Loss of nuclear UBE3A activity is the predominant cause of Angelman syndrome in individuals carrying UBE3A missense mutations.

Bossuyt, Stijn N V; Punt, A Mattijs; de Graaf, Ilona J; van den Burg, Janny; Williams, Mark G; Heussler, Helen; Elgersma, Ype; Distel, Ben

Bossuyt, Stijn N V; Punt, A Mattijs; de Graaf, Ilona J; van den Burg, Janny; Williams, Mark G; Heussler, Helen; Elgersma, Ype; Distel, Ben.

Afiliação

Bossuyt SNV; Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, The Netherlands.
Punt AM; Department of Clinical Genetics and Department of Neuroscience, Erasmus MC, 3015 GD Rotterdam, The Netherlands.
de Graaf IJ; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, 3015, 3015 CN, Rotterdam, The Netherlands.
van den Burg J; Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, The Netherlands.
Williams MG; Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, 1105 AZ, Amsterdam, The Netherlands.
Heussler H; Mater Research Institute, Faculty of Medicine, The University of Queensland, 4101, South Brisbane, Queensland, Australia.
Elgersma Y; Mater Research Institute, Faculty of Medicine, The University of Queensland, 4101, South Brisbane, Queensland, Australia.
Distel B; Child Development Program, Queensland Children's Hospital, 4101, South Brisbane, Queensland, Australia.

Hum Mol Genet ; 30(6): 430-442, 2021 04 30.

Article em En | MEDLINE | ID: mdl-33607653

Assuntos

Síndrome de Angelman/patologia; Núcleo Celular/metabolismo; Mutação de Sentido Incorreto; Neurônios/metabolismo; Ubiquitina-Proteína Ligases/genética; Ubiquitina-Proteína Ligases/metabolismo; Ubiquitinação; Síndrome de Angelman/genética; Animais; Escherichia coli/metabolismo; Células HEK293; Humanos; Camundongos; Saccharomyces cerevisiae/metabolismo; Ubiquitina-Proteína Ligases/química

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Núcleo Celular / Síndrome de Angelman / Mutação de Sentido Incorreto / Ubiquitina-Proteína Ligases / Ubiquitinação / Neurônios Limite: Animals / Humans Idioma: En Revista: Hum Mol Genet Assunto da revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda

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