Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia
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DOI: 10.1007/s00018-017-2704-9
Abstract: Mutations in the human TMEM16E (ANO5) gene are associated both with the bone disease gnathodiaphyseal dysplasia (GDD; OMIM: 166260) and muscle dystrophies (OMIM: 611307, 613319). However, the physiological function of TMEM16E has remained unclear. We… read more here.
Keywords: function tmem16e; tmem16e ano5; tmem16e; function ... See more keywords
Activation of TMEM16E scramblase induces ligand independent growth factor receptor signaling and macropinocytosis for membrane repair
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DOI: 10.1038/s42003-025-07465-6
Abstract: The calcium-dependent phospholipid scramblase TMEM16E mediates ion transport and lipid translocation across the plasma membrane. TMEM16E also contributes to protection of membrane structure by facilitating cellular repair signaling. Our research reveals that TMEM16E activation promotes… read more here.
Keywords: tmem16e; scramblase; growth factor; membrane ... See more keywords