Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6022372 | Neurobiology of Disease | 2013 | 13 Pages |
Abstract
⺠We report novel missense mutations in the GlyR β subunit gene causing startle disease. ⺠Mutation M177R in the extracellular domain decreases GlyR agonist affinity. ⺠Mutation L285R in TM2 produces spontaneously active channels. ⺠Mutation W310C in TM3 affects hydrophobic stacking and shows incomplete dominance. ⺠Mutations in GLRB have unique pathogenic mechanisms and modes of inheritance.
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Authors
Victoria M. James, Anna Bode, Seo-Kyung Chung, Jennifer L. Gill, Maartje Nielsen, Frances M. Cowan, Mihailo Vujic, Rhys H. Thomas, Mark I. Rees, Kirsten Harvey, Angelo Keramidas, Maya Topf, Ieke Ginjaar, Joseph W. Lynch, Robert J. Harvey,