نتائج البحث

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

• Authors : Salpietro V.; Maroofian R.; Zaki M. S. ...

Subjects: GREND syndrome; GTPBP1; GTPBP2

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Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

Subjects: GREND syndrome; GTPBP1; GTPBP2

• Source: SYNAPS Study Group 2024 , ' Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome ' ,

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Functions of unconventional mammalian translational GTPases GTPBP1 and GTPBP2.

• Authors : Zinoviev A; Department of Cell Biology, State University of New York Downstate Medical Center, Brooklyn, New York 11203, USA.; Goyal A

Subjects: Peptide Chain Elongation, Translational*; Monomeric GTP-Binding Proteins/Monomeric GTP-Binding Proteins/Monomeric GTP-Binding Proteins/*metabolism; Exosome Multienzyme Ribonuclease Complex/Exosome Multienzyme Ribonuclease Complex/Exosome Multienzyme Ribonuclease Complex/metabolism

• Source: Genes & development [Genes Dev] 2018 Sep 01; Vol. 32 (17-18), pp. 1226-1241. Date of Electronic Publication: 2018 Aug 14.Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 8711660 Publication Model: Print-Electronic Cited Medium:

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