Keywords: Table 1. Alignment and variant calling were performed with an information technology, platform-specific pipeline software (Torrent Suite, version 4.2) with the plug-in “variant caller” program (Life Technologies). All authors read and approved the final manuscript. According to a prior report [11], C1QBP-deficient mice exhibited embryonic lethality. Itahana K, Zhang Y. Mitochondrial p32 is a critical mediator of ARF-induced apoptosis. (2004) 110:741–50. 1927;8:1519–1530. Koopman WJ, Willems PH, Smeitink JA. The wild type (p. Leu275) and mutation type (p. Phe275) are localized in the αC helix of the C1QBP protein. Yaplito-Lee J, Weintraub R, Jamsen K, Chow CW, Thorburn DR, Boneh A. Cardiac manifestations in oxidative phosphorylation disorders of childhood. For children with ages < 18 years, the diagnosis of HCM required a wall thickness ≥ 2 standard deviations (SD) above the predicted mean (Z-score ≥ 2) for age, gender, and body size. A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. Wu L, Cao KX, Ni ZH, Li WD, Chen ZP, Cheng HB, Liu X. J Ethnopharmacol. Therefore, the C1QBP- p.Leu275Phe variant functional studies, muscular enzymology and histological/histochemical experiments were not performed. Cell viability and intracellular ATP levels in SMMC-7721/DOX cells were significantly reduced by rotenone and oligomycin, inhibitors of oxidative phosphorylation. Oxidative phosphorylation is a metabolic pathway through which cells release the energy stored in carbohydrates, fats, and proteins to produce adenosine triphosphate , the main source of energy for intracellular reactions. Up to now, only six cases were reported with the mutations in the C1QBP gene in an autosomal recessive pattern. Feichtinger et al. C, PPI network analysis of DEPs involved in oxidative phosphorylation by STRING database. Purpose: Chemotherapy treatment of metastatic colon cancer ultimately fails due to development of drug resistance. HCM is one of the most common and important of cardiac phenotype associated with mitochondrial respiratory disorders (16, 17). (C,c) Mutation type, F275 is shown in red color. Mouse liver mitochondria were isolated as described previously (21) , and state III O 2 consumption driven by specific respiratory chain complexes was measured on 75–100 μg of mitochondrial protein … In order for oxidative phosphorylation to proceed, two principal conditions must be met. Long noncoding RNA and mRNA profiling in cetuximab-resistant colorectal cancer cells by RNA sequencing analysis. Figure 1. Family pedigree. YZ, JW, HL, and MS: methodology. YY, BL, FL, and WH: validation. doi: 10.1073/pnas.96.7.3572, 9. He had a blood pressure of 100/58 mmHg with a regular pulse rate at 86 beats per min (bmp). Drug resistance; Energy metabolism; Hepatocellular carcinoma; Mechanism; α-ketoglutaric acid. Whole exome were captured (SureSelect Human All Exon V6, Agilent, USA) and sequenced on Illumina Nova Seq sequencing platform (Nova seq 6,000, Illumina, USA).
The study was approved by the ethics committee of Xi'an Children's Hospital, the affiliated Children's Hospital of Xi'an Jiaotong University in China. Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, et al. Key Difference – Oxidative phosphorylation vs Photophosphorylation. Physical examination revealed the boy is 132.5 cm tall and weighs 24.5 kg, slack skins, upturned nose, and ptosis (with an ~50% coverage of the cornea). p32/gC1qR is indispensable for fetal development and mitochondrial translation: importance of its RNA-binding ability. 2019 Apr;8(4):1641-1651. doi: 10.1002/cam4.2004.
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