A Biallelic Variant of the RNA Exosome Gene <i>EXOSC4</i> Causes Translational Defects Associated with a Neurodevelopmental Disorder.

Fasken, Milo B; Leung, Sara W; Cureton, Lauryn A; Al-Awadi, Maha; Al-Kindy, Adila; Khoshnevis, Sohail; Ghalei, Homa; Al-Maawali, Almundher; Corbett, Anita H

A Biallelic Variant of the RNA Exosome Gene EXOSC4 Causes Translational Defects Associated with a Neurodevelopmental Disorder.

Fasken, Milo B; Leung, Sara W; Cureton, Lauryn A; Al-Awadi, Maha; Al-Kindy, Adila; Khoshnevis, Sohail; Ghalei, Homa; Al-Maawali, Almundher; Corbett, Anita H.

Afiliación

Fasken MB; Department of Biology, Emory College of Arts and Sciences, Atlanta, GA USA 30322.
Leung SW; Department of Biology, Emory College of Arts and Sciences, Atlanta, GA USA 30322.
Cureton LA; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA USA 30322.
Al-Awadi M; Graduate Program in Genetics and Molecular Biology, Emory University, Atlanta, GA 30322.
Al-Kindy A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Khoshnevis S; Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.
Ghalei H; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA USA 30322.
Al-Maawali A; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA USA 30322.
Corbett AH; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.

medRxiv ; 2023 Oct 28.

Article en En | MEDLINE | ID: mdl-37961665

Palabras clave

EXOSC4; RNA Exosome; RNA processing/decay; neurodevelopmental disorder; translation

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: MedRxiv Año: 2023 Tipo del documento: Article