Article
Comprehensive phenotypic assessment of nonsense mutations in mitochondrial ND5 in mice.
Experimental & molecular medicine - 1 Nov 2024
Kim Sanghun, Park Seul Gi, Kim Jieun, Hong Seongho, Cho Sang-Mi, Lim Soo-Yeon, Kim Eun-Kyoung, Ju Sungjin, Lee Su Bin, Kim Sol Pin, Jeong Tae Young, Oh Yeji, Han Seunghun, Kim Hae-Rim, Lee Taek Chang, Kim Hyoung-Chin, Yoon Won Kee, An Tae Hyeon, Oh Kyoung-Jin, Nam Ki-Hoan, Lee Seonghyun, Kim Kyoungmi, Seong Je Kyung, Lee Hyunji
Abstract excerpt
Mitochondrial dysfunction induced by mitochondrial DNA (mtDNA) mutations has been implicated in various human diseases. A comprehensive analysis of mitochondrial genetic disorders requires suitable animal models for human disease studies. While gene knockout via premature stop codons is a powerful method for investigating the unique functions of target genes, achieving knockout of mtDNA has been rare. Here, we...
Topics
- Animals
- Codon, Nonsense
- Mice
- Phenotype
- Mice, Knockout
- Mitochondria
- DNA, Mitochondrial
- Disease Models, Animal
- Mitochondrial Diseases