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The introduction of this alanine mutation restored normal migration properties on polyacrylamide gels, suggesting that the arginine side chain in the mutant is responsible for the observed electrophoretic abnormalities.
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As a result, inhibition of the H3K27 methyltransferase activity of the Polycomb repressive complex 2 (PRC2) in tumor cells harboring BAP1 or MLL3 mutations restored normal gene expression patterns and impaired cell proliferation in vivo.
Compensatory mutations restored normal telomerase function.
Mutant transmitochondrial cybrids restored normal enzyme activities and steady-state protein levels, the mutation was mildly conserved along evolution, and the proband's mother and maternal aunt, both clinically unaffected, also harboured the homoplasmic mutation.
Using insulin-resistant PDK1K465E/K465E PH domain knock-in mice, we found that introducing the PTEN+/− mutation to slightly stimulate Akt restored normal insulin sensitivity.
The Yan-YFP transgene fully complemented null mutations in the endogenous yan gene and completely restored normal eye development, demonstrating that the YFP tag does not compromise Yan function and that all essential genomic regulatory sequences are included.
Recent evidence suggests that the initial fitness costs of some drug resistance mutations can be rapidly compensated by secondary mutations that restore normal function [31], [32], [33].
Additionally, SAHA treatment restored normal PGRN levels in human cell lines derived from pathogenic GRN mutation carriers [ 75].
Covering one eye restored normal vision.
The DCR restored normal tear function in the left eye.
Subsequent exposure to DTT restored normal pore formation.
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