Functional analysis of an R311C variant of Ca<sup>2+</sup> -calmodulin-dependent protein kinase kinase-2 (CaMKK2) found as a de novo mutation in a patient with bipolar disorder.

Xy Ling, Naomi; Langendorf, Christopher G; Hoque, Ashfaqul; Galic, Sandra; Loh, Kim; Kemp, Bruce E; Gundlach, Andrew L; Oakhill, Jonathan S; Scott, John W

Functional analysis of an R311C variant of Ca²⁺ -calmodulin-dependent protein kinase kinase-2 (CaMKK2) found as a de novo mutation in a patient with bipolar disorder.

Xy Ling, Naomi; Langendorf, Christopher G; Hoque, Ashfaqul; Galic, Sandra; Loh, Kim; Kemp, Bruce E; Gundlach, Andrew L; Oakhill, Jonathan S; Scott, John W.

Afiliação

Xy Ling N; St Vincent's Institute and Department of Medicine, The University of Melbourne, Fitzroy, Australia.
Langendorf CG; St Vincent's Institute and Department of Medicine, The University of Melbourne, Fitzroy, Australia.
Hoque A; St Vincent's Institute and Department of Medicine, The University of Melbourne, Fitzroy, Australia.
Galic S; St Vincent's Institute and Department of Medicine, The University of Melbourne, Fitzroy, Australia.
Loh K; St Vincent's Institute and Department of Medicine, The University of Melbourne, Fitzroy, Australia.
Kemp BE; St Vincent's Institute and Department of Medicine, The University of Melbourne, Fitzroy, Australia.
Gundlach AL; Mary MacKillop Institute for Health Research, Australian Catholic University, Melbourne, Australia.
Oakhill JS; The Florey Institute of Neuroscience and Mental Health, Parkville, Australia.
Scott JW; St Vincent's Institute and Department of Medicine, The University of Melbourne, Fitzroy, Australia.

Bipolar Disord ; 22(8): 841-848, 2020 12.

Article em En | MEDLINE | ID: mdl-32216002

Assuntos

Transtorno Bipolar/genética; Quinase da Proteína Quinase Dependente de Cálcio-Calmodulina/genética; Cálcio/metabolismo; Calmodulina/metabolismo; Transtorno Bipolar/diagnóstico; Quinase da Proteína Quinase Dependente de Cálcio-Calmodulina/metabolismo; Calmodulina/genética; Variação Genética; Humanos; Mutação; Fosforilação; Transdução de Sinais/fisiologia

Palavras-chave

CaMKK2; bipolar disorder; calcium; kinase; monogenic; mutation

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Transtorno Bipolar / Calmodulina / Cálcio / Quinase da Proteína Quinase Dependente de Cálcio-Calmodulina Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Bipolar Disord Assunto da revista: PSIQUIATRIA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Austrália

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