Functional Evidence of <i>CCDC186</i> as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.

Arrabal, Luisa; Muñoz-Pujol, Gerard; Medina Martínez, Inmaculada; Gort, Laura; García-Villoria, Judit; Roldán, Susana; Tort, Frederic; Ribes, Antonia

Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System Alterations.

Arrabal, Luisa; Muñoz-Pujol, Gerard; Medina Martínez, Inmaculada; Gort, Laura; García-Villoria, Judit; Roldán, Susana; Tort, Frederic; Ribes, Antonia.

Afiliação

Arrabal L; Pediatric Neurology Department, Hospital Virgen de las Nieves, 18014 Granada, Spain.
Muñoz-Pujol G; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic Barcelona, IDIBAPS, CIBERER, 08028 Barcelona, Spain.
Medina Martínez I; Pediatric Neurology Department, Hospital Virgen de las Nieves, 18014 Granada, Spain.
Gort L; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic Barcelona, IDIBAPS, CIBERER, 08028 Barcelona, Spain.
García-Villoria J; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic Barcelona, IDIBAPS, CIBERER, 08028 Barcelona, Spain.
Roldán S; Pediatric Neurology Department, Hospital Virgen de las Nieves, 18014 Granada, Spain.
Tort F; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic Barcelona, IDIBAPS, CIBERER, 08028 Barcelona, Spain.
Ribes A; Section of Inborn Errors of Metabolism-IBC, Department of Biochemistry and Molecular Genetics, Hospital Clínic Barcelona, IDIBAPS, CIBERER, 08028 Barcelona, Spain.

Int J Mol Sci ; 24(15)2023 Aug 01.

Article em En | MEDLINE | ID: mdl-37569695

Assuntos

Doenças do Sistema Endócrino; Transtornos do Neurodesenvolvimento; Recém-Nascido; Humanos; Sistema Nervoso Central; Transtornos do Neurodesenvolvimento/genética; Mutação; Rede trans-Golgi

Palavras-chave

CCDC186 mutations; DCVs; dense-core vesicles; growth hormone deficiency; hypomyelination; low levels of cortisol; low levels of insulin; non-ketotic hypoglycemia; seizures

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Doenças do Sistema Endócrino / Transtornos do Neurodesenvolvimento Idioma: En Ano de publicação: 2023 Tipo de documento: Article

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