Structural analysis of histone deacetylase 8 mutants associated with Cornelia de Lange Syndrome spectrum disorders.

Osko, Jeremy D; Porter, Nicholas J; Decroos, Christophe; Lee, Matthew S; Watson, Paris R; Raible, Sarah E; Krantz, Ian D; Deardorff, Matthew A; Christianson, David W

Osko, Jeremy D; Porter, Nicholas J; Decroos, Christophe; Lee, Matthew S; Watson, Paris R; Raible, Sarah E; Krantz, Ian D; Deardorff, Matthew A; Christianson, David W.

Afiliação

Osko JD; Roy and Diana Vagelos Laboratories, Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104-6323, United States.
Porter NJ; Roy and Diana Vagelos Laboratories, Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104-6323, United States.
Decroos C; Roy and Diana Vagelos Laboratories, Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104-6323, United States.
Lee MS; Roy and Diana Vagelos Laboratories, Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104-6323, United States.
Watson PR; Roy and Diana Vagelos Laboratories, Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104-6323, United States.
Raible SE; Roberts Individualized Medical Genetics Center, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States.
Krantz ID; Roberts Individualized Medical Genetics Center, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States.
Deardorff MA; Departments of Pathology and Pediatrics, Children's Hospital Los Angeles and the Keck School of Medicine of the University of Southern California, Los Angeles, CA 90033, United States.
Christianson DW; Roy and Diana Vagelos Laboratories, Department of Chemistry, University of Pennsylvania, 231 South 34(th) Street, Philadelphia, PA 19104-6323, United States. Electronic address: chris@sas.upenn.edu.

J Struct Biol ; 213(1): 107681, 2021 03.

Article em En | MEDLINE | ID: mdl-33316326

Assuntos

Síndrome de Cornélia de Lange/genética; Histona Desacetilases/genética; Mutação de Sentido Incorreto/genética; Proteínas Repressoras/genética; Proteínas de Ciclo Celular/genética; Proteínas Cromossômicas não Histona/genética; Humanos; Fenótipo; Coesinas

Palavras-chave

Birth defect; Cohesin; X-ray crystallography; Zinc enzyme

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Repressoras / Mutação de Sentido Incorreto / Síndrome de Cornélia de Lange / Histona Desacetilases Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: J Struct Biol Assunto da revista: BIOLOGIA MOLECULAR Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos

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