Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C

PLoS ONE

Volumn 4, Issue 10, 2009, Pages

  Feldhammer, Matthew ^a   Durand, Stéphanie ^a   Pshezhetsky, Alexey V ^a,b  

^a UNIVERSITÉ DE MONTRÉAL   (Canada)

^b MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLTRANSFERASE; HEPARAN SULFATE; HGSNAT PROTEIN, HUMAN;

ALTERNATIVE RNA SPLICING; ANIMAL; ARTICLE; CATALYSIS; CELL STRAIN COS1; CERCOPITHECUS; CHEMISTRY; ENDOPLASMIC RETICULUM; FIBROBLAST; GENETIC POLYMORPHISM; GENETICS; HUMAN; LYSOSOME; METABOLISM; PROTEIN CONFORMATION; PROTEIN FOLDING; SANFILIPPO SYNDROME;

ACETYLTRANSFERASES; ALTERNATIVE SPLICING; ANIMALS; CATALYSIS; CERCOPITHECUS AETHIOPS; COS CELLS; ENDOPLASMIC RETICULUM; FIBROBLASTS; HEPARITIN SULFATE; HUMANS; LYSOSOMES; MUCOPOLYSACCHARIDOSIS III; POLYMORPHISM, GENETIC; PROTEIN CONFORMATION; PROTEIN FOLDING;

EID: 77949322837     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0007434     Document Type: Article

References (26)

1. Neufeld EF, Muenzer J, (2001) The mucopolysaccharidoses in Scriver CR, Beaudet AL, Sly WS, Valle D, Editors. The Metabolic and Molecular Basis of Inherited Disease New York McGraw-Hill pp. 3421-3452.
2. Bartsocas C, Grobe H, van de Kamp JJP, von Figura K, Kresse H, et al.(1979) Sanfilippo type C disease: clinical findings in four patients with a new variant of mucopolysaccharidosis III. Eur J Pediatr 130: 251-258.
3. Valstar MJ, Ruijter, GJG, van Diggelen OP, Poorthuis BJ, Wijburg FA, (2008) Sanfilippo syndrome: A mini-review. J Inherit Metab Dis 31: 240-252.
4. Berger-Plantinga EG, Vanneste JA, Groener JE, van Schooneveld MJ, (2004) Adult-onset dementia and retinitis pigmentosa due to mucopolysaccharidosis III-C in two sisters. J Neurol 251: 479-481.
5. Meikle PJ, Hopwood JJ, Clague AE, Carey WF, (1999) Prevalence of lysosomal storage disorders. JAMA 281: 249-254.
6. Pinto R, Caseiro C, Lemos M, Lopes L, Fontes A, et al.(2004) Prevalence of lysosomal storage diseases in Portugal. Eur J Hum Genet 12: 87-92.
7. Poorthuis BJ, Wevers RA, Kleijer WJ, Groener JE, de Jong JG, et al.(1999) The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105: 151-156.
8. Klein U, Kresse H, von Figura K, (1978) Sanfilippo syndrome type C: deficiency of acetyl-CoA: α-glucosaminide N-acetyltransferase in skin fibroblasts. Proc Natl Acad Sci U S A 75: 5185-5189.
9. Klein U, van de Kamp JJP, von Figura K, Pohlmann R, (1981) Sanfilippo syndrome type C: assay for acetyl-CoA: α-glucosaminide N-acetyltransferase in leukocytes for detection of homozygous and heterozygous individuals. Clin Genet 20: 55-59.
10. Bame KJ, Rome LH, (1986b) Genetic evidence for transmembrane acetylation by lysosomes. Science 233: 1087-1089.
11. Hřebíček M, Mrázová L, Seyrantepe V, Durand S, Roslin NM, et al.(2006) Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet 79: 807-819.
12. Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, et al.(2006) Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C). Am J Hum Genet 79: 738-744.
13. Feldhammer M, Durand S, Mrázová L, Boucher RM, Laframboise R, et al.(2009) Sanfilippo Syndrome Type C: Mutation spectrum in the heparan sulfate acetyl-CoA: A-glucosaminide N-acetyltransferase (HGSNAT) gene. Hum Mut 30(6): 918-925.
14. Rigaut G, Shevchenko A, Rutz B, Wilm M, Mann M, et al.(1999) A generic protein purification method for protein complex characterization and proteome exploration. Nat Biotechnol 17(10): 1030-1032.
15. Puig O, Caspary F, Rigaut G, Rutz B, Bouveret E, et al.(2001) The tandem affinity purification (TAP) method: a general procedure of protein complex purification. Methods 24(3): 218-219.
16. Maley F, Trimble RB, Tarentine AL, Plummer TH Jr, (1989) Characterization of glycoproteins and their associated oligosaccharides throgh the use of endoglycosidases. Analytical biochemistry 180(2): 195-204.
17. Seyrantepe V, Tihy F, Pshezhetsky AV, (2006) The microcell-mediated transfer of human chromosome 8 restores the deficient N-acetylytransferase activity in skin fibroblasts of Mucopolysaccharidosis type IIIC patients. Hum Genet 120(2): 293-296.
18. Gregersen N, Bross P, Andrese BS, Pedersen CB, Corydon TJ, et al.(2001) The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disorders. J Inherit Metab Dis 24(2): 189-212.
19. Ruijter GJ, Valstar MJ, van de Kamp JM, van der Helm RM, Durand S, et al.(2008) Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands. Mol Genet Metab 93: 104-111.
20. Fan J-Q, (2003) A contradictory treatment for lysosomal storage disorders: inhibitors enhance mutant enzyme activity. Trends Pharmacol Sci 24: 355-360.
21. Desnick RJ, (2004) Enzyme replacement and enhancement therapies for lysosomal diseases. J Inherit Metab Dis 27(3): 385-410.
22. Fedele AO, Filocamo M, Di Rocco M, Sersale G, Lübke T, et al.(2007) Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Hum Mutat 28: 523.
23. He W, Voznyi YaV, Huijmans JG, Geilen GC, Karpova EA, et al.(1994) Prenatal diagnosis of Sanfilippo disease type C using a simple fluorometric enzyme assay. Prenat Diagn 14(1): 17-22.
24. Ausseil J, Landry K, Seyrantepe V, Trudel S, Mazur A, et al.(2006) An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: a candidate molecule for MPS IIIC. Mol Genet Metab 87: 22-31.
25. Bradford MM, (1976) A rapid and sensitive method for the quatitation of microgram quantities of protein utilizing the principle of protein dye binding. Anal Biochem 72: 248-254.
26. Spyropoulos IC, Liakopoulos TD, Bagos PG, Hamodrakas SJ, (2004) TMRPres2D: high quality visual representation of transmembrane protein models. Bioinformatics 20: 3258-3260.