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Showing 1 to 2 of 2 for “"SFTPC"”.

  1. Identification and characterisation of novel interactors of surfactant protein C

    … pathogenic variants of surfactant protein C (SFTPC) can cause familial pulmonary fibrosis. The most common, SFTPC-I73T, aberrantly localises to the plasma membrane and causes alveolar type 2 (AT2) dysfunction via a poorly understood toxic gain-of-function. Understanding the mechanisms of SFTPC

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  2. A study of the causes and consequences of SFTPC mistrafficking in alveolar type 2 cells using novel organoid models

    … by pathogenic variants of surfactant protein C (SFTPC), offer an opportunity to study these early events. The commonest pathogenic mutation, SFTPC-I73T, results in aberrant accumulation of immature protein at the plasma membrane and in early endosomes resulting in a toxic gain-of-function …

    cambridge Repository record for A study of the causes and consequences of SFTPC mistrafficking in alveolar type 2 cells using novel organoid models (opens in a new tab)