Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of α-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation

Human Molecular Genetics

Volumn 10, Issue 3, 2001, Pages 291-299

  Keeling, Kim M ^a   Brooks, Doug A ^c   Hopwood, John J ^c   Li, Peining ^a   Thompson, Jerry N ^a   Bedwell, David M ^a,b  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b University of Alabama at Birmingham   (United States)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

AMINOGLYCOSIDE DERIVATIVE; GENTAMICIN; GLYCOSAMINOGLYCAN; LEVO IDURONIDASE; LYSOSOME ENZYME;

ANIMAL CELL; ARTICLE; CELL CULTURE; CELL VACUOLE; CONTROLLED STUDY; DISEASE SEVERITY; ENZYME ACTIVITY; FIBROBLAST CULTURE; GENE MUTATION; GENE REPRESSION; HETEROZYGOTE; HUMAN; HUMAN CELL; HURLER SYNDROME; IMMUNOASSAY; LYSOSOME STORAGE DISEASE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ASSAY; RABBIT; RETICULOCYTE; STOP CODON;

ANTI-BACTERIAL AGENTS; CELL LINE; CODON, TERMINATOR; DOSE-RESPONSE RELATIONSHIP, DRUG; FIBROBLASTS; GENTAMICINS; GLYCOSAMINOGLYCANS; HSP70 HEAT-SHOCK PROTEINS; HUMANS; IDURONIDASE; LYSOSOMES; MUCOPOLYSACCHARIDOSIS I; MUTATION;

ANIMALIA; ORYCTOLAGUS CUNICULUS;

EID: 0035253591     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (37)

1. Suppression of a CFTR premature stop mutation in a bronchial epithelial cell line
2. Aminoglycoside antibiotics restore CFTR function by overcoming premature stop mutations
3. A pilot study of the effect of gentamicin on nasal potential difference measurements in cystic fibrosis patients carrying stop mutations
4. Gentamicin suppresses premature stop mutations in cystic fibrosis patients
5. Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice
6. The mucopolysaccharidoses
7. Inheritable disorders of connective tissue
8. A. Mucopolysaccharidosis type I: Identification of 8 novel mutations and determination of the frequency of the two common α-L-iduronidase mutations (W402X and Q70X) among European patients
9. Molecular genetic defect underlying α-L-iduronidase pseudodeficiency
10. Immunoquantification and enzyme kinetics of α-L-iduronidase in cultured fibroblasts from normal controls and mucopolysaccharidosis type I patients
11. A nonpathologic allelle (Iw) for low α-L-iduronidase enzyme activity vis-a-vis prenatal diagnosis of Hurler syndrome
12. Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system
13. Translational termination efficiency in mammals is influenced by the base following the stop codon
14. Age-related alterations in cultured human fibroblast membrane structure and function
15. Genotype-phenotype correlations in mucopolysaccharidosis type I using enzyme kinetics, immunoquantification and in vitro turnover studies
16. 4-glycosaminoglycans
17. Structural origins of gentamicin antibiotic action
18. The diagnosis of mucopolysaccharidoses by electron microscopy of skin biopsies
19. Roles of molecular chaperones in cytoplasmic protein folding
20. Long-term outcome of Hurler syndrome following bone marrow transplantation
21. Follow-up of nine patients with Hurler syndrome after bone marrow transplantation
22. Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype
23. Outcome of unrelated donor bone marrow transplantation in 40 children with Hurler syndrome
24. Enzyme replacement therapy in MPS I: Current status of patients up to 104 weeks of therapy
25. Enzymatic correction and cross-correction of mucopolysaccharidosis type I fibroblasts by adeno-associated virus-mediated transduction of the α-L-iduronidase gene
26. Long-term in vitro correction of α-L-iduronidase deficiency (Hurler syndrome) in human bone marrow
27. Retrovirus-mediated transfer of the human α-L-iduronidase cDNA into human hematopoietic progenitor cells leads to correction in trans of Hurler fibroblasts
28. Effect of osmotic blood-brain barrier disruption on gentamicin penetration into the cerebrospinal fluid and brains of normal rabbits
29. Aminoglycoside-induced hearing loss in humans
30. Aminoglycosides: Nephrotoxicity
31. Comparative assessment of poly-L-aspartic and poly-L-glutamic acids as protectants against gentamicin-induced renal lysosomal phospholipidosis, phospholipiduria and cell proliferation in rats
32. Protection against gentamicin nephrotoxicity by daptomycin in nephrectomized rats
33. N-methyl-D-aspartate antagonists limit aminoglycoside antibiotic-induced hearing loss
34. Iron chelators protect from aminoglycoside-induced cochleo- and vestibulo-toxicity
35. New derivatives of kanamicin B obtained by modifications and substitutions in position 6′. 1. Synthesis and microbiological evaluation
36. A 2′ guanidyl derivative of gentamicin (S86451) with reduced nephrotoxicity: Studies at low and medium dose levels in the rat
37. A fluorometric assay using 4-methylumbelliferyl α-L-iduronide for the estimation of α-L-iduronidase activity and the detection of Hurler and Scheie syndromes