Glycosaminoglycans and Mucopolysaccharidosis type III

Frontiers in Bioscience - Landmark

Volumn 21, Issue 7, 2016, Pages 1393-1409

  Jakobkiewicz Banecka, Joanna ^a   Gabig Ciminska, Magdalena ^a   Kloska, Anna ^a   Malinowska, Marcelina ^a   Piotrowska, Ewa ^a   Banecka Majkutewicz, Zyta ^b   Banecki, Bogdan ^a   Wegrzyn, Alicja ^a   Wegrzyn, Grzegorz ^a  

^a UNIVERSITY OF GDA SK   (Poland)

^b MEDICAL UNIVERSITY OF GDANSK   (Poland)

Author keywords

Enzyme replacement therapy; Gene therapy and substrate reduction thearapy; Heparan sulfate; Mucopolysaccharidosis type III; Review; Sanfilippo disease

Indexed keywords

BIOLOGICAL MARKER; GLYCOSAMINOGLYCAN; HEPARAN SULFATE;

ANIMAL; CHEMISTRY; ENZYME REPLACEMENT; GENE THERAPY; GENETICS; HUMAN; LYSOSOME; METABOLISM; MUTATION; SANFILIPPO SYNDROME;

ANIMALS; BIOMARKERS; ENZYME REPLACEMENT THERAPY; GENETIC THERAPY; GLYCOSAMINOGLYCANS; HEPARITIN SULFATE; HUMANS; LYSOSOMES; MUCOPOLYSACCHARIDOSIS III; MUTATION;

EID: 85016137727     PISSN: 27686701     EISSN: 27686698     Source Type: Journal    
DOI: 10.2741/4463     Document Type: Article

References (115)

1. MJ Valstar, GJ Ruijter, OP van Diggelen, BJ Poorthuis, FA Wijburg: Sanfilippo syndrome: a mini-review. J Inherit Metab Dis 31(2), 240-52 (2008) DOI: 10.1007/s10545-008-0838-5
2. FA Wijburg, G Wegrzyn, BK Burton, A Tylki-Szymanska: Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Paediatr 102(5), 462-70 (2013) DOI: 10.1111/apa.12169
3. JA Gilkes, CD Heldermon: Mucopolysaccharidosis III (Sanfilippo Syndrome) - disease presentation and experimental therapies. Pediatr Endocrinol Rev 12 Suppl 1, 133-40 (2014)
4. M Malinowska, J Jakobkiewicz-Banecka, A Kloska, A Tylki-Szymanska, B Czartoryska, E Piotrowska, A Wegrzyn, G Wegrzyn: Abnormalities in the hair morphology of patients with some but not all types of mucopolysaccharidoses. Eur J Pediatr 167(2), 203-9 (2008) DOI: 10.1007/s00431-007-0462-7
5. M Narajczyk, A Tylki-Szymanska, G Wegrzyn: Changes in hair morphology as a biomarker in gene expression-targeted isoflavone therapy for Sanfilippo disease. Gene 504(2), 292-5 (2012) DOI: 10.1016/j.gene.2012.05.006
6. MJ Valstar, S Neijs, HT Bruggenwirth, R Olmer, GJ Ruijter, RA Wevers, OP van Diggelen, BJ Poorthuis, DJ Halley, FA Wijburg: Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations. Ann Neurol 68(6), 876-87 (2010) DOI: 10.1002/ana.22092
7. MJ Valstar, HT Bruggenwirth, R Olmer, RA Wevers, FW Verheijen, BJ Poorthuis, DJ Halley, FA Wijburg: Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype. J Inherit Metab Dis 33(6), 759-67 (2010) DOI: 10.1007/s10545-010-9199-y
8. GJ Ruijter, MJ Valstar, JM van de Kamp, RM van der Helm, S Durand, OP van Diggelen, RA Wevers, BJ Poorthuis, AV Pshezhetsky, FA Wijburg: Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab 93(2), 104-11 (2008) DOI: 10.1016/j.ymgme.2007.09.011
9. G Malm, JE Mansson: Mucopolysaccharidosis type III (Sanfilippo disease) in Sweden: clinical presentation of 22 children diagnosed during a 30-year period. Acta Paediatr 99(8), 1253-7 (2010) DOI: 10.1111/j.1651-2227.2010.01800.x
10. F Andrade, L Aldamiz-Echevarria, M Llarena, ML Couce: Sanfilippo syndrome: Overall review. Pediatr Int 57(3), 331-8 (2015) DOI: 10.1111/ped.12636
11. S Grant, E Cross, JE Wraith, S Jones, L Mahon, M Lomax, B Bigger, D Hare: Parental social support, coping strategies, resilience factors, stress, anxiety and depression levels in parents of children with MPS III (Sanfilippo syndrome) or children with intellectual disabilities (ID). J Inherit Metab Dis 36(2), 281-91 (2013) DOI: 10.1007/s10545-012-9558-y
12. GV Coppa, F Galeotti, L Zampini, T Galeazzi, L Padella, L Santoro, F Maccari, O Gabrielli, N Volpi: Mild mental retardation and low levels of urinary heparan sulfate in a patient with the attenuated phenotype of mucopolysaccharidosis type IIIA. Clin Biochem 46(7-8), 688-90 (2013) DOI: 10.1016/j.clinbiochem.2012.12.014
13. J Brady, A Trehan, D Landis, C Toro: Mucopolysaccharidosis type IIIB (MPS IIIB) masquerading as a behavioural disorder. BMJ Case Rep 2013 (2013) DOI: 10.1136/bcr-2013-009592
14. AG Saini, P Singhi, JK Sahu, SL Ganesan, S Vyas, S Rao, MU Sachdeva: Hyperactivity, unexplained speech delay, and coarse facies-is it Sanfilippo syndrome? J Child Neurol 29(8), NP9-12 (2014) DOI: 10.1177/0883073813491627
15. D Buhrman, K Thakkar, M Poe, ML Escolar: Natural history of Sanfilippo syndrome type A. J Inherit Metab Dis 37(3), 431-7 (2014) DOI: 10.1007/s10545-013-9661-8
16. V Delgadillo, M O'Callaghan Mdel, L Gort, MJ Coll, M Pineda: Natural history of Sanfilippo syndrome in Spain. Orphanet J Rare Dis 8, 189 (2013) DOI: 10.1186/1750-1172-8-189
17. RK Rumsey, K Rudser, K Delaney, M Potegal, CB Whitley, E Shapiro: Acquired autistic behaviors in children with mucopolysaccharidosis type IIIA. J Pediatr 164(5), 1147-1151 (2014) DOI: 10.1016/j.jpeds.2014.01.007
18. EM Cross, S Grant, S Jones, BW Bigger, JE Wraith, LV Mahon, M Lomax, DJ Hare: An investigation of the middle and late behavioural phenotypes of mucopolysaccharidosis type-III. J Neurodev Disord 6(1), 46 (2014) DOI: 10.1186/1866-1955-6-46
19. S Mellara Tde, DT Azevedo, G Faria, P Nelson Filho, AM Queiroz, LG Brentegani: Dental findings and management in a mucopolysaccharidosis type IIIB patient. J Dent Child (Chic) 79(3), 176-80 (2012)
20. J de Ruijter, M Maas, A Janssen, FA Wijburg: High prevalence of femoral head necrosis in mucopolysaccharidosis type III (Sanfilippo disease): a national, observational, crosssectional study. Mol Genet Metab 109(1), 49-53 (2013) DOI: 10.1016/j.ymgme.2013.03.004
21. A Jurecka, A Tylki-Szymanska: Gynecomastia in MPS IIIA boys: related to treatment or precocious puberty? Mol Genet Metab 111(2), 61-2 (2014) DOI: 10.1016/j.ymgme.2013.10.008
22. J Chiang, J Raiman, E Cutz, M Solomon, S Dell: Tachypnea of infancy as the first sign of Sanfilippo syndrome. Pediatrics 134(3), e884-8 (2014). DOI: 10.1542/peds.2013-2765
23. R Sharkia, M Mahajnah, A Zalan, C Sourlis, P Bauer, L Schols: Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report. J Med Case Rep 8, 78 (2014) DOI: 10.1186/1752-1947-8-78
24. LV Mahon, M Lomax, S Grant, E Cross, DJ Hare, JE Wraith, S Jones, B Bigger, K Langford-Smith, M Canal: Assessment of sleep in children with mucopolysaccharidosis type III. PLoS One 9(2), e84128 (2014) DOI: 10.1371/journal.pone.0084128
25. S Garbuzova-Davis, S Mirtyl, SA Sallot, DG Hernandez-Ontiveros, E Haller, PR Sanberg: Blood-brain barrier impairment in MPS III patients. BMC Neurol 13, 174 (2013) DOI: 10.1186/1471-2377-13-174
26. J de Ruijter, L Broere, MF Mulder, AT van der Ploeg, ME Rubio-Gozalbo, SB Wortmann, G Visser, FA Wijburg: Growth in patients with mucopolysaccharidosis type III (Sanfilippo disease). J Inherit Metab Dis 37(3), 447-54 (2014) DOI: 10.1007/s10545-013-9658-3
27. NS Sidhu, K Schreiber, K Propper, S Becker, I Uson, GM Sheldrick, J Gartner, R Kratzner, R Steinfeld: Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA. Acta Crystallogr D Biol Crystallogr 70(Pt 5), 1321-35 (2014) DOI: 10.1107/S1399004714002739
28. A Langford-Smith, KJ Langford-Smith, SA Jones, RF Wynn, JE Wraith, FL Wilkinson, BW Bigger: Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test. PLoS One 6(10), e25717 (2011) DOI: 10.1371/journal.pone.0025717
29. A Langford-Smith, M Malinowska, KJ Langford-Smith, G Wegrzyn, S Jones, R Wynn, JE Wraith, FL Wilkinson, BW Bigger: Hyperactive behaviour in the mouse model of mucopolysaccharidosis IIIB in the open field and home cage environments. Genes Brain Behav 10(6), 673-82 (2011) DOI: 10.1111/j.1601-183X.2011.00706.x
30. DJ Keating, MA Winter, KM Hemsley, KD Mackenzie, EH Teo, JJ Hopwood, DA Brooks, EJ Parkinson-Lawrence: Exocytosis is impaired in mucopolysaccharidosis IIIA mouse chromaffin cells. Neuroscience 227, 110-8 (2012) DOI: 10.1016/j.neuroscience.2012.09.034
31. H Fu, JD Bartz, RL Stephens Jr, DM McCarty: Peripheral nervous system neuropathology and progressive sensory impairments in a mouse model of Mucopolysaccharidosis IIIB. PLoS One 7(9), e45992 (2012) DOI: 10.1371/journal.pone.0045992
32. C Martins, H Hulkova, L Dridi, V Dormoy-Raclet, L Grigoryeva, Y Choi, A Langford-Smith, FL Wilkinson, K Ohmi, G DiCristo, E Hamel, J Ausseil, D Cheillan, A Moreau, E Svobodova, Z Hajkova, M Tesarova, H Hansikova, BW Bigger, M Hrebicek, AV Pshezhetsky: Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model. Brain 138(Pt 2), 336-55 (2015) DOI: 10.1093/brain/awu355
33. EE Mohammed, EM Snella, MM Rutz-Mendicino, FD Echevarria, R Awedikian, EM Whitley, NM Ellinwood: Accelerated clinical disease and pathology in mucopolysaccharidosis type IIIB and GalNAc transferase double knockout mice. Mol Genet Metab 107(1-2), 129-35 (2012) DOI: 10.1016/j.ymgme.2012.07.017
34. J de Ruijter, MH de Ru, T Wagemans, L Ijlst, AM Lund, PJ Orchard, GB Schaefer, FA Wijburg, N van Vlies: Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III. Mol Genet Metab 107(4), 705-10 (2012) DOI: 10.1016/j.ymgme.2012.09.024
35. G Dawson, M Fuller, KM Helmsley, JJ Hopwood: Abnormal gangliosides are localized in lipid rafts in Sanfilippo (MPS3a) mouse brain. Neurochem Res 37(6), 1372-80 (2012) DOI: 10.1007/s11064-012-0761-x
36. FL Wilkinson, RJ Holley, KJ Langford-Smith, S Badrinath, A Liao, A Langford-Smith, JD Cooper, SA Jones, JE Wraith, RF Wynn, CL Merry, BW Bigger: Neuropathology in mouse models of mucopolysaccharidosis type I, IIIA and IIIB. PLoS One 7(4), e35787 (2012) DOI: 10.1371/journal.pone.0035787
37. J. Bruyere, E. Roy, J. Ausseil, T. Lemonnier, G. Teyre, D. Bohl, S. Etienne-Manneville, H. Lortat-Jacob, J. M. Heard and S. Vitry: Heparan sulfate saccharides modify focal adhesions: implication in mucopolysaccharidosis neuropathophysiology. J Mol Biol, 427(4), 775-91 (2015) DOI: 10.1016/j.jmb.2014.09.012
38. S Trudel, E Trecherel, C Gomila, M Peltier, M Aubignat, B Gubler, P Morliere, JM Heard, J Ausseil: Oxidative stress is independent of inflammation in the neurodegenerative Sanfilippo syndrome type B. J Neurosci Res 93(3), 424-32 (2015) DOI: 10.1002/jnr.23497
39. C Palmieri, U Giger, P Wang, M Pizarro, HL Shivaprasad: Pathological and biochemical studies of mucopolysaccharidosis type IIIB (Sanfilippo syndrome type B) in juvenile emus (Dromaius novaehollandiae). Vet Pathol 52(1), 160-9 (2015) DOI: 10.1177/0300985814529314
40. J de Ruijter, L Ijlst, W Kulik, H van Lenthe, T Wagemans, N van Vlies, FA Wijburg: Heparan sulfate derived disaccharides in plasma and total urinary excretion of glycosaminoglycans correlate with disease severity in Sanfilippo disease. J Inherit Metab Dis 36(2), 271-9 (2013) DOI: 10.1007/s10545-012-9535-5
41. KA Delaney, KR Rudser, BD Yund, CB Whitley, PA Haslett, EG Shapiro: Methods of neurodevelopmental assessment in children with neurodegenerative disease: Sanfilippo syndrome. JIMD Rep 13, 129-37 (2014) DOI: 10.1007/8904-2013-269
42. EG Shapiro, I Nestrasil, A Ahmed, A Wey, KR Rudser, KA Delaney, RK Rumsey, PA Haslett, CB Whitley, M Potegal: Quantifying behaviors of children with Sanfilippo syndrome: the Sanfilippo behavior rating scale. Mol Genet Metab 114(4), 594-8 (2015) DOI: 10.1016/j.ymgme.2015.02.008
43. CK Chuang, HY Lin, TJ Wang, CC Tsai, HL Liu SP Lin: A modified liquid chromatography/tandem mass spectrometry method for predominant disaccharide units of urinary glycosaminoglycans in patients with mucopolysaccharidoses. Orphanet J Rare Dis 9, 135 (2014) DOI: 10.1186/s13023-014-0135-3
44. S Tomatsu, MA Gutierrez, T Ishimaru, OM Pena, AM Montano, H Maeda, S Velez-Castrillon, T Nishioka, AA Fachel, A Cooper, M Thornley, E Wraith, LA Barrera, LS Laybauer, R Giugliani, IV Schwartz, GS Frenking, M Beck, SG Kircher, E Paschke, S Yamaguchi, K Ullrich, K Isogai, Y Suzuki, T Orii, A Noguchi: Heparan sulfate levels in mucopolysaccharidoses and mucolipidoses. J Inherit Metab Dis 28(5), 743-57 (2005) DOI: 10.1007/s10545-005-0069-y
45. T Oguma, S Tomatsu, AM Montano, O Okazaki: Analytical method for the determination of disaccharides derived from keratan, heparan, and dermatan sulfates in human serum and plasma by high-performance liquid chromatography/turbo ionspray ionization tandem mass spectrometry. Anal Biochem 368(1), 79-86 (2007) DOI: 10.1016/j.ab.2007.05.016
46. S Tomatsu, AM Montano, T Oguma, VC Dung, H Oikawa, ML Gutierrez, S Yamaguchi, Y Suzuki, M Fukushi, LA Barrera, K Kida, M Kubota T Orii: Validation of disaccharide compositions derived from dermatan sulfate and heparan sulfate in mucopolysaccharidoses and mucolipidoses II and III by tandem mass spectrometry. Mol Genet Metab 99(2), 124-31 (2010) DOI: 10.1016/j.ymgme.2009.10.001
47. S Tomatsu, AM Montano, T Oguma, VC Dung, H Oikawa, TG de Carvalho, ML Gutierrez, S Yamaguchi, Y Suzuki, M Fukushi, N Sakura, L Barrera, K Kida, M Kubota, T Orii: Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I. J Inherit Metab Dis 33(2), 141-50 (2010) DOI: 10.1007/s10545-009-9036-3
48. DJ Rowan, S Tomatsu, JH Grubb, AM Montano, WS Sly: Assessment of bone dysplasia by micro-CT and glycosaminoglycan levels in mouse models for mucopolysaccharidosis type I, IIIA, IVA, and VII. J Inherit Metab Dis 36(2), 235-46 (2013) DOI: 10.1007/s10545-012-9522-x
49. S Tomatsu, T Fujii, M Fukushi, T Oguma, T Shimada, M Maeda, K Kida, Y Shibata, H Futatsumori, AM Montano, RW Mason, S Yamaguchi, Y Suzuki, T Orii: Newborn screening and diagnosis of mucopolysaccharidoses. Mol Genet Metab 110(1-2), 42-53 (2013) DOI: 10.1016/j.ymgme.2013.06.007
50. S Tomatsu, T Shimada, RW Mason, J Kelly, WA LaMarr, E Yasuda, Y Shibata, H Futatsumori, AM Montano, S Yamaguchi, Y Suzuki, T Orii: Assay for glycosaminoglycans by tandem mass spectrometry and its applications. J Anal Bioanal Tech 2014(Suppl 2), 006 (2014) DOI: 10.4172/2155-9872. S2-006
51. T Shimada, J Kelly, WA LaMarr, N van Vlies, E Yasuda, RW Mason, W Mackenzie, F Kubaski, R Giugliani, Y Chinen, S Yamaguchi, Y Suzuki, KE Orii, T Fukao, T Orii, S Tomatsu: Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses. Mol Genet Metab 113(1-2), 92-9 (2014) DOI: 10.1016/j.ymgme.2014.07.008
52. S Tomatsu, T Shimada, RW Mason, AM Montano, J Kelly, WA LaMarr, F Kubaski, R Giugliani, A Guha, E Yasuda, W Mackenzie, S Yamaguchi, Y Suzuki, T Orii: Establishment of glycosaminoglycan assays for mucopolysaccharidoses. Metabolites 4(3), 655-79 (2014) DOI: 10.3390/metabo4030655
53. S Tomatsu, F Kubaski, K Sawamoto, RW Mason, E Yasuda, T Shimada, AM Montano, S Yamaguchi, Y Suzuki, T Orii: Newborn screening and diagnosis of mucopolysaccharidoses: application of tandem mass spectrometry. Nihon Masu Sukuriningu Gakkai Shi 24, 19-37 (2014) DOI: 10.1016/j.ymgme.2013.12.258
54. OA Bodamer, R Giugliani, T Wood: The laboratory diagnosis of mucopolysaccharidosis III (Sanfilippo syndrome): A changing landscape. Mol Genet Metab 113(1-2), 34-41 (2014) DOI: 10.1016/j.ymgme.2014.07.013
55. KG Ugrinov, SD Freed, CL Thomas, SW Lee: A multiparametric computational algorithm for comprehensive assessment of genetic mutations in mucopolysaccharidosis type IIIA (Sanfilippo syndrome). PLoS One 10(3), e0121511 (2015) DOI: 10.1371/journal.pone.0121511
56. RW Pfeifer, BR Felice, RB Boyd, MT Butt, JA Ruiz, MW Heartlein, P Calias: Safety evaluation of chronic intrathecal administration of heparan N-sulfatase in juvenile cynomolgus monkeys. Drug Deliv Transl Res 2(3), 187-200 (2012) DOI: 10.1007/s13346-011-0043-1
57. NR Marshall, S Hassiotis, B King, T Rozaklis, PJ Trim, SK Duplock, LK Winner, H Beard, MF Snel, RD Jolly, JJ Hopwood, KM Hemsley: Delivery of therapeutic protein for prevention of neurodegenerative changes: comparison of different CSF-delivery methods. Exp Neurol 263, 79-90 (2015) DOI: 10.1016/j.expneurol.2014.09.008
58. H Beard, AJ Luck, S Hassiotis, B King, PJ Trim, MF Snel, JJ Hopwood, KM Hemsley: Determination of the role of injection site on the efficacy of intra-CSF enzyme replacement therapy in MPS IIIA mice. Mol Genet Metab 115(1), 33-40 (2015) DOI: 10.1016/j.ymgme.2015.03.002
59. S Hassiotis, H Beard, A Luck, PJ Trim, B King, MF Snel, JJ Hopwood, KM Hemsley: Disease stage determines the efficacy of treatment of a paediatric neurodegenerative disease. Eur J Neurosci, 39(12), 2139-50 (2014) DOI: 10.1111/ejn. 12557
60. NC Sorrentino, L D'Orsi, I Sambri, E Nusco, C Monaco, C Spampanato, E Polishchuk, P Saccone, E De Leonibus, A Ballabio, A Fraldi: A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA. EMBO Mol Med 5(5), 675-90 (2013) DOI: 10.1002/emmm.201202083
61. SH Kan, LA Troitskaya, CS Sinow, K Haitz, AK Todd, A Di Stefano, SQ Le, PI Dickson, BL Tippin: Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of alpha-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts. Biochem J 458(2), 281-9 (2014) DOI: 10.1042/BJ20130845
62. SH Kan, M Aoyagi-Scharber, SQ Le, J Vincelette, K Ohmi, S Bullens, DJ Wendt, TM Christianson, PM Tiger, JR Brown, R Lawrence, BK Yip, J Holtzinger, A Bagri, D Crippen-Harmon, KN Vondrak, Z Chen, CM Hague, JC Woloszynek, DS Cheung, KA Webster, EG Adintori, MJ Lo, W Wong, PA Fitzpatrick, JH LeBowitz, BE Crawford, S Bunting, PI Dickson, EF Neufeld: Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB. Proc Natl Acad Sci U S A 111(41), 14870-5 (2014) DOI: 10.1073/pnas.1416660111
63. DP Rastall, A Amalfitano: Recent advances in gene therapy for lysosomal storage disorders. Appl Clin Genet 8, 157-169 (2015) DOI: 10.2147/TACG. S57682
64. A Ruzo, S Marco, M Garcia, P Villacampa, A Ribera, E Ayuso, L Maggioni, F Mingozzi, V Haurigot, F Bosch: Correction of pathological accumulation of glycosaminoglycans in central nervous system and peripheral tissues of MPSIIIA mice through systemic AAV9 gene transfer. Hum Gene Ther 23(12), 1237-46 (2012) DOI: 10.1089/hum.2012.029
65. CD Heldermon, EY Qin, KK Ohlemiller, ED Herzog, JR Brown, C Vogler, W Hou, JL Orrock, BE Crawford, MS Sands: Disease correction by combined neonatal intracranial AAV and systemic lentiviral gene therapy in Sanfilippo syndrome type B mice. Gene Ther 20(9), 913-21 (2013) DOI: 10.1038/gt.2013.14
66. DA Murrey, BJ Naughton, FJ Duncan, AS Meadows, TA Ware, K Campbell, WG Bremer, C Walker, L Goodchild, B Bolon, K La Perle, K Flanigan, KL McBride, DM McCarty, H Fu: Feasibility and safety of systemic rAAV9-hNAGLU delivery for treating MPS IIIB: Toxicology, bio-distribution and immunological assessments in primates. Hum Gene Ther Clin Dev 25(2), 72-84 (2014) DOI: 10.1089/humc.2013.208
67. M Tardieu, M Zerah, B Husson, S de Bournonville, K Deiva, C Adamsbaum, F Vincent, M Hocquemiller, C Broissand, V Furlan, A Ballabio, A Fraldi, RG Crystal, T Baugnon, T Roujeau, JM Heard O Danos: Intracerebral administration of adenoassociated viral vector serotype rh.10 carrying human SGSH and SUMF1 cDNAs in children with mucopolysaccharidosis type IIIA disease: results of a phase I/II trial. Hum Gene Ther 25(6), 506-16 (2014) DOI: 10.1089/hum.2013.238
68. M Quiviger, A Arfi, D Mansard, L Delacotte, M Pastor, D Scherman, C Marie: High and prolonged sulfamidase secretion by the liver of MPS-IIIA mice following hydrodynamic tail vein delivery of antibiotic-free pFAR4 plasmid vector. Gene Ther 21(12), 1001-7 (2014) DOI: 10.1038/gt.2014.75
69. J Jakobkiewicz-Banecka, E Piotrowska, M Gabig-Ciminska, E Borysiewicz, M Slominska-Wojewodzka, M Narajczyk, A Wegrzyn, G Wegrzyn: Substrate reduction therapies for mucopolysaccharidoses. Curr Pharm Biotechnol 12(11), 1860-5 (2011) DOI: 10.2174/138920111798376932
70. AL Roberts, BJ Thomas, AS Wilkinson, JM Fletcher, S Byers: Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA. Pediatr Res 60(3), 309-14 (2006) DOI: 10.1203/01.pdr.0000233037.00707.da
71. AL Roberts, MH Rees, S Klebe, JM Fletcher, S Byers: Improvement in behaviour after substrate deprivation therapy with rhodamine B in a mouse model of MPS IIIA. Mol Genet Metab 92(1-2), 115-21 (2007) DOI: 10.1016/j.ymgme.2007.06.016
72. AL Roberts, JM Fletcher, L Moore, S Byers: Trans-generational exposure to low levels of rhodamine B does not adversely affect litter size or liver function in murine mucopolysaccharidosis type IIIA. Mol Genet Metab 101(2-3), 208-13 (2010) DOI: 10.1016/j.ymgme.2010.06.008
73. AL Derrick-Roberts, W Marais, S Byers: Rhodamine B and 2-acetamido-1, 3, 6-tri-Oacetyl-4-deoxy-4-fluoro-D-glucopyranose (F-GlcNAc) inhibit chondroitin/dermatan and keratan sulphate synthesis by different mechanisms in bovine chondrocytes. Mol Genet Metab 106(2), 214-20 (2012) DOI: 10.1016/j.ymgme.2012.04.002
74. X Kaidonis, WC Liaw, AD Roberts, M Ly, D Anson, S Byers: Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses. Eur J Hum Genet 18(2), 194-9 (2010) DOI: 10.1038/ejhg.2009.143
75. D Dziedzic, G Wegrzyn, J Jakobkiewicz-Banecka: Impairment of glycosaminoglycan synthesis in mucopolysaccharidosis type IIIA cells by using siRNA: a potential therapeutic approach for Sanfilippo disease. Eur J Hum Genet 18(2), 200-5 (2010) DOI: 10.1038/ejhg.2009.144
76. E Piotrowska, J Jakobkiewicz-Banecka, S Baranska, A Tylki-Szymanska, B Czartoryska, A Wegrzyn, G Wegrzyn: Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. Eur J Hum Genet 14(7), 846-52 (2006) DOI: 10.1038/sj.ejhg.5201623
77. J Jakobkiewicz-Banecka, E Piotrowska, M Narajczyk, S Baranska, G Wegrzyn: 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 16, 26 (2009) DOI: 10.1186/1423-0127-16-26
78. A Wegrzyn: Gene expression-targeted isoflavone therapy. IUBMB Life 64(4), 307-15 (2012) DOI: 10.1002/iub.1007
79. A Kloska, J Jakobkiewicz-Banecka, M Narajczyk, Z Banecka-Majkutewicz, G Wegrzyn: Effects of flavonoids on glycosaminoglycan synthesis: implications for substrate reduction therapy in Sanfilippo disease and other mucopolysaccharidoses. Metab Brain Dis 26(1), 1-8 (2011) DOI: 10.1007/s11011-011-9233-2
80. A Arfi, M Richard, C Gandolphe, D Scherman: Storage correction in cells of patients suffering from mucopolysaccharidoses types IIIA and VII after treatment with genistein and other isoflavones. J Inherit Metab Dis 33(1), 61-7 (2010) DOI: 10.1007/s10545-009-9029-2
81. T Otomo, MA Hossain, K Ozono, N Sakai: Genistein reduces heparan sulfate accumulation in human mucolipidosis II skin fibroblasts. Mol Genet Metab 105(2), 266-9 (2012) DOI: 10.1016/j.ymgme.2011.10.015
82. SD Kingma, T Wagemans, L IJlst, FA Wijburg, N van Vlies: Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models. J Inherit Metab Dis 37(5), 813-21 (2014) DOI: 10.1007/s10545-014-9703-x
83. M Moskot, J Jakobkiewicz-Banecka, A Kloska, E Smolinska, P Mozolewski, M Malinowska, M Rychlowski, B Banecki, G Wegrzyn, M Gabig-Ciminska: Modulation of expression of genes involved in glycosaminoglycan metabolism and lysosome biogenesis by flavonoids. Sci Rep 5, 9378 (2015) DOI: 10.1038/srep09378
84. M Moskot, S Montefusco, J Jakobkiewicz-Banecka, P Mozolewski, A Wegrzyn, D Di Bernardo, G Wegrzyn, DL Medina, A Ballabio, M Gabig-Ciminska: The phytoestrogen genistein modulates lysosomal metabolism and transcription factor EB (TFEB) activation. J Biol Chem 289(24), 17054-69 (2014) DOI: 10.1074/jbc. M114.555300
85. M Malinowska, FL Wilkinson, W Bennett, KJ Langford-Smith, HA O'Leary, JJakobkiewicz-Banecka, RWynn, JE Wraith, G Wegrzyn, BW Bigger: Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. Mol Genet Metab 98(3), 235-42 (2009) DOI: 10.1016/j.ymgme.2009.06.013
86. A Friso, R Tomanin, M Salvalaio, M Scarpa: Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. Br J Pharmacol 159(5), 1082-91 (2010) DOI: 10.1111/j.1476-5381.2009.00565.x
87. M Malinowska, FL Wilkinson, KJ Langford-Smith, A Langford-Smith, JR Brown, BE Crawford, MT Vanier, G Grynkiewicz, RF Wynn, JE Wraith, G Wegrzyn, BW Bigger: Genistein improves neuropathology and corrects behaviour in a mouse model of neurodegenerative metabolic disease. PLoS One 5(12), e14192 (2010) DOI: 10.1371/journal.pone.0014192
88. SD Kingma, T Wagemans, L IJlst, J Seppen, MJ Gijbels, FA Wijburg, N van Vlies: Adverse effects of genistein in a mucopolysaccharidosis type I mouse model. JIMD Rep 23, 77-83 (2015) DOI: 10.1007/8904-2015-432
89. E Piotrowska, J Jakobkiewicz-Banecka, A Tylki-Szymanska, A Liberek, A Maryniak, M Malinowska, B Czartoryska, E Puk, A Kloska, T Liberek, S Baranska, A Wegrzyn, G Wegrzyn: 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 69(2), 166-79 (2008) DOI: 10.1016/j.curtheres.2008.04.002
90. E Piotrowska, J Jakobkiewicz-Banecka, A Maryniak, A Tylki-Szymanska, E Puk, A Liberek, A Wegrzyn, B Czartoryska, M Slominska-Wojewodzka, G. Wegrzyn: Twoyear 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 17(4), CR196-202 (2011) DOI: 10.12659/MSM.881715
91. V Malinova, G Wegrzyn, M Narajczyk: The use of elevated doses of genistein-rich soy extract in the gene expression-targeted isoflavone therapy for Sanfilippo disease patients. JIMD Rep 5, 21-5 (2012) DOI: 10.1007/8904-2011-87
92. J Marucha, A Tylki-Szymanska, J Jakobkiewicz-Banecka, E Piotrowska, A Kloska, B Czartoryska, G Wegrzyn: Improvement in the range of joint motion in seven patients with mucopolysaccharidosis type II during experimental gene expressiontargeted isoflavone therapy (GET IT). Am J Med Genet A 155 A (9), 2257-62 (2011) DOI: 10.1002/ajmg.a.34146
93. V Delgadillo, M O'Callaghan Mdel, R Artuch, R Montero, M Pineda: Genistein supplementation in patients affected by Sanfilippo disease. J Inherit Metab Dis 34(5), 1039-44 (2011) DOI: 10.1007/s10545-011-9342-4
94. J de Ruijter, MJ Valstar, M Narajczyk, G Wegrzyn, W Kulik, L Ijlst, T Wagemans, WM van der Wal, FA Wijburg: Genistein in Sanfilippo disease: a randomized controlled crossover trial. Ann Neurol 71(1), 110-20 (2012) DOI: 10.1002/ana.22643
95. KH Kim, C Dodsworth, A Paras, BK Burton: High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system. Mol Genet Metab 109(4), 382-5 (2013) DOI: 10.1016/j.ymgme.2013.06.012
96. TM Cox, JM Aerts, G Andria, M Beck, N Belmatoug, B Bembi, R Chertkoff, S Vom Dahl, D Elstein, A Erikson, M Giralt, R Heitner, C Hollak, M Hrebicek, S Lewis, A Mehta, GM Pastores, A Rolfs, MC Miranda, A Zimran: 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(6), 513-26 (2003) DOI: 10.1023/A:1025902113005
97. KA Lyseng-Williamson: Miglustat: a review of its use in Niemann-Pick disease type C. Drugs 74(1), 61-74 (2014) DOI: 10.1007/s40265-013-0164-6
98. N Guffon, S Bin-Dorel, E Decullier, C Paillet, J Guitton, A Fouilhoux: Evaluation of miglustat treatment in patients with type III mucopolysaccharidosis: a randomized, double-blind, placebo-controlled study. J Pediatr 159(5), 838-844 (2011) DOI: 10.1016/j.jpeds.2011.04.040
99. L Welling, JP Marchal, P van Hasselt, AT van der Ploeg, FA Wijburg and JJ Boelens: Early umbilical cord blood-derived stem cell transplantation does not prevent neurological deterioration in mucopolysaccharidosis type III. JIMD Rep 18, 63-8 (2015) DOI: 10.1007/8904-2014-350
100. AE Willing, SN Garbuzova-Davis, O Zayko, HM Derasari, AE Rawls, CR James, RF Mervis, CD Sanberg, N Kuzmin-Nichols, PR Sanberg: Repeated administrations of human umbilical cord blood cells improve disease outcomes in a mouse model of Sanfilippo syndrome type III B. Cell Transplant 23(12), 1613-30 (2014) DOI: 10.3727/096368914X676916
101. L Matalonga, A Arias, MJ Coll, J Garcia-Villoria, L Gort, A Ribes: Treatment effect of coenzyme Q (10) and an antioxidant cocktail in fibroblasts of patients with Sanfilippo disease. J Inherit Metab Dis 37(3), 439-46 (2014) DOI: 10.1007/s10545-013-9668-1
102. M Fuller, JN Tucker, DL Lang, CJ Dean, MJ Fietz, PJ Meikle, JJ Hopwood: Screening patients referred to a metabolic clinic for lysosomal storage disorders. J Med Genet 48(6), 422-5 (2011) DOI: 10.1136/jmg.2010.088096
103. K Terry, A Linker: Distinction among four forms of Hurler syndrome. Proc Soc Exp Biol Med 115, 394-402 (1964) DOI: 10.3181/00379727-115-28923
104. G Malm, AM Lund, JE Mansson, A Heiberg: Mucopolysaccharidoses in the Scandinavian countries: incidence and prevalence. Acta Paediatr 97(11), 1577-81 (2008) DOI: 10.1111/j.1651-2227.2008.00965.x
105. DA Applegarth, JR Toone, RB Lowry: Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 105(1), e10 (2000) DOI: 10.1542/peds.105.1.e10
106. J Nelson: Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 101(3), 355-8 (1997) DOI: 10.1007/s004390050641
107. HY Lin, SP Lin, CK Chuang, DM Niu, MR Chen, FJ Tsai, MC Chao, PC Chiu, SJ Lin, LP Tsai, WL Hwu, JL Lin: Incidence of the mucopolysaccharidoses in Taiwan, 1984-2004. Am J Med Genet A 149 A (5), 960-4 (2009) DOI: 10.1002/ajmg.a.32781
108. B Heron, Y Mikaeloff, R Froissart, G Caridade, I Maire, C Caillaud, T Levade, B Chabrol, F Feillet, H Ogier, V Valayannopoulos, H Michelakakis, D Zafeiriou, L Lavery, E Wraith, O Danos, JM Heard, M Tardieu: Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece. Am J Med Genet A 155 A (1), 58-68 (2011) DOI: 10.1002/ajmg.a.33779
109. R Pinto, C Caseiro, M Lemos, L Lopes, A Fontes, H Ribeiro, E Pinto, E Silva, S Rocha, A Marcao, I Ribeiro, L Lacerda, G Ribeiro, O Amaral, MC Sa Miranda: Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 12(2), 87-92 (2004) DOI: 10.1038/sj.ejhg.5201044
110. A Jurecka, A Lugowska, A Golda, B Czartoryska, A Tylki-Szymanska: Prevalence rates of mucopolysaccharidoses in Poland. J Appl Genet 56(2), 205-10 (2015) DOI: 10.1007/s13353-014-0262-5
111. H Poupetova, J Ledvinova, L Berná, L Dvorakova, V Kozich, M Elleder: The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. J Inherit Metab Dis 33(4), 387-96 (2010) DOI: 10.1007/s10545-010-9093-7
112. PJ Meikle, JJ Hopwood, AE Clague, WF Carey: Prevalence of lysosomal storage disorders. JAMA 281(3), 249-54 (1999) DOI: 10.1001/jama.281.3.249
113. F Baehner, C Schmiedeskamp, F Krummenauer, E Miebach, M Bajbouj, C Whybra, A Kohlschutter, C Kampmann, M Beck: Cumulative incidence rates of the mucopolysaccharidoses in Germany. J Inherit Metab Dis 28(6), 1011-7 (2005) DOI: 10.1007/s10545-005-0112-z
114. BJ Poorthuis, RA Wevers, WJ Kleijer, JE Groener, JG de Jong, S van Weely, KE Niezen-Koning, OP van Diggelen: The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105(1-2), 151-6 (1999) DOI: 10.1007/s004399900075
115. PD Stenson, M Mort, EV Ball, K Shaw, A Philips, DN Cooper: The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine. Hum Genet 133, 1-9 (2014) DOI: 10.1007/s00439-013-1358-4