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

被引：10

作者：

Mayer, Fabiana Quoos ^{[1
]}

Pereira, Femanda dos Santos ^{[1
]}

Fensom, Anthony H. ^{[2
]}

Slade, Christina ^{[2
]}

Matte, Ursula ^{[1
]}

Giugliani, Roberto ^{[1
]}

机构：

[1] Hosp Clin Porto Alegre, Res Ctr, Gene Therapy Lab, BR-90035903 Porto Alegre, RS, Brazil

[2] Guys Hosp, Enzyme Lab, Genet Ctr, London SE1 9RT, England

来源：

MOLECULAR GENETICS AND METABOLISM | 2009年 / 96卷 / 03期

关键词：

BETA-GALACTOSIDASE; GANGLIOSIDOSIS;

D O I：

10.1016/j.ymgme.2008.11.159

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：148 / 148

页数：1

共 6 条

[1] Molecular basis of GM1 gangliosidosis and Morquio disease, type B.: Structure-function studies of lysosomal β-galactosidase and the non-lysosomal β-galactosidase-like protein [J].

Callahan, JW .

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1999, 1455 (2-3) :85-103

[2]

GIUGLIANI R, 1987, CLIN GENET, V32, P313

[3]

HOFER D, 2008, 10 INT S MUC REL DIS

[4] Mutation analyses in 17 patients with deficiency in acid β-galactosidase:: three novel point mutations and high correlation of mutation W273L with Morquio disease type B [J].

Paschke, E ;

Milos, I ;

Kreitner-Erlacher, H ;

Hoefler, G ;

Hoeltzenbein, M ;

Kleijer, W ;

Levade, T ;

Michelakakis, H ;

Radeva, B .

HUMAN GENETICS, 2001, 109 (02) :159-166

[5] Expression and characterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis and Morquio B patients [J].

Santamaria, Rauel ;

Chabas, Amparo ;

Callahan, John W. ;

Grinberg, Daniel ;

Vilageliu, Lluiesa .

JOURNAL OF LIPID RESEARCH, 2007, 48 (10) :2275-2282

[6] Characterization of β-galactosidase mutations Asp332 → Asn and Arg148 → Ser, and a polymorphism, Ser532 → Gly, in a case of GM1 gangliosidosis [J].

Zhang, SQ ;

Bagshaw, R ;

Hilson, W ;

Oho, Y ;

Hinek, A ;

Clarke, JTR ;

Hinek, A ;

Callahan, JW .

BIOCHEMICAL JOURNAL, 2000, 348 (03) :621-632

← 1 →