Effect of SNPs on Creatine Kinase Structure and Function: Identifying Potential Molecular Mechanisms for Possible Creatine Kinase Deficiency Diseases
نویسندگان
چکیده
منابع مشابه
Effect of SNPs on Creatine Kinase Structure and Function: Identifying Potential Molecular Mechanisms for Possible Creatine Kinase Deficiency Diseases
Single-nucleotide polymorphisms (SNPs) are common genetic material changes that often occur naturally. SNPs can cause amino acid replacements that may lead to severe diseases, such as the well-known sickle-cell anemia. We constructed eight SNP mutants of human brain-type creatine kinase (CKB) based on bioinformatics predictions. The biochemical and biophysical characteristics of these SNP mutan...
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*Many methods for measuring creatine are known, the principal ones being direct calorimetric assay (l), indirect calorimetric assay (2), and destruction with bacterial adaptive enzymes (3). However, none of these methods are specific nor are they sensitive enough to detect very small amounts of creatine. rIhese assays have been used to examine urine and serum for creatine content, but, because ...
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Over 400 laboratories participated in an interlaboratory study of creatine kinase (EC 2.7.3.2) in which they were requested to analyze five lyophilized samples for total creatine kinase and creatine kinase isoenzymes and to complete a questionnaire regarding methodology. The specimens were prepared from an homogenate of human myocardium that had been centrifuged, dialyzed, and added to a matrix...
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ژورنال
عنوان ژورنال: PLoS ONE
سال: 2012
ISSN: 1932-6203
DOI: 10.1371/journal.pone.0045949