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TARS2 Variants Cause Combination Oxidative Phosphorylation Deficiency-21: A Case Report and Literature Review.
Gao X, Xin G, Tu Y, Liang X, Yang H, Meng H, Wang Y. Gao X, et al. Neuropediatrics. 2024 Jun;55(3):178-182. doi: 10.1055/a-1949-9310. Epub 2022 Sep 23. Neuropediatrics. 2024. PMID: 36150709 Free article. Review.
OBJECTIVE: The aim of the study is to explore the clinical and genetic characteristics of the combined oxidative phosphorylation defect type 21 (COXPD21) caused by the TARS2 compound heterozygous pathogenic variants, and to improve clinicians' awareness of th …
OBJECTIVE: The aim of the study is to explore the clinical and genetic characteristics of the combined oxidative phosphoryl …
Pharmacological treatments for Friedreich ataxia.
Kearney M, Orrell RW, Fahey M, Brassington R, Pandolfo M. Kearney M, et al. Cochrane Database Syst Rev. 2016 Aug 30;2016(8):CD007791. doi: 10.1002/14651858.CD007791.pub4. Cochrane Database Syst Rev. 2016. PMID: 27572719 Free PMC article. Review.
MAIN RESULTS: We identified more than 12 studies that used antioxidants in the treatment of Friedreich ataxia, but only two small RCTs, with a combined total of 72 participants, both fulfilled the selection criteria for this review and published results. ...AUTHORS' CONCLU …
MAIN RESULTS: We identified more than 12 studies that used antioxidants in the treatment of Friedreich ataxia, but only two small RCTs, with …
Recent advances in neurometabolic diseases: The genetic role in the modern era.
Tein I. Tein I. Epilepsy Behav. 2023 Aug;145:109338. doi: 10.1016/j.yebeh.2023.109338. Epub 2023 Jul 13. Epilepsy Behav. 2023. PMID: 37453291 Review.
Depending upon the clinical phenotype, current genetic testing may include chromosomal microarray (deletion/duplication analysis), single target gene sequencing, gene panels (sequencing and deletion/duplication analysis), DNA methylation analysis, mitochondrial nuclear gen …
Depending upon the clinical phenotype, current genetic testing may include chromosomal microarray (deletion/duplication analysis), single ta …
Update on mitochondrial toxicity: where are we now?
Walker UA. Walker UA. J HIV Ther. 2003 May;8(2):32-5. J HIV Ther. 2003. PMID: 12838162 Review.
The NRTIs differ in the mechanisms, potency and probably also tissue specificity of mitochondrial toxicity. One group of NRTIs, the so-called "d-drugs" (zalcitabine> didanosine>stavudine) are relatively strong inhibitors of g-polymerase and thus cause a time- and dos …
The NRTIs differ in the mechanisms, potency and probably also tissue specificity of mitochondrial toxicity. One group of NRTIs, the s …
Nitric oxide synthases: targets for therapeutic strategies in neurological diseases.
Chabrier PE, Demerlé-Pallardy C, Auguet M. Chabrier PE, et al. Cell Mol Life Sci. 1999 Jul;55(8-9):1029-35. doi: 10.1007/s000180050353. Cell Mol Life Sci. 1999. PMID: 10442086 Review.
Glutamate excitotoxicity, oxidative stress, and mitochondrial dysfunctions are common features leading to neuronal death in cerebral ischemia, traumatic brain injury, Parkinson's disease, Huntington's disease, Alzheimer's disease and amyotrophic lateral sclerosis. . …
Glutamate excitotoxicity, oxidative stress, and mitochondrial dysfunctions are common features leading to neuronal death in ce …
[Involvement of Variants in the Genes Encoding BRCA1-Associated Genome Surveillance Complex (BASC) in the Development of Human Common Diseases].
Babushkina NP, Postrigan AE, Kucher AN. Babushkina NP, et al. Mol Biol (Mosk). 2021 Mar-Apr;55(2):318-337. doi: 10.31857/S0026898421020038. Mol Biol (Mosk). 2021. PMID: 33871445 Free article. Review. Russian.
In this hypothesis, polymorphisms in the genes of Mendelian diseases may have a significant contribution to predisposition to common diseases in which the same biochemical pathways may be involved. ...Patients with mutations in the genes of the BASC complex and pati …
In this hypothesis, polymorphisms in the genes of Mendelian diseases may have a significant contribution to predisposition to common …
Current knowledge on non-steroidal anti-inflammatory drug-induced small-bowel damage: a comprehensive review.
Watanabe T, Fujiwara Y, Chan FKL. Watanabe T, et al. J Gastroenterol. 2020 May;55(5):481-495. doi: 10.1007/s00535-019-01657-8. Epub 2019 Dec 21. J Gastroenterol. 2020. PMID: 31865463 Free PMC article. Review.
Both inhibition of prostaglandins due to the inhibition of cyclooxygenases and mitochondrial dysfunction secondary to the topical effect of NSAIDs play a crucial role in the early process of injury. ...Currently, misoprostol is the only drug that has a proven beneficial ef …
Both inhibition of prostaglandins due to the inhibition of cyclooxygenases and mitochondrial dysfunction secondary to the topical eff …
[Diagnostic approach and treatment of inherited mitochondrial fatty acid oxidation disorders].
Peña Quintana L, Sanjurjo Crespo P. Peña Quintana L, et al. An Esp Pediatr. 2001 Dec;55(6):524-34. An Esp Pediatr. 2001. PMID: 11730586 Review. Spanish.
Inherited mitochondrial fatty acid oxidation disorders are a complex set of genetically-based diseases in which up to 22 different entities are currently recognized. ...Their clinical spectrum and prognosis are variable. In recent years knowledge of these disease …
Inherited mitochondrial fatty acid oxidation disorders are a complex set of genetically-based diseases in which up to 22 diffe …