Title : Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination.

Pub. Date : 2018 Feb

PMID : 28594066






1 Functional Relationships(s)
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1 Exogenous expression of wild-type PNPT1, but not mutants, rescued ATP production in patient skin fibroblasts, suggesting the pathogenicity of the identified mutations. Adenosine Triphosphate polyribonucleotide nucleotidyltransferase 1 Homo sapiens