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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation deficiency 53"
Page 1
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14.
Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, Scott L, Thomsen M, Gillies G, Pope K, Bennett MF, Munro JE, Ngo KJ, Chen L, Wallis MJ, Butler EG, Kumar KR, Wu KH, Tomlinson SE, Tisch S, Malhotra A, Lee-Archer M, Dolzhenko E, Eberle MA, Roberts LJ, Fogel BL, Brüggemann N, Lohmann K, Delatycki MB, Bahlo M, Lockhart PJ. Rafehi H, et al. Am J Hum Genet. 2023 Jan 5;110(1):105-119. doi: 10.1016/j.ajhg.2022.11.015. Epub 2022 Dec 8. Am J Hum Genet. 2023. PMID: 36493768 Free PMC article.
In a German validation cohort, 9/104 (8.7%) of affected individuals had (GAA)(>335) and a further six had (GAA)(>250), whereas 10/190 (5.3%) control subjects had (GAA)(>250) but none were (GAA)(>335). The combined data suggest (GAA)(>335) are disease causing …
In a German validation cohort, 9/104 (8.7%) of affected individuals had (GAA)(>335) and a further six had (GAA)(>250), whereas 10/190 …
Investigating mitochondrial redox state using NADH and NADPH autofluorescence.
Blacker TS, Duchen MR. Blacker TS, et al. Free Radic Biol Med. 2016 Nov;100:53-65. doi: 10.1016/j.freeradbiomed.2016.08.010. Epub 2016 Aug 9. Free Radic Biol Med. 2016. PMID: 27519271 Free PMC article. Review.
Defects in the balance of these pathways are associated with numerous diseases, from diabetes and neurodegenerative disease to heart disease and cancer. ...In this review, we outline the modern implementation of these techniques for studying mitochondrial redox stat …
Defects in the balance of these pathways are associated with numerous diseases, from diabetes and neurodegenerative disease to heart …
Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy.
Sommerville EW, Ng YS, Alston CL, Dallabona C, Gilberti M, He L, Knowles C, Chin SL, Schaefer AM, Falkous G, Murdoch D, Longman C, de Visser M, Bindoff LA, Rawles JM, Dean JCS, Petty RK, Farrugia ME, Haack TB, Prokisch H, McFarland R, Turnbull DM, Donnini C, Taylor RW, Gorman GS. Sommerville EW, et al. JAMA Neurol. 2017 Jun 1;74(6):686-694. doi: 10.1001/jamaneurol.2016.4357. JAMA Neurol. 2017. PMID: 28395030 Free PMC article.
DESIGN, SETTING, AND PARTICIPANTS: An observational case series study was conducted at a national diagnostic center for mitochondrial disease in Newcastle upon Tyne, England, and review of cases published in the literature. ...Central nervous system involvement was …
DESIGN, SETTING, AND PARTICIPANTS: An observational case series study was conducted at a national diagnostic center for mitochondr …
Recent Studies of Mitochondrial SLC25: Integration of Experimental and Computational Approaches.
Wang YJ, Khan FI, Xu Q, Wei DQ. Wang YJ, et al. Curr Protein Pept Sci. 2018;19(5):507-522. doi: 10.2174/1389203718666161108095052. Curr Protein Pept Sci. 2018. PMID: 27829346 Review.
In human, the mitochondrial carrier family has 53 members, all with a ternary structure of six transmembrane alpha-helices. ...This review aims to summarize a comprehensive introduction of recent discoveries about the biological investigations of the structure and t …
In human, the mitochondrial carrier family has 53 members, all with a ternary structure of six transmembrane alpha-helices. .. …
Mannose-binding lectin level and deficiency is not associated with inflammatory bowel diseases, disease phenotype, serology profile, and NOD2/CARD15 genotype in a large Hungarian cohort.
Papp M, Lakatos PL, Harsfalvi J, Farkas G, Palatka K, Udvardy M, Molnar T, Farkas K, Nagy F, Veres G, Lakatos L, Kovacs A, Dinya T, Kocsis AK, Papp J; Hungarian IBD Study Group; Altorjay I. Papp M, et al. Hum Immunol. 2010 Apr;71(4):407-13. doi: 10.1016/j.humimm.2010.01.012. Epub 2010 Jan 26. Hum Immunol. 2010. PMID: 20079790
TLR4 variant genotype was more common in CD patients without MBL deficiency (11% vs. 1.7%, OR: 7.29, 95% CI: 1.08-53.9, p = 0.02). We failed to confirm any association between MBL deficiency and serologic marker positivity. MBL deficiency was not pr …
TLR4 variant genotype was more common in CD patients without MBL deficiency (11% vs. 1.7%, OR: 7.29, 95% CI: 1.08-53.9, p = 0. …
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Honzik T, Tesarova M, Magner M, Mayr J, Jesina P, Vesela K, Wenchich L, Szentivanyi K, Hansikova H, Sperl W, Zeman J. Honzik T, et al. J Inherit Metab Dis. 2012 Sep;35(5):749-59. doi: 10.1007/s10545-011-9440-3. Epub 2012 Jan 10. J Inherit Metab Dis. 2012. PMID: 22231385
In this study, clinical and laboratory data were analyzed in 129 patients with neonatal onset of MD to identify any association between specific mitochondrial diseases and their symptoms with the aim of optimizing diagnosis. ...Prematurity, intrauterine growth retar …
In this study, clinical and laboratory data were analyzed in 129 patients with neonatal onset of MD to identify any association between spec …
Spinal cord atrophy correlates with disability in Friedreich's ataxia.
Chevis CF, da Silva CB, D'Abreu A, Lopes-Cendes I, Cendes F, Bergo FP, França MC Jr. Chevis CF, et al. Cerebellum. 2013 Feb;12(1):43-7. doi: 10.1007/s12311-012-0390-6. Cerebellum. 2013. PMID: 22562714
There was a significant correlation between cord areas and the FARS scores (r = -0.53, p = 0.002). Cord damage in Friedreich's ataxia results in atrophy combined with flattening. ...
There was a significant correlation between cord areas and the FARS scores (r = -0.53, p = 0.002). Cord damage in Friedreich's …
Aldehyde Dehydrogenase 2 (ALDH2) rs671 Polymorphism is a Predictor of Pulmonary Hypertension Due to Left Heart Disease.
Tang C, Shi F, Ji Y, Zhu J, Gu X. Tang C, et al. Heart Lung Circ. 2024 Feb;33(2):230-239. doi: 10.1016/j.hlc.2023.11.012. Epub 2024 Jan 4. Heart Lung Circ. 2024. PMID: 38177014 Free article.
RESULTS: The prevalence of ALDH2 rs671 GA/AA polymorphisms (variant ALDH2) was 24 of 102 patients (23.53%) in the HF without PH-LHD group, and 32 of 76 patients (42.10%) in the HF with PH-LHD group, with a statistically significant difference. ...CONCLUSIONS: Variant ALDH2 …
RESULTS: The prevalence of ALDH2 rs671 GA/AA polymorphisms (variant ALDH2) was 24 of 102 patients (23.53%) in the HF without PH-LHD g …
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. ...Structural brain defects of cerebral atrophy, cerebellar atrophy, h …
Combined oxidative phosphorylation deficiency type 53 (COXPD53) is an autosomal recessive neurodevelopmen …
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation.
Spiegel R, Saada A, Flannery PJ, Burté F, Soiferman D, Khayat M, Eisner V, Vladovski E, Taylor RW, Bindoff LA, Shaag A, Mandel H, Schuler-Furman O, Shalev SA, Elpeleg O, Yu-Wai-Man P. Spiegel R, et al. J Med Genet. 2016 Feb;53(2):127-31. doi: 10.1136/jmedgenet-2015-103361. Epub 2015 Nov 11. J Med Genet. 2016. PMID: 26561570 Free PMC article.
BACKGROUND: Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylation defects are genetically heterogeneous with defects involving both the mitochondrial and nuclear genomes. ...Mitochondrial …
BACKGROUND: Infantile-onset encephalopathy and hypertrophic cardiomyopathy caused by mitochondrial oxidative phosphorylatio …
17 results