Lysozyme amyloidosis is caused by an amino acid substitution in the sequence of this protein. In our study, we described a clinical case lysozyme Russian family. work, detail histological changes tissues that appeared as result massive deposition amyloid aggregates affected almost all organ systems, with exception central nervous system. We determined type and mutations using mass spectrometry....

A previously constructed mutation of the histone H4 gene has been the subject of a detailed analysis. The mutation involves an H4 gene encoding two amino acid changes which substitute aspartic acid for glycine at positions 13 and 42 of the polypeptide. These substitutions result in a nonfunctional H4 protein when assayed in Saccharomyces cerevisiae. In contrast, an analysis of an amino terminal...