Literature DB >> 3084469

GM1-gangliosidosis. Defective recognition site on beta-galactosidase precursor.

A T Hoogeveen, A J Reuser, M Kroos, H Galjaard.   

Abstract

Cultured fibroblasts from different variants of GM1-gangliosidosis synthesize normal amounts of 88-kDa beta-galactosidase precursor. Yet the amount of the mature 64-kDa form is reduced to 5-15% of normal values. In this communication it is shown that the mutation in the infantile and adult form of GM1-gangliosidosis interferes with the phosphorylation of precursor beta-galactosidase. As a result the precursor is secreted instead of being compartmentalized into the lysosomes and further processed. The impaired phosphorylation might be due to conformational changes of the precursor molecule.

Entities:  

Mesh：

Substances：

Year:  1986        PMID： 3084469

Source DB:  PubMed          Journal:  J Biol Chem        ISSN： 0021-9258            Impact factor:   5.157


  10 in total

1.  Expression, purification, crystallization and preliminary X-ray crystallographic analysis of human β-galactosidase.

Authors:  Kimihito Usui; Umeharu Ohto; Toshinari Ochi; Toshiyuki Shimizu; Yoshinori Satow
Journal:  Acta Crystallogr Sect F Struct Biol Cryst Commun       Date:  2011-12-24

2.  Ovine GM-1 gangliosidosis.

Authors:  D J Prieur; A J Ahern-Rindell; R D Murnane
Journal:  Am J Pathol       Date:  1991-12       Impact factor: 4.307

3.  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

4.  The lesions of an ovine lysosomal storage disease. Initial characterization.

Authors:  R D Murnane; D J Prieur; A J Ahern-Rindell; S M Parish; L L Collier
Journal:  Am J Pathol       Date:  1989-02       Impact factor: 4.307

5.  Crystal structure of human β-galactosidase: structural basis of Gm1 gangliosidosis and morquio B diseases.

Authors:  Umeharu Ohto; Kimihito Usui; Toshinari Ochi; Kenjiro Yuki; Yoshinori Satow; Toshiyuki Shimizu
Journal:  J Biol Chem       Date:  2011-11-28       Impact factor: 5.157

6.  Beta-galactosidase-deficient human fibroblasts: uptake and processing of the exogenous precursor enzyme expressed by stable transformant COS cells.

Authors:  A Oshima; K Itoh; Y Nagao; H Sakuraba; Y Suzuki
Journal:  Hum Genet       Date:  1990-10       Impact factor: 4.132

7.  A shortened beta-hexosaminidase alpha-chain in an Italian patient with infantile Tay-Sachs disease.

Authors:  G Zokaeem; J Bayleran; P Kaplan; P Hechtman; E F Neufeld
Journal:  Am J Hum Genet       Date:  1987-06       Impact factor: 11.025

8.  Characteristics of the beta-galactosidase-carboxypeptidase complex in GM1-gangliosidosis and beta-galactosialidosis fibroblasts.

Authors:  R M D'Agrosa; M Hubbes; S Zhang; R Shankaran; J W Callahan
Journal:  Biochem J       Date:  1992-08-01       Impact factor: 3.857

9.  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

10.  Early proteolytic cleavage with loss of a C-terminal fragment underlies altered processing of the beta-galactosidase precursor in galactosialidosis.

Authors:  Y Okamura-Oho; S Zhang; W Hilson; A Hinek; J W Callahan
Journal:  Biochem J       Date:  1996-02-01       Impact factor: 3.857
  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.