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[A case of combined oxidative phosphorylation deficiency 32 caused by MRPS34 gene variation and literature review].
Shen MX, Ji XN, Wu F, Gao YY, Feng S, Xie LN, Zheng P, Mao YY, Chen Q. Shen MX, et al. Zhonghua Er Ke Za Zhi. 2023 Jul 2;61(7):642-647. doi: 10.3760/cma.j.cn112140-20230307-00165. Zhonghua Er Ke Za Zhi. 2023. PMID: 37385809 Review. Chinese.
Objective: To investigate the clinical features and genetic features of combined oxidative phosphorylation deficiency 32 (COXPD32) caused by MRPS34 gene variation. ...A literature search was implemented using Wanfang, China biology medicine disc, China …
Objective: To investigate the clinical features and genetic features of combined oxidative phosphorylation deficienc …
Mechanisms of distal axonal degeneration in peripheral neuropathies.
Cashman CR, Höke A. Cashman CR, et al. Neurosci Lett. 2015 Jun 2;596:33-50. doi: 10.1016/j.neulet.2015.01.048. Epub 2015 Jan 21. Neurosci Lett. 2015. PMID: 25617478 Free PMC article. Review.
Peripheral neuropathy is a common complication of a variety of diseases and treatments, including diabetes, cancer chemotherapy, and infectious causes (HIV, hepatitis C, and Campylobacter jejuni). Despite the fundamental difference between these insults, peripheral neuropa …
Peripheral neuropathy is a common complication of a variety of diseases and treatments, including diabetes, cancer chemotherapy, and …
Mitochondrial dysfunction in neurodegenerative diseases.
Schapira AH. Schapira AH. Neurochem Res. 2008 Dec;33(12):2502-9. doi: 10.1007/s11064-008-9855-x. Epub 2008 Nov 8. Neurochem Res. 2008. PMID: 18998208 Review.
Mitochondria play a pivotal role in mammalian cell metabolism, hosting a number of important biochemical pathways including oxidative phosphorylation. As might be expected from this fundamental contribution to cell function, abnormalities of mitochondrial met …
Mitochondria play a pivotal role in mammalian cell metabolism, hosting a number of important biochemical pathways including oxidative …
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 …
The effects and mechanisms of mitochondrial nutrient alpha-lipoic acid on improving age-associated mitochondrial and cognitive dysfunction: an overview.
Liu J. Liu J. Neurochem Res. 2008 Jan;33(1):194-203. doi: 10.1007/s11064-007-9403-0. Epub 2007 Jun 29. Neurochem Res. 2008. PMID: 17605107 Review.
We have identified a group of nutrients that can directly or indirectly protect mitochondria from oxidative damage and improve mitochondrial function and named them "mitochondrial nutrients". ...Therefore, administrating mitochondrial nutrients, such a …
We have identified a group of nutrients that can directly or indirectly protect mitochondria from oxidative damage and improve mit …
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting.
Lindner M, Hoffmann GF, Matern D. Lindner M, et al. J Inherit Metab Dis. 2010 Oct;33(5):521-6. doi: 10.1007/s10545-010-9076-8. Epub 2010 Apr 7. J Inherit Metab Dis. 2010. PMID: 20373143 Review.
Consequently, a significant prevalence and evidence for a clear benefit of NBS is proven for medium-chain acyl-CoA dehydrogenase deficiency (MCAD) only in countries with a high percentage of Caucasians, with very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD) …
Consequently, a significant prevalence and evidence for a clear benefit of NBS is proven for medium-chain acyl-CoA dehydrogenase deficien …
Brain magnetic resonance in the diagnostic evaluation of mitochondrial encephalopathies.
Bianchi MC, Sgandurra G, Tosetti M, Battini R, Cioni G. Bianchi MC, et al. Biosci Rep. 2007 Jun;27(1-3):69-85. doi: 10.1007/s10540-007-9046-z. Biosci Rep. 2007. PMID: 17510789 Review.
Brain MR imaging techniques are important ancillary tests in the diagnosis of a suspected mitochondrial encephalopathy since they provide details on brain structural and metabolic abnormalities. ...Regarding the functional MR techniques, only proton MRS plays an important …
Brain MR imaging techniques are important ancillary tests in the diagnosis of a suspected mitochondrial encephalopathy since they pro …
Lactate dyscrasia: a novel explanation for amyotrophic lateral sclerosis.
Vadakkadath Meethal S, Atwood CS. Vadakkadath Meethal S, et al. Neurobiol Aging. 2012 Mar;33(3):569-81. doi: 10.1016/j.neurobiolaging.2010.04.012. Epub 2010 Jun 11. Neurobiol Aging. 2012. PMID: 20541840 Review.
The molecular events leading to the dysregulation of the MNLS and the dismantling of NMJ are explained in the context of known ALS familial mutations and age-related endocrine dyscrasia. Combination drug therapies that inhibit lactate accumulation at the NMJ, enhance respi …
The molecular events leading to the dysregulation of the MNLS and the dismantling of NMJ are explained in the context of known ALS familial …
Metabolic complications of in utero maternal HIV and antiretroviral exposure in HIV-exposed infants.
Jao J, Abrams EJ. Jao J, et al. Pediatr Infect Dis J. 2014 Jul;33(7):734-40. doi: 10.1097/INF.0000000000000224. Pediatr Infect Dis J. 2014. PMID: 24378947 Free PMC article. Review.
However, some studies on the effect of combination antiretroviral therapy on small for gestational age and low birth weight outcomes in low-middle income countries show a risk for small for gestational age/low birth weight while those in the United States do not. Postnatal …
However, some studies on the effect of combination antiretroviral therapy on small for gestational age and low birth weight outcomes …
[Mitochondrial DNA deletion syndrome: a case report and literature review].
Zhu YH, Zhang QJ, Wang QJ. Zhu YH, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019 Sep;33(9):808-813. doi: 10.13201/j.issn.1001-1781.2019.09.004. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2019. PMID: 31446694 Review. Chinese.
Summary Mitochondrial DNA(mtDNA) deletion is a rare occurrence that results in defects to oxidative phosphorylation. ...Here, we report one case of a 5-year-old girl who presented with progressive deterioration of her clinical status, which included systemic …
Summary Mitochondrial DNA(mtDNA) deletion is a rare occurrence that results in defects to oxidative phosphorylation. .. …
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