Dominant-negative effect of lactase missense variants: hetero-complex assembly with the wild-type enzyme impairs intracellular trafficking and digestive function.

Wanes, Dalanda; Stellbrinck, Tammy; Marten, Lara M; Santer, René; Naim, Hassan Y

Wanes, Dalanda; Stellbrinck, Tammy; Marten, Lara M; Santer, René; Naim, Hassan Y.

Afiliación

Wanes D; Department of Biochemistry, University of Veterinary Medicine Hannover, Hannover, Germany.
Stellbrinck T; Department of Biochemistry, University of Veterinary Medicine Hannover, Hannover, Germany.
Marten LM; Department of Pediatrics and Adolescent Medicine, University Medical Center Göttingen, Göttingen, Germany.
Santer R; Department of Pediatrics, University Medical Center Eppendorf, Hamburg, Germany.
Naim HY; Department of Biochemistry, University of Veterinary Medicine Hannover, Hannover, Germany Hassan.Naim@tiho-hannover.de.

Gut ; 73(10): e16, 2024 Sep 09.

Article en En | MEDLINE | ID: mdl-38124012

Asunto(s)

Lactasa; Mutación Missense; Humanos; Lactasa/genética; Lactasa/metabolismo; Transporte de Proteínas/genética; Intolerancia a la Lactosa/genética

Palabras clave

BASIC SCIENCES; BRUSH BORDER ENZYMES; GENETIC POLYMORPHISMS; LACTASE; MALABSORPTION

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación Missense / Lactasa Límite: Humans Idioma: En Revista: Gut Año: 2024 Tipo del documento: Article País de afiliación: Alemania Pais de publicación: Reino Unido

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