Mutations in the adenosine deaminase ADAR1 that prevent endogenous Z-RNA binding induce Aicardi-Goutières-syndrome-like encephalopathy.

Nakahama, Taisuke; Kato, Yuki; Shibuya, Toshiharu; Inoue, Maal; Kim, Jung In; Vongpipatana, Tuangtong; Todo, Hiroyuki; Xing, Yanfang; Kawahara, Yukio

Nakahama, Taisuke; Kato, Yuki; Shibuya, Toshiharu; Inoue, Maal; Kim, Jung In; Vongpipatana, Tuangtong; Todo, Hiroyuki; Xing, Yanfang; Kawahara, Yukio.

Afiliação

Nakahama T; Department of RNA Biology and Neuroscience, Osaka University, Suita, Osaka 565-0871, Japan.
Kato Y; Department of RNA Biology and Neuroscience, Osaka University, Suita, Osaka 565-0871, Japan; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives (OTRI), Osaka University, Suita, Osaka 565-0871, Japan.
Shibuya T; Department of RNA Biology and Neuroscience, Osaka University, Suita, Osaka 565-0871, Japan.
Inoue M; Department of RNA Biology and Neuroscience, Osaka University, Suita, Osaka 565-0871, Japan.
Kim JI; Department of RNA Biology and Neuroscience, Osaka University, Suita, Osaka 565-0871, Japan.
Vongpipatana T; Department of RNA Biology and Neuroscience, Osaka University, Suita, Osaka 565-0871, Japan.
Todo H; Department of RNA Biology and Neuroscience, Osaka University, Suita, Osaka 565-0871, Japan.
Xing Y; Department of RNA Biology and Neuroscience, Osaka University, Suita, Osaka 565-0871, Japan.
Kawahara Y; Department of RNA Biology and Neuroscience, Osaka University, Suita, Osaka 565-0871, Japan; Integrated Frontier Research for Medical Science Division, Institute for Open and Transdisciplinary Research Initiatives (OTRI), Osaka University, Suita, Osaka 565-0871, Japan; The Genome Editing Research and

Immunity ; 54(9): 1976-1988.e7, 2021 09 14.

Article em En | MEDLINE | ID: mdl-34525338

Assuntos

Adenosina Desaminase/genética; Doenças Autoimunes do Sistema Nervoso/genética; Malformações do Sistema Nervoso/genética; Edição de RNA/genética; RNA de Cadeia Dupla/genética; Adenosina Desaminase/metabolismo; Animais; Doenças Autoimunes do Sistema Nervoso/fisiopatologia; Modelos Animais de Doenças; Helicase IFIH1 Induzida por Interferon/metabolismo; Camundongos; Mutação; Malformações do Sistema Nervoso/fisiopatologia; RNA de Cadeia Dupla/metabolismo

Palavras-chave

ADAR1; AGS; ISG; MDA5; RNA editing; Z-RNA; encephalopathy; hematopoiesis; inosine

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: RNA de Cadeia Dupla / Adenosina Desaminase / Edição de RNA / Doenças Autoimunes do Sistema Nervoso / Malformações do Sistema Nervoso Limite: Animals Idioma: En Ano de publicação: 2021 Tipo de documento: Article

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