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However, importantly, the W102Aβ mutant manifests a (43-fold) increase in catalytic efficiency in processing 2 compared with FPP.
The zebrafish feelgood mutant manifests a severely malformed head skeleton and shortened body length due to defects in the maturation stage of chondrocyte development.
Since the Y205Aβ mutant manifests a KM value that is submicromolar, it is relatively easy to saturate the enzyme with 3 and hence fully capitalize on the ca. 5-fold improvement in kcat for in vitro protein labeling applications.
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The e1 mutant manifested a white-core phenotype [ 34] and the morphology of the 4019 mutant was almost completely opaque.
The Nef E177K mutant manifested a reduction in both α σ2 binding and CD4 downregulation, consistent with its structural role.
The dfmr1 50M null mutant manifests well-documented defects in the MB α-, β- and γ-lobes; these defects are characterized by axonal overgrowth of Kenyon cell neurons (Pan et al., 2004; Tessier and Broadie, 2008) and have been best characterized in the MB γ-lobe neurons, which show increased axonal length and excess synaptic branching in the dfmr1 null brain compared with controls (Fig. 3).
The mTOR(L2209V) mutant manifested marked transforming potential in a focus formation assay with mouse 3T3 fibroblasts, and it induced the phosphorylation of p70 S6 kinase, S6 ribosomal protein, and eukaryotic translation initiation factor 4E binding protein 1 in these cells.
The effects in rpk1 mutants manifest in a spatially and timely stochastic fashion probably due to redundancy of RPK1-like functions.
Being an autosomal recessive disorder, individuals with two Atm mutant alleles manifest a broad spectrum of neurological, oncological and immunological pathologies but fortunately the population frequency of Atm patients is relatively low.
Here, we show that membralin mutant mice manifest a severe and early-onset motor neuron disease in an autosomal recessive manner, dying by postnatal day 5 6.
In summary, overexpression of either Tej or Tap in tej 48 5 -tap 125 mutants manifests the observed phenotypes in the reciprocal single mutants, suggesting that Tej and Tap cannot complement each other's function and likely have a synergistic relationship for localization of piRNA pathway components.
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