Molecular defects in the α-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients

Human Genetics

Volumn 107, Issue 6, 2000, Pages 568-576

  Tessitore, Alessandra ^a   Villani, Guglielmo R D ^a   Di Domenico, Carmela ^a   Filocamo, Mirella ^b   Gatti, Rosanna ^b   Di Natale, Paola ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA N ACETYLGLUCOSAMINIDASE;

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; GENE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; MUTAGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN SYNTHESIS; RNA SPLICING; SANFILIPPO SYNDROME; SCREENING;

ACETYLGLUCOSAMINIDASE; ALLELES; ANIMALS; CELLS, CULTURED; COS CELLS; DNA MUTATIONAL ANALYSIS; HUMANS; MUCOPOLYSACCHARIDOSIS III; MUTATION; RNA SPLICING;

EID: 0034535074     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390000429     Document Type: Article

References (28)

1. Sanfilippo B syndrome (MPS IIIB): Mild and severe forms within the same sibship
2. Two-exon skipping due to a point mutation in p67-phox-deficient chronic granulomatous disease
3. Mucopolysaccharidosis IIIB: Hybridization studies on fibroblasts from a mild case and fibroblasts from severe patients
4. Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB)
5. Analysis of the VNTR locus D1S80 by the PCR followed by high-resolution PAGE
6. Mucopolysaccharidosis type IIIB (Sanfilippo B): Identification of 18 novel α-N-acetylglucosaminidase gene mutations
7. 4-Methylumbelliferyl 2-acetamido-2-deoxy-alpha-D-glucopyranoside, a fluorogenic substrate for N-acetyl-alpha-D-glucosaminidase
8. Sanfilippo B disease: A re-examination of a particular sibship after 12 years
9. Sanfilippo B syndrome (MPS IIIB): Altered residual alpha-N-acetylglucosaminidase activity in an unusual sibship
10. Biosynthesis of alpha-N-acetylglucosaminidase in cultured human kidney carcinoma cells
11. Biosynthesis and maturation of α-N-acetylglucosaminidase in normal and Sanfilippo B-fibroblasts
12. Modification of a PCR-based site-directed mutagenesis method
13. Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease
14. 'Cold SSCP': A simple, rapid and non-radioactive method for optimized single-strand conformation polymorphism analyses
15. Interrelationships of the pathways of mRNA decay and translation in eukaryotic cells
16. Genetic heterogeneity and clinical variability in the Sanfilippo syndrome (type A, B and C)
17. Protein measurement with the Folin phenol reagent
18. Defects in RNA splicing and the consequence of shortened translational reading frames
19. The mucopolysaccharidoses
20. NAGLU mutations underlying Sanfilippo syndrome type B
21. Follow-up on seven adult patients with mild Sanfilippo B-disease
22. Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene
23. The role of exon sequences in splice site section
24. Cloning and expression of the gene involved in Sanfilippo B syndrome (mucopolysaccharidosis IIIB)
25. Sanfilippo type B syndrome (mucopolysaccharidosis IIIB): Allelic heterogeneity corresponds to the wide spectrum of clinical phenotypes
26. Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia
27. The molecular basis of Sanfilippo syndrome type B
28. Genotype-phenotype correspondence in Sanfilippo syndrome type B