The thapsigargin-sensitive Ca 2+ stores, which are defined as the difference between peak and basal cytosolic [Ca 2+ ], were decreased in the patient’s fibroblasts, although this difference did not reach statistical significance ( Fig. 4I ).
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A novel CISD2 mutation associated with a classical Wolfram syndrome phenotype alters Ca2+ homeostasis and ER-mitochondria interactions.
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