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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation defect type 9"
Page 1
Pathogenicity Analysis of a Novel Variant in GTPBP3 Causing Mitochondrial Disease and Systematic Literature Review.
Zhang Q, Ouyang Q, Xiang J, Li H, Lv H, An Y. Zhang Q, et al. Genes (Basel). 2023 Feb 22;14(3):552. doi: 10.3390/genes14030552. Genes (Basel). 2023. PMID: 36980825 Free PMC article.
Defect of GTPBP3, the human mitochondrial tRNA-modifying enzyme, can lead to Combined Oxidative Phosphorylation Deficiency 23 (COXPD23). ...Clinical classification of COXPD23 for the two types, severe and mild, was well described in this study. We o …
Defect of GTPBP3, the human mitochondrial tRNA-modifying enzyme, can lead to Combined Oxidative Phosphorylation …
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations, lead to defective oxidative phosphorylation in Saccharomyces cerevisiae and affect mitochondrial DNA stability.
Fontanesi F, Palmieri L, Scarcia P, Lodi T, Donnini C, Limongelli A, Tiranti V, Zeviani M, Ferrero I, Viola AM. Fontanesi F, et al. Hum Mol Genet. 2004 May 1;13(9):923-34. doi: 10.1093/hmg/ddh108. Epub 2004 Mar 11. Hum Mol Genet. 2004. PMID: 15016764
However, irrespective of the absolute level of activity, the AAC2 pathogenic mutants showed a significant defect in ADP versus ATP transport compared with wild-type AAC2. In order to study whether a dominant phenotype, as in humans, could be observed, the aac …
However, irrespective of the absolute level of activity, the AAC2 pathogenic mutants showed a significant defect in ADP versus ATP tr …
A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia.
Werren EA, Srinivasan VM, Gowda VK, Pandey A, Vaish S, Kabbur AR, Nandeesh BN, Srivastava A. Werren EA, et al. Am J Med Genet A. 2023 Sep;191(9):2446-2450. doi: 10.1002/ajmg.a.63310. Epub 2023 Jun 20. Am J Med Genet A. 2023. PMID: 37337918
Combined oxidative phosphorylation deficiency type 53 (COXPD53) is an autosomal recessive neurodevelopmental disorder (NDD) caused by homozygous variants in the gene C2orf69. ...Notable clinical features of COXPD53of the proband include developmental d …
Combined oxidative phosphorylation deficiency type 53 (COXPD53) is an autosomal recessive neurodevelopmental dis …