Article

Pathological PNPase variants with altered RNA binding and degradation activity affect the phenotype of bacterial and human cell models

2024-10-03

Abstract excerpt

<h4>ABSTRACT</h4> Human PNPase (hPNPase) is an essential RNA exonuclease located in mitochondria, where it contributes to RNA import from the cytoplasm, degradation of mitochondrial RNA, and R-loop homeostasis. Biallelic mutations in the hPNPase PNPT1 gene cause different genetic diseases, ranging from hereditary hearing loss to Leigh syndrome. In this work, we used an Escherichia coli model we recently develop...

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Literature Corpus work: 4e493439-615f-5a8a-81f7-971331284af5
DOI: 10.1101/2024.10.03.616462

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