Severe pathogenic variants of intestinal sucrase-isomaltase interact avidly with the wild type enzyme and negatively impact its function and trafficking.

Husein, Diab M; Rizk, Sandra; Hoter, Abdullah; Wanes, Dalanda; D'Amato, Mauro; Naim, Hassan Y

Husein, Diab M; Rizk, Sandra; Hoter, Abdullah; Wanes, Dalanda; D'Amato, Mauro; Naim, Hassan Y.

Afiliação

Husein DM; Department of Biochemistry, University of Veterinary Medicine Hannover, 30559 Hannover, Germany.
Rizk S; Department of Natural Sciences, Lebanese American University, Beirut, Lebanon.
Hoter A; Department of Biochemistry, University of Veterinary Medicine Hannover, 30559 Hannover, Germany.
Wanes D; Department of Biochemistry, University of Veterinary Medicine Hannover, 30559 Hannover, Germany.
D'Amato M; Gastrointestinal Genetics Lab, CIC bioGUNE - BRTA, Derio, Spain; Ikerbasque, Basque Foundation for Science, Bilbao, Spain.
Naim HY; Department of Biochemistry, University of Veterinary Medicine Hannover, 30559 Hannover, Germany. Electronic address: Hassan.Naim@tiho-hannover.de.

Biochim Biophys Acta Mol Basis Dis ; 1868(11): 166523, 2022 11 01.

Article em En | MEDLINE | ID: mdl-35985447

Assuntos

Síndrome do Intestino Irritável; Erros Inatos do Metabolismo dos Carboidratos; Humanos; Síndrome do Intestino Irritável/genética; Amido; Complexo Sacarase-Isomaltase/deficiência; Complexo Sacarase-Isomaltase/genética; Sacarose; alfa-Glucosidases/genética

Palavras-chave

Congenital sucrase-isomaltase deficiency (CSID); Enzyme function; Heterodimeric interactions; Irritable bowel syndrome (IBS); Protein trafficking; SI gene variants (SIGVs); Sucrase-isomaltase (SI)

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome do Intestino Irritável Limite: Humans Idioma: En Revista: Biochim Biophys Acta Mol Basis Dis Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Alemanha

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