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<i>De novo</i> truncation variants in the low-complexity C-terminal region of <i>XRN1</i> are associated with a dominant form of lethal infantile mitochondrial cardiomyopathy

2026-01-11

Abstract excerpt

XRN1 encodes a highly conserved cytoplasmic 5’-3’ exoribonuclease involved in mRNA decay and quality control. It localizes to transient ribonucleoprotein aggregates, P-bodies and stress granules, where it interacts with other mRNA decay proteins and is involved in various cellular responses, including an emerging role in viral infection responses. Complete knockout of XRN1 in multicellular organisms is lethal, mos...

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Identifiers and source

Literature Corpus work
10364aae-60db-5a3f-b81a-d1d230b30a55
DOI
10.64898/2026.01.08.26343555
Open publication

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<i>De novo</i> truncation variants in the low-complexity C-terminal region of <i>XRN1</i> are associated with a dominant form of lethal infantile mitochondrial cardiomyopathyDOI 10.64898/2026.01.08.26343555
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