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Titolo:
Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications
Autore:
Yogalingam, G; Hopwood, JJ;
Indirizzi:
Womens & Childrens Hosp, Dept Chem Pathol, Lysosomal Dis Res Unit, Adelaide, SA 5006, Australia Womens & Childrens Hosp Adelaide SA Australia 5006 de, SA 5006, Australia
Titolo Testata:
HUMAN MUTATION
fascicolo: 4, volume: 18, anno: 2001,
pagine: 264 - 281
SICI:
1059-7794(2001)18:4<264:MGOMTI>2.0.ZU;2-J
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALPHA-N-ACETYLGLUCOSAMINIDASE; SYNDROME TYPE-B; SYNDROME TYPE-A; RECOMBINANT HUMAN SULFAMIDASE; SANFILIPPO-SYNDROME; MOUSE MODEL; HUMAN-LIVER; WILD-TYPE; MUTATIONS; IDENTIFICATION;
Keywords:
Sanfilippo syndrome; lysosomal storage disorder; mucopolysaccharidosis type IIIA; MPS-IIIA; mucopolysaccharidosis type IIIB; MPS-IIIB; heparan sulfate sulfamidase; SGSH; alpha-acetylglucosaminidase; NAGLU;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
52
Recensione:
Indirizzi per estratti:
Indirizzo: Hopwood, JJ Womens & Childrens Hosp, Dept Chem Pathol, Lysosomal Dis Res Unit, 72 KingWilliam Rd, Adelaide, SA 5006, Australia Womens & Childrens Hosp 72 King William Rd Adelaide SA Australia 5006
Citazione:
G. Yogalingam e J.J. Hopwood, "Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications", HUM MUTAT, 18(4), 2001, pp. 264-281

Abstract

Mucopolysaccharidosis (MPS) types IIIA, B, C, and D are a group of autosomal recessive lysosomal storage diseases caused by mutations in one of four genes which encode enzyme activities required for the lysosomal. degradation of heparan sulfate. The progressive lysosomal storage of heparan sulfate eventually results in the clinical onset of disease, which is predominantlycharacterized by severe central nervous system degeneration. MPS-IIIA and MPS-IIIB involve deficiencies of heparan sulfate sulfamidase (SGSH) and alpha -N-acetylglucosaminidase (NAGLU), respectively. Both the SGSH and NAGLU genes have been cloned and characterized, thereby permitting mutation analysis of MPS-IIIA and MPS-IIIB patients. A total of 62 mutations have now been defined for MPS-IIIA consisting of 46 missense/nonsense mutations, 15 small insertions/deletions, and one splice site mutation. A total of 86 mutations have been identified in the NAGLU gene of MPS-IIIB patients; 58 missense/nonsense mutations, 27 insertions/deletions, and one splice site mutation. Most of the identified mutations in the SGSH and NAGLU genes are associated with severe clinical phenotypes. Many of the missense, nonsense, and insertion/delction mutations have been expressed in mammalian cell lines to permit the characterization of their effects on SGSH and NAGLU activity and intracellular processing and trafficking. For MPS-IIIA and MPS, IIIB many ofthe reported mutations are unique making screening the general population difficult. However, molecular characterization of MPS-IIIA patients has revealed a high incidence of particular mutations of different geographical origins, which will be beneficial for the molecular diagnosis of MPS-IIIA. Hum Mutat 18:264-281, 2001. (C) 2001 Wiley-Liss, Inc.

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Documento generato il 02/04/20 alle ore 18:01:16