Trafficking-deficient mutant GABRG2 subunit amount may modify epilepsy phenotype

Multiple molecular mechanisms for a single GABAA mutation in epilepsy

(2013) C. A. Reid et al.   NEUROLOGY

Increased Hydrophobicity and Decreased Backbone Flexibility Explain the Lower Solubility of a Cataract-Linked Mutant of ?D-Crystallin

(2011) Priya R. Banerjee et al.   JOURNAL OF MOLECULAR BIOLOGY

Unfolded Proteins Are Ire1-Activating Ligands That Directly Induce the Unfolded Protein Response

(2011) B. M. Gardner et al.   SCIENCE

Slow Degradation and Aggregation In Vitro of Mutant GABAA Receptor  2(Q351X) Subunits Associated with Epilepsy

(2010) J.-Q. Kang et al.   JOURNAL OF NEUROSCIENCE

Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus

(2010) Nicole A. Hawkins et al.   NEUROBIOLOGY OF DISEASE

Misfolded proteins impose a dosage-dependent fitness cost and trigger a cytosolic unfolded protein response in yeast

(2010) K. A. Geiler-Samerotte et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Two Molecular Pathways (NMD and ERAD) Contribute to a Genetic Epilepsy Associated with the GABAA Receptor GABRA1 PTC Mutation, 975delC, S326fs328X

(2009) J.-Q. Kang et al.   JOURNAL OF NEUROSCIENCE

The GABRG2 Mutation, Q351X, Associated with Generalized Epilepsy with Febrile Seizures Plus, Has Both Loss of Function and Dominant-Negative Suppression

(2009) J.-Q. Kang et al.   JOURNAL OF NEUROSCIENCE

Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism

(2009) R J Delahanty et al.   MOLECULAR PSYCHIATRY

Making sense of nonsense GABAA receptor mutations associated with genetic epilepsies

(2009) Jing-Qiong Kang et al.   TRENDS IN MOLECULAR MEDICINE

Hyperglycosylation and Reduced GABA Currents of Mutated GABRB3 Polypeptide in Remitting Childhood Absence Epilepsy

(2008) Miyabi Tanaka et al.   AMERICAN JOURNAL OF HUMAN GENETICS

SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus

(2008) Huihui Sun et al.   JOURNAL OF HUMAN GENETICS

Slow Growth Induces Heat-Shock Resistance in Normal and Respiratory-deficient Yeast

(2008) Charles Lu et al.   MOLECULAR BIOLOGY OF THE CELL

Ablation of the UPR-Mediator CHOP Restores Motor Function and Reduces Demyelination in Charcot-Marie-Tooth 1B Mice

(2008) Maria Pennuto et al.   NEURON