A mutational atlas for Parkin proteostasis
A mutational atlas for Parkin proteostasis
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London: Nature Publishing Group UK
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English
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London: Nature Publishing Group UK
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Proteostasis can be disturbed by mutations affecting folding and stability of the encoded protein. An example is the ubiquitin ligase Parkin, where gene variants result in autosomal recessive Parkinsonism. To uncover the pathological mechanism and provide comprehensive genotype-phenotype information, variant abundance by massively parallel sequenci...
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A mutational atlas for Parkin proteostasis
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TN_cdi_doaj_primary_oai_doaj_org_article_6ff4219e4bce40eb81ed52752e8585a9
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6ff4219e4bce40eb81ed52752e8585a9
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ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-024-45829-4