{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMT‐ND3 encodes one of the seven mitochondrially encoded subunits of Complex I (NADH:ubiquinone oxidoreductase), the largest enzyme complex in the electron transport chain. This subunit plays a critical role in the initiation of electron transfer and in maintaining mitochondrial bioenergetics while also influencing the generation of reactive oxygen species. In addition, its messenger RNA is subject to tight post‐transcriptional regulation by proteins such as those in the FASTK family, highlighting a layer of control necessary for normal complex I assembly and function."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMutations and common polymorphisms in MT‐ND3 – most notably the G10398A variant among others – have been implicated in altering Complex I structure and function. Such alterations are associated with increased reactive oxygen species production and diminished energy metabolism, thereby contributing to a broad spectrum of clinical conditions including neurodegenerative disorders (for example, Parkinson’s disease, Leigh syndrome, dystonia and optic neuropathy), various cancers (such as breast, prostate, gastric and colorectal malignancies), and metabolic diseases like type 2 diabetes. In several studies, these MT‐ND3 variants modulate disease risk and even influence brain morphology and responses to therapeutic agents."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "20"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn clinical investigations, detailed molecular analyses of MT‐ND3 have revealed that pathogenic point mutations (for example, m.10191T>C, m.10197G>A, and related substitutions changing critical amino acid residues) directly result in complex I deficiency, which is a well‐established cause of severe early‐onset encephalopathies (e.g., Leigh syndrome and MELAS overlap syndromes). Furthermore, studies have demonstrated that both inherited and de novo alterations in MT‐ND3 contribute to disease phenotypes, and that its genetic variants may serve as biomarkers for detecting tumoral micrometastasis or as modifiers of treatment response in neuropsychiatric and metabolic conditions. Collectively, these findings underscore the central role of MT‐ND3 in integrating mitochondrial electron transport, energy production, and redox balance in health and disease."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "21", "end_ref": "39"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Y Ishikawa, K Kashiwase, M Okai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Polymorphisms in the coding region of mtDNA and effects on clinical outcome of unrelated bone marrow transplantation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Bone Marrow Transplant (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.bmt.1703199"}], "href": "https://doi.org/10.1038/sj.bmt.1703199"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11607774"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11607774"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Shinsuke Washizuka, Akifumi Ikeda, Nobumasa Kato, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Possible relationship between mitochondrial DNA polymorphisms and lithium response in bipolar disorder."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Neuropsychopharmacol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1017/S1461145703003778"}], "href": "https://doi.org/10.1017/S1461145703003778"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14604458"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14604458"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Marco Crimi, Alexandros Papadimitriou, Sara Galbiati, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Res (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1203/01.PDR.0000117844.73436.68"}], "href": "https://doi.org/10.1203/01.PDR.0000117844.73436.68"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14764913"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14764913"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Chieko Kato, Tadashi Umekage, Mamoru Tochigi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial DNA polymorphisms and extraversion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet B Neuropsychiatr Genet (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.b.20141"}], "href": "https://doi.org/10.1002/ajmg.b.20141"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15211636"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15211636"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Daniele Ghezzi, Cecilia Marelli, Alessandro Achilli, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.ejhg.5201425"}], "href": "https://doi.org/10.1038/sj.ejhg.5201425"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15827561"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15827561"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Yiguo Jiang, Tammy Ellis, Anne R Greenlee "}, {"type": "b", "children": [{"type": "t", "text": "Genotyping Parkinson disease-associated mitochondrial polymorphisms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Med Res (2004)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3121/cmr.2.2.99"}], "href": "https://doi.org/10.3121/cmr.2.2.99"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15931342"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15931342"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Cecilia Huerta, Mónica G Castro, Eliecer Coto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial DNA polymorphisms and risk of Parkinson's disease in Spanish population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Neurol Sci (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jns.2005.04.016"}], "href": "https://doi.org/10.1016/j.jns.2005.04.016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15975594"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15975594"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "E Leshinsky-Silver, D Lev, Z Tzofi-Berman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochem Biophys Res Commun (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.bbrc.2005.06.134"}], "href": "https://doi.org/10.1016/j.bbrc.2005.06.134"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16023078"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16023078"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Jeffrey A Canter, Asha R Kallianpur, Fritz F Parl, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial DNA G10398A polymorphism and invasive breast cancer in African-American women."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Res (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1158/0008-5472.CAN-05-1428"}], "href": "https://doi.org/10.1158/0008-5472.CAN-05-1428"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16140977"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16140977"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Audesh Bhat, Anil Koul, Swarkar Sharma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The possible role of 10398A and 16189C mtDNA variants in providing susceptibility to T2DM in two North Indian populations: a replicative study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-006-0272-4"}], "href": "https://doi.org/10.1007/s00439-006-0272-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17066297"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17066297"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Katayoon Darvishi, Swarkar Sharma, Audesh K Bhat, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial DNA G10398A polymorphism imparts maternal Haplogroup N a risk for breast and esophageal cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Lett (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.canlet.2006.09.005"}], "href": "https://doi.org/10.1016/j.canlet.2006.09.005"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17081685"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17081685"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Emmanuelle Sarzi, Michael D Brown, Sophie Lebon, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.31565"}], "href": "https://doi.org/10.1002/ajmg.a.31565"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17152068"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17152068"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Jong Hee Chae, Jin Sook Lee, Ki Joong Kim, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A novel ND3 mitochondrial DNA mutation in three Korean children with basal ganglia lesions and complex I deficiency."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Res (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1203/pdr.0b013e3180459f2d"}], "href": "https://doi.org/10.1203/pdr.0b013e3180459f2d"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17413873"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17413873"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Siri Hauge Opdal, Ashild Vege, Marianne Arnestad, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial tRNA genes and flanking regions in sudden infant death syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Acta Paediatr (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1651-2227.2007.00085.x"}], "href": "https://doi.org/10.1111/j.1651-2227.2007.00085.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17429907"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17429907"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "David K Simon, Kangni Zheng, Luis Velázquez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial complex I gene variant associated with early age at onset in spinocerebellar ataxia type 2."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Neurol (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1001/archneur.64.7.1042"}], "href": "https://doi.org/10.1001/archneur.64.7.1042"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17620498"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17620498"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "E Rai, S Sharma, A Koul, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Interaction between the UCP2-866G/A, mtDNA 10398G/A and PGC1alpha p.Thr394Thr and p.Gly482Ser polymorphisms in type 2 diabetes susceptibility in North Indian population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Genet (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00439-007-0421-4"}], "href": "https://doi.org/10.1007/s00439-007-0421-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17701054"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17701054"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Jeffrey A Canter, Patrick R Norris, Jason H Moore, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Specific polymorphic variation in the mitochondrial genome and increased in-hospital mortality after severe trauma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Surg (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/SLA.0b013e3181469955"}], "href": "https://doi.org/10.1097/SLA.0b013e3181469955"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17717444"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17717444"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Digna R Velez, Ramkumar Menon, Hyagriv Simhan, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial DNA variant A4917G, smoking and spontaneous preterm birth."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mitochondrion (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.mito.2007.10.007"}], "href": "https://doi.org/10.1016/j.mito.2007.10.007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18082471"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18082471"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Veronica Wendy Setiawan, Li-Hao Chu, Esther M John, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial DNA G10398A variant is not associated with breast cancer in African-American women."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Genet Cytogenet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cancergencyto.2007.10.019"}], "href": "https://doi.org/10.1016/j.cancergencyto.2007.10.019"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18262047"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18262047"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "H Yamasue, C Kakiuchi, M Tochigi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association between mitochondrial DNA 10398A>G polymorphism and the volume of amygdala."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Brain Behav (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1601-183X.2008.00408.x"}], "href": "https://doi.org/10.1111/j.1601-183X.2008.00408.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18518927"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18518927"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Wen-Qiang Liao, Yan Pang, Chang-An Yu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel mutations of mitochondrial DNA associated with type 2 diabetes in Chinese Han population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Tohoku J Exp Med (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1620/tjem.215.377"}], "href": "https://doi.org/10.1620/tjem.215.377"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18679013"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18679013"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Daniel Covarrubias, Ren-Kui Bai, Lee-Jun C Wong, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial DNA variant interactions modify breast cancer risk."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10038-008-0331-x"}], "href": "https://doi.org/10.1007/s10038-008-0331-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18709563"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18709563"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "E Webb, P Broderick, I Chandler, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Br J Cancer (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.bjc.6604805"}], "href": "https://doi.org/10.1038/sj.bjc.6604805"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19050702"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19050702"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Loredana Castri, Mauricio Melendez-Obando, Ramon Villegas-Palma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial polymorphisms are associated both with increased and decreased longevity."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Hered (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1159/000181152"}], "href": "https://doi.org/10.1159/000181152"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19077432"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19077432"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Iu M Ulybina, E N Imianitov, D A Vasil'ev, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Polymorphism of glucose intolerance and insulin resistance susceptibility genes in oncological patients]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol (Mosk) (2008)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19140314"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19140314"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "Kang Wang, Yuji Takahashi, Zong-Liang Gao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Neurogenetics (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s10048-009-0194-0"}], "href": "https://doi.org/10.1007/s10048-009-0194-0"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19458970"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19458970"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "Klaus G E Werner, Chantal F Morel, Adam Kirton, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Rolandic mitochondrial encephalomyelopathy and MT-ND3 mutations."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Neurol (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.pediatrneurol.2009.02.010"}], "href": "https://doi.org/10.1016/j.pediatrneurol.2009.02.010"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19520270"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19520270"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "Anshu Bhardwaj, Mitali Mukerji, Shipra Sharma, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MtSNPscore: a combined evidence approach for assessing cumulative impact of mitochondrial variations in disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Bioinformatics (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1471-2105-10-S8-S7"}], "href": "https://doi.org/10.1186/1471-2105-10-S8-S7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19758471"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19758471"}]}, {"type": "r", "ref": 29, "children": [{"type": "t", "text": "Han-Ning Wang, Hong-Dong Chen, Kai-Yun Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Highly expressed MT-ND3 positively associated with histological severity of hepatic steatosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "APMIS (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/apm.12166"}], "href": "https://doi.org/10.1111/apm.12166"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24020820"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24020820"}]}, {"type": "r", "ref": 30, "children": [{"type": "t", "text": "Yi-Ju Li, Mollie A Minear, Xuejun Qin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Invest Ophthalmol Vis Sci (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1167/iovs.13-13517"}], "href": "https://doi.org/10.1167/iovs.13-13517"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24917144"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24917144"}]}, {"type": "r", "ref": 31, "children": [{"type": "t", "text": "Katsuhiro Uzawa, Atsushi Kasamatsu, Takao Baba, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Quantitative detection of circulating tumor-derived mitochondrial NADH subunit variants as a potential prognostic biomarker for oral cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Oncol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3892/ijo.2015.3083"}], "href": "https://doi.org/10.3892/ijo.2015.3083"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26179426"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26179426"}]}, {"type": "r", "ref": 32, "children": [{"type": "t", "text": "Sheng Chen, Shi-Rui Gan, Ping-Ping Cai, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial NADH Dehydrogenase Subunit 3 Polymorphism Associated with an Earlier Age at Onset in Male Machado-Joseph disease Patients."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "CNS Neurosci Ther (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/cns.12443"}], "href": "https://doi.org/10.1111/cns.12443"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26336829"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26336829"}]}, {"type": "r", "ref": 33, "children": [{"type": "t", "text": "Y Yu, F Lv, H Lin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial ND3 G10398A mutation: a biomarker for breast cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Mol Res (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.4238/2015.December.21.12"}], "href": "https://doi.org/10.4238/2015.December.21.12"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26782384"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26782384"}]}, {"type": "r", "ref": 34, "children": [{"type": "t", "text": "Erik Boehm, Sofia Zaganelli, Kinsey Maundrell, et al. "}, {"type": "b", "children": [{"type": "t", "text": "FASTKD1 and FASTKD4 have opposite effects on expression of specific mitochondrial RNAs, depending upon their endonuclease-like RAP domain."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nucleic Acids Res (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/nar/gkx164"}], "href": "https://doi.org/10.1093/nar/gkx164"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28335001"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28335001"}]}, {"type": "r", "ref": 35, "children": [{"type": "t", "text": "Mónica Martínez-Ramírez, Ramón Mauricio Coral-Vázquez, Alberto Tenorio, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Complete sequence of the ATP6 and ND3 mitochondrial genes in breast cancer tissue of postmenopausal women with different body mass indexes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Diagn Pathol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.anndiagpath.2017.09.001"}], "href": "https://doi.org/10.1016/j.anndiagpath.2017.09.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29414393"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29414393"}]}, {"type": "r", "ref": 36, "children": [{"type": "t", "text": "Eun-Heui Jin, Jae Kyu Sung, Sang-Il Lee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mitochondrial NADH Dehydrogenase Subunit 3 ("}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "MTND3"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": ") Polymorphisms are Associated with Gastric Cancer Susceptibility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Med Sci (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7150/ijms.26881"}], "href": "https://doi.org/10.7150/ijms.26881"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30275759"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30275759"}]}, {"type": "r", "ref": 37, "children": [{"type": "t", "text": "Taeka Hattori, Takashi Hamazaki, Satoshi Kudo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Metabolic Signature of MELAS/Leigh Overlap Syndrome in Patient-specific Induced Pluripotent Stem Cells Model."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Osaka City Med J (2016)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30721581"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30721581"}]}, {"type": "r", "ref": 38, "children": [{"type": "t", "text": "Elena Mihailova Ivanova, Snezhina Mihailova Kandilarova, Tzvetelin Ivanov Lukanov, et al. "}, {"type": "b", "children": [{"type": "t", "text": "NGS-based mtDNA Profiling Could Reveal Genetic Alterations in Schizophrenia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Top Med Chem (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.2174/1568026621666210521155500"}], "href": "https://doi.org/10.2174/1568026621666210521155500"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34060999"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34060999"}]}, {"type": "r", "ref": 39, "children": [{"type": "t", "text": "Fatina W Dahadhah, Mayyas Saleh Jaweesh, Mazhar Salim Al Zoubi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lack of association between single polymorphic variants of the mitochondrial nicotinamide adenine dinucleotide dehydrogenase 3, and 4L (MT-ND3 and MT-ND4L) and male infertility."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Andrologia (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/and.14139"}], "href": "https://doi.org/10.1111/and.14139"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34120353"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34120353"}]}]}]}