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Article

Non-coding RNAs in Wilson's Disease: Plausible drivers of hepatic symptom heterogeneity.

Mutation research. Reviews in mutation research - 1 Jan 2025

Sarkar Neelanjana, Saha Arpan, Roy Shubhrajit, Sengupta Mainak

Abstract excerpt

Wilson's disease (WD) is an autosomal recessive disorder caused by mutations in the ATP7B gene, which impair cellular copper excretion and lead to toxic copper accumulation in the liver, brain, and other organs. Clinically, WD presents with a broad spectrum of hepatic and neurological manifestations. The pronounced phenotypic variability among patients harboring identical ATP7B mutations, including affected...

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Identifiers

PMID: 41275576
DOI: 10.1016/j.mrrev.2025.108570

Genes

ATP7B

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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