Article
Inhibition of N-linked glycosylation prevents inclusion formation by the dystonia-related mutant form of torsinA.
Molecular and cellular neurosciences - 1 Dec 2004
Bragg D Cristopher, Kaufman Caroline A, Kock Norman, Breakefield Xandra O
Abstract excerpt
Most cases of early-onset torsion dystonia are associated with a mutation in the DYT1 gene that results in the loss of a glutamic acid residue in the carboxy terminus of the encoded protein, torsinA. When overexpressed in cultured cells, wild-type torsinA distributes diffusely throughout the endoplasmic reticulum (ER), while the dystonia-related mutant, torsinADeltaE, accumulates within multilamellar membrane...
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