Research Topics
Genomes and Genes | Stephen C CannonSummaryAffiliation: University of Texas Southwestern Medical Center Country: USA Publications
Research Grants
| Collaborators
|
Detail Information
Publications
Pathomechanisms in channelopathies of skeletal muscle and brainStephen C Cannon
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA
Annu Rev Neurosci 29:387-415. 2006..The study of these disorders has provided insights on channel structure-function relations, the physiological roles of ion channels, and rational approaches toward therapeutic intervention for many disorders of cellular excitability...
Sodium channels gone wild: resurgent current from neuronal and muscle channelopathiesStephen C Cannon
Department of Neurology, University of Texas Southwestern Medical Center, 5223 Harry Hines Blvd, Dallas, Texas 75390 8813, USA
J Clin Invest 120:80-3. 2010..The results of this study suggest a widespread pathophysiological role for this mechanism, previously described to occur normally in only a few types of neurons...- Voltage-sensor mutations in channelopathies of skeletal muscleStephen C Cannon
Department of Neurology and Program in Neuroscience, 5323 Harry Hines Blvd, UT Southwestern Medical Center, Dallas, TX 75390 8813, USA
J Physiol 588:1887-95. 2010.... - Physiologic principles underlying ion channelopathiesStephen C Cannon
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas 55390 8813, USA
Neurotherapeutics 4:174-83. 2007.... - A calcium channel mutant mouse model of hypokalemic periodic paralysisFenfen Wu
Department of Neurology and Neurotherapeutics, University of Texas Southwestern Medical Center, Dallas, Texas 75390 8813, USA
J Clin Invest 122:4580-91. 2012..4 R669H HypoPP mouse model. This "gating pore current" may be a common mechanism for paradoxical depolarization and susceptibility to HypoPP arising from missense mutations in the S4 voltage sensor of either calcium or sodium channels... - Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesisArie F Struyk
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
J Gen Physiol 132:447-64. 2008.... - Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weaknessLawrence J Hayward
Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01655, USA
J Clin Invest 118:1437-49. 2008.... - A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysisFenfen Wu
Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, Texas 75390 8813, USA
J Clin Invest 121:4082-94. 2011..4 channels... - Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotoniaJadon Webb
Department of Neurology, UT Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390 8813, USA
Neurology 70:755-61. 2008..An atypical phenotype with cold-induced hypokalemic paralysis and myotonia at warm temperatures was reported to segregate with the P1158S mutation... - Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotoniaDavid G Francis
Department of Anesthesiology, UT Southwestern Medical Center, Dallas, TX, USA
Neurology 76:1635-41. 2011..Herein, we test whether disease-associated Na(V)1.4 mutations in previously untested homologous regions of the channel also give rise to the anomalous current... - A Na+ channel mutation linked to hypokalemic periodic paralysis exposes a proton-selective gating poreArie F Struyk
Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA
J Gen Physiol 130:11-20. 2007..Rather, it is possible that a sustained proton leak may contribute to instability of V(REST) indirectly, for instance, by interfering with intracellular pH homeostasis... 
Slow inactivation of the NaV1.4 sodium channel in mammalian cells is impeded by co-expression of the beta1 subunitJadon Webb
Neuroscience Program, UT Southwestern Medical Center, Dallas, TX 75390, USA
Pflugers Arch 457:1253-63. 2009..Furthermore, the beta1 effect on slow inactivation was shown to be independent of the negative coupling between fast and slow inactivation...- A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivationFen-Fen Wu
Department of Neurology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390-9036, USA
J Physiol 565:371-80. 2005.... - Slow inactivation does not block the aqueous accessibility to the outer pore of voltage-gated Na channelsArie F Struyk
Department of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA
J Gen Physiol 120:509-16. 2002..We interpret these results as evidence that the outer mouth of the Na pore remains open while the channel is slow inactivated... - The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotypeElena Kudryashova
Department of Neurology, Center for Duchenne Muscular Dystrophy at UCLA, David Geffen School of Medicine at UCLA, Los Angeles, CA 90095, USA
Hum Mol Genet 20:3925-32. 2011..Thus, one potential mechanism of LGMD2H might be destabilization of mutated TRIM32 protein leading to a null phenotype... - Paradoxical depolarization of BA2+- treated muscle exposed to low extracellular K+: insights into resting potential abnormalities in hypokalemic paralysisArie F Struyk
Department of Neurology, University of Texas Southwestern Medical Center, 6001 Forest Park Avenue, ND4 214B, Dallas, TX 75390 8813, USA
Muscle Nerve 37:326-37. 2008.... - Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysisFenfen Wu
Department of Neurology and Neurotherapeutics, UT Southwestern Medical Center, Dallas, TX, USA
Neurology 80:1110-6. 2013..To test the hypothesis that inhibition of the Na-K-2Cl transporter with bumetanide will reduce the susceptibility to decreases in muscle force in a mouse model of hypokalemic periodic paralysis (HypoPP)... - Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophyAmi Mankodi
Department of Neurology, School of Medicine and Dentistry, University of Rochester, Box 673, 601 Elmwood Avenue, New York 14642, USA
Mol Cell 10:35-44. 2002..We propose that a transdominant effect of mutant RNA on RNA processing leads to chloride channelopathy and membrane hyperexcitability in DM... - Paying the price at the pump: dystonia from mutations in a Na+/K+ -ATPaseStephen C Cannon
Department of Neurology, UT Southwestern Medical Center at Dallas, TX 75390, USA
Neuron 43:153-4. 2004..In this issue of Neuron, de Carvalho Aguiar and colleagues report the identification of missense mutations in the gene for the Na+/K+ -ATPase alpha3 subunit (ATP1A3) as a cause of rapid-onset dystonia-parkinsonism (RDP, DYT12)... - Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysisChih Jen Cheng
Department of Medicine, Division of Nephrology, University of Texas, Southwestern Medical Center, Dallas, Texas 75390 8856, USA
J Biol Chem 286:27425-35. 2011..6 predisposes the sarcolemma to hypokalemia-induced paradoxical depolarization during attacks, which in turn leads to Na(+) channel inactivation and inexcitability of muscles... - An expanding view for the molecular basis of familial periodic paralysisStephen C Cannon
Department of Neurology, Massachusetts General Hospital Wellman 423, 50 Blossom Street, Boston, MA 02114, USA
Neuromuscul Disord 12:533-43. 2002..This review focuses on the clinical features, molecular genetic defects, and pathophysiologic mechanisms that underlie familial periodic paralysis... - Gating behaviour of sodium currents in adult mouse muscle recorded with an improved two-electrode voltage clampYu Fu
Program in Neuroscience, UT Southwestern Medical Center, Dallas, TX 75390, USA
J Physiol 589:525-46. 2011..These results provide normative data for sodium channels natively expressed in mouse muscle and illustrate the need to modify model simulations of muscle excitability to account for the hyperpolarized shift... - Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl currentJim Berg
Department of Neurobiology, Harvard Medical School, Boston, MA, USA
Neurology 63:2371-5. 2004.... - Myasthenic syndrome caused by mutation of the SCN4A sodium channelAkira Tsujino
Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA
Proc Natl Acad Sci U S A 100:7377-82. 2003..The V1442E mutation in SCN4A defines a novel disease mechanism and a novel phenotype with myasthenic features... - Sodium channel gating: no margin for errorStephen C Cannon
Department of Neurobiology, Harvard Medical School and Massachusetts General Hospital, Wellman 423/Massachusetts General Hospital, Boston, MA 02114, USA
Neuron 34:853-4. 2002....
Research Grants
- Molecular Physiology of Neuromusclar DiseasesStephen Cannon; Fiscal Year: 2007..abstract_text> ..
- MOLECULAR PHYSIOLOGY OF NEUROMUSCULAR DISEASESStephen Cannon; Fiscal Year: 2002....