Title : Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency.

Pub. Date : 2012 Nov 2

PMID : 23084291






1 Functional Relationships(s)
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1 Finally, overexpression of the wild-type PNPT1 cDNA in fibroblasts of subject 1 induced an increase in 5S rRNA import in mitochondria and rescued the mitochondrial-translation deficiency. CHEMBL3739852 polyribonucleotide nucleotidyltransferase 1 Homo sapiens