MT-ND1 Antibody

1. Our study suggests to include haplogroup T as a possible genetic background influencing LHON penetrance and to consider the increase of mtDNA copy number as a protective factor from vision loss regardless the hetero/homoplasmic status of LHON primary mutations. PMID: 29774306
2. the abnormal stable complex of FUS-R521C/PRMT1/Nd1-L mRNA could contribute to neurodegeneration upon oxidative stress. PMID: 28094300
3. This review focuses on the role of mitochondrial genes in causing LHON and therapeutics available for treating the disease. A systematic search has been adopted in various databases using the keywords "LHON," "mitochondria," "ND1," "ND4," "ND6," and "therapy" and the following review on mitochondrial genetics. PMID: 29133631
4. In this study, 27.5% mutation was detected in North Indian LHON families. These results suggest that m.G11778A mutation is more frequent in this population. The results of the present study are compatible with studies of an Asian population and Northern European population. PMID: 29133642
5. The MT-ND1 m.3635G>A mutation has resulted in decreased efficiency of ATP synthesis. PMID: 27984598
6. the MT-ND1 gene is a hot spot for mutations associated with LHON. PMID: 27177320
7. The present systematic review and meta-analysis suggest that mtDNA T4216C variation is a contributory factor in susceptibility to Multiple Sclerosis PMID: 27457485
8. ND1 genetic polymorphisms associated with breast cancer in Mizoram mongloid population. PMID: 25896597
9. The m.3472T>C substitution in mtDNA could be associated with risk of Leber's hereditary optic neuropathy. It was also found that this mutation led to dysfunction of respiratory chain complex I and decreased membrane potential, but reactive oxygen species level in the cells was within normal range PMID: 27449621
10. The present study revealed no association between MS and T4216C variation in the ND1 mtDNA gene in the Iranian population. PMID: 26201854
11. The present analysis reveals a high number (358) of mtDNA alterations and a significant decrease in complex I activity in the FTLD population. PMID: 25871488
12. MT-NDA1 new genetic mutation was found in patients with multiple congenital cardiac abnormalities. PMID: 25626582
13. respiratory deficiency caused by the m.3635G>A mutation results in decreased efficiency of mitochondrial ATP synthesis; these mitochondrial dysfunctions caused an increase in production of reactive oxygen species in the mutant cybrids; data provide direct evidence for the m.3635G>A mutation leading to Leber's hereditary optic neuropathy PMID: 25194554
14. ND1 T3866C mutation is associated with Chinese families with Leber's hereditary optic neuropathy. PMID: 25863085
15. To investigate the pathophysiology of Leber's hereditary optic neuropathy (LHON), a cohort of 1164 Han Chinese subjects with LHON were screened for ND1 G3460A mutation. PMID: 24430572
16. These results demonstrate that the energetic impairment caused by the almost homoplasmic m.3571insC mutation perturbs cellular metabolism leading to a decreased steady state level of components of very important mitochondrial NAD-dependent dehydrogenases. PMID: 24643264
17. m.3460G>A/MT-ND1 mutation caused only a reduction in mitochondrial complex I(CI) activity, whereas the m.3571insC/MT-ND1 and the m.3243A>G/MT-TL1 mutations induced a severe structural and functional CI alteration. PMID: 24163135
18. Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS. PMID: 23834081
19. In Sherpa people, 2 mutations are ND1 mutants. One of them was reported as the primary mutation for Leber's hereditary optic neuropathy suggesting a certain effect on Complex I function and might be important in the altitude adaptation for Sherpa people. PMID: 24002810
20. we describe here a heteroplasmic mutation in the MT-ND1 gene that strongly suggest to cause epileptic encephalopathy: West syndrome (WS) patient with unidentified etiology that evolved to Lennox-Gastaut syndrome. PMID: 24105702
21. A statistically significant association of the T4216C mutation in ND1 (p < 0.05) between patients suffering recurrent pregnancy loss and controls, which are 30% and 11%, respectively. PMID: 23464625
22. BRN2 is a higher level regulator than ASCL1 and ND1 and BRN2 might be involved in aggressiveness of small cell lung cancer. PMID: 23530560
23. These data suggest that the four early Complex I assembly factors have non-redundant functions in the assembly of a module that docks and stabilizes newly synthesized ND1. PMID: 22653752
24. Studies indicate that NADH dehydrogenase subunit 1 (ND1) nucleotide 3394 T > C (Y30H) has been associated with Leber hereditary optic neuropathy and it reduces complex I activity and cellular respiration. PMID: 22517755
25. Novel ND1 mutations responsible for maternally inherited nonsyndromic hearing loss PMID: 22241583
26. In all, m.3376G>A perturbs ubiquinone binding, a phenomenon found in LHON, and decreases the activity of fully assembled complex I as in MELAS. PMID: 22079202
27. the antitumorigenic and antimetastatic effects of high loads of MTND1 m.3571insC, following tumors complex I disassembly, define a novel threshold-regulated class of cancer genes PMID: 21852384
28. It is concluded that left ventricular hypertrabeculation/noncompaction may be associated with the known homoplasmic m.3308T>C mutation in the ND1 gene. PMID: 21625124
29. Three mutations in the Mitochondrial Subunit ND1 gene from primary colorectal tumour tissues were likely to alter the structure and function of the ND1 protein PMID: 21329181
30. these results suggest that the MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with suspected LHON lacking the common primary mutations. PMID: 20643099
31. Substitutions of a highly conserved Met31 in ND1 caused by rare mitochondrial single nucleotide polymorphisms (mtSNP) A3397G and T3398C were identified from two left ventricular noncompaction patients. PMID: 20211276
32. NADH dehydrogenase domain activity of NDH-1 with either one or both mutations was markedly decreased suggesting that m.4216T>C and m.3866T>C may have an effect on the structural integrity of complex I. PMID: 20197120
33. The 3316 G-->A mutation in mitochondrial ND1 gene might be related to the down-regulated expression of mitochondrial protein and the diabetes mellitus pathogenesis. PMID: 20137661
34. T3866C mutation in ND1 is associated with Leber's hereditary optic neuropathy and limbs abnormity claudication. PMID: 20176558
35. After adjustment for full-thickness burn size, inhalation injury, age, and sex, carriage of the ND1 4216C allele was associated with complicated sepsis, relative to carriers of the T allele. PMID: 19487983
36. Novel mitochondrial DNA mutations in Parkinson's disease. we report novel homoplasmic base changes. We were unable to detect heteroplasmic base changes. PMID: 12111463
37. presence of the A3796G mutation increases the risk of developing adult-onset dystonia. PMID: 12756609
38. The expression of MTDN1 was studied in blood platelets during aging. There was increased genetic transcription. PMID: 14759509
39. Both mRNA and protein levels of the 24-kDa and 51-kDa subunits of complex I were significantly decreased in the prefrontal cortex, but increased in the ventral parietooccipital cortices of schizophrenia patients compared with normal control subjects. PMID: 15038995
40. three novel mutations causing MELAS syndrome PMID: 15466014
41. A novel mitochondrial DNA (mtDNA) transition (3733G-->A) inducing the E143 K amino acid change at a very conserved site of the ND1 was identified in a family with six maternally related individuals with Leber's hereditary optic neuropathy (LHON) PMID: 15505787
42. This study has found alterations in two AD patients: one had two already known mtDNA modifications (3197 T-C and 3338 T-C) and the other a novel transition (3199 T-C). PMID: 15860916
43. The mutations G3460A and G11778A in the mitochondrial genes MTND1 and MTND4, known to be causative for LHON. PMID: 16137960
44. results suggest that the mutations of T3394C and A14693G may contribute to genetic predisposition to type 2 diabetes mellitus, with the T16189C variant being associated with insulin resistance PMID: 16414144
45. mtDNA C3310T mutation in NADH dehydrogenase 1 may be a pathogenic mutation of maternally inherited type 2 diabetes mellitus and hypertrophic cardiomyopathy in the proband and the family. PMID: 16828917
46. Therefore, the tRNA(Glu) A14693G mutation may have a potential modifier role in the phenotypic manifestation of the primary LHON-associated G3460A mutation in this Chinese family. PMID: 17434142
47. Mutation in ND1 protein is associated with non-arteritic anterior ischemic optic neuropathy PMID: 17454741
48. the 3697G>A/ND1 mitochondrial DNA mutation causes the LHON and spastic dystonia phenotype in the same family PMID: 17562939
49. suggested the involvement of other modifier factors in the pathogenesis of hypertension associated with this ND1 T3308C mutation PMID: 18194667
50. The cause of the observed association between resting metabolic rate and the ND1 polymorphism is not related to in vitro mitochondrial function. PMID: 18239645

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HGNC: 7455

OMIM: 125853

KEGG: hsa:4535

STRING: 9606.ENSP00000354687