Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"Patient Fibroblast"”.
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Post-translational control of mitochondria by Fbxo7 in Parkinson's disease
… understood. In this thesis I characterised two patient fibroblast cell lines with novel mutations in FBXO7. A leucine to proline mutation at amino acid 250 was found to be destabilising and to disrupt the interaction between Fbxo7 and its binding partner PI31. Fibroblasts carrying this mutation …
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Translational defects in multiple tissues from the Smn2B/- mouse model of SMA.
… Validation studies in both mice and SMA patient-derived fibroblasts further underscored the potential of translational dysregulation and drop in Col1a1 protein expression during SMA progression. Finally, prenatal studies have revealed distinct translational changes in embryonic tissues …