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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation defect type 4"
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). ...The proportion of homozygous variants (71.4%) significantly differed from that of compound heterozygous v …
Defect of GTPBP3, the human mitochondrial tRNA-modifying enzyme, can lead to Combined Oxidative Phosphorylation …
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E. Wortmann SB, et al. Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16. Brain. 2009. PMID: 19015156
The heterogeneous group of 3-methylglutaconic aciduria type IV consists of patients with various organ involvement and mostly progressive neurological impairment in combination with 3-methylglutaconic aciduria and biochemical features of dysfunctional oxidative …
The heterogeneous group of 3-methylglutaconic aciduria type IV consists of patients with various organ involvement and mostly progres …
Cardiac manifestations in oxidative phosphorylation disorders of childhood.
Yaplito-Lee J, Weintraub R, Jamsen K, Chow CW, Thorburn DR, Boneh A. Yaplito-Lee J, et al. J Pediatr. 2007 Apr;150(4):407-11. doi: 10.1016/j.jpeds.2006.12.047. J Pediatr. 2007. PMID: 17382120
OBJECTIVE: To determine the frequency, type, and severity of cardiac involvement in pediatric patients with oxidative phosphorylation (OXPHOS) disorders. ...A change in the type of cardiomyopathy was noted on follow-up in 2 patients. Conduction and rhy …
OBJECTIVE: To determine the frequency, type, and severity of cardiac involvement in pediatric patients with oxidative phosp …
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.
Gardeitchik T, Mohamed M, Ruzzenente B, Karall D, Guerrero-Castillo S, Dalloyaux D, van den Brand M, van Kraaij S, van Asbeck E, Assouline Z, Rio M, de Lonlay P, Scholl-Buergi S, Wolthuis DFGJ, Hoischen A, Rodenburg RJ, Sperl W, Urban Z, Brandt U, Mayr JA, Wong S, de Brouwer APM, Nijtmans L, Munnich A, Rötig A, Wevers RA, Metodiev MD, Morava E. Gardeitchik T, et al. Am J Hum Genet. 2018 Apr 5;102(4):685-695. doi: 10.1016/j.ajhg.2018.02.012. Epub 2018 Mar 22. Am J Hum Genet. 2018. PMID: 29576219 Free PMC article.
Biogenesis of the mitochondrial oxidative phosphorylation system, which produces the bulk of ATP for almost all eukaryotic cells, depends on the translation of 13 mtDNA-encoded polypeptides by mitochondria-specific ribosomes in the mitochondrial matrix. ...The co …
Biogenesis of the mitochondrial oxidative phosphorylation system, which produces the bulk of ATP for almost all eukaryotic cel …
Mesenchymal stem cell transplantation for the infarcted heart: therapeutic potential for insulin resistance beyond the heart.
Hughey CC, Ma L, James FD, Bracy DP, Wang Z, Wasserman DH, Rottman JN, Hittel DS, Shearer J. Hughey CC, et al. Cardiovasc Diabetol. 2013 Sep 4;12:128. doi: 10.1186/1475-2840-12-128. Cardiovasc Diabetol. 2013. PMID: 24007410 Free PMC article.
BACKGROUND: This study aimed to evaluate the efficacy of mesenchymal stem cell (MSC) transplantation to mitigate abnormalities in cardiac-specific and systemic metabolism mediated by a combination of a myocardial infarction and diet-induced insulin resistance. ...Th …
BACKGROUND: This study aimed to evaluate the efficacy of mesenchymal stem cell (MSC) transplantation to mitigate abnormalities in car …