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A mutational atlas for Parkin proteostasis

A mutational atlas for Parkin proteostasis

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6ff4219e4bce40eb81ed52752e8585a9

A mutational atlas for Parkin proteostasis

About this item

Full title

A mutational atlas for Parkin proteostasis

Publisher

London: Nature Publishing Group UK

Journal title

Nature communications, 2024-02, Vol.15 (1), p.1541-17, Article 1541

Language

English

Formats

Publication information

Publisher

London: Nature Publishing Group UK

More information

Scope and Contents

Contents

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...

Alternative Titles

Full title

A mutational atlas for Parkin proteostasis

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_6ff4219e4bce40eb81ed52752e8585a9

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_6ff4219e4bce40eb81ed52752e8585a9

Other Identifiers

ISSN

2041-1723

E-ISSN

2041-1723

DOI

10.1038/s41467-024-45829-4

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