SMG9 is an essential component of the nonsense-mediated mRNA decay (NMD) machinery, a quality control mechanism that selectively degrades aberrant transcripts. Mutations in SMG9 are associated with heart and brain malformation syndrome (HBMS). However, the molecular mechanism underlying HBMS remains unclear.
View Article and Find Full Text PDFA previously healthy 22-year-old woman was admitted to our hospital after an out-of-hospital cardiac arrest. Spontaneous circulation was restored prior to arrival at the hospital. However, the patient's vital signs remained unstable.
View Article and Find Full Text PDFV-ATPase is an ATP hydrolysis-driven proton pump involved in the acidification of intracellular organelles and systemic acid-base homeostasis through H secretion in the renal collecting ducts. V-ATPase dysfunction is associated with hereditary distal renal tubular acidosis (dRTA). ATP6V1B1 encodes the B1 subunit of V-ATPase that is integral to ATP hydrolysis and subsequent H transport.
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