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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation defect type 14"
Page 1
APOE genotype dependent molecular abnormalities in the cerebrovasculature of Alzheimer's disease and age-matched non-demented brains.
Ojo JO, Reed JM, Crynen G, Vallabhaneni P, Evans J, Shackleton B, Eisenbaum M, Ringland C, Edsell A, Mullan M, Crawford F, Bachmeier C. Ojo JO, et al. Mol Brain. 2021 Jul 8;14(1):110. doi: 10.1186/s13041-021-00803-9. Mol Brain. 2021. PMID: 34238312 Free PMC article.
To address this, we employed a 10-plex tandem isobaric mass tag approach in combination with an ultra-high pressure liquid chromatography MS/MS (Q-Exactive) method, to interrogate unbiased proteomic changes in cerebrovessels from AD and healthy control brains with differen …
To address this, we employed a 10-plex tandem isobaric mass tag approach in combination with an ultra-high pressure liquid chromatogr …
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