Literature DB >> 6817758

Morquio disease, type B: activation of GM1-beta-galactosidase by GM1-activator protein.

E Paschke, H Kresse.   

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Year:  1982        PMID： 6817758     DOI： 10.1016/0006-291x(82)91759-4

Source DB:  PubMed          Journal:  Biochem Biophys Res Commun        ISSN： 0006-291X            Impact factor:   3.575


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  8 in total

1.  Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis.

Authors:  S Zhang; R Bagshaw; W Hilson; Y Oho; A Hinek; J T Clarke; J W Callahan
Journal:  Biochem J       Date:  2000-06-15       Impact factor: 3.857

2.  Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease.

Authors:  P Leinekugel; S Michel; E Conzelmann; K Sandhoff
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132

Review 3.  Variable clinical presentation in lysosomal storage disorders.

Authors:  M Beck
Journal:  J Inherit Metab Dis       Date:  2001       Impact factor: 4.982

4.  Ganglioside GM1 metabolism in living human fibroblasts with beta-galactosidase deficiency.

Authors:  G M Mancini; A T Hoogeveen; H Galjaard; J E Mansson; L Svennerholm
Journal:  Hum Genet       Date:  1986-05       Impact factor: 4.132

5.  Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.

Authors:  Katrin M Fantur; Tanja M Wrodnigg; Arnold E Stütz; Bettina M Pabst; Eduard Paschke
Journal:  J Inherit Metab Dis       Date:  2011-10-28       Impact factor: 4.982

6.  Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).

Authors:  A Oshima; K Yoshida; K Itoh; R Kase; H Sakuraba; Y Suzuki
Journal:  Hum Genet       Date:  1994-02       Impact factor: 4.132

7.  Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.

Authors:  Iman S Abumansour; Nataliya Yuskiv; Eduard Paschke; Sylvia Stockler-Ipsiroglu
Journal:  JIMD Rep       Date:  2019-11-28

Review 8.  Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.

Authors:  Nataliya Yuskiv; Katsumi Higaki; Sylvia Stockler-Ipsiroglu
Journal:  Int J Mol Sci       Date:  2020-11-30       Impact factor: 5.923
  8 in total

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