Work

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

Year: 2024

Type: article

Abstract: mutant additionally fails to localize to the nucleus, which further resulted in accumulated mono-ADP ribosylated species in cells. The children's clinical course combined with the biochemical characterization of their genetic variant develops our understanding of the pathogenic mechanisms driving CONDSIAS and highlights a critical role for ARH3-regulated ADP-ribosylation in nervous system integrity.

Source: Human Genetics and Genomics Advances

DOI: 10.1016/j.xhgg.2024.100386

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

Institutions: University of Minnesota, Johns Hopkins University, Johns Hopkins Medicine, Masonic Cancer Center, Fairview Health Services

Language: English

Topic: Genetic Neurodegenerative Diseases

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $3,300