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Uncovers a mechanism behind brain edema in a genetic disease, indicating NBCe1's role in pH regulation.
The most likely pathomechanism of this novel SLC4A4-related disease is that a depolarizing leak in NBCe1 disrupts astrocyte pH regulation, promoting swelling and impairing volume control. These findings uncover a previously unrecognized mechanism of genetic brain edema and establish NBCe1 as a critical modulator of astrocyte homeostasis.
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Bisseling et al. (2026) studied this question.
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