Biochemical analyses and molecular modeling explain the functional loss of 17ß-hydroxysteroid dehydrogenase 3 mutant G133R in three Tunisian patients with 46, XY Disorders of Sex Development.

Engeli, Roger T; Rhouma, Bochra Ben; Sager, Christoph P; Tsachaki, Maria; Birk, Julia; Fakhfakh, Faiza; Keskes, Leila; Belguith, Neila; Odermatt, Alex

Engeli, Roger T; Rhouma, Bochra Ben; Sager, Christoph P; Tsachaki, Maria; Birk, Julia; Fakhfakh, Faiza; Keskes, Leila; Belguith, Neila; Odermatt, Alex.

Afiliação

Engeli RT; Division of Molecular and Systems Toxicology, Department of Pharmaceutical Sciences, Pharmacenter, University of Basel, Basel, Switzerland.
Rhouma BB; Human Molecular Genetics Laboratory, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
Sager CP; Molecular Modeling, Department of Pharmaceutical Sciences, Pharmacenter, University of Basel, Basel, Switzerland.
Tsachaki M; Division of Molecular and Systems Toxicology, Department of Pharmaceutical Sciences, Pharmacenter, University of Basel, Basel, Switzerland.
Birk J; Division of Molecular and Systems Toxicology, Department of Pharmaceutical Sciences, Pharmacenter, University of Basel, Basel, Switzerland.
Fakhfakh F; Human Molecular Genetics Laboratory, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
Keskes L; Human Molecular Genetics Laboratory, Faculty of Medicine, University of Sfax, Sfax, Tunisia.
Belguith N; Human Molecular Genetics Laboratory, Faculty of Medicine, University of Sfax, Sfax, Tunisia; Department of Medical Genetics, HediChaker Hospital, Sfax, Tunisia. Electronic address: Neila.Belguith@fmsf.rnu.tn.
Odermatt A; Division of Molecular and Systems Toxicology, Department of Pharmaceutical Sciences, Pharmacenter, University of Basel, Basel, Switzerland. Electronic address: alex.odermatt@unibas.ch.

J Steroid Biochem Mol Biol ; 155(Pt A): 147-54, 2016 Jan.

Article em En | MEDLINE | ID: mdl-26545797

Assuntos

17-Hidroxiesteroide Desidrogenases/genética; 17-Hidroxiesteroide Desidrogenases/metabolismo; Transtorno 46,XY do Desenvolvimento Sexual/genética; Mutação; 17-Hidroxiesteroide Desidrogenases/química; Adolescente; Sequência de Aminoácidos; Substituição de Aminoácidos; Criança; Sequência Conservada; Retículo Endoplasmático/metabolismo; Feminino; Células HEK293; Humanos; Masculino; Modelos Moleculares; Dados de Sequência Molecular; Mutagênese Sítio-Dirigida; NADP/metabolismo

Palavras-chave

17ß-hydroxysteroid dehydrogenase; 46, XY DSD; HSD17B3; Male sexual development; Mutation; Structure function relationship; Testosterone

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno 46,XY do Desenvolvimento Sexual / 17-Hidroxiesteroide Desidrogenases / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: J Steroid Biochem Mol Biol Assunto da revista: BIOLOGIA MOLECULAR / BIOQUIMICA Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Suíça

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