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This mutation causes an additional mild processing defect besides the defective CFTR channel gating resulting in a lower in vitro response to ivacaftor than all the other gating mutations [ 5].
However, the proteins involved in these processing defect and the underlying mechanisms are unknown.
Substantial incorporation of immature 30S subunit into the 70S ribosome itself could be a cellular disorder due to the processing defect in the rRNA maturation.
Another member of the carboxypeptidase family, carboxypeptidase E (CPE) has been reported to cause proinsulin processing defect in its mice mutant (Naggert et al., 1995).
Homozygous Q1069R substitution results in an ACE trafficking and processing defect which can be rescued, at least in cell culture, by a combination of chaperones and proteasome inhibitors.
Expression of PS1 M146L and PS1 H163R mutants in PS−/− cells rescues the processing of β-neurexin-1, whereas PS1 C410Y and PS1 ΔE9 fail to rescue the processing defect.
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NEDD4L has many different isoforms (Chen et al., 2001; Dunn et al., 2002; Itani et al., 2005), but isoform 2 (also called NEDD4-2s, and here termed NEDD4L) potently stimulates the budding of crippled HIV-1 constructs, and uniquely rescues the Gag processing defects that accompany defective budding (Chung et al., 2008; Usami et al., 2008).
For example, overexpressing PEX5 confers sucrose dependence and enhances PTS2 processing defects in Arabidopsis pex10-2, a mutant defective in one of the RING-finger peroxins [ 14].
The absence of beads (= equals the processing defects) suggested the appropriate solvent and process parameter selection for the present medicated nanofibrous system.
And thirdly, that pre-mRNA processing defects feed back on transcription and down-regulate the synthesis of the defective transcripts (see below).
A two-step buffer Si growth procedure was employed to remove the processing defects and residual surface contamination.
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