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Literature DB >> 2542896

Nucleotide sequence of the human alpha-galactosidase A gene.

R Kornreich¹, R J Desnick, D F Bishop.

Abstract

Entities: Gene Species

Mesh：

Substances：

Year: 1989 PMID： 2542896 PMCID： PMC317741 DOI： 10.1093/nar/17.8.3301

Source DB: PubMed Journal: Nucleic Acids Res ISSN： 0305-1048 Impact factor: 16.971

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3 in total

1. Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.

Authors: D F Bishop; D H Calhoun; H S Bernstein; P Hantzopoulos; M Quinn; R J Desnick
Journal: Proc Natl Acad Sci U S A Date: 1986-07 Impact factor: 11.205

2. DNA sequencing with chain-terminating inhibitors.

Authors: F Sanger; S Nicklen; A R Coulson
Journal: Proc Natl Acad Sci U S A Date: 1977-12 Impact factor: 11.205

3. Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.

Authors: D F Bishop; R Kornreich; R J Desnick
Journal: Proc Natl Acad Sci U S A Date: 1988-06 Impact factor: 11.205

3 in total

34 in total

1. alpha-Galactosidase Aga27A, an enzymatic component of the Clostridium josui cellulosome.

Authors: Sadanari Jindou; Shuichi Karita; Emi Fujino; Tsuchiyoshi Fujino; Hidenori Hayashi; Tetsuya Kimura; Kazuo Sakka; Kunio Ohmiya
Journal: J Bacteriol Date: 2002-01 Impact factor: 3.490

2. Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

Authors: S Ishii; H Sakuraba; Y Suzuki
Journal: Hum Genet Date: 1992-04 Impact factor: 4.132

3. Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele.

Authors: T F Fitzmaurice; R J Desnick; D F Bishop
Journal: J Inherit Metab Dis Date: 1997-09 Impact factor: 4.982

Review 4. The early and late processing of lysosomal enzymes: proteolysis and compartmentation.

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

5. Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.

Authors: J P Oliveira; S Ferreira; J Barceló; P Gaspar; F Carvalho; M C Sá Miranda; J-E Månsson
Journal: J Inherit Metab Dis Date: 2008-11-03 Impact factor: 4.982

Nucleotide sequence of the human alpha-galactosidase A gene.

1. Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.

2. DNA sequencing with chain-terminating inhibitors.

3. Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.

1. alpha-Galactosidase Aga27A, an enzymatic component of the Clostridium josui cellulosome.

2. Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease.

3. Human alpha-galactosidase A: high plasma activity expressed by the -30G-->A allele.

Review 4. The early and late processing of lysosomal enzymes: proteolysis and compartmentation.

5. Effect of single-nucleotide polymorphisms of the 5' untranslated region of the human α-galactosidase gene on enzyme activity, and their frequencies in Portuguese caucasians.

6. Editing of human alpha-galactosidase RNA resulting in a pyrimidine to purine conversion.

7. Novel trinucleotide deletion in Fabry's disease.

8. Human alpha-galactosidase A: glycosylation site 3 is essential for enzyme solubility.

9. Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.

10. Functional studies of new GLA gene mutations leading to conformational Fabry disease.