New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms.


Bode A., Wood S., Mullins J., Keramidas A., Cushion T., Thomas R., ...More

The Journal of biological chemistry, vol.288, pp.33745-59, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 288
  • Publication Date: 2013
  • Doi Number: 10.1074/jbc.m113.509240
  • Journal Name: The Journal of biological chemistry
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.33745-59
  • Keywords: Chloride Channels, Cys-Loop Receptors, Glycine Receptors, Neurological Diseases, Patch Clamp Electrophysiology, CYS-LOOP RECEPTORS, STARTLE DISEASE, COMPOUND HETEROZYGOSITY, FUNCTIONAL-CHARACTERIZATION, SPORADIC HYPEREKPLEXIA, TRANSMEMBRANE SEGMENT, NONSENSE MUTATIONS, MISSENSE MUTATION, CHLORIDE CHANNELS, ALPHA-1 SUBUNIT
  • Kocaeli University Affiliated: Yes