New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression

Molecular Genetics and Metabolism

Volumn 96, Issue 3, 2009, Pages 148-

  Mayer, Fabiana Quoos ^a   Pereira, Fernanda dos Santos ^a   Fensom, Anthony H ^b   Slade, Christina ^b   Matte, Ursula ^a   Giugliani, Roberto ^a  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b GUY S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BETA1 GALACTOSIDASE; GANGLIOSIDE GM1; GLYCOSIDASE; KERATAN SULFATE; UNCLASSIFIED DRUG;

CERVICAL MYELOPATHY; ENZYME ACTIVITY; GENE MUTATION; GM1 GANGLIOSIDOSIS; HUMAN; LETTER; MENTAL DETERIORATION; MORQUIO SYNDROME; PHENOTYPE; PRIORITY JOURNAL; SKELETON MALFORMATION;

BETA-GALACTOSIDASE; FEMALE; HUMANS; MALE; MUCOPOLYSACCHARIDOSIS IV; MUTATION, MISSENSE; PHENOTYPE; REGRESSION (PSYCHOLOGY); SIBLINGS;

EID: 60649093678     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.11.159     Document Type: Letter

References (6)

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2. Callahan J.W. Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. Biochim. Biophys. Acta 1455 2-3 (1999) 85-103
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4. Giugliani R., Jackson M., Skinner S.J.I., Vimal C.M., Fensom A.H., Fahmy N., Sjövall A., and Benson P.F. Progressive mental regression in siblings with Morquio disease type B (mucopolysaccharidosis IV B). Clin. Genet. 32 5 (1987) 313-325
5. D. Hofer, K. Fantur, K. Paul, A. D'Azzo, E. Paschke, Expression analysis of novel missense mutations of the GLB1 (Acid β-galactosidase) gene in COS-1 cells, in: 10th International Symposium on Mucopolysaccharide and Related Diseases, Advance Group Conference Management, Vancouver, Canada, 2008.
6. Zhang S., Bagshaw R., Hilson W., Oho Y., Hinek A., Clarke J.T., and Callahan J.W. Characterization of beta-galactosidase mutations Asp332 → Asn and Arg148 → Ser and a polymorphism, Ser532 → Gly, in a case of GM1 gangliosidosis. Biochem. J. 348 1 (2000) 621-632