MT-ND5 Antibody

1. MT-ND5 mutation exhibits highly variable neurological manifestations. PMID: 29506874
2. Data suggest that mutations in MT-CO2 and MT-ND5 can be involved in MIDD (maternally inherited diabetes and deafness); a Tunisian family (mother, daughter, son) with clinical features of MIDD associated with retinopathy exhibit mutations in MT-CO2 (m.8241T>G - p. F219C) and MT-ND5 (m.13276G>A - p. M314V); these two mutations could explain retinopathy in some family members. (MT-CO2 = cytochrome c oxidase subunit II) PMID: 27422531
3. A MELAS/Leigh syndrome phenotype caused by a mtDNA mutation [m.13513G>A; p.Asp393Asn] in the ND5 gene encoding the ND5 subunit of respiratory chain complex I was identified in a patient in a second family PMID: 27344355
4. We describe a unique presentation Leber hereditary optic neuropathy (LHON) and mitochondrial encephalopathy, myopathy, lactic acidosis and stroke-like episodes (MELAS) overlap syndrome resulting from a m.13046T>C mutation in a 12-year-old girl. PMID: 26894521
5. FASTKD4 is required to promote expression of ND5. FASTKD4 may promote processing of ND5-CYB precursor or it may stabilize multiple mature RNAs including ND5. PMID: 28335001
6. The m.13565C>T mutation in MTND5 causes defects in both mitochondrial oxidative metabolism and mitochondrial calcium sequestration in a MELAS syndrome fibroblasts. PMID: 27110715
7. Mitochondrially encoded NADH dehydrogenase subunit, complex I extracts energy from NADH, produced by the oxidation of sugars and fats, and traps the energy in a potential difference or voltage across the mitochondrial inner membrane. PMID: 25756807
8. Study demonstrates a link between p53 and Bcl-2 proteins as regulators of ROS production and cellular invasiveness, and reveals complex-I, especially ND5, as their functional target in lung tumor cells. PMID: 25115399
9. Mitochondrial ND5 12338T>C variant is associated with maternally inherited hypertrophic cardiomyopathy in a Chinese pedigree PMID: 22759514
10. Mitochondrial DNA mutations in respiratory complex-I in never-smoker lung cancer patients contribute to lung cancer progression in association with EGFR gene mutation. PMID: 21830212
11. Several lines of evidence suggest that the mitochondrial ND5T12338C mutation is associated with Leber's hereditary optic neuropathy (LHON) in Chinese families. PMID: 21131053
12. ND4 G11696A and ND5 T12338C mutation is likely associated with Leber's hereditary optic neuropathy in two Chinese families PMID: 21482521
13. Patients with ND5*13513 G to A mutation may have a characteristic clinical course and ND5 *13513 G to A might be a preferential candidate mutation of Leigh syndrome. PMID: 21154318
14. One proband had a non-synonymous A14062G mutation in the ND5 gene. PMID: 12031626
15. This study conclude that the G13513A mutation causes a complex I defect when present at unusually low mutant load and may act dominantly. PMID: 14520659
16. A 13513G->A transition in ND5 was identified in a 4-year-old Italian boy atypical Leigh syndrome patient PMID: 14557590
17. The expression of MTND5 was studied in blood platelets during aging. There was increased genetic transcription. PMID: 14759509
18. Heteroplasmic mutations largely segregate PD from controls and may be of major pathogenic importance in idiopathic Parkinson disease. PMID: 15596151
19. In cholera, ND5 is upregulated in the mucosa of the small intestine, which correlates with the virulence of Vibrio cholerae. PMID: 15946665
20. we describe the clinical and genetic characterization of a new LHON mtDNA mutation. The 12848T mutation alters a highly conserved amino acid in the ND5 complex I gene. PMID: 16240359
21. Secondary structure analysis of the ND5 protein further supported the deleterious role of the 12706C mutation PMID: 17317336
22. Complete screening of the mitochondrial genome of 116 patients detected 4 families with an ND5 mutation (including a new m.13511AT mutation), accounting for 27% of the total number of mtDNA gene mutations. PMID: 17400793
23. MT-ND5 gene variation is significantly associated with brain mitochondrial respiratory function in Tibet chicken embryos under hypoxia. PMID: 17614984
24. In contrast to results reported for PD frontal cortex, low-level ND5 mutations between codons 120 and 150 do not accumulate severely in biochemically affected skeletal muscle samples of Parkinson's patients. PMID: 17702497
25. ND5 gene is implicated in mitochondrial dysfunction in schizophrenia. PMID: 17898419
26. Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption PMID: 17940288
27. identified the nt13708A variant as a susceptibility allele to multiple sclerosis PMID: 18270557
28. The G13513A mutation is a common cause of MELAS and LS, even in the absence of obvious maternal inheritance, pathological findings in muscle, or severe complex I deficiency. PMID: 18332249
29. We describe a patient with isolated exercise intolerance caused by a new, maternally inherited mutation in heteroplasmic T>C transition at position 13271 in MTND5. PMID: 18396045
30. 13513G>A mutation in the ND5 is associated with Leigh or Leigh-like disease. PMID: 18495510
31. We suggest that mtDNA G13513A mutation is an important factor in patients with Leigh syndrome associated with WPW syndrome and/or optic atrophy. PMID: 19054921
32. article describes 2 mitochondrial DNA mutations in the ND3 and ND5 genes in patients showing clinical features of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes PMID: 19617458

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HGNC: 7461

OMIM: 252010

KEGG: hsa:4540

STRING: 9606.ENSP00000354813