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Biallelic variants in<i>DAP3</i>result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

2024-08-21

Abstract excerpt

The mitoribosome synthesizes 13 protein subunits of the oxidative phosphorylation system encoded by the mitochondrial genome. The mitoribosome is composed of 12S rRNA, 16S rRNA and 82 mitoribosomal proteins encoded by nuclear genes. To date, variants in 12 genes encoding mitoribosomal proteins are associated with rare monogenic disorders, and frequently show combined oxidative phosphorylation deficiency. Here, we...

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Literature Corpus work
a523e309-2ed6-556e-a83f-2040fa6608e1
DOI
10.1101/2024.08.19.24312079
Open publication

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Biallelic variants in<i>DAP3</i>result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotypeDOI 10.1101/2024.08.19.24312079
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