Exact(3)
Remarkably, with the most severe mutation, global folding is more rapid than for the wild-type ribozyme and proceeds in a concerted fashion without the accumulation of long-lived kinetic intermediates.
The least severe Ala934Val substitution mutation resides on the displaced, disordered loop region that includes the proline-rich region, Leu-954 lies on the MVt extended coil, and the most severe mutation, Arg975Trp, resides on the unique H1' α-helix of metavinculin (Figure 2A).
In the context of DTC, the effect exerted by both alleles of pdr-1 on the most severe mutation ced-10(n3246) robustly confirms the genetic role of the modulation of the DTC migration phenotype by pdr-1.
Similar(57)
This decompaction is widespread but is most pronounced at specific genomic regions and in cells with the most severe mutations.
These results suggest that even for the most severe mutations it is always worth trying sulphonylurea therapy, as it may improve the neurological symptoms even if it is unable to control the diabetes.
Might the similarity of the concentration-response curves for all of the most severe mutations (except E730?) suggest that some low affinity site unrelated to any of the sites examined is still present?
The severity of the disease is related to the residual activity of the mutant β-galactosidase enzyme with the most severe mutations resulting in little to no enzyme found at lysosomes (Suzuki et al., 1978).
However, the slope of the survival curves for Ile736Thr or Arg723Gly mutations was similar to that shown by the most severe mutations, 20 years earlier; meaning that the 5-year annual risk of patients with the less severe mutations of the converter domain is quite high after age 40 50 years.
Overexpression of the A229E mutation, which is the most severe clinical mutation, caused the largest increase in auto-fluorescence compared to the other clinical mutations.
After all, even the clinically and cellularly most severe COG7 mutation succeeds partially in this task (Fig. 3A and B).
A232 is located at the beginning the of the D1 domain and is the most severe clinical mutation (Watts et al., 2004).
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