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The GABA(A) receptor α1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation
A form of autosomal dominant juvenile myoclonic epilepsy is caused by a nonconservative missense mutation, A322D, in the GABA(A) receptor α1 subunit M3 transmembrane helix. We reported previously that the A322D mutation reduced total and surface α1(A322D) subunit protein and that residual α1(A322D)...
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| Hauptverfasser: | , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
National Academy of Sciences
2007
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1941799/ https://ncbi.nlm.nih.gov/pubmed/17670950 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0700163104 |
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