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Mutant FAM134B proteins that cause sensory neuropathy in humans are unable to act as ER-phagy receptors. performed apoptosis and autophagy analysis, and contributed to manuscript preparation and writing.
Consistently, disruption of Fam134b in mice causes expansion of the ER, inhibits ER turnover, sensitizes cells to stress-induced apoptotic cell death and leads to degeneration of sensory neurons. performed transmission electron microscopy of cells and neurons in culture.
performed transmission electron microscopy on murine tissues.
performed fractionation and autophagy flux experiments.
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