Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of <i>ALDH5A1</i>.

Brennenstuhl, Heiko; Didiasova, Miroslava; Assmann, Birgit; Bertoldi, Mariarita; Molla, Gianluca; Jung-Klawitter, Sabine; Kuseyri Hübschmann, Oya; Schröter, Julian; Opladen, Thomas; Tikkanen, Ritva

Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of ALDH5A1.

Brennenstuhl, Heiko; Didiasova, Miroslava; Assmann, Birgit; Bertoldi, Mariarita; Molla, Gianluca; Jung-Klawitter, Sabine; Kuseyri Hübschmann, Oya; Schröter, Julian; Opladen, Thomas; Tikkanen, Ritva.

Afiliação

Brennenstuhl H; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.
Didiasova M; Institute of Biochemistry, Medical Faculty, University of Giessen, 35392 Giessen, Germany.
Assmann B; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.
Bertoldi M; Department of Neuroscience, Biomedicine and Movement, Section of Biological Chemistry, University of Verona, Strada Le Grazie, 8, 37134 Verona, Italy.
Molla G; Department of Biotechnology and Life Sciences, University of Insubria, via J.H. Dunant 3, 21100 Varese, Italy.
Jung-Klawitter S; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.
Kuseyri Hübschmann O; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.
Schröter J; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.
Opladen T; Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.
Tikkanen R; Institute of Biochemistry, Medical Faculty, University of Giessen, 35392 Giessen, Germany.

Int J Mol Sci ; 21(22)2020 Nov 13.

Article em En | MEDLINE | ID: mdl-33203024

Assuntos

Erros Inatos do Metabolismo dos Aminoácidos; Simulação por Computador; Deficiências do Desenvolvimento; Mutação de Sentido Incorreto; Succinato-Semialdeído Desidrogenase/deficiência; Erros Inatos do Metabolismo dos Aminoácidos/enzimologia; Erros Inatos do Metabolismo dos Aminoácidos/genética; Substituição de Aminoácidos; Deficiências do Desenvolvimento/enzimologia; Deficiências do Desenvolvimento/genética; Células HEK293; Humanos; Domínios Proteicos; Succinato-Semialdeído Desidrogenase/genética; Succinato-Semialdeído Desidrogenase/metabolismo

Palavras-chave

inherited metabolic disease; mutational spectrum; succinic semialdehyde dehydrogenase deficiency; Î³-amino butyric acid; Î³hydroxybutyrate

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Simulação por Computador / Deficiências do Desenvolvimento / Mutação de Sentido Incorreto / Succinato-Semialdeído Desidrogenase / Erros Inatos do Metabolismo dos Aminoácidos Limite: Humans Idioma: En Revista: Int J Mol Sci Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Alemanha

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