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We provide a detailed account of the consequences of this mutation on axonal and dendritic morphogenesis as well as dendritic spine development in cultured hippocampal and cortical neurons.
In the later part of the study, we evaluated the clinical consequences of this mutation.
We have also demonstrated that a V326N mutation in Als5p prevents formation of surface nanodomains [43], but have not previously shown the functional consequences of this mutation.
Further experiments are required to fully understand the consequences of this mutation.
We further investigated the functional consequences of this mutation by evaluating its impact on second-messenger signalling.
H334R HDAC8 exhibits 91% residual activity compared with the wild-type enzyme (Table 1), so the functional consequences of this mutation are minimal.
Similar(45)
As a consequence of this mutation the ability of the Gα subunit to dissociate from Gβγ is inhibited causing constitutive inactivation of heterotrimeric G-protein signalling (Yu et al., 1996).
This clearly demonstrates that gain-of-function is the dominant consequence of this mutation.
A consequence of this mutation is that the mutant enzyme is less stable thermally in vitro.
However, in vitro functional studies are needed to confirm the consequence of this mutation.
The consequence of this mutation is a truncated protein without NLC2 and 3 motifs at the C-terminus.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com