Article
Computational Exploration of Protein Structure Dynamics and RNA structural Consequences of <i>PKD1</i> Missense Variants: Implications in ADPKD Pathogenesis
2024-03-26
Abstract excerpt
Autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder characterized by the formation of fluid-filled cysts within the kidneys, leading to progressive renal dysfunction, is primarily caused by mutations in PKD1 , a gene encoding for the protein polycystin-1 (PC1). Understanding the structural consequences of PKD1 variants is crucial for elucidating disease mechanisms and developing targeted the...
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Identifiers and source
- Literature Corpus work
- 0c3de3f5-9c10-53c6-96fe-3a837d20a914
- DOI
- 10.1101/2024.03.21.586139
