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Article

Molecular defects of the dystonia-causing torsinA mutation.

Neuroreport - 6 Nov 2006

Pham Phuong, Frei Karen P, Woo William, Truong Daniel D

Abstract excerpt

The DeltaGAG deletion mutation in DYT1, causing a loss of a glutamic acid near the carboxyl terminus of torsinA protein (torsinADeltaE), is dominantly inherited and tends to result in a severe generalized form of dystonia with childhood onset. We have used a yeast two-hybrid interaction assay to examine torsinA and its mutant torsinADeltaE interactions. Our data showed that torsinA monomers are capable of...

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PMID: 17047461
DOI: 10.1097/WNR.0b013e3280101220

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Molecular defects of the dystonia-causing torsinA mutation.PMID 17047461Read ↗

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