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In silico and functional characterisation of an ultra-rare CFTR mutation identifies novel lasso motif interactions regulating channel gating

2021-12-12

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Characterisation of I37R – a novel mutation in the lasso motif of ABC-transporter CFTR, a chloride channel – was conducted by theratyping using CFTR potentiators which increase channel gating activity and correctors which repair protein trafficking defects. I37R-CFTR function was characterised using intestinal current measurements (ICM) in rectal biopsies, forskolin-induced swelling (FIS) in intestinal organoids a...

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Literature Corpus work: aa0789b1-fc32-5c8b-becf-c80260d562b0
DOI: 10.1101/2021.12.12.472297

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<i>In silico</i> and functional characterisation of an ultra-rare <i>CFTR</i> mutation identifies novel lasso motif interactions regulating channel gating

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