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Publications by L. J. Macala
NaV1.7 Gain-Of-Function Mutations as a Continuum: A1632E Displays Physiological Changes Associated With Erythromelalgia and Paroxysmal Extreme Pain Disorder Mutations and Produces Symptoms of Both Disorders
Journal of Neuroscience
Neuroscience
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CNV1014802 Rescues the Paroxysmal Extreme Pain Disorders Nav1.7 Mutants by Restoring Impaired Inactivation
Biophysical Journal
Biophysics
Loss-Of-Function Mutations in Sodium Channel Nav1.7 Cause Anosmia
Nature
Multidisciplinary
Kinetic Modeling of Nav1.7 Provides Insight Into Erythromelalgia-Associated F1449V Mutation
Journal of Neurophysiology
Neuroscience
Physiology
Structural Mechanism Associated With Domain Opening in Gain-Of-Function Mutations in SHP2 Phosphatase
Proteins: Structure, Function and Genetics
Biochemistry
Structural Biology
Molecular Biology
Disparate Mutations Confer Therapeutic Gain of Hsp104 Function
ACS Chemical Biology
Biochemistry
Medicine
Molecular Medicine
Contrasting Clinical Presentations in Brothers With Identical STAT3 Gain-Of-Function Mutations
Journal of Allergy and Clinical Immunology
Allergy
Immunology
Corrigendum: Gain-Of-Function SOS1 Mutations Cause a Distinctive Form of Noonan Syndrome
Nature Genetics
Genetics
In Vivo Severity Ranking of Ras Pathway Mutations Associated With Developmental Disorders
Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
Hypertension Due to Gain-Of-Function Mutations in the Mineralocorticoid Receptor
