Your browser doesn't support javascript.
loading
Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.
O'Neill, Audrey G; Burrell, Anika L; Zech, Michael; Elpeleg, Orly; Harel, Tamar; Edvardson, Simon; Mor-Shaked, Hagar; Rippert, Alyssa L; Nomakuchi, Tomoki; Izumi, Kosuke; Kollman, Justin M.
Afiliação
  • O'Neill AG; Department of Biochemistry, University of Washington, Seattle, Washington, USA.
  • Burrell AL; Department of Biochemistry, University of Washington, Seattle, Washington, USA.
  • Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.
  • Elpeleg O; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Edvardson S; Alyn Hospital, Hebrew University School of Medicine, Jerusalem, Israel.
  • Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Rippert AL; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Nomakuchi T; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Kollman JM; Department of Biochemistry, University of Washington, Seattle, Washington, USA. Electronic address: jkoll@uw.edu.
J Biol Chem ; 299(8): 105012, 2023 08.
Article em En | MEDLINE | ID: mdl-37414152
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Purinas / IMP Desidrogenase Limite: Humans Idioma: En Revista: J Biol Chem Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Purinas / IMP Desidrogenase Limite: Humans Idioma: En Revista: J Biol Chem Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Estados Unidos