Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder

Developmentally regulated Guanosine-5'-triphosphate-binding protein 1 (DRG1) is a highly conserved member of a class of GTPases implicated in translation. Although the expression of mammalian DRG1 is elevated in the central nervous system during development, and its function has been implicated...

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Veröffentlicht in:	Genetics in medicine 2023-09, Vol.25 (9), p.100893-100893, Article 100893
Hauptverfasser:	Westrip, Christian A.E., Paul, Franziska, Al-Murshedi, Fathiya, Qaitoon, Hashim, Cham, Breana, Fletcher, Sally C., Hendrix, Eline, Boora, Uncaar, Ng, Alvin Yu Jin, Bonnard, Carine, Najafi, Maryam, Alawbathani, Salem, Lambert, Imelda, Fox, Gabriel, Venkatesh, Byrappa, Bertoli-Avella, Aida, Tan, Ee Shien, Al-Maawali, Almundher, Reversade, Bruno, Coleman, Mathew L.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Carrier Proteins DRG1 GTP Phosphohydrolases - genetics GTP-Binding Proteins GTPase Humans Mammals - metabolism Mendelian genetics Mice Mouse modeling Neurodevelopment disorder Neurodevelopmental Disorders - genetics RNA, Messenger
Online-Zugang:	Volltext
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