| Maternally inherited non-syndromic hearing loss is linked with a novel mitochondrial ND6 gene mutation. | Maternally inherited non-syndromic hearing loss is linked with a novel mitochondrial ND6 gene mutation.
Zhang T, Su R, Xiang W, Wang W. | 03/26/2024 |
| Reduced mitochondrial-encoded NADH dehydrogenase 6 gene expression drives inflammatory CD4[+]T cells in patients with systemic lupus erythematosus. | Reduced mitochondrial-encoded NADH dehydrogenase 6 gene expression drives inflammatory CD4(+)T cells in patients with systemic lupus erythematosus.
Abdukiyum M, Tang X, Zhao N, Cui Y, Zhang J, Alim T, Zheng Y, Li W, Huang M, Feng X, Yu H, Feng X. | 02/22/2024 |
| Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation. | Optimized allotopic expression of mitochondrial ND6 transgene restored complex I and apoptosis deficiencies caused by LHON-linked ND6 14484T > C mutation.
Wang J, Ji Y, Ai C, Chen JR, Gan D, Zhang J, Mo JQ, Guan MX., Free PMC Article | 08/7/2023 |
| Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy. | Leber's hereditary optic neuropathy-associated ND6 14484T > C mutation caused pleiotropic effects on the complex I, RNA homeostasis, apoptosis and mitophagy.
Liang M, Ji Y, Zhang L, Wang X, Hu C, Zhang J, Zhu Y, Mo JQ, Guan MX. | 10/15/2022 |
| Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene. | Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene.
Vandeputte J, Van Heetvelde M, Van Cauwenbergh C, Seneca S, De Baere E, Leroy BP, De Zaeytijd J. | 01/29/2022 |
| Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes. | Impact of Mitochondrial Genetic Variants in ND1, ND2, ND5, and ND6 Genes on Sperm Motility and Intracytoplasmic Sperm Injection (ICSI) Outcomes.
Al Smadi MA, Hammadeh ME, Solomayer E, Batiha O, Altalib MM, Jahmani MY, Shboul MA, Nusair B, Amor H., Free PMC Article | 01/29/2022 |
| Hypermethylation of Hepatic Mitochondrial ND6 Provokes Systemic Insulin Resistance. | Hypermethylation of Hepatic Mitochondrial ND6 Provokes Systemic Insulin Resistance.
Cao K, Lv W, Wang X, Dong S, Liu X, Yang T, Xu J, Zeng M, Zou X, Zhao D, Ma Q, Lin M, Long J, Zang W, Gao F, Feng Z, Liu J., Free PMC Article | 12/25/2021 |
| Circulating mitochondrial N-formyl peptides contribute to secondary nosocomial infection in patients with septic shock. | Circulating mitochondrial N-formyl peptides contribute to secondary nosocomial infection in patients with septic shock.
Kwon WY, Suh GJ, Jung YS, Park SM, Oh S, Kim SH, Lee AR, Kim JY, Kim H, Kim KA, Kim Y, Kim BC, Kim T, Kim KS, Itagaki K, Hauser CJ., Free PMC Article | 12/11/2021 |
| Circulating nicotinamide adenine dinucleotide-ubiquinone oxidoreductase chain 6 is associated with disease activity of anti-neutrophil cytoplasmic antibody-associated vasculitis. | Circulating nicotinamide adenine dinucleotide-ubiquinone oxidoreductase chain 6 is associated with disease activity of anti-neutrophil cytoplasmic antibody-associated vasculitis.
Tian SL, Bai X, Xu PC, Chen T, Gao S, Hu SY, Wei L, Jia JY, Yan TK. | 07/24/2021 |
| Analysis of variants in mitochondrial genome and their putative pathogenicity in tuberculosis patients from Mizoram, North east India. | Analysis of variants in mitochondrial genome and their putative pathogenicity in tuberculosis patients from Mizoram, North east India.
Vanlalhruaii Tonsing M, Vanlalbiakdiki Sailo C, Zothansanga, Chhakchhuak L, Chhakchhuak Z, Pandit B, Kumar D, Pratim Mazumder P, Senthil Kumar N. | 04/3/2021 |
| Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features. | Long-term screening for primary mitochondrial DNA variants associated with Leber hereditary optic neuropathy: incidence, penetrance and clinical features.
Marotta R, Chin J, Chiotis M, Shuey N, Collins SJ. | 04/3/2021 |
| 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. | Leber's hereditary optic neuropathy (LHON) in an Apulian cohort of subjects.
Bianco A, Bisceglia L, Trerotoli P, Russo L, D'Agruma L, Guerriero S, Petruzzella V., Free PMC Article | 10/27/2018 |
| Study identify a significant down-expression of MT-ND6 in men with Klinefelter syndrome. | Next Generation Sequencing expression profiling of mitochondrial subunits in men with Klinefelter syndrome.
Salemi M, Cimino L, Marino M, Cannarella R, Condorelli RA, Romano C, La Vignera S, Calogero AE., Free PMC Article | 08/18/2018 |
| The molecular diagnostics by the whole exome sequencing showed a novel de novo (c.1374-2A>C) mutation in the KRT10 gene responsible for the development of IWC (KRT10 defect was confirmed by immunofluorescent study). Concurrently, the m.14484T>C mutation in mitochondrial MTND6 gene (characteristic for Leber's hereditary optic neuropathy or LHON) was detected in patient, his mother and brother | Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy.
Kalinska-Bienias A, Pollak A, Kowalewski C, Lechowicz U, Stawinski P, Gergont A, Kosinska J, Pronicka E, Kowalski P, Wozniak K, Ploski R. | 06/9/2018 |
| 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. | Frequency of primary mutations of Leber's hereditary optic neuropathy patients in North Indian population.
Mishra A, Devi S, Saxena R, Gupta N, Kabra M, Chowdhury MR., Free PMC Article | 12/23/2017 |
| 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 | Mitochondrial genetics and therapeutic overview of Leber's hereditary optic neuropathy.
Manickam AH, Michael MJ, Ramasamy S., Free PMC Article | 12/23/2017 |
| Protein modeling revealed loss of function mutations of ND6 and COX-II proteins in malignant vs benign tumors | Mitochondria and tumors: a new perspective.
Chintha R, Kaipa PR, Sekhar N, Hasan Q. | 03/22/2014 |
| Liver MT-ND6 transcriptional activity and protein expression were decreased in nonalcoholic steatohepatitis, suggesting that the expression of this mitochondrial gene may play an important role in the disease progression. | Epigenetic modification of liver mitochondrial DNA is associated with histological severity of nonalcoholic fatty liver disease.
Pirola CJ, Gianotti TF, Burgueño AL, Rey-Funes M, Loidl CF, Mallardi P, Martino JS, Castaño GO, Sookoian S. | 01/4/2014 |
| This study shows that m.14484T>C arose independently in a different mtDNA haplogroup and ethnic background in India, which may influence the clinical expression of the disease. | Haplogroup heterogeneity of LHON patients carrying the m.14484T>C mutation in India.
Khan NA, Govindaraj P, Soumittra N, Srilekha S, Ambika S, Vanniarajan A, Meena AK, Uppin MS, Sundaram C, Taly AB, Bindu PS, Gayathri N, Thangaraj K. | 08/31/2013 |
| Point mutations m.10191T>C in mitochondrial ND3 gene, m.13513G>A in ND5 gene and m.14,453G>A in ND6 gene were detected in three Chinese children with Leigh synrome dur to complex I deficiency. | Mitochondrial respiratory chain enzyme assay and DNA analysis in peripheral blood leukocytes for the etiological study of Chinese children with Leigh syndrome due to complex I deficiency.
Ma YY, Wu TF, Liu YP, Wang Q, Li XY, Zhang Y, Song JQ, Wang YJ, Yang YL. | 06/29/2013 |
| These results suggest that a different set of LHON-causing mutations is present in the South Indian population than in the European population | Reduced frequency of known mutations in a cohort of LHON patients from India.
Sundaresan P, Kumar SM, Thompson S, Fingert JH. | 01/22/2011 |
| These data suggested that the ND6 T14502C variant may modulate the phenotypic manifestation of the G11778A mutation in these Chinese pedigrees. | Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families.
Zhang J, Zhou X, Zhou J, Li C, Zhao F, Wang Y, Meng Y, Wang J, Yuan M, Cai W, Tong Y, Sun YH, Yang L, Qu J, Guan MX. | 10/23/2010 |
| the G14459A mutation is a candidate mutation for maternally inherited dystonia | Pediatric-onset dystonia associated with bilateral striatal necrosis and G14459A mutation in a Korean family: a case report.
Kim IS, Ki CS, Park KJ., Free PMC Article | 05/3/2010 |
| missense mutation 14487T>C resulted in severe encephalopathies ranging from infantile Leigh syndrome to adult-onset progressive myoclonic epilepsy with dystonia in a five-generation family | Progressive myoclonic epilepsy as an adult-onset manifestation of Leigh syndrome due to m.14487T>C.
Dermaut B, Seneca S, Dom L, Smets K, Ceulemans L, Smet J, De Paepe B, Tousseyn S, Weckhuysen S, Gewillig M, Pals P, Parizel P, De Bleecker JL, Boon P, De Meirleir L, De Jonghe P, Van Coster R, Van Paesschen W, Santens P. | 01/21/2010 |
| Molecular analysis has led to identification of the known T14502C mutation in ND6 gene in Chinese families with Leber's hereditary optic neuropathy. | Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.
Zhao F, Guan M, Zhou X, Yuan M, Liang M, Liu Q, Liu Y, Zhang Y, Yang L, Tong Y, Wei QP, Sun YH, Qu J, Guan MX., Free PMC Article | 01/21/2010 |