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The second is Five Alpha Reductase Deficiency (5-ARD), these individuals have a mutation which prevents the creation of dihydrotestosterone a hormone that triggers the formation of male genitalia.
To assess the role of transcriptional activity for the Bmp-Smad suppression activity, we expressed a mutant isoform of TBX1 (G145R) that carries a T-box mutation, which prevents DNA binding [20].
Among these is the K108A mutation, which prevents ATP hydrolysis but retains ER localization (Goodchild and Dauer, 2004; Naismith et al., 2004).
Astrocytes transfected with a dynamin-1 K44A mutation, which prevents endocytosis via the inhibition of endocytic vesicle formation, show a significant decrease in a-Syn uptake [ 37].
DOI: http://dx.doi.org/10.7554/eLife.02758.004 10.7554/eLiFigure58.005 Figure 1 figure supplement 2. L12A mutation, which prevents ParA ParB interaction, severely compromises ParB ability to activate ParA ATPase activity.
Consistent with the toxicity of LCBPs when LCB utilization by ceramide synthase is inefficient, an elo3 mutation, which prevents efficient formation of C26-CoA (an acyl chain found in yeast ceramides), was synthetically lethal with lcb3Δ (Kobayashi and Nagiec, 2003).
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However, the S89N and L114V mutation, which prevented Snl1-S from curing [URE3], did not disrupt the known activities of SnL1 to interact with Hsp70 or to perform its role related to the nuclear pore function of Nup116.
The duplications had been suspected by the presence of heterozygosity in the PCR products of a CYP21A2 fragment despite the fact that both individuals were carriers of p.Ile236Asn, p.Val237Glu, and p.Met239Lys mutations, which prevented the specific primer from its binding.
All 7 sequences include incapacitating mutations, which prevent translation of transposase.
Similarly, mice expressing mutations which prevent nuclear translocation, heterodimerization of AHR with ARNT, or AHRE binding are highly refractory to dioxin-induced toxicities [ 11, 19, 20].
Nonsense suppression was monitored in strains carrying the leu2-1 (Uand and tyr7-1 (UAG) nonsense mutations, which prevent growth on medium lacking leucine and tyrosine.
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Justyna Jupowicz-Kozak
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