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Christopher A. Reid et al.
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R. J. Delahanty et al.
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Nicole A. Hawkins et al.
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Kerry A. Geiler-Samerotte et al.
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SCIENCE (2011)
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JOURNAL OF NEUROSCIENCE (2010)
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Jing-Qiong Kang et al.
JOURNAL OF NEUROSCIENCE (2009)
The GABRG2 Mutation, Q351X, Associated with Generalized Epilepsy with Febrile Seizures Plus, Has Both Loss of Function and Dominant-Negative Suppression
Jing-Qiong Kang et al.
JOURNAL OF NEUROSCIENCE (2009)
Slow Growth Induces Heat-Shock Resistance in Normal and Respiratory-deficient Yeast
Charles Lu et al.
MOLECULAR BIOLOGY OF THE CELL (2009)
Making sense of nonsense GABAA receptor mutations associated with genetic epilepsies
Jing-Qiong Kang et al.
TRENDS IN MOLECULAR MEDICINE (2009)
Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy
Miyabi Tanaka et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus
Huihui Sun et al.
JOURNAL OF HUMAN GENETICS (2008)
Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1 B mice
Maria Pennuto et al.
NEURON (2008)
Global changes to the ubiquitin system in Huntington's disease
Eric J. Bennett et al.
NATURE (2007)
The GABAA receptor α1 subunit epilepsy mutation A322D inhibits transmembrane helix formation and causes proteasomal degradation
Martin J. Gallagher et al.
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GODZ-mediated palmitoylation of GABAA receptors is required for normal assembly and function of GABAergic inhibitory synapses
Cheng Fang et al.
JOURNAL OF NEUROSCIENCE (2006)
Effect of ubiquitin expression on neuropathogenesis in a mouse model of familial amyotrophic lateral sclerosis
CA Gilchrist et al.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY (2005)
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
K Inoue et al.
NATURE GENETICS (2004)
The GABAA receptor γ2 subunit R43Q mutation linked to childhood absence epilepsy and febrile seizures causes retention of α1β2γ2S receptors in the endoplasmic reticulum
JQ Kang et al.
JOURNAL OF NEUROSCIENCE (2004)
Allelic variation in normal human FBN1 expression in a family with Marfan syndrome:: a potential modifier of phenotype?
S Hutchinson et al.
HUMAN MOLECULAR GENETICS (2003)
Protein aggregation and the ubiquitin proteasome pathway: gaining the UPPer hand on neurodegeneration
SJS Berke et al.
CURRENT OPINION IN GENETICS & DEVELOPMENT (2003)
The ubiquitin proteasome system acutely regulates presynaptic protein turnover and synaptic efficacy
SD Speese et al.
CURRENT BIOLOGY (2003)
How the ubiquitin-proteasome system controls transcription
M Muratani et al.
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2003)
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
P Cossette et al.
NATURE GENETICS (2002)
Truncation of the GABAA-receptor γ2 subunit in a family with generalized epilepsy with febrile seizures plus
LA Harkin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Regulation of transcriptional activation domain function by ubiquitin
SE Salghetti et al.
SCIENCE (2001)
Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures
RH Wallace et al.
NATURE GENETICS (2001)
Protein regulation by monoubiquitin
L Hicke
NATURE REVIEWS MOLECULAR CELL BIOLOGY (2001)
GABAA receptor assembly -: Identification and structure of γ2 sequences forming the intersubunit contacts with α1 and β3 subunits
T Klausberger et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2000)