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Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
Froese, D Sean; Michaeli, Amit; McCorvie, Thomas J; Krojer, Tobias; Sasi, Meitav; Melaev, Esther; Goldblum, Amiram; Zatsepin, Maria; Lossos, Alexander; Álvarez, Rafael; Escribá, Pablo V; Minassian, Berge A; von Delft, Frank; Kakhlon, Or; Yue, Wyatt W.
Afiliação
  • Froese DS; Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, OX3 7DQ, UK.
  • Michaeli A; Pepticom LTD, Jerusalem, Israel.
  • McCorvie TJ; Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, OX3 7DQ, UK.
  • Krojer T; Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, OX3 7DQ, UK.
  • Sasi M; Department of Neurology, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel.
  • Melaev E; Department of Neurology, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel.
  • Goldblum A; Pepticom LTD, Jerusalem, Israel, Institute for Drug Research, The Hebrew University of Jerusalem, Jerusalem, Israel.
  • Zatsepin M; Pepticom LTD, Jerusalem, Israel.
  • Lossos A; Department of Neurology, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel.
  • Álvarez R; Department of Biology, University of the Balearic Islands, Palma de Mallorca E-07122, Spain and.
  • Escribá PV; Department of Biology, University of the Balearic Islands, Palma de Mallorca E-07122, Spain and.
  • Minassian BA; Program in Genetics and Genomic Medicine, The Hospital for Sick Children, University of Toronto, Toronto, Canada.
  • von Delft F; Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, OX3 7DQ, UK.
  • Kakhlon O; Department of Neurology, Hadassah-Hebrew University Medical Center, Ein Kerem, Jerusalem, Israel, wyatt.yue@sgc.ox.ac.uk ork@hadassah.org.il.
  • Yue WW; Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, OX3 7DQ, UK, wyatt.yue@sgc.ox.ac.uk ork@hadassah.org.il.
Hum Mol Genet ; 24(20): 5667-76, 2015 Oct 15.
Article em En | MEDLINE | ID: mdl-26199317
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeos / Doença de Depósito de Glicogênio / Sistema da Enzima Desramificadora do Glicogênio / Doença de Depósito de Glicogênio Tipo IV / Mutação de Sentido Incorreto / Doenças do Sistema Nervoso Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Peptídeos / Doença de Depósito de Glicogênio / Sistema da Enzima Desramificadora do Glicogênio / Doença de Depósito de Glicogênio Tipo IV / Mutação de Sentido Incorreto / Doenças do Sistema Nervoso Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article