Literature DB >> 2025241

Biosynthesis of human alpha-N-acetylgalactosaminidase: defective phosphorylation and maturation in infantile alpha-NAGA deficiency.

P Hu1, A J Reuser, H C Janse, W J Kleijer, D Schindler, H Sakuraba, A Tsuji, Y Suzuki, O P van Diggelen.   

Abstract

The biosynthesis of human alpha-N-acetylgalactosaminidase (alpha-NAGA) was studied in normal fibroblasts and in cells from patients with infantile alpha-NAGA deficiency. Normal alpha-NAGA is synthesized as a 52 kDa precursor which matures to a 49 kDa species through phosphorylation and carbohydrate triming. Fibroblasts from the patients synthesize normal amounts of a 52 kDa precursor, however phosphorylation does not occur and this precursor is subsequently degraded intracellularly.

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Year:  1991        PMID： 2025241     DOI： 10.1016/0006-291x(91)91678-6

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


  6 in total

1.  Processing of normal lysosomal and mutant N-acetylgalactosamine 4-sulphatase: BiP (immunoglobulin heavy-chain binding protein) may interact with critical protein contact sites.

Authors:  T M Bradford; M J Gething; R Davey; J J Hopwood; D A Brooks
Journal:  Biochem J       Date:  1999-07-01       Impact factor: 3.857

Review 2.  The early and late processing of lysosomal enzymes: proteolysis and compartmentation.

Authors:  A Hasilik
Journal:  Experientia       Date:  1992-02-15

3.  A Novel Homozygous Missense Variant in the NAGA Gene with Extreme Intrafamilial Phenotypic Heterogeneity.

Authors:  Fedah E Mohamed; Mohammad Al Sorkhy; Mohammad A Ghattas; Nuha Al-Zaabi; Aisha Al-Shamsi; Taleb M Almansoori; Lihadh Al-Gazali; Osama Y Al-Dirbashi; Fatma Al-Jasmi; Bassam R Ali
Journal:  J Mol Neurosci       Date:  2019-08-29       Impact factor: 3.444

4.  The molecular lesion in the alpha-N-acetylgalactosaminidase gene that causes angiokeratoma corporis diffusum with glycopeptiduria.

Authors:  A M Wang; T Kanzaki; R J Desnick
Journal:  J Clin Invest       Date:  1994-08       Impact factor: 14.808

5.  Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.

Authors:  J L Keulemans; A J Reuser; M A Kroos; R Willemsen; M M Hermans; A M van den Ouweland; J G de Jong; R A Wevers; W O Renier; D Schindler; M J Coll; A Chabas; H Sakuraba; Y Suzuki; O P van Diggelen
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

6.  Use of a modified alpha-N-acetylgalactosaminidase in the development of enzyme replacement therapy for Fabry disease.

Authors:  Youichi Tajima; Ikuo Kawashima; Takahiro Tsukimura; Kanako Sugawara; Mayuko Kuroda; Toshihiro Suzuki; Tadayasu Togawa; Yasunori Chiba; Yoshifumi Jigami; Kazuki Ohno; Tomoko Fukushige; Takuro Kanekura; Kohji Itoh; Toya Ohashi; Hitoshi Sakuraba
Journal:  Am J Hum Genet       Date:  2009-10-22       Impact factor: 11.025
  6 in total

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