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Our work provides evidence that several ARJP disease state mutations cause drastic alterations in the Ubl domain structure and/or stability, while others disrupt binding to the S5a proteasomal subunit.
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Two of the newly found mutations caused a drastic reduction of GMPPB expression: no expression was detectable for p.V254M (found in Case 3) and p.R287W (found in Case 1) mutant constructs (Fig. 6A).
Among possible point mutations in ORFs, nonsense mutations cause the most drastic changes of gene products.
This has been further confirmed by the stopped-flow and EPR measurements shown below and allows the conclusion that the mutation did not cause drastic alterations of the active site geometry (which was also suggested by the ECD data).
Mutations in these genes cause drastic decrease in Yersinia growth, preventing it from colonizing its point of entrance in infected flies (bucal orifice) [ 71, 72].
While the E108K and E111K mutants enabled the interaction with the complex, although diminished, the D124K mutation caused a drastic decrease in the interaction with ISCU and NFS1 (Fig 3A).
In this regard, an emblematic case is offered by recent experiments involving mutations and kinetic studies on the enzyme tyramine β-monooxygenase, where the aromatic ring of the amino acid Tyr216 may mediate a long-range interdomain ET process crucial to the enzymatic mechanism, and the Tyr-to-Ala mutation causes a drastic decrease in the observed ET rate.
(D ) Kymographs of hyphae expressing Upa1-Gfp versions showing bidirectional movement of signals as diagonal lines and indicating that the mutations in the PAM2L motives did not cause drastic differences in endosomal movement of Upa1-Gfp versions.
At least 80 mutations cause transthyretin diseases, Dr. Kelly said.
We suggest that the identified PDE3A mutations cause the syndrome.
Some mutations cause symptoms that present only during pregnancy.
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