After establishing transgenic lines for each mutation, we characterized the protein levels of two independent lines for each mutation by western blot and found that they expressed transgenic MeCP2 at levels similar to those of endogenous MeCP2, thus doubling the total MeCP2 level.
In the following sections, we describe the conditional mutations we have characterized for each affected locus.
To better understand this, we characterized mutations that optimized expression of a plasmid-borne metabolic pathway during laboratory evolution of a bacterium.
To evaluate this hypothesis, we characterized mutations in the pseudosubstrate region.
Recently, we characterized mutations in the F-box only protein 7 (FBXO7) gene, encoding the F-box protein 7 (FBXO7), as the cause of PARK15, an autosomal recessive neurodegenerative disease presenting with juvenile, severe levodopa-responsive parkinsonism and additional pyramidal signs [10].
Using biochemical, mutation, and cellular analyses, we characterized important domains involved in the functionality of a RNA-binding protein in RNA splicing.
IMPACT: The novel mutation we have characterized here harbours an unusual combination of risk factors which may synergistically contribute to the development of early onset AD and has never been described before.
Here, we characterized the mutations found in the mucA, lasR, mexZ and MRS genes in P. aeruginosa isolates obtained from Argentinean CF patients, and analyzed the potential association of mucA, lasR and mexZ mutagenesis with MRS-deficiency and antibiotic resistance.
Unfortunately, AGS3 constructs that we characterized carrying mutations of the site to Ala or Asp did not affect the level or mobility of slowest-migrating band, implying that another phosphorylation site or sites are involved in our observations reported here (data not shown).
We characterized two mutations in greater detail, one in the plug (R66I) and the other at the lumenal end of TM3 (M136TM3
