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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation deficiency 42"
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 …
Endogenous PP2A inhibitor CIP2A degradation by chaperone-mediated autophagy contributes to the antitumor effect of mitochondrial complex I inhibition.
Cazzoli R, Romeo F, Pallavicini I, Peri S, Romanenghi M, Pérez-Valencia JA, Hagag E, Ferrucci F, Elgendy M, Vittorio O, Pece S, Foiani M, Westermarck J, Minucci S. Cazzoli R, et al. Cell Rep. 2023 Jun 27;42(6):112616. doi: 10.1016/j.celrep.2023.112616. Epub 2023 Jun 7. Cell Rep. 2023. PMID: 37289585 Free article.
Combined inhibition of oxidative phosphorylation (OXPHOS) and glycolysis has been shown to activate a PP2A-dependent signaling pathway, leading to tumor cell death. Here, we analyze highly selective mitochondrial complex I or III inhibitors in vitro an …
Combined inhibition of oxidative phosphorylation (OXPHOS) and glycolysis has been shown to activate a PP2A-dependent si …
Clinical score for early diagnosis and treatment of stroke-like episodes in MELAS syndrome.
Naftali J, Mermelstein M, Landau YE, Barnea R, Shelly S, Auriel E, Peretz S. Naftali J, et al. Acta Neurol Belg. 2023 Jun;123(3):1019-1028. doi: 10.1007/s13760-023-02196-z. Epub 2023 Feb 15. Acta Neurol Belg. 2023. PMID: 36792807
SLE patients had significantly different features: they were younger, more commonly reported hearing loss, lower body mass index, had more commonly a combination of headache and/or seizures at presentation, serum lactate was higher, and hemiparesis was less common. An SLE …
SLE patients had significantly different features: they were younger, more commonly reported hearing loss, lower body mass index, had more c …
DIDANOSINE RETINAL TOXICITY.
Haug SJ, Wong RW, Day S, Choudhry N, Sneed S, Prasad P, Read S, McDonald RH, Agarwal A, Davis J, Sarraf D. Haug SJ, et al. Retina. 2016 Dec;36 Suppl 1:S159-S167. doi: 10.1097/IAE.0000000000001267. Retina. 2016. PMID: 28005674
Eight of the 9 patients were men, and the median age was 54 years at the time of presentation (mean: 55 years, range, 42-71 years). Snellen distance acuity ranged from 20/20 to 20/32. ...Newer nucleoside reverse transcriptase inhibitors may potentiate mitochondrial …
Eight of the 9 patients were men, and the median age was 54 years at the time of presentation (mean: 55 years, range, 42-71 years). S …
A Bayesian Network Approach for Friedreich Ataxia Severity Classification using Probability Modelling.
Dissanayake S, Krishna R, Pathirana PN, Horne MK, Szmulewicz DJ, Corben LA. Dissanayake S, et al. Annu Int Conf IEEE Eng Med Biol Soc. 2023 Jul;2023:1-4. doi: 10.1109/EMBC40787.2023.10340184. Annu Int Conf IEEE Eng Med Biol Soc. 2023. PMID: 38082810
The final model's estimates gave a 0.93 Pearson correlation with low error, 9.42 root mean square error and 7.17 mean absolute error. Predicting the clinical scales gave 94% accuracy for Upright Stability and Lower Limb Coordination and 67% accuracy for Functional S …
The final model's estimates gave a 0.93 Pearson correlation with low error, 9.42 root mean square error and 7.17 mean absolute error. …
Mitochondrial DNA variants in inclusion body myositis characterized by deep sequencing.
Hedberg-Oldfors C, Lindgren U, Basu S, Visuttijai K, Lindberg C, Falkenberg M, Larsson Lekholm E, Oldfors A. Hedberg-Oldfors C, et al. Brain Pathol. 2021 May;31(3):e12931. doi: 10.1111/bpa.12931. Brain Pathol. 2021. PMID: 33354847 Free PMC article.
Previous studies have revealed clonal expansion of large mitochondrial DNA (mtDNA) deletions in the COX-deficient muscle fibers. ...The mtDNA copy number in IBM muscle was reduced to 42% of controls. Immunohistochemical and western blot analyses of IBM muscle reveal …
Previous studies have revealed clonal expansion of large mitochondrial DNA (mtDNA) deletions in the COX-deficient muscle fibers. ...T …
Editor's Highlight: Base Excision Repair Variants and Pesticide Exposure Increase Parkinson's Disease Risk.
Sanders LH, Paul KC, Howlett EH, Lawal H, Boppana S, Bronstein JM, Ritz B, Greenamyre JT. Sanders LH, et al. Toxicol Sci. 2017 Jul 1;158(1):188-198. doi: 10.1093/toxsci/kfx086. Toxicol Sci. 2017. PMID: 28460087 Free PMC article.
We investigated the contributions of functional SNPs in 2 BER genes (APEX1 and OGG1) and mitochondrial dysfunction- or oxidative stress-related pesticide exposure, including paraquat, to PD risk. ...Ambient pesticide exposures were assessed with a geographic informa …
We investigated the contributions of functional SNPs in 2 BER genes (APEX1 and OGG1) and mitochondrial dysfunction- or oxidative …
Amino acid ratio combinations as biomarkers for discriminating patients with pyruvate dehydrogenase complex deficiency from other inborn errors of metabolism.
Verma A, Lehman AN, Gokcan H, Cropcho L, Black D, Dobrowolski SF, Vockley J, Bedoyan JK. Verma A, et al. Mol Genet Genomic Med. 2024 Jan;12(1):e2283. doi: 10.1002/mgg3.2283. Epub 2023 Sep 8. Mol Genet Genomic Med. 2024. PMID: 37688338 Free PMC article. Review.
BACKGROUND: Pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial neurometabolic disorder of energy deficit, with incidence of about 1 in 42,000 live births annually in the USA. ...Specific AA ratio combinations were significantly more se …
BACKGROUND: Pyruvate dehydrogenase complex deficiency (PDCD) is a mitochondrial neurometabolic disorder of energy deficit, wit …
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy.
van Berge L, Hamilton EM, Linnankivi T, Uziel G, Steenweg ME, Isohanni P, Wolf NI, Krägeloh-Mann I, Brautaset NJ, Andrews PI, de Jong BA, al Ghamdi M, van Wieringen WN, Tannous BA, Hulleman E, Würdinger T, van Berkel CG, Polder E, Abbink TE, Struys EA, Scheper GC, van der Knaap MS; LBSL Research Group. van Berge L, et al. Brain. 2014 Apr;137(Pt 4):1019-29. doi: 10.1093/brain/awu026. Epub 2014 Feb 24. Brain. 2014. PMID: 24566671
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is a disorder caused by recessive mutations in the gene DARS2, which encodes mitochondrial aspartyl-tRNA synthetase. Recent observations indicate that the phenotypic range of the di …
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation is a disorder caused by recessive mutations in the gene …
Biophysical Consequences of EVEN-PLUS Syndrome Mutations for the Function of Mortalin.
Moseng MA, Nix JC, Page RC. Moseng MA, et al. J Phys Chem B. 2019 Apr 25;123(16):3383-3396. doi: 10.1021/acs.jpcb.9b00071. Epub 2019 Apr 12. J Phys Chem B. 2019. PMID: 30933555 Free PMC article.
HSPA9, the gene coding for the mitochondrial chaperone mortalin, is involved in various cellular roles such as mitochondrial protein import, folding, degradation, Fe-S cluster biogenesis, mitochondrial homeostasis, and regulation of the antiapoptotic protein …
HSPA9, the gene coding for the mitochondrial chaperone mortalin, is involved in various cellular roles such as mitochondrial p …
24 results