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The ubiquitin ligase UBE3B, disrupted in intellectual disability and absent speech, regulates metabolic pathways by targeting BCKDK.
Cheon, Solmi; Kaur, Kiran; Nijem, Nadine; Tuncay, Islam Oguz; Kumar, Pooja; Dean, Milan; Juusola, Jane; Guillen-Sacoto, Maria J; Bedoukian, Emma; Ierardi-Curto, Lynne; Kaplan, Paige; Schaefer, G Bradley; Mishra, Prashant; Chahrour, Maria H.
Afiliação
  • Cheon S; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390.
  • Kaur K; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390.
  • Nijem N; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390.
  • Tuncay IO; Department of Neuroscience, University of Texas Southwestern Medical Center, Dallas, TX 75390.
  • Kumar P; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390.
  • Dean M; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390.
  • Juusola J; GeneDx Inc., Gaithersburg, MD 20877.
  • Guillen-Sacoto MJ; GeneDx Inc., Gaithersburg, MD 20877.
  • Bedoukian E; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA 19104.
  • Ierardi-Curto L; Division of Human Genetics and the Metabolic Disease Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104.
  • Kaplan P; Division of Human Genetics and the Metabolic Disease Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104.
  • Schaefer GB; Division of Genetics, University of Arkansas for Medical Sciences, Little Rock, AR 72205.
  • Mishra P; Children's Medical Center Research Institute, University of Texas Southwestern Medical Center, Dallas, TX 75390.
  • Chahrour MH; Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, TX 75390; maria.chahrour@utsouthwestern.edu.
Proc Natl Acad Sci U S A ; 116(9): 3662-3667, 2019 02 26.
Article em En | MEDLINE | ID: mdl-30808755
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Proteínas Quinases / Anormalidades do Olho / Deformidades Congênitas dos Membros / Ubiquitina-Proteína Ligases / Transtornos do Desenvolvimento da Linguagem / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Proteínas Quinases / Anormalidades do Olho / Deformidades Congênitas dos Membros / Ubiquitina-Proteína Ligases / Transtornos do Desenvolvimento da Linguagem / Deficiência Intelectual / Microcefalia Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Ano de publicação: 2019 Tipo de documento: Article