Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype.

Kang, Jing-Qiong; Shen, Wangzhen; Macdonald, Robert L

Kang, Jing-Qiong; Shen, Wangzhen; Macdonald, Robert L.

Affiliation

Kang JQ; Departments of Neurology, Vanderbilt University Medical Center, Nashville, TN.

Ann Neurol ; 74(4): 547-59, 2013 Oct.

Article in En | MEDLINE | ID: mdl-23720301

Subject(s)

Codon, Nonsense/genetics; Epilepsy/genetics; Epilepsy/physiopathology; Protein Transport/genetics; Receptors, GABA-A/genetics; Animals; Cell Line, Transformed; Disease Models, Animal; Endoplasmic Reticulum/genetics; Endoplasmic Reticulum/metabolism; Gene Expression Regulation/genetics; Genotype; Glycosylation; Humans; Mice; Mice, Transgenic; Models, Molecular; Mutagenesis; Phenotype; Protein Subunits/genetics; Protein Subunits/metabolism; Receptors, GABA-A/deficiency; Transcription Factor CHOP/metabolism; Transfection; Ubiquitin/metabolism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Receptors, GABA-A / Codon, Nonsense / Protein Transport / Epilepsy Type of study: Prognostic_studies Limits: Animals / Humans Language: En Journal: Ann Neurol Year: 2013 Type: Article Affiliation country: Tunisia

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