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Quoted phrase not found in phrase index: "Combined oxidative phosphorylation deficiency 54"
Page 1
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Smith TB, Rea A, Thomas HB, Thompson K, Oláhová M, Maroofian R, Zamani M, He L, Sadeghian S, Galehdari H, Lotan NS, Gilboa T, Herman KC, McCorvie TJ, Yue WW, Houlden H, Taylor RW, Newman WG, O'Keefe RT. Smith TB, et al. Eur J Hum Genet. 2023 Oct;31(10):1190-1194. doi: 10.1038/s41431-023-01437-2. Epub 2023 Aug 9. Eur J Hum Genet. 2023. PMID: 37558808 Free PMC article.
Biallelic hypomorphic variants in PRORP have been recently described as causing the autosomal recessive disorder combined oxidative phosphorylation deficiency type 54 (COXPD54). COXPD54 encompasses a phenotypic spectrum of sensorineural hearing …
Biallelic hypomorphic variants in PRORP have been recently described as causing the autosomal recessive disorder combined oxidativ …
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
Seven of the 10 cases were in men (70%), and the average age was 26 years with a wide range (2-54 years). Chorioretinal findings were very similar to this cohort. ...Newer nucleoside reverse transcriptase inhibitors may potentiate mitochondrial DNA damage and lead t …
Seven of the 10 cases were in men (70%), and the average age was 26 years with a wide range (2-54 years). Chorioretinal findings were …
Most Influential Physicochemical and In Vitro Assay Descriptors for Hepatotoxicity and Nephrotoxicity Prediction.
Rana P, Kogut S, Wen X, Akhlaghi F, Aleo MD. Rana P, et al. Chem Res Toxicol. 2020 Jul 20;33(7):1780-1790. doi: 10.1021/acs.chemrestox.0c00040. Epub 2020 May 8. Chem Res Toxicol. 2020. PMID: 32338883
In silico physicochemical property calculations and in vitro assays have been utilized separately in the early stages of the drug discovery and development process to predict drug safety. In this study, we combined physicochemical properties and in vitro cytotoxicit …
In silico physicochemical property calculations and in vitro assays have been utilized separately in the early stages of the drug discovery …
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 …
Circulating pyruvate is a potent prognostic marker for critical COVID-19 outcomes.
Ceperuelo-Mallafré V, Reverté L, Peraire J, Madeira A, Maymó-Masip E, López-Dupla M, Gutierrez-Valencia A, Ruiz-Mateos E, Buzón MJ, Jorba R, Vendrell J, Auguet T, Olona M, Vidal F, Rull A, Fernández-Veledo S. Ceperuelo-Mallafré V, et al. Front Immunol. 2022 Sep 14;13:912579. doi: 10.3389/fimmu.2022.912579. eCollection 2022. Front Immunol. 2022. PMID: 36189213 Free PMC article.
BACKGROUND: Coronavirus-19 (COVID-19) disease is driven by an unchecked immune response to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus which alters host mitochondrial-associated mechanisms. Compromised mitochondrial health results in abnor …
BACKGROUND: Coronavirus-19 (COVID-19) disease is driven by an unchecked immune response to the severe acute respiratory syndrome coronavirus …
Cognitive characteristics of mitochondrial diseases in children.
Shurtleff H, Barry D, Chanprasert S, Firman T, Warner M, Saneto RP. Shurtleff H, et al. Epilepsy Behav. 2018 Nov;88:235-243. doi: 10.1016/j.yebeh.2018.09.013. Epub 2018 Oct 11. Epilepsy Behav. 2018. PMID: 30316150
The adaptive function measure was composed of patients only with intractable epilepsy and yielded the lowest overall median summary score of 43 (IQR: 37, 50). This general trend in differences between the FSIQ scores of the groups with and without seizures was also …
The adaptive function measure was composed of patients only with intractable epilepsy and yielded the lowest overall median summary score …
Outcome of organic acidurias in China.
Yang Y, Yao Z, Song J, Hasegawa Y, Kimura M, Yamaguchi S, Jiang Y, Qin J, Wu X. Yang Y, et al. Ann Acad Med Singap. 2008 Dec;37(12 Suppl):120-3. Ann Acad Med Singap. 2008. PMID: 19904473 Free article.
Among them, 116 (116/ 168, 69.0%) had methylmalonic aciduria, 63 (54.3%) of these 116 patients had methylmalonic aciduria combined with homocysteinemia. Sixteen (9.5%) of those patients detected with organic acidurias had propionic aciduria, and 15 (8.9%) had multip …
Among them, 116 (116/ 168, 69.0%) had methylmalonic aciduria, 63 (54.3%) of these 116 patients had methylmalonic aciduria combined …
Mitochondrial Genetic Heterogeneity in Leber's Hereditary Optic Neuropathy: Original Study with Meta-Analysis.
Jha RK, Dawar C, Hasan Q, Pujar A, Gupta G, Vishnu VY, Kekunnaya R, Thangaraj K. Jha RK, et al. Genes (Basel). 2021 Aug 24;12(9):1300. doi: 10.3390/genes12091300. Genes (Basel). 2021. PMID: 34573281 Free PMC article.
We investigated the complete mitochondrial DNA (mtDNA) sequences of 189 LHON patients and found a total of 54 disease-linked pathogenic variants. ...Among 156 patients who lacked the three primary variants, 16.02% harboured other LHON-associated variants either alon …
We investigated the complete mitochondrial DNA (mtDNA) sequences of 189 LHON patients and found a total of 54 disease-linked p …
The OPA1 Gene Mutations Are Frequent in Han Chinese Patients with Suspected Optic Neuropathy.
Zhang AM, Bi R, Hu QX, Fan Y, Zhang Q, Yao YG. Zhang AM, et al. Mol Neurobiol. 2017 Apr;54(3):1622-1630. doi: 10.1007/s12035-016-9771-z. Epub 2016 Feb 11. Mol Neurobiol. 2017. PMID: 26867657
While many patients with hereditary optic neuropathies are caused by mitochondrial DNA (mtDNA) mutations of Leber's hereditary optic neuropathy (LHON), a significant proportion of them does not have mtDNA mutation and is caused by mutations in genes of the nuclear genome. …
While many patients with hereditary optic neuropathies are caused by mitochondrial DNA (mtDNA) mutations of Leber's hereditary optic …
Rate of dyslipidemia higher among women living with HIV: A comparison of metabolic and cardiovascular health in a cohort to study aging in HIV.
Russell E, Albert A, Côté H, Hsieh A, Nesbitt A, Campbell AR, Maan EJ, Brophy J, Pick N, Murray M. Russell E, et al. HIV Med. 2020 Aug;21(7):418-428. doi: 10.1111/hiv.12843. Epub 2020 Mar 13. HIV Med. 2020. PMID: 32168418 Free article.
OBJECTIVES: Combination antiretroviral therapy has largely restored the lifespan of persons living with HIV. ...Cellular aging was determined by assessing leukocyte telomere length and blood mitochondrial DNA content. Diagnoses were based on current Canadian guideli …
OBJECTIVES: Combination antiretroviral therapy has largely restored the lifespan of persons living with HIV. ...Cellular aging was de …
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