
• Holley RJ, Deligny A, Wei W, et al. Mucopolysaccharidosis type I, unique structure of accumulated heparan sulfate and increased N-sulfotransferase activity in mice lacking alpha-l-iduronidase. J Biol Chem 2011;286:37515-24
   PubMed Web of Science ®Google Scholar
• Keating DJ, Winter MA, Hemsley KM, et al. Exocytosis is impaired in mucopolysaccharidosis IIIA mouse chromaffin cells. Neuroscience 2012;227:110-18
   PubMed Web of Science ®Google Scholar
• Vitry S, Ausseil J, Hocquemiller M, et al. Enhanced degradation of synaptophysin by the proteasome in mucopolysaccharidosis type IIIB. Mol Cell Neurosci 2009;41:8-18
   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 1968;162:570-2
   PubMed Web of Science ®Google Scholar
• Braulke T, Bonifacino JS. Sorting of lysosomal proteins. Biochim Biophys Acta 2009;1793:605-14
   PubMed Web of Science ®Google Scholar
• Weinreb NJ, Charrow J, Andersson HC, et al. 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 2002;113:112-19
   PubMed Web of Science ®Google Scholar
• Andersson H, Kaplan P, Kacena K, Yee J. Eight-year clinical outcomes of long-term enzyme replacement therapy for 884 children with Gaucher disease type 1. Pediatrics 2008;122:1182-90
   PubMed Web of Science ®Google Scholar
• Lachmann RH. Enzyme replacement therapy for lysosomal storage diseases. Curr Opin Pediatr 2011;23:588-93
   PubMed Web of Science ®Google Scholar
• Wraith JE, Clarke LA, Beck M, et al. Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human alpha-L-iduronidase (laronidase). J Pediatr 2004;144:581-8
   PubMed Web of Science ®Google Scholar
• Muenzer J, Wraith JE, Beck M, et al. A Phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome). Genet Med 2006;8:465-73
   PubMed Web of Science ®Google Scholar
• Harmatz P, Giugliani R, Schwartz I, et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a Phase III, 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 2006;148:533-9
   PubMed Web of Science ®Google Scholar
• Kakkis ED, McEntee MF, Schmidtchen A, et al. Long-term and high-dose trials of enzyme replacement therapy in the canine model of mucopolysaccharidosis I. Biochem Mol Med 1996;58:156-67
   PubMedGoogle Scholar
• Abbott NJ, Patabendige AA, Dolman DE, et al. Structure and function of the blood-brain barrier. Neurobiol Dis 2010;37:13-25
   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
• Boado RJ, Hui EK, Lu JZ, et al. Reversal of lysosomal storage in brain of adult MPS-I mice with intravenous Trojan horse-iduronidase fusion protein. Mol Pharm 2011;8:1342-50
   PubMed Web of Science ®Google Scholar
• Wang D, El-Amouri SS, Dai M, et al. Engineering a lysosomal enzyme with a derivative of receptor-binding domain of apoE enables delivery across the blood-brain barrier. Proc Natl Acad Sci USA 2013;110:2999-3004
   PubMed Web of Science ®Google Scholar
• Grubb JH, Vogler C, Levy B, et al. Chemically modified beta-glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII. Proc Natl Acad Sci USA 2008;105:2616-21
   PubMed Web of Science ®Google Scholar
• Huynh HT, Grubb JH, Vogler C, Sly WS. Biochemical evidence for superior correction of neuronal storage by chemically modified enzyme in murine mucopolysaccharidosis VII. Proc Natl Acad Sci USA 2012;109:17022-7
   PubMed Web of Science ®Google Scholar
• Rozaklis T, Beard H, Hassiotis S, et al. Impact of high-dose, chemically modified sulfamidase on pathology in a murine model of MPS IIIA. Exp Neurol 2011;230:123-30
   PubMed Web of Science ®Google Scholar
• Chen Y, Liu L. Modern methods for delivery of drugs across the blood-brain barrier. Adv Drug Deliv Rev 2012;64:640-65
   PubMed Web of Science ®Google Scholar
• Kanwar JR, Sun X, Punj V, et al. Nanoparticles in the treatment and diagnosis of neurological disorders: untamed dragon with fire power to heal. Nanomedicine 2012;8:399-414
   PubMed Web of Science ®Google Scholar
• Re F, Gregori M, Masserini M. Nanotechnology for neurodegenerative disorders. Nanomedicine 2012;8(Suppl 1):S51-8
   PubMedGoogle Scholar
• Beier CP, Schmid C, Gorlia T, et al. RNOP-09: pegylated liposomal doxorubicine and prolonged temozolomide in addition to radiotherapy in newly diagnosed glioblastoma - a Phase II study. BMC Cancer 2009;9:308
   PubMed Web of Science ®Google Scholar
• Ananda S, Nowak AK, Cher L, et al. Phase 2 trial of temozolomide and pegylated liposomal doxorubicin in the treatment of patients with glioblastoma multiforme following concurrent radiotherapy and chemotherapy. J Clin Neurosci 2011;18:1444-8
   PubMed Web of Science ®Google Scholar
• Garnacho C, Dhami R, Simone E, et al. Delivery of acid sphingomyelinase in normal and niemann-pick disease mice using intercellular adhesion molecule-1-targeted polymer nanocarriers. J Pharmacol Exp Ther 2008;325:400-8
   PubMed Web of Science ®Google Scholar
• Hsu J, Serrano D, Bhowmick T, et al. Enhanced endothelial delivery and biochemical effects of alpha-galactosidase by ICAM-1-targeted nanocarriers for Fabry disease. J Control Release 2011;149:323-31
   PubMed Web of Science ®Google Scholar
• Hsu J, Northrup L, Bhowmick T, Muro S. Enhanced delivery of alpha-glucosidase for Pompe disease by ICAM-1-targeted nanocarriers: comparative performance of a strategy for three distinct lysosomal storage disorders. Nanomedicine 2012;8:731-9
   PubMed Web of Science ®Google Scholar
• Savas PS, Hemsley KM, Hopwood JJ. Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA. Mol Genet Metab 2004;82:273-85
   PubMed Web of Science ®Google Scholar
• Hemsley KM, King B, Hopwood JJ. Injection of recombinant human sulfamidase into the CSF via the cerebellomedullary cistern in MPS IIIA mice. Mol Genet Metab 2007;90:313-28
   PubMed Web of Science ®Google Scholar
• Hemsley KM, Norman EJ, Crawley AC, et al. Effect of cisternal sulfamidase delivery in MPS IIIA Huntaway dogs - a proof of principle study. Mol Genet Metab 2009;98:383-92
   PubMed Web of Science ®Google Scholar
• Crawley AC, Marshall N, Beard H, et al. Enzyme replacement reduces neuropathology in MPS IIIA dogs. Neurobiol Dis 2011;43:422-34
   PubMed Web of Science ®Google Scholar
• Meikle PJ, Whittle AM, Hopwood JJ. Human acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase. Kinetic characterization and mechanistic interpretation. Biochem J 1995;308(Pt 1):327-33
   PubMedGoogle Scholar
• Kishnani PS, Goldenberg PC, DeArmey SL, et al. Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants. Mol Genet Metab 2010;99:26-33
   PubMed Web of Science ®Google Scholar
• Bali DS, Goldstein JL, Banugaria S, et al. Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. Am J Med Genet C Semin Med Genet 2012;160:40-9
   Google Scholar
• Rombach SM, Aerts JM, Poorthuis BJ, et al. Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome. PLoS One 2012;7:e47805
   PubMed Web of Science ®Google Scholar
• Saif MA, Bigger BW, Brookes KE, et al. Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler's syndrome after pharmacological enzyme replacement therapy. Haematologica 2012;97:1320-8
   PubMed Web of Science ®Google Scholar
• Hobbs JR, Hugh-Jones K, Barrett AJ, et al. Reversal of clinical features of Hurler's disease and biochemical improvement after treatment by bone-marrow transplantation. Lancet 1981;2:709-12
   PubMed Web of Science ®Google Scholar
• Krivit W, Sung JH, Shapiro EG, Lockman LA. Microglia: the effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases. Cell Transplant 1995;4:385-92
   PubMed Web of Science ®Google Scholar
• Peters C, Balthazor M, Shapiro et al. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome. Blood 1996;87:4894-902
   PubMed Web of Science ®Google Scholar
• Peters C, Shapiro EG, Anderson J, et al. Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group. Blood 1998;91:2601-8
   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
• Guffon N, Souillet G, Maire I, et al. Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. J Pediatr 1998;133:119-25
   PubMed Web of Science ®Google Scholar
• Malm G, Gustafsson B, Berglund G, et al. Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT). Acta Paediatr 2008;97:1108-12
   PubMed Web of Science ®Google Scholar
• Boelens JJ, Aldenhoven M, Purtill D, et al. Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning. Blood 2013;121:3981-7
   PubMed Web of Science ®Google Scholar
• Staba SL, Escolar ML, Poe M, et al. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med 2004;350:1960-9
   PubMed Web of Science ®Google Scholar
• Vellodi A, Young E, New M, et al. Bone marrow transplantation for Sanfilippo disease type B. J Inherit Metab Dis 1992;15:911-18
   PubMed Web of Science ®Google Scholar
• Güngör N, Tunçbilek E. Sanfilippo disease type B. A case report and review of the literature on recent advances in bone marrow transplantation. Turk J Pediatr 1995;37:157-63
   PubMed Web of Science ®Google Scholar
• Shapiro EG, Lockman LA, Balthazor M, Krivit W. Neuropsychological outcomes of several storage diseases with and without bone marrow transplantation. J Inherit Metab Dis 1995;18:413-29
   PubMed Web of Science ®Google Scholar
• Sivakumur P, Wraith JE. Bone marrow transplantation in mucopolysaccharidosis type IIIA: a comparison of an early treated patient with his untreated sibling. J Inherit Metab Dis 1999;22:849-50
   PubMed Web of Science ®Google Scholar
• Lau AA, Hannouche H, Rozaklis T, et al. Allogeneic stem cell transplantation does not improve neurological deficits in mucopolysaccharidosis type IIIA mice. Exp Neurol 2010;225:445-54
   PubMed Web of Science ®Google Scholar
• Garbuzova-Davis S, Klasko SK, Sanberg PR. Intravenous administration of human umbilical cord blood cells in an animal model of MPS III B. J Comp Neurol 2009;515:93-101
   PubMed Web of Science ®Google Scholar
• Prasad VK, Mendizabal A, Parikh SH, et al. Unrelated donor umbilical cord blood transplantation for inherited metabolic disorders in 159 pediatric patients from a single center: influence of cellular composition of the graft on transplantation outcomes. Blood 2008;112:2979-89
   PubMed Web of Science ®Google Scholar
• Sands MS, Davidson BL. Gene therapy for lysosomal storage diseases. Mol Ther 2006;13:839-49
   PubMed Web of Science ®Google Scholar
• Schueler UH, Kolter T, Kaneski CR, et al. Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease. J Inherit Metab Dis 2004;27:649-58
   PubMed Web of Science ®Google Scholar
• Daly TM, Sands MS. Gene therapy for lysosomal storage diseases. Expert Opin Investig Drugs 1998;7:1673-82
   PubMedGoogle Scholar
• Fu H, Samulski RJ, McCown TJ, et al. Neurological correction of lysosomal storage in a mucopolysaccharidosis IIIB mouse model by adeno-associated virus-mediated gene delivery. Mol Ther 2002;5:42-9
   PubMed Web of Science ®Google Scholar
• Cressant A, Desmaris N, Verot L, et al. Improved behavior and neuropathology in the mouse model of Sanfilippo type IIIB disease after adeno-associated virus-mediated gene transfer in the striatum. J Neurosci 2004;24:10229-39
   PubMed Web of Science ®Google Scholar
• Fraldi A, Hemsley K, Crawley A, et al. Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes. Hum Mol Genet 2007;16:2693-702
   PubMed Web of Science ®Google Scholar
• Fu H, Kang L, Jennings JS, et al. Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice. Gene Ther 2007;14:1065-77
   PubMed Web of Science ®Google Scholar
• Fu H, DiRosario J, Kang L, et al. Restoration of central nervous system alpha-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery. J Gene Med 2010;12:624-33
   PubMed Web of Science ®Google Scholar
• McIntyre C, Byers S, Anson DS. Correction of mucopolysaccharidosis type IIIA somatic and central nervous system pathology by lentiviral-mediated gene transfer. J Gene Med 2010;12:717-28
   PubMed Web of Science ®Google Scholar
• Ellinwood NM, Ausseil J, Desmaris N, et al. Safe, efficient, and reproducible gene therapy of the brain in the dog models of Sanfilippo and Hurler syndromes. Mol Ther 2011;19:251-9
   PubMed Web of Science ®Google Scholar
• Ruzo A, Garcia M, Ribera A, et al. Liver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice. Mol Ther 2012;20:254-66
   PubMed Web of Science ®Google Scholar
• Sorrentino NC, D'Orsi L, Sambri I, et al. A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA. EMBO Mol Med 2013;5:675-90
   PubMed Web of Science ®Google Scholar
• Ruzo A, Marcó S, García M, et al. Correction of pathological accumulation of glycosaminoglycans in central nervous system and peripheral tissues of MPSIIIA mice through systemic AAV9 gene transfer. Hum Gene Ther 2012;23:1237-46
   PubMed Web of Science ®Google Scholar
• Fu H, DiRosario J, Killedar S, et al. Correction of neurological disease of mucopolysaccharidosis IIIB in adult mice by rAAV9 trans-blood-brain barrier gene delivery. Mol Ther 2011;19:1025-33
   PubMed Web of Science ®Google Scholar
• Cartier N, Hacein-Bey-Abina S, Bartholomae CC, et al. Hematopoietic stem cell gene therapy with a lentiviral vector in X-linked adrenoleukodystrophy. Science 2009;326:818-23
   PubMed Web of Science ®Google Scholar
• Candotti F, Shaw KL, Muul L, et al. Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans. Blood 2012;120:3635-46
   PubMed Web of Science ®Google Scholar
• Zheng Y, Ryazantsev S, Ohmi K, et al. Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. Mol Genet Metab 2004;82:286-95
   PubMed Web of Science ®Google Scholar
• Langford-Smith A, Wilkinson FL, Langford-Smith KJ, et al. Hematopoietic stem cell and gene therapy corrects primary neuropathology and behavior in mucopolysaccharidosis IIIA mice. Mol Ther 2012;20:1610-21
   PubMed Web of Science ®Google Scholar
• Hacein-Bey-Abina S, Von Kalle C, Schmidt M, et al. A serious adverse event after successful gene therapy for X-linked severe combined immunodeficiency. N Engl J Med 2003;348:255-6
   PubMed Web of Science ®Google Scholar
• De Palma M, Montini E, Santoni de Sio FR, et al. Promoter trapping reveals significant differences in integration site selection between MLV and HIV vectors in primary hematopoietic cells. Blood 2005;105:2307-15
   PubMed Web of Science ®Google Scholar
• Wegrzyn G, Jakóbkiewicz-Banecka J, Gabig-Cimińska M, et al. Genistein: a natural isoflavone with a potential for treatment of genetic diseases. Biochem Soc Trans 2010;38:695-701
   PubMed Web of Science ®Google Scholar
• Jakóbkiewicz-Banecka J, Piotrowska E, Narajczyk M, et al. Genistein-mediated inhibition of glycosaminoglycan synthesis, which corrects storage in cells of patients suffering from mucopolysaccharidoses, acts by influencing an epidermal growth factor-dependent pathway. J Biomed Sci 2009;16:26
   PubMed Web of Science ®Google Scholar
• Tsai TH. Concurrent measurement of unbound genistein in the blood, brain and bile of anesthetized rats using microdialysis and its pharmacokinetic application. J Chromatogr A 2005;1073:317-22
   PubMed Web of Science ®Google Scholar
• Piotrowska E, Jakóbkiewicz-Banecka J, Barańska S, et al. Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. Eur J Hum Genet 2006;14:846-52
   PubMed Web of Science ®Google Scholar
• Malinowska M, Wilkinson FL, Bennett W, et al. Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. Mol Genet Metab 2009;98:235-42
   PubMed Web of Science ®Google Scholar
• Malinowska M, Wilkinson FL, Langford-Smith KJ, et al. Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease. PLoS One 2010;5:e14192
   PubMed Web of Science ®Google Scholar
• Piotrowska E, Jakóbkiewicz-Banecka J, Tylki-Szymanska A, et al. Genistin-rich soy isoflavone extract in substrate reduction therapy for Sanfilippo syndrome: an open-label, pilot study in 10 pediatric patients. Curr Ther Res Clin Exp 2008;69:166-79
   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 Monit 2011;17:CR196-202
   PubMed Web of Science ®Google Scholar
• De Ruijter J, Valstar MJ, Narajczyk M, et al. Genistein in Sanfilippo disease: a randomized controlled crossover trial. Ann Neurol 2012;71:110-20
   PubMed Web of Science ®Google Scholar
• Malinová V, Węgrzyn G, Narajczyk M. The use of elevated doses of genistein-rich soy extract in the gene expression-targeted isoflavone therapy for Sanfilippo disease patients. JIMD Rep 2012;5:21-5
   PubMedGoogle Scholar
• Arfi A, Richard M, Gandolphe C, Scherman D. Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones. J Inherit Metab Dis 2010;33:61-7
   PubMed Web of Science ®Google Scholar
• Kloska A, Jakóbkiewicz-Banecka J, Narajczyk M, et al. Effects of flavonoids on glycosaminoglycan synthesis: implications for substrate reduction therapy in Sanfilippo disease and other mucopolysaccharidoses. Metab Brain Dis 2011;26:1-8
   PubMed Web of Science ®Google Scholar
• Elstein D, Hollak C, Aerts JM, et al. Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease. J Inherit Metab Dis 2004;27:757-66
   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
• 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;159:838-44; e1
   PubMed Web of Science ®Google 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
• Hartl FU, Bracher A, Hayer-Hartl M. Molecular chaperones in protein folding and proteostasis. Nature 2011;475:324-32
   PubMed Web of Science ®Google Scholar
• Desnick RJ, Schuchman EH. Enzyme replacement and enhancement therapies: lessons from lysosomal disorders. Nat Rev Genet 2002;3:954-66
   PubMed Web of Science ®Google Scholar
• Cattaneo M, Dominici R, Cardano M, et al. Molecular chaperones as therapeutic targets to counteract proteostasis defects. J Cell Physiol 2012;227:1226-34
   PubMed Web of Science ®Google Scholar
• Pipalia NH, Cosner CC, Huang A, et al. Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts. Proc Natl Acad Sci USA 2011;108:5620-5
   PubMed Web of Science ®Google Scholar
• Lu J, Yang C, Chen M, et al. Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease. Proc Natl Acad Sci USA 2011;108:21200-5
   PubMed Web of Science ®Google Scholar
• Valenzano KJ, Khanna R, Powe AC, et al. Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders. Assay Drug Dev Technol 2011;9:213-35
   PubMed Web of Science ®Google Scholar
• Germain DP, Giugliani R, Hughes DA, et al. Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease. report from two phase 2 clinical studies. Orphanet J Rare Dis 2012;7:91
   PubMed Web of Science ®Google Scholar
• Clarke JT, 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
• Kishnani P, Tarnopolsky M, Sivakumar K, et al. T.P.45 An ongoing Phase IIa study to investigate drug–drug interactions between escalating doses of AT2220 (duvoglustat hydrochloride) and acid alpha glucosidase in subjects with Pompe disease – preliminary results. Neuromusc Dis 2012;22:852
   Web of Science ®Google Scholar
• Ficko-Blean E, Stubbs KA, Nemirovsky O, et al. Structural and mechanistic insight into the basis of mucopolysaccharidosis IIIB. Proc Natl Acad Sci USA 2008;105:6560-5
   PubMed Web of Science ®Google Scholar
• Macauley MS, Whitworth GE, Debowski AW, et al. O-GlcNAcase uses substrate-assisted catalysis. kinetic analysis and development of highly selective mechanism-inspired inhibitors. J Biol Chem 2005;280:25313-22
   PubMed Web of Science ®Google Scholar
• Feldhammer M, Durand S, Pshezhetsky AV. Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C. PLoS One 2009;4:e7434
   PubMed Web of Science ®Google Scholar
• Lieberman RL, D'aquino JA, Ringe D, Petsko GA. Effects of pH and iminosugar pharmacological chaperones on lysosomal glycosidase structure and stability. Biochemistry 2009;48:4816-27
   PubMed Web of Science ®Google Scholar
• Arfi A, Richard M, Gandolphe C, et al. Neuroinflammatory and oxidative stress phenomena in MPS IIIA mouse model: the positive effect of long-term aspirin treatment. Mol Genet Metab 2011;103:18-25
   PubMed Web of Science ®Google Scholar
• Jeyakumar M, Smith DA, Williams IM, et al. NSAIDs increase survival in the Sandhoff disease mouse. synergy with N-butyldeoxynojirimycin. Ann Neurol 2004;56:642-9
   PubMed Web of Science ®Google Scholar
• Smith D, Wallom KL, 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
• Wilson JM, Jungner G. Principles and practice of screening for disease. WHO, Geneva; 1968. Available from: http://whqlibdoc.who.int/php/WHO_PHP_34.pdf [Cited 3 July 2013]
   Google Scholar
• De Ruijter J, De Ru MH, Wagemans T, et al. Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III. Mol Genet Metab 2012;107:705-10
   PubMed Web of Science ®Google Scholar