Sentence examples for inactive mutations from inspiring English sources

All proteolytically inactive mutations were limited to the globular Domain 1, providing evidence that this part of the passenger domain solely encodes the proteolytic activity.

Constitutively active or inactive mutations of Smo do not affect ciliary localization of Smo, nor do they affect interaction with BBS1 (Supplementary Material, Fig. S1).

Although p53 is often mutated in sebaceous carcinoma (Kiyosaki et al., 2010), many of these transcriptionally inactive mutations can inhibit AR activity (Nesslinger et al., 2003).

Catalytically inactive LOX was created by PCR site-directed mutagenesis to introduce the inactive mutations K314A and Y349F, as previously described and cloned into pLPCX vector as indicated above.

In addition to knock-out and inactive mutations, alteration of autophosphorylation capability by single amino acid change of PRKDC has been known to influence rejoining of DNA double stranded breaks in mammalian cells [ 46], suggesting that vitiligo development may be affected by aberrant PRKDC kinase activity due to an observed amino acid change.

An inactive mutation of nucleophile residue S159A was introduced to obtain the structure of rPPES159A/W187H complexed with (S -AcO-CPA.

The reduced EZH2 expression in t-AML parallels reduced expression observed in primary AML or pre-leukemia, which was previously found in 78% of patients carrying either EZH2 inactive mutation or -7/del7q involving the EZH2 locus [ 9].

Ultimately, this suggests the importance of a functional UBE3A for optimal proteasome function, and therefore implies one way in which lack of either the protein (ablated expression) or its function (catalytically inactive mutation) can contribute not only to AS pathogenesis, but possibly also to the pathogenesis of other neurological diseases which occur due to protein aggregation.

However, the high level of postnatal lethality in the Fto knockout and the severe multiorgan and developmental problems observed in a human carrying a catalytic inactive mutation in FTO suggests that inhibition of FTO as an anti-obesity therapy might have detrimental side effects (Boissel et al., 2009).

This change resembled the effect of catalytically inactive Twinkle mutations described by Wanrooij et al. (22).

When this domain is deleted (as with an N-terminally truncated protein), or if the ubiquitin protease domain is mutated to make it inactive (C14A mutation), the protein with a pathogenic repeat is substantially more toxic in both degree and tissue range of toxicity.