title: The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling.
authors.affiliation: Institut für Pharmakologie und Toxikologie, Universitätsklinikum Münster, Domagkstr. 12, 48149 Münster, Germany. kirchhef@uni-muenster.de
authors.forename: Uwe
authors.initials: U
authors.lastname: Kirchhefer
authors.forename: Diana
authors.initials: D
authors.lastname: Wehrmeister
authors.forename: Alex V
authors.initials: AV
authors.lastname: Postma
authors.forename: Gottfried
authors.initials: G
authors.lastname: Pohlentz
authors.forename: Michael
authors.initials: M
authors.lastname: Mormann
authors.forename: Dana
authors.initials: D
authors.lastname: Kucerova
authors.forename: Frank U
authors.initials: FU
authors.lastname: Müller
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Schmitz
authors.forename: Eric
authors.initials: E
authors.lastname: Schulze-Bahr
authors.forename: Arthur A
authors.initials: AA
authors.lastname: Wilde
authors.forename: Joachim
authors.initials: J
authors.lastname: Neumann
mesh_terms: D001145:Arrhythmias, Cardiac / Q000235:genetics / Q000378:metabolism; D002118:Calcium / Q000378:metabolism*; D002136:Calcium, Dietary / Q000378:metabolism; D002155:Calsequestrin / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D002352:Carrier Proteins; D002477:Cells / Q000378:metabolism; D006801:Humans; D032342:Muscle Cells / Q000378:metabolism; D009124:Muscle Proteins; D009154:Mutation; D020125:Mutation, Missense; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D012519:Sarcoplasmic Reticulum / Q000235:genetics / Q000378:metabolism; D017180:Tachycardia, Ventricular / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology
chemical_list: C443109:CASQ2 protein, human; D002136:Calcium, Dietary; D002155:Calsequestrin; D002352:Carrier Proteins; D009124:Muscle Proteins; D019837:Ryanodine Receptor Calcium Release Channel; C070048:triadin; D002118:Calcium