PTC124 targets genetic disorders caused by nonsense mutations

Article Abstract:

A new chemical entity, PTC124, is identified that selectively induces ribosomal readthrough of premature but not normal termination codons in order to address the need for a drug capable of suppressing premature termination. The selectivity of PTC124 for premature termination codons and its pharmacological properties have indicated that this drug can be used for the treatment of a large group of genetic disorders with limited or no therapeutic options.

Suppression, Genetic, Molecular genetics, Pharmaceutical research, Suppressor mutation

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Cleavage of pre-tRNAs by splicing endonuclease requires a composite active site

Article Abstract:

The role of the cross-unit interaction between the two catalytic subunits within the eukaryotic endonuclease is tested and it is showed that the catalysis at the 5' splice site requires the conserved cation-pi sandwich derived from the Sen34 subunit in addition to the catalytic triad of Sen2. It is observed that the catalysis of pre-tRNA by the eukaryotic tRNA-splicing endonuclease therefore requires a previously unrecognized composite active site.

Physiological aspects, Eukaryotes, Transfer RNA, Genetic research

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The big catch

Article Abstract:

An elegant chromatographic purification is used for catching an enzyme from human cell extract that adds a phosphate group to the 5' end of an RNA molecule. The researchers have shown the ability of human Clp1 (hClp1) to phosphorylate substrates involved in both RNA interference (RNAi) and transfer RNA (tRNA) splicing indicating a functional link between the two fundamental processes of RNA metabolism.

Human cell culture, RNA interference

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