Predicted effects of missense mutations on native-state stability account for phenotypic outcome in phenylketonuria, a paradigm of misfolding diseases

Article Abstract:

The prediction of the energetic impact of phenylalanine hydroxylase (PAH) native-state stability of 318 phenylketonuria (PKU)-associated missense mutations was studied using protein-design algorithm FoldX. The decrease in protein stability was found to be main molecular pathogenic mechanism in PKU and the determinant for phenotypic outcome.

Proteins, Phenylketonuria, Hydroxylases, Phenylalanine

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Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA

Article Abstract:

Antisense therapeutics is used to prevent aberrant splicing seen in methylmalonic acidemia (MMA) and propionic acidemia (PA). The therapeutic strategy is useful in cases of deep intronic changes in patients mRNA.

Care and treatment, Messenger RNA, Peroxisomal disorders

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A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy

Article Abstract:

A dominant mutation in the gene encoding plakoglobin in a German family with arrhythmogenic right ventricular cardiomyopathy (ARVC) but no cutaneous abnormalities is reported.

Germany, Skin diseases, Heart diseases, Cardiomyopathy, Myocardial diseases

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