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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation deficiency 52"
Page 1
Strength training and aerobic exercise training for muscle disease.
Voet NB, van der Kooi EL, van Engelen BG, Geurts AC. Voet NB, et al. Cochrane Database Syst Rev. 2019 Dec 6;12(12):CD003907. doi: 10.1002/14651858.CD003907.pub5. Cochrane Database Syst Rev. 2019. PMID: 31808555 Free PMC article.
MAIN RESULTS: We included 14 trials of aerobic exercise, strength training, or both, with an exercise duration of eight to 52 weeks, which included 428 participants with facioscapulohumeral muscular dystrophy (FSHD), dermatomyositis, polymyositis, mitochondrial myop …
MAIN RESULTS: We included 14 trials of aerobic exercise, strength training, or both, with an exercise duration of eight to 52 weeks, …
Role of dichloroacetate in the treatment of genetic mitochondrial diseases.
Stacpoole PW, Kurtz TL, Han Z, Langaee T. Stacpoole PW, et al. Adv Drug Deliv Rev. 2008 Oct-Nov;60(13-14):1478-87. doi: 10.1016/j.addr.2008.02.014. Epub 2008 Jul 4. Adv Drug Deliv Rev. 2008. PMID: 18647626 Free PMC article. Review.
Dichloroacetate (DCA) is an investigational drug for the treatment of genetic mitochondrial diseases. Its primary site of action is the pyruvate dehydrogenase (PDH) complex, which it stimulates by altering its phosphorylation state and stability. ...Polymorph …
Dichloroacetate (DCA) is an investigational drug for the treatment of genetic mitochondrial diseases. Its primary site of acti …
Promising Role of Melatonin as Neuroprotectant in Neurodegenerative Pathology.
Joshi N, Biswas J, Nath C, Singh S. Joshi N, et al. Mol Neurobiol. 2015 Aug;52(1):330-40. doi: 10.1007/s12035-014-8865-8. Epub 2014 Aug 27. Mol Neurobiol. 2015. PMID: 25159482 Review.
Therefore, findings have suggested its future use in combination therapies for neurological diseases. Several studies have showed its free radical scavenging, antioxidant property, antiapoptotic activity, and its action towards enhanced mitochondrial function …
Therefore, findings have suggested its future use in combination therapies for neurological diseases. Several studies have sho …
Effect of Combined Endurance Training and MitoQ on Cardiac Function and Serum Level of Antioxidants, NO, miR-126, and miR-27a in Hypertensive Individuals.
Masoumi-Ardakani Y, Najafipour H, Nasri HR, Aminizadeh S, Jafari S, Moflehi D. Masoumi-Ardakani Y, et al. Biomed Res Int. 2022 Jan 13;2022:8720661. doi: 10.1155/2022/8720661. eCollection 2022. Biomed Res Int. 2022. PMID: 35071600 Free PMC article. Clinical Trial.
METHODS: In a double-blind randomized clinical trial, 52 male participants (age 40-55 years) were randomly divided into four groups (n = 13) of placebo, MitoQ (20 mg/day, oral), ET (cycle ergometer, moderate intensity, 40-60% VO(2) peak, heart r …
METHODS: In a double-blind randomized clinical trial, 52 male participants (age 40-55 years) were randomly …
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment.
Mühlhausen C, Salomons GS, Lukacs Z, Struys EA, van der Knaap MS, Ullrich K, Santer R. Mühlhausen C, et al. J Inherit Metab Dis. 2014 Sep;37(5):775-81. doi: 10.1007/s10545-014-9702-y. Epub 2014 Apr 1. J Inherit Metab Dis. 2014. PMID: 24687295
Combined D,L-2-hydroxyglutaric aciduria (DL-2HGA; OMIM #615182) is a rare neurometabolic disorder clinically characterized by muscular hypotonia, severe neurodevelopmental dysfunction, and intractable seizures associated with respiratory distress. ...CIC mediates efflux of …
Combined D,L-2-hydroxyglutaric aciduria (DL-2HGA; OMIM #615182) is a rare neurometabolic disorder clinically characterized by muscula …
A combined nucleic acid and protein analysis in Friedreich ataxia: implications for diagnosis, pathogenesis and clinical trial design.
Saccà F, Puorro G, Antenora A, Marsili A, Denaro A, Piro R, Sorrentino P, Pane C, Tessa A, Brescia Morra V, Cocozza S, De Michele G, Santorelli FM, Filla A. Saccà F, et al. PLoS One. 2011 Mar 11;6(3):e17627. doi: 10.1371/journal.pone.0017627. PLoS One. 2011. PMID: 21412413 Free PMC article.
Messenger RNA expression was reduced to 19.4% in cFA, 50.4% in LOFA, 52.7% in pFA, 53.0% in carriers, as compared to controls (p<0.0001). mRNA levels proved to be diagnostic when comparing cFA with controls resulting in 100% sensitivity and specificity. ...CONCLUSION/SI …
Messenger RNA expression was reduced to 19.4% in cFA, 50.4% in LOFA, 52.7% in pFA, 53.0% in carriers, as compared to controls (p<0 …
MELAS and macroangiopathy: A case report and literature review.
Sun X, Jiang G, Ju X, Fu H. Sun X, et al. Medicine (Baltimore). 2018 Dec;97(52):e13866. doi: 10.1097/MD.0000000000013866. Medicine (Baltimore). 2018. PMID: 30593190 Free PMC article.
RATIONALE: Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are thought to be rarely accompanied by macroangiopathy. ...There is correlation between the affected vessels and the lesions in some cases, but not in others, which may increase the …
RATIONALE: Mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are thought to be rarely accompanied by mac …
Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study.
Biousse V, Newman NJ, Yu-Wai-Man P, Carelli V, Moster ML, Vignal-Clermont C, Klopstock T, Sadun AA, Sergott RC, Hage R, Esposti S, La Morgia C, Priglinger C, Karanja R, Blouin L, Taiel M, Sahel JA; LHON Study Group. Biousse V, et al. J Neuroophthalmol. 2021 Sep 1;41(3):309-315. doi: 10.1097/WNO.0000000000001367. J Neuroophthalmol. 2021. PMID: 34415265 Free PMC article. Clinical Trial.
METHODS: In RESCUE and REVERSE, 76 subjects with LHON because of the m.11778 G>A mutation in the mitochondrial gene ND4 received a single unilateral intravitreal injection of lenadogene nolparvovec. ...RESULTS: The population of MT-ND4 subjects enrolled in RESTORE was r …
METHODS: In RESCUE and REVERSE, 76 subjects with LHON because of the m.11778 G>A mutation in the mitochondrial gene ND4 received a …
Hypothyroidism and levothyroxine-responsive liver dysfunction in a patient with ring chromosome 18 syndrome.
Ohkubo K, Ihara K, Ohga S, Ishimura M, Hara T. Ohkubo K, et al. Thyroid. 2012 Oct;22(10):1080-3. doi: 10.1089/thy.2011.0521. Epub 2012 Sep 4. Thyroid. 2012. PMID: 22947348 Free PMC article.
SUMMARY: Here, we report a 2-year-old male child with r(18) syndrome and a selective IgA deficiency (<1.6 mg/dL, reference range [rr]: 20-149), who developed hypothyroidism and liver dysfunction. ...While the former combination has been described, the latter has …
SUMMARY: Here, we report a 2-year-old male child with r(18) syndrome and a selective IgA deficiency (<1.6 mg/dL, reference range [ …
High insulin combined with essential amino acids stimulates skeletal muscle mitochondrial protein synthesis while decreasing insulin sensitivity in healthy humans.
Robinson MM, Soop M, Sohn TS, Morse DM, Schimke JM, Klaus KA, Nair KS. Robinson MM, et al. J Clin Endocrinol Metab. 2014 Dec;99(12):E2574-83. doi: 10.1210/jc.2014-2736. J Clin Endocrinol Metab. 2014. PMID: 25222757 Free PMC article.
CONTEXT: Insulin and essential amino acids (EAAs) regulate skeletal muscle protein synthesis, yet their independent effects on mitochondrial protein synthesis (MiPS) and oxidative function remain to be clearly defined. ...Study groups comprised (1) low and high insu …
CONTEXT: Insulin and essential amino acids (EAAs) regulate skeletal muscle protein synthesis, yet their independent effects on mitochondr …
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