Effect of torsinA on membrane proteins reveals a loss of function and a dominant-negative phenotype of the dystonia-associated ΔE-torsinA mutant

Most cases of early-onset torsion dystonia (EOTD) are caused by a deletion of one glutamic acid in the carboxyl terminus of a protein named torsinA. The mutation causes the protein to aggregate in perinuclear inclusions as opposed to the endoplasmic reticulum localization of the wild-type protein. A...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Proc Natl Acad Sci U S A
Prif Awduron: Torres, Gonzalo E., Sweeney, Ava L., Beaulieu, Jean-Martin, Shashidharan, Pullani, Caron, Marc G.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: National Academy of Sciences 2004
Pynciau:
Biological Sciences
Mynediad Ar-lein:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC524822/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15505207/
https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.0308088101
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