کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2047793 | 1074030 | 2013 | 5 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Fast prediction of deleterious angiogenin mutations causing amyotrophic lateral sclerosis Fast prediction of deleterious angiogenin mutations causing amyotrophic lateral sclerosis](/preview/png/2047793.png)
• Functional loss mechanisms of angiogenin mutants causing ALS are poorly understood.
• Conformational switching of His114 causes loss of ribonucleolytic activity.
• Local folding of 31RRR33 residues results in loss of nuclear translocation activity.
• Hydrogen bond interactions correlate with loss of ribonucleolytic activity.
• Deleterious angiogenin mutations causing ALS can be predicted quickly.
Certain single nucleotide polymorphisms causing missense mutations in angiogenin result in its loss-of-function and onset of amyotrophic lateral sclerosis (ALS). Although several such associations are reported across diverse ethnic groups, no method is available for predicting if a new mutation is deleterious. We present here a fast molecular dynamics based method for determining the mechanisms of functional loss caused by mutations, and attributes to ascertain whether a mutation causes ALS.
Journal: FEBS Letters - Volume 587, Issue 12, 19 June 2013, Pages 1762–1766