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Exact(9)
When the RecBCD pathway is inactivated by mutations and additional mutations inactivate the SbcCD and ExoI nucleases, the RecF pathway can also repair DNA double-strand breaks.
IDH1 R132 and IDH2 R172 mutations inactivate the normal NADP+-IDH activity of IDH1 and IDH2 to convert isocitrate to α-ketoglutarate [2], [12].
These point mutations inactivate the DNA-stimulated ATP hydrolysis and hence helicase activity of the respective subunits, leading to the formation of defective RecBK28QCD and RecBCDK229Q enzymes in cells.
This paper reports that a fraction x = 0.34 of amino acid mutations inactivate the protein.
We have to assume that all these mutations inactivate the important SPM motif in which T18 resides.
However, it has been shown that the mutations inactivate the standard enzymatic activity of IDH1 and IDH2 [ 12, 36].
Similar(51)
A-T is caused by germline mutations inactivating the ataxia telangiectasia mutated (ATM) protein kinase, which has an apical role in the DNA damage response (DDR) to double-strand breaks (DSBs).
Studies on neuroblastoma seem to rule out that mutations inactivating the ENO1 gene are involved in controlling MBP-1 expression [28].
We have recently isolated the first mutations inactivating the Stam gene in Drosophila in a genetic screen aiming at identifying novel molecules involved in the formation of the larval tracheal system [23].
Could they have accumulated mutations inactivating the feedback inhibition?
Because the T18A/V/D/E mutations inactivated the SPM function, we turned to an in vitro phosphorylation approach.
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