Heterozygous p.y955c mutation in dna polymerase γ leads to alterations in bioenergetics, complex i subunit expression, and mtdna replication

HIGHLIGHTS

• who: Md. Mostafijur Rahman from the (UNIVERSITY) have published the Article: Heterozygous p.Y955C mutation in DNA polymerase u03b3 leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication, in the Journal: (JOURNAL) of January/23,/2022
• what: The authors show complex I NDUFB8 and ND3 protein levels were decreased in the mutant cell line, and the maintenance of mtDNA was severely impaired (i.e., lower copy number, fewer nucleoids, and an accumulation of Y955Cspecific replication intermediates). The authors show the mutant cells have increased sensitivity to the mitochondrial toxicant 20 -30 -dideoxycytidine . . .
  

   

  

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