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Author

Emily Fischer

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Open access Oct 2026

VPS13A loss of function mutations cause disruption of cellular calcium homeostasis and increase the vulnerability to ferroptosis.

VPS13A belongs to the family of bridge-like lipid transfer proteins, which connect opposing membranes at organelle contact sites in order to facilitate bulk lipid transfer. Loss of function mutations in the VPS13A gene cause VPS13A disease. Diminished store operated calcium entry has previously been described in patien...

Dajana Grossmann, Emily Fischer, My Uyen Dang Thi et al. · 0 citations

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