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Protein stability changes of the novel p.Arg180Cys mutant A glycosyltransferase resulted in a weak A phenotype.
Lee, H-S; Choi, K-M; Won, E J; Thi Phan, M-T; Lee, S Y; Shin, D-J; Chun, S; Park, G; Kim, S-K; Lee, K-B; Lee, H-J; Cho, D.
Afiliação
  • Lee HS; Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, South Korea.
  • Choi KM; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Won EJ; Department of Biological Engineering, Graduate School of Konkuk University, Seoul, South Korea.
  • Thi Phan MT; Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, South Korea.
  • Lee SY; Department of Laboratory Medicine, Chonnam National University Medical School, Gwangju, South Korea.
  • Shin DJ; Center for Creative Biomedical Scientists, Chonnam National University, Gwangju, South Korea.
  • Chun S; Department of Medical System Engineering, Gwangju Institute of Science and Technology (GIST), Gwangju, South Korea.
  • Park G; Department of Companion & Laboratory Animal Science, Kongju National University, Yesan, South Korea.
  • Kim SK; Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, South Korea.
  • Lee KB; Department of Laboratory Medicine, Chosun University College of Medicine, Gwangju, South Korea.
  • Lee HJ; Department of Companion & Laboratory Animal Science, Kongju National University, Yesan, South Korea.
  • Cho D; Advanced Analysis Center and Green City Technology Institute, Korea Institute of Science and Technology, Seoul, South Korea.
Vox Sang ; 111(4): 441-444, 2016 Nov.
Article em En | MEDLINE | ID: mdl-27538125
ABSTRACT
A novel A subgroup allele (c.538C>T p.Arg180Cys) showing weak A phenotype was found in a 30-year-old Korean woman with ABO discrepancy. Using 3D structural analysis, protein stability prediction and flow cytometric analysis of ABO antigen expression on HeLa cells transfected with plasmids containing the p.Arg180Cys mutant, we found that the Arg180 residue in the loop region of the A glycosyltransferases (GTA) structure plays significant role in stabilizing its closed conformation, which is required for substrate binding and catalysis study.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: N-Acetilgalactosaminiltransferases Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Vox Sang Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Coréia do Sul

Texto completo: 1 Base de dados: MEDLINE Assunto principal: N-Acetilgalactosaminiltransferases Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans Idioma: En Revista: Vox Sang Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Coréia do Sul