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For example, in Huntington's disease (HD) the CAG expansion mutation is translated as part of the huntingtin protein, which results in protein aggregation and cellular dysfunction (4).
For protein gain-of-function diseases, the expansion mutation is translated as part of a larger open-reading frame (ORF), resulting in the expression of a mutant protein that disrupts cellular function and induces toxicity.
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This general principle is the mechanism for how phenotypic effects of mutations are translated by environment into the phenotype's fitness.
Understanding the molecular nature of mutations and the mechanisms by which mutations are translated into specific (and often complex) phenotypes, however, still looms as a major goal of mammalian biology.
These mutations are translated into expanded glutamine chains in pathological proteins such as huntingtin (HTT) or ataxin-1 (AThe1) 2. thresholdhold for the pathogenic length of polyQ expansions is disease specific and correlates with the age at onset of the disease.
The Piedmontese MSTN missense mutation G938A is translated to C313Y myostatin protein.
The Piedmontese MSTN missense mutation G938A is translated to C313Y myostatin protein with the consequent loss of one of the disulphide bonds (C313-C374) involved in the characteristic TGF-b family cystine-knot structural motif [ 10].
The HD mutation is an expanded CAG repeat in the HD gene that is translated into a polyglutamine (polyQ) repeat in the huntingtin (Htt) protein [2].
The HD mutation is an expanded CAG trinucleotide repeat in the HD gene that is translated into a polyglutamine (polyQ) repeat in the huntingtin (Htt) protein [2].
Everything is translated into possession.
HHS is translated into Danish.
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