Analysis of transthyretin in human serum by capillary zone electrophoresis electrospray ionization time-of-flight mass spectrometry. Application to familial amyloidotic polyneuropathy type I.

@article{Pont2015AnalysisOT,
  title={Analysis of transthyretin in human serum by capillary zone electrophoresis electrospray ionization time-of-flight mass spectrometry. Application to familial amyloidotic polyneuropathy type I.},
  author={L. G. Pont and Fernando Benavente and Jos{\'e} M Filho Barbosa and Victoria M Sanz-Nebot},
  journal={Electrophoresis},
  year={2015},
  volume={36 11-12},
  pages={
          1265-73
        }
}
Transthyretin (TTR) is known to misfold and aggregate, causing different types of amyloidosis. Familial amyloidotic polyneuropathy type I (FAP-I), which is the most common hereditary systemic amyloidosis, is associated with a TTR variant that presents a single amino acid substitution of valine for methionine at position 30 (Met 30). To screen for TTR-related amyloidosis rapidly and reliably, we have developed a novel procedure based on the analysis of monomers from the homotetrameric protein… CONTINUE READING
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