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Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis.
Klaver, Elsenoor J; Dukes-Rimsky, Lynn; Kumar, Brijesh; Xia, Zhi-Jie; Dang, Tammie; Lehrman, Mark A; Angel, Peggi; Drake, Richard R; Freeze, Hudson H; Steet, Richard; Flanagan-Steet, Heather.
Afiliação
  • Klaver EJ; Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia.
  • Dukes-Rimsky L; JC Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Kumar B; JC Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Xia ZJ; Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • Dang T; Department of Pharmacology, UT Southwestern Medical Center, Dallas, Texas, USA.
  • Lehrman MA; Department of Pharmacology, UT Southwestern Medical Center, Dallas, Texas, USA.
  • Angel P; Department of Cell and Molecular Pharmacology and Experimental Therapeutics, Medical University of South Carolina, Charleston, South Carolina, USA.
  • Drake RR; Department of Cell and Molecular Pharmacology and Experimental Therapeutics, Medical University of South Carolina, Charleston, South Carolina, USA.
  • Freeze HH; Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, California, USA.
  • Steet R; Complex Carbohydrate Research Center, University of Georgia, Athens, Georgia.
  • Flanagan-Steet H; JC Self Research Institute, Greenwood Genetic Center, Greenwood, South Carolina, USA.
JCI Insight ; 6(24)2021 12 22.
Article em En | MEDLINE | ID: mdl-34784297
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Peptídeo Hidrolases / Caderinas / Fosfotransferases (Fosfomutases) Tipo de estudo: Etiology_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Peptídeo Hidrolases / Caderinas / Fosfotransferases (Fosfomutases) Tipo de estudo: Etiology_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article