首页> The Journal of biological chemistry> A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation.

A biallelic variant of the RNA exosome gene, EXOSC4, associated with neurodevelopmental defects impairs RNA exosome function and translation.

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第一作者： Milo B,Fasken

第一单位： Department of Biology, Emory College of Arts and Sciences, Atlanta, Georgia USA. Electronic address: mfasken@emory.edu.

作者： Milo B,Fasken ^[1] ; Sara W,Leung ^[2] ; Lauryn A,Cureton ^[3] ; Maha,Al-Awadi ^[4] ; Adila,Al-Kindy ^[5] ; Ambro,van Hoof ^[6] ; Sohail,Khoshnevis ^[7] ; Homa,Ghalei ^[8] ; Almundher,Al-Maawali ^[9] ; Anita H,Corbett ^[10]

作者单位： Department of Biology, Emory College of Arts and Sciences, Atlanta, Georgia USA. Electronic address: mfasken@emory.edu. ^[1] Department of Biology, Emory College of Arts and Sciences, Atlanta, Georgia USA. ^[2] Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia USA; Graduate Program in Genetics and Molecular Biology, Emory University, Atlanta, Georgia, USA. ^[3] Sultan Qaboos Hospital, Ministry of Health, Salalah, Oman. ^[4] Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. ^[5] Department of Microbiology and Molecular Genetics, The University of Texas Health Science Center at Houston, Houston, Texas, USA. ^[6] Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia USA. ^[7] Department of Biochemistry, Emory University School of Medicine, Atlanta, Georgia USA. Electronic address: homa.ghalei@emory.edu. ^[8] Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman. Electronic address: almaawali@squ.edu.om. ^[9] Department of Biology, Emory College of Arts and Sciences, Atlanta, Georgia USA. Electronic address: acorbe2@emory.edu. ^[10]

关键词 EXOSC4 RNA exosome RNA processing/decay neurodevelopmental disorder translation