The human CASQ2 mutation K206N is associated with hyperglycosylation and altered cellular calcium handling.
Kirchhefer
Uwe
U
Institut für Pharmakologie und Toxikologie, Universitätsklinikum Münster, Domagkstr. 12, 48149 Münster, Germany. kirchhef@uni-muenster.de
Wehrmeister
Diana
D
Postma
Alex V
AV
Pohlentz
Gottfried
G
Mormann
Michael
M
Kucerova
Dana
D
Müller
Frank U
FU
Schmitz
Wilhelm
W
Schulze-Bahr
Eric
E
Wilde
Arthur A
AA
Neumann
Joachim
J
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
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