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Article

An ADPRS variant disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure.

HGG advances - 9 Jan 2025

Bannister Maxwell, Bray Sarah, Aggarwal Anjali, Billington Charles, Nguyen Hai Dang

Abstract excerpt

ADP-ribosylation is a post-translational modification involving the transfer of one or more ADP-ribose units from NAD+ to target proteins. Dysregulation of ADP-ribosylation is implicated in neurodegenerative diseases. In this study, genetic testing via exome sequencing was used to identify the underlying disease in two siblings with developmental delay, seizures, progressive muscle weakness, and respiratory...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39580621
DOI: 10.1016/j.xhgg.2024.100386
PMCID: PMC11667697

Genes

ADPRS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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