Novel β subunit mutation causes a slow-channel syndrome by enhancing activation and decreasing the rate of agonist dissociation (original) (raw)
A ?-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome
Jose Lasalde
Annals of Neurology, 1996
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Active calcium accumulation underlies severe weakness in a panel of mice with slow-channel syndrome
Roberto Zayas
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2002
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Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms
Legier Rojas
Annals of Neurology, 2002
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Mutations in Different Functional Domains of the Human Muscle Acetylcholine Receptor Subunit in Patients with the Slow-Channel congenital Myasthenic Syndrome
David Beeson
Human Molecular Genetics, 1997
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Slow-channel transgenic mice: a model of postsynaptic organellar degeneration at the neuromuscular junction
Jose Lasalde
The Journal of neuroscience : the official journal of the Society for Neuroscience, 1997
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Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity
Andrew Engel
Neuron, 1995
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Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor α Subunit
Steven m. M Sine
The Journal of Neuroscience, 1997
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Slow-Channel Myasthenic Syndrome Caused By Enhanced Activation, Desensitization, and Agonist Binding Affinity Attributable to Mutation in the M2 Domain of the Acetylcholine Receptor a Subunit
Nina Bren
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New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome
Nina Bren
Human Molecular Genetics, 1996
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The Extracellular Linker of Muscle Acetylcholine Receptor Channels Is a Gating Control Element
Frank Salamone
The Journal of General Physiology, 2000
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Mechanism of verapamil action on wild-type and slow-channel mutant human muscle acetylcholine receptor
Sergio Fucile
Journal of Neurochemistry, 2010
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Activation of apoptotic pathways at muscle fiber synapses is circumscribed and reversible in a slow-channel syndrome model
Roberto Zayas
Neurobiology of Disease, 2006
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Decremental Response to High-Frequency Trains of Acetylcholine Pulses but Unaltered Fractional Ca2+ Currents in a Panel of "Slow-Channel Syndrome" Nicotinic Receptor Mutants
Claudio Grosman
The Journal of General Physiology, 2009
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Calcium channel subtypes contributing to acetylcholine release from normal, 4-aminopyridine-treated and myasthenic syndrome auto-antibodies-affected neuromuscular junctions
Federica Giovannini
British Journal of Pharmacology, 2002
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Attributable to Mutation in the M 2 Domain of the Acetylcholine Receptor a Subunit
Steven m. M Sine
1997
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Mutation in the M1 Domain of the Acetylcholine Receptor alpha Subunit Decreases the Rate of Agonist Dissociation
Anthony Auerbach
The Journal of General Physiology, 1997
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Mutation of single murine acetylcholine receptor subunits reveals differential contribution of P121 to acetylcholine binding and channel opening
Alon Korngreen
Pflügers Archiv - European Journal of Physiology, 2005
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Role of L-type and N-type Voltage-dependent Calcium Channels (VDCCs) on Spontaneous Acetylcholine Release at the Mammalian Neuromuscular Junction
Adriana Losavio
Annals of the New York Academy of Sciences, 1998
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Pathogenic point mutations in a transmembrane domain of the subunit increase the Ca2+ permeability of the human endplate ACh receptor
katiuscia MARTINELLO
Journal of Physiology-london, 2007
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Subunit-specific contribution to agonist binding and channel gating revealed by inherited mutation in muscle acetylcholine receptor M3-M4 linker
Andrew Engel
Brain, 2004
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Mutation in the M1 Domain of the Acetylcholine Receptor a Subunit Decreases the Rate of Agonist Dissociation
Andrew Engel, Steven m. M Sine
2000
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Electrophysiological properties of the hypokalaemic periodic paralysis mutation (R528H) of the skeletal muscle α1S subunit as expressed in mouse L cells
Cyril Goudet, Joël Nargeot
FEBS Letters, 1996
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Slow-Channel Syndromes • review article • Decoding Pathogenesis of Slow-channel congenital Myasthenic Syndromes using recombinant expression and Mice Models
Emanuel Reyes
2010
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The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation
Dennis Bulman
The Journal of neuroscience : the official journal of the Society for Neuroscience, 2000
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Pathogenic point mutations in a transmembrane domain of the ε subunit increase the Ca 2+ permeability of the human endplate ACh receptor
Andrew Engel
The Journal of Physiology, 2007
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The human adult subtype ACh receptor channel has high Ca2+ permeability and predisposes to endplate Ca2+ overloading
Andrew Engel
The Journal of Physiology, 2006
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The human adult subtype ACh receptor channel has high Ca2+permeability and predisposes to endplate Ca2+overloading
Sergio Fucile
The Journal of Physiology, 2006
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