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Journal articles on the topic 'Ndufv1'

Author: Grafiati
Published: 15 March 2025

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1

Pomohaibo, V., O. Berezan, and A. Petrushov. "GENETICS OF PARANOIDPERSONALITYDISORDER." Psychology and Personality, no. 1 (January 27, 2022): 198–211. http://dx.doi.org/10.33989/2226-4078.2022.1.252067.

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Paranoid personality disorder (PPD) is characterized by the following leading features: excessive sensitivity to failures and refusals; inclination to persistently endure even minor insults and injuries or slights, refusing to forgive them; suspicion and distortion of facts, interpretation of friendly or neutral actions of other people as hostile or contemptuous; unjustified suspicions of sexual infidelity of a partner; unfounded concern about the imaginary conspiracy of events both in relation to himself and around the world; feeling of one's own usually exaggerated significance; unfounded militant defense of their personal rights. The prevalence of PPD is 2.3-4.4% and is more often diagnosed in men. Heritability of PPD varies from 28% to 66%. By now various authors have described 16 genes associated with the development of PPD: SLC6A4, COMT, CACNA1C, NOS1AP, DYNC1I1 and 11 genes of mitochondrial complex 1. The SLC6A4 gene (17q11.2) encodes a reverse serotonin transporter. A slight deletion in the promoter of this gene reduces its activity and can minimize the expression of paranoid traits. The product of the COMT gene (22q11.21) is actively involved in dopamine metabolism. A G-to-A transition atcodon 158 of this gene increases its activity by 3-4 times and, as a consequence, decreases dopamine expression in the prefrontal cortex, which causes paranoid symptoms of personality disorders. The CACNA1C gene (12p13.33) encodes a protein that plays an important role in the formation and activity of brain neurons. The single nucleotide polymorphism rs1006737, located in the 3rd intron of this gene, is associated with PPD, schizophrenia, schizotypal personality disorder, major depressive disorder and bipolar disorder. Mitochondrial complex 1 and cellular bioenergetic pathways play a significant role in the etiology and features of PPD and schizophrenia. Significant changes in expression of 11 genes were detected in patients with PPD compared to the control sample. Expression of genes NDUFS1 (2q33.3), NDUFV1 (11q13.2), NDUFV2 (18p11.22), NDUFB5 (3q26.33), NDUFB9 (8q24.13), NDUFA13(19p13.11), NDUFA8 (9q33. 2) and NDUFA5 (7q31.32) was increased, and the genes NDUFB11 (Xp11.3), NDUFS7 (19p13.3) and NDUFS8 (11q13.2) were decreased. The NDUFS1 gene expression was particularly high. None of the sevenmitochondrial genes showed a change in expression,which may reduce the importance of a maternal patternin the heritance of PPD.The results of the study showed that the NDUFS1 gene may be a specific marker for PPD. In the presence of relevant genetic factors certain environmental conditions can provoke the development of PPD. It is possible to predict PPD on the presence of NOS1AP (1q23.3) gene polymorphisms and childhood abuse. The protein encoded by this gene is involved in the functioning of brain synapses. There is shown that emotional violence and SNPs rs348624 and rs4145621, located respectively in the 9th exon and 3rd intron of the NOS1AP gene, reliably predict PPD. In addition to described above 16 genes, whose variants are reliably involved in PPD, various researchers have identified at least 8 other genes that are likely to be associated with PPD, although they have been identified in the study of other mental disorders, mainly schizophrenia. A review of available scientific sources on PPD genetics shows that research of this problem isin its beginning. It is necessary to expand and deepen these studies on the basis of the most modern molecular genetic technologies, one of which is the genome-wide associations study. This technology makes it possible not only to detect candidate genes, but also to determine the nature of mutations that cause hereditary disease. Such mutations can be single nucleotide polymorphisms, small insertions / deletions and changes in the number of copies. In addition, they can be located not only within genes (in exons and introns), but also in intergenic regions of DNA. Gene expression can be affected not only by mutations within its exons, but also by mutations within its introns and intergenic DNA regions.
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Haghighatfard, Arvin, Mitra Salehi, Seyed Mehdi Saberi, and Mehrdad Hashemi. "Expression Study of NDUFS1, NDUFV1, and NDUFV2 in Schizophrenia and Paranoid Personality Disorder." Galen Medical Journal 11 (December 4, 2022): e2165. http://dx.doi.org/10.31661/gmj.v11i.2165.

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Background: Schizophrenia (SCZ) is a major psychiatric disorder with unclear etiology and biological diagnosis. Paranoid personality disorder (PPD) is a type-A personality disorder characterized by paranoia and generalized mistrust. The etiology and molecular mechanisms of SCZ and PPD are not clarified. The present study aimed to examine the expression alteration of three major genes of mitochondrial complex I in the peripheral blood of patients with SCZ and PPD, and its correlations with clinical features of patients, especially the five major personality traits. Materials and Methods: This case-control study was performed on 735 SCZ, 742 PPD, and 750 non-psychiatric individuals. The mRNAs level of NDUFS1, NDUFV1, and NDUFV2 were assessed using quantitative real-time polymerase chain reaction, and their correlations with psychiatric symptoms were assessed by the positive and negative syndrome scale and the brief psychiatric rating scale tests, as well as personality traits that were evaluated by NEO Five-Factor Inventory. Results: Findings showed significant overexpression of NDUFS1, NDUFV1, and NDUFV2 in patients with SCZ (P=0.001, P=0.002, and P=0.004, respectively) and PPD (P=0.001, P=0.003, and P=0.006, respectively) compared with non-psychiatrists. In addition, these genes were associated with positive psychiatric symptoms and neuroticism in SCZ (P=0.008) and PPD (P=0.01). Conclusion: Overexpression genes that encode subunits of complex I play an important role in SCZ and PPD etiology and severity of symptoms. It may bring evidence about the significant role of bioenergetics dysfunction in psychotic behaviors in different psychiatric situations.
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Tan, Yixuan, Yanhong Ma, Suzhi Guo, and Yaoting Lin. "Association of abnormal NDUFB2 and UQCRH expression with venous thromboembolism in patients with liver cirrhosis." Medicine 103, no. 1 (January 5, 2024): e36868. http://dx.doi.org/10.1097/md.0000000000036868.

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Venous thromboembolism (VTE) refers to abnormal coagulation of blood in veins, resulting in complete or incomplete occlusion of the blood vessels. Patients with liver cirrhosis are prone to blood clots. However, relationship between NDUFB2 and UQCRH and VTE is not clear. GSE19151 and GSE48000 profiles for venous thromboembolism were downloaded from gene expression omnibus (GEO) generated using GPL571 and GPL10558. Multiple datasets were merged and batched. The differentially expressed genes (DEGs) were screened and weighted gene co-expression network analysis (WGCNA) was performed. The construction and analysis of protein–protein interaction (PPI) network, functional enrichment analysis, Gene Set Enrichment Analysis (GSEA) were conducted. Gene expression heat map was drawn. Comparative toxicogenomics database (CTD) analysis were performed to find disease most related to the core genes. Western blotting (WB) experiments were further verified. TargetScan screened miRNAs that regulated central DEGs. 129 DEGs were identified. According to gene ontology (GO), DEGs were mainly enriched in mRNA metabolism, oxidative phosphorylation, nucleic acid binding and enzyme binding. The Kyoto Encyclopedia of Gene and Genome (KEGG) analysis showed that target cells were mainly enriched in ribosomes and oxidative phosphorylation. The intersection of enrichment items and GOKEGG enrichment items of DEGs is mainly enriched in oxidative phosphorylation, myocardial contraction and ribosome. In the metascape enrichment project, dna template transcription, cell stress response regulation and proton transport across the membrane can be seen in the GO enrichment project. The PPI network obtained 10 core genes (COX7C, NDUFB2, ATP5O, NDUFA4, NDUFAB1, ATP5C1, ATP5L, NDUFA7, NDUFA6, UQCRH). Gene expression heat map showed that 5 core genes (NDUFAB1, NDUFB2, UQCRH, COX7C, NDUFA4) were highly expressed in venous thromboembolism samples, and lowly expression in normal tissue samples, and 2 core genes (NDUFA7, NDUFA6) were lowly expressed in venous thromboembolism samples. CTD analysis showed that 5 genes (NDUFAB1, NDUFB2, UQCRH, COX7C, NDUFA4) were found to be associated with obesity, necrosis, inflammation and hepatomegaly. The result of WB showed that expression level of NDUFB2 and UQCR in venous thromboembolism was higher than that in control group. NDUFB2 and UQCRH are highly expressed in venous thromboembolism with liver cirrhosis, making them potential molecular targets for early diagnosis and precise treatment.
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Sheftel, Alex D., Oliver Stehling, Antonio J. Pierik, Daili J. A. Netz, Stefan Kerscher, Hans-Peter Elsässer, Ilka Wittig, Janneke Balk, Ulrich Brandt, and Roland Lill. "Human Ind1, an Iron-Sulfur Cluster Assembly Factor for Respiratory Complex I." Molecular and Cellular Biology 29, no. 22 (September 14, 2009): 6059–73. http://dx.doi.org/10.1128/mcb.00817-09.

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ABSTRACT Respiratory complex I (NADH:ubiquinone oxidoreductase) is a large mitochondrial inner membrane enzyme consisting of 45 subunits and 8 iron-sulfur (Fe/S) clusters. While complex I dysfunction is the most common reason for mitochondrial diseases, the assembly of complex I and its Fe/S cofactors remains elusive. Here, we identify the human mitochondrial P-loop NTPase, designated huInd1, that is critically required for the assembly of complex I. huInd1 can bind an Fe/S cluster via a conserved CXXC motif in a labile fashion. Knockdown of huInd1 in HeLa cells by RNA interference technology led to strong decreases in complex I protein and activity levels, remodeling of respiratory supercomplexes, and alteration of mitochondrial morphology. In addition, huInd1 depletion resulted in massive decreases in several subunits (NDUFS1, NDUFV1, NDUFS3, and NDUFA13) of the peripheral arm of complex I, with the concomitant appearance of a 450-kDa subcomplex representing part of the membrane arm. By a novel radiolabeling technique, the amount of iron associated with complex I was also shown to reflect the dependence of this enzyme on huInd1 for assembly. Together, these data identify huInd1 as a new assembly factor for human respiratory complex I with a possible role in the delivery of one or more Fe/S clusters to complex I subunits.
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Kistol, Denis, Polina Tsygankova, Tatiana Krylova, Igor Bychkov, Yulia Itkis, Ekaterina Nikolaeva, Svetlana Mikhailova, et al. "Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia." International Journal of Molecular Sciences 24, no. 2 (January 13, 2023): 1597. http://dx.doi.org/10.3390/ijms24021597.

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Leigh syndrome (LS), also known as infantile subacute necrotizing encephalopathy, is the most frequent mitochondrial disorder in children. Recently, more than 80 genes have been associated with LS, which greatly complicates the diagnosis. In this article, we present clinical and molecular findings of 219 patients with LS and give the detailed description of three cases with rare findings in nuclear genes MORC2, NARS2 and VPS13D, demonstrating wide genetic heterogeneity of this mitochondrial disease. The most common cause of LS in Russian patients are pathogenic variants in the SURF1 gene (44.3% of patients). The most frequent pathogenic variant is c.845_846delCT (66.0% of mutant alleles; 128/192), which is also widespread in Eastern Europe. Five main LS genes, SURF1, SCO2, MT-ATP6, MT-ND5 and PDHA1, account for 70% of all LS cases in the Russian Federation. Using next generation sequencing (NGS) technique, we were able to detect pathogenic variants in other nuclear genes: NDUFV1, NDUFS2, NDUFS8, NDUFAF5, NDUFAF6, NDUFA10, SUCLG1, GFM2, COX10, PMPCB, NARS2, PDHB and SLC19A3, including two genes previously associated with Leigh-like phenotypes—MORC2 and VPS13D. We found 49 previously undescribed nucleotide variants, including two deep intronic variants which affect splicing.
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Wen, Jake J., and Ravi S. Radhakrishnan. "41 Changes of Mitochondria-related Gene Expression Profile Associated with Burn-induced Cardiomyopathy." Journal of Burn Care & Research 41, Supplement_1 (March 2020): S27—S28. http://dx.doi.org/10.1093/jbcr/iraa024.045.

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Abstract Introduction Burn-related cardiac mitochondria dysfunction (BRMD) is associated with negative health outcomes and decreased health-related quality of life; however, few studies of the molecular-genetic mechanisms of BRMD exist. Methods 60% of total body surface area (TBSA) burned rats was employed. O2K Respirometer system (Innsbruck, Austria) was utilized to measure cardiac mitochondrial function. OXPHOS complex activities were determined by using OXPHOS enzyme complex activity assays (Cayman Chemical, Ann Arbor, Michigan). The Rat Mitochondria RT2 Profiler PCR Array was used to identify differential regulation of genes involved in mitochondrial biogenesis and metabolism function. Results Burn injury induced cardiac mit dysfunction by decreasingOXPHOS oxygen consumption at State 3 energized by malate/pyruvate and succinate and declining mit ETC activity in complex I, III, IV and V. 84 rat mit-related gene profiles were measured. The mitochondrial gene profile showed that 30/84 genes related to mitochondrial function and structure were differentially expressed. Of these 30 genes, 17 (ATP12a, ATP4a, ATP6v0a2, ATP6v1e2, ATP6v1g3, COX8c, LHPP, NDUFA5, SLC25a10, SLC25a15, UCP1, UCP2, UCP3, UQCRFS1, LDHA and RGDC) were more than 2 fold up-regulated, and 13 (ATP5c1, ATP5i, ATP5L, COX17, COX6c, COX7a2, NDUFA8, NDUFB3, NDUFB7, NDUFB9, NDUFS4, NDUFS8, and UQCRB) were greater than 2-fold down-regulated. Furthermore, 8 genes (AIFM2, BCL2, FIS1, IMMP2L, MSTO1, SLC25A23, SLC25A37, SLC25A4) that had significant differentially expression were associated with heart dysfunction. Conclusions This study provides preliminary evidence that 30 mitochondrial function genes were significantly associated with burn-induced heart dysfunction in 24 hpb rats. Applicability of Research to Practice These findings elucidate possible pathways and early biomarkers for targeting novel interventions for burn-induced heart dysfunction.
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Zhang, Xiaomin, Fathima Ameer, Jasmine Crane, Gohar Azhar, and Jeanne Wei. "Sirtuin-1 isoforms differentially regulate mitochondrial function." Innovation in Aging 5, Supplement_1 (December 1, 2021): 667–68. http://dx.doi.org/10.1093/geroni/igab046.2518.

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Abstract Alternative splicing generates multiple distinct isoforms that increase transcriptome and proteome diversity. Alternatively spliced isoforms may lose part of the protein domain and have different intracellular localization as well as distinct functions. The main form of the SIRT1 (SIRT1v1) protein contains 11 exons. We have identified two new isoforms, SIRT1v2 (lost 2 exons), and SIRT1v3 (lost 3 exons), but their effect on mitochondrial gene expression has not been reported. To study the effect of the three SIRT1 isoforms on mitochondrial gene expression and function, neuronal cells were transfected with SIRT1 isoforms v1, v2 or v3 plasmids, respectively. Gene expression was measured by quantitative reverse transcription PCR (RT-qPCR). Our data showed SIRT1 isoforms v1, v2 and v3 differentially regulated PCG-1alpha and PCG-1beta, which are the upstream regulators of mitochondrial structure and function. SIRT1v1 upregulated mitofusin-1 (MFN1), the mitochondrial dynamin-like GTPase (OPA1) gene, and the transcription factor A mitochondrial (TFAM) gene. In contrast, the SIRT1-v2 isoform repressed the MFN1, MFN2, and TFAM genes, while the SIRT1-v3 isoform repressed the MFN1 gene. In addition, the three SIRT1 isoforms differentially affected the mitochondrial respiratory complex I genes, including NDUFAB1, NDUFS1, NDUFV1, NDUFV2. The data indicates that SIRT1 regulates mitochondrial biogenesis and function through a signaling pathway involving PGC-1alpha, PCG-1beta, mitofusin 1 and 2, OPA1, and TFAM genes. Taken together, alternative splicing generated three SIRT1 isoform proteins with diverse functions. Age-related changes in the alternative splicing events are likely to impact sirtuin-regulated cellular functions and signaling pathways in aging and senescence.
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Zhang, Xiaomin, Pankaj Patyal, Ambika Verma, Shakshi Sharma, Gohar Azhar, Fathima Ameer, Yingni Che, and Jeanne Wei. "SIRTUIN 1 ISOFORMS DIFFERENTIALLY IMPACT MITOCHONDRIAL GENE EXPRESSION AND FUNCTION IN MUSCLE CELLS." Innovation in Aging 7, Supplement_1 (December 1, 2023): 772. http://dx.doi.org/10.1093/geroni/igad104.2495.

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Abstract Background Alternative splicing (AS) is a mechanism that generates multiple mRNA transcripts and protein isoforms from a single gene, thereby increasing transcriptomic and proteomic diversity. The spliced isoforms commonly lack one or more exons, which may have similar or even opposite functions. Alternatively spliced isoforms tend to increase during aging. The sirtuin-1 gene contains multiple exons and undergoes alternative splicing, which generates multiple isoforms. In this study, we assessed the impact of three sirtuin-1 isoforms on mitochondrial gene expression and function in muscle cells. Methods Three sirtuin-1 isoforms (V1, V2, V3) were subcloned into expression vectors. Muscle cell lines (H9C2 and C2C12) were transfected with sirtuin-1 isoforms, respectively. Microscopic images were obtained using a Nikon microscope. Gene expression was determined by quantitative RT-PCR and Western blotting. The mitochondrial function was determined with a Seahorse XFe96 Analyzer. Results and conclusions The sirtuin-1 V1 isoform significantly increased the oxygen consumption rate (OCR) and decreased glycolysis (ECAR) in muscle cells, while V2 and V3 isoforms had slight or no significant effect on OCR and ECAR. V1 isoform was localized in the nucleus, whereas V2 and V3 were localized in the cytoplasm. Sirtuin-1 isoforms differentially impacted mitochondrial complex genes, including NDUFS1, NDUFV1, NDUFV2, NDUFA5. Our data indicate that the domain loss changed sirtuin-1 isoform subcellular localization, differentially impacted mitochondrial gene expression, and affected mitochondrial function. The age-related change in the expression of sirtuin-1 isoforms could affect cardiac and skeletal muscle function in aging and senescence. Further exploration of the sirtuin-1 isoforms’ functions is warranted.
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Borna, Nurun Nahar, Yoshihito Kishita, Norio Sakai, Yusuke Hamada, Koji Kamagata, Masakazu Kohda, Akira Ohtake, Kei Murayama, and Yasushi Okazaki. "Leigh Syndrome Due to NDUFV1 Mutations Initially Presenting as LBSL." Genes 11, no. 11 (November 9, 2020): 1325. http://dx.doi.org/10.3390/genes11111325.

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Leigh syndrome (LS) is most frequently characterized by the presence of focal, bilateral, and symmetric brain lesions Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a rare condition, characterized by progressive pyramidal, cerebellar, and dorsal column dysfunction. We describe a case with infantile-onset neurodegeneration, psychomotor retardation, irritability, hypotonia, and nystagmus. Brain MRI demonstrated signal abnormalities in the deep cerebral white matter, corticospinal and dorsal column tracts, and pyramids, which resemble the MRI pattern of a severe form of LBSL, and involvement of basal ganglia and thalamus that resemble the radiological features of LS. We identified biallelic loss-of-function mutations, one novel (c.756delC, p.Thr253Glnfs*44) and another reported (c.1156C > T, p.Arg386Cys), in NDUFV1 (NADH:Ubiquinone Oxidoreductase Core Subunit V1) by exome sequencing. Biochemical and functional analyses revealed lactic acidosis, complex I (CI) assembly and enzyme deficiency, and a loss of NDUFV1 protein. Complementation assays restored the NDUFV1 protein, CI assembly, and CI enzyme levels. The clinical and radiological features of this case are compatible with the phenotype of LS and LBSL associated with NDUFV1 mutations.
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Kuang, Wenlong, Jianwu Huang, Yulu Yang, Yuhua Liao, Zihua Zhou, Qian Liu, and Hailang Wu. "Identification of markers correlating with mitochondrial function in myocardial infarction by bioinformatics." PLOS ONE 19, no. 12 (December 30, 2024): e0316463. https://doi.org/10.1371/journal.pone.0316463.

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Background Myocardial infarction (MI), one of the most serious cardiovascular diseases, is also affected by altered mitochondrial metabolism and immune status, but their crosstalk is poorly understood. In this paper, we use bioinformatics to explore key targets associated with mitochondrial metabolic function in MI. Methods The datasets (GSE775, GSE183272 and GSE236374) were from National Center for Biotechnology Information (NCBI) Gene Expression Omnibus (GEO) in conjunction with mitochondrial gene data that were downloaded from the MitoCarta 3.0 database. Differentially expressed genes (DEGs) in the dataset were screened by ClusterGVis, Weighted Gene Co-Expression Network Analysis (WGCNA) and GEO2R, and functional enrichment was performed by Gene Set Enrichment Analysis (GSEA) and Kyoto Encyclopedia of Genomes (KEGG). Then mitochondria-associated DEGs (MitoDEGs) were obtained. Protein-protein interaction (PPI) networks were constructed to identify central MitoDEGs that are strongly associated with MI. The Cytoscape and miRWalk databases were then used to predict the transcription factors and target miRNAs of the central MitoDEG, respectively. Finally, the mouse model has been established to demonstrate the expression of MitoDEGs and their association with cardiac function. Results MitoDEGs in MI were mainly involved in mitochondrial function and adenosine triphosphate (ATP) synthesis pathways. The 10 MI-related hub MitoDEGs were then obtained by eight different algorithms. Immunoassays showed a significant increase in monocyte macrophage and T cell infiltration. According to animal experiments, the expression trends of the four hub MitoDEGs (Aco2, Atp5a1, Ndufs3, and Ndufv1) were verified to be consistent with the bioinformatics results. Conclusion Our study identified key genes (Aco2, Atp5a1, Ndufs3, and Ndufv1) associated with mitochondrial function in myocardial infarction.
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Alkhaldi, Hind A., and Steven B. Vik. "Analysis of compound heterozygous and homozygous mutations found in peripheral subunits of human respiratory Complex I, NDUFS1, NDUFS2, NDUFS8 and NDUFV1, by modeling in the E. coli enzyme." Mitochondrion 68 (January 2023): 87–104. http://dx.doi.org/10.1016/j.mito.2022.11.007.

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Finsterer, Josef, and Sinda Zarrouk-Mahjoub. "Phenotype of NDUFV1-related disease." Journal of Pediatric Neurosciences 14, no. 3 (2019): 175. http://dx.doi.org/10.4103/jpn.jpn_124_18.

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Wadhwa, Yamini, Seema Rohilla, and Jaya Shankar Kaushik. "Cystic Leucoencephalopathy in NDUFV1 Mutation." Indian Journal of Pediatrics 85, no. 12 (June 9, 2018): 1128–31. http://dx.doi.org/10.1007/s12098-018-2721-1.

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Mortazavi, Amin, Mostafa Ghaderi-Zefrehei, Mustafa Muhaghegh Dolatabady, Mahdi Golshan, Sajad Nazari, Ayeh Sadat Sadr, Saeid Kadkhodaei, Ikhide G. Imumorin, Sunday O. Peters, and Jacqueline Smith. "An Integrated Bioinformatics Approach to Identify Network-Derived Hub Genes in Starving Zebrafish." Animals 12, no. 19 (October 10, 2022): 2724. http://dx.doi.org/10.3390/ani12192724.

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The present study was aimed at identifying causative hub genes within modules formed by co-expression and protein–protein interaction (PPI) networks, followed by Bayesian network (BN) construction in the liver transcriptome of starved zebrafish. To this end, the GSE11107 and GSE112272 datasets from the GEO databases were downloaded and meta-analyzed using the MetaDE package, an add-on R package. Differentially expressed genes (DEGs) were identified based upon expression intensity N(µ = 0.2, σ2 = 0.4). Reconstruction of BNs was performed by the bnlearn R package on genes within modules using STRINGdb and CEMiTool. ndufs5 (shared among PPI, BN and COEX), rps26, rpl10, sdhc (shared between PPI and BN), ndufa6, ndufa10, ndufb8 (shared between PPI and COEX), skp1, atp5h, ndufb10, rpl5b, zgc:193613, zgc:123327, zgc:123178, wu:fc58f10, zgc:111986, wu:fc37b12, taldo1, wu:fb62f08, zgc:64133 and acp5a (shared between COEX and BN) were identified as causative hub genes affecting gene expression in the liver of starving zebrafish. Future work will shed light on using integrative analyses of miRNA and DNA microarrays simultaneously, and performing in silico and experimental validation of these hub-causative (CST) genes affecting starvation in zebrafish.
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Finsterer, Josef, and Sinda Zarrouk-Mahjoub. "Cystic Leucoencephalopathy in NDUFV1 Mutation: Correspondence." Indian Journal of Pediatrics 86, no. 2 (August 29, 2018): 206–7. http://dx.doi.org/10.1007/s12098-018-2770-5.

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Ma, Yan-Hong, Yin Yang, Jing-Hui Li, Bo-Chen Yao, Qing-Liang Chen, Lian-Qun Wang, Zhi-Gang Guo, and Su-Zhi Guo. "NDUFB11 and NDUFS3 regulate arterial atherosclerosis and venous thrombosis: Potential markers of atherosclerosis and venous thrombosis." Medicine 102, no. 46 (November 17, 2023): e36133. http://dx.doi.org/10.1097/md.0000000000036133.

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Atherosclerosis is a chronic disease that thickens the blood vessel walls and narrows the lumen. Venous thrombosis is a blood clot that forms in the body’s deep veins or pulmonary arteries. However, the relationship between NDUFB11 and NDUFS3 and atherosclerosis and venous thrombosis is unclear. We employed data files that combined atherosclerosis and chronic stress groups. Subsequently, we conducted differential gene expression analysis (DEGs) and performed weighted gene co-expression network analysis (WGCNA). We constructed and analyzed a protein-protein interaction (PPI) network. Further analyses included functional enrichment analysis, gene set enrichment analysis (GSEA), gene expression heatmaps, immune infiltration analysis, and mRNA analysis. By comparing our findings with the Comparative Toxicogenomics Database (CTD), we identified the most relevant diseases associated with the core genes. Additionally, we utilized TargetScan to screen for miRNAs regulating the central DEGs. To validate our results, we conducted Western Blot experiments at the cellular level. A total of 1747 DEGs were co-identified. According to the Gene Ontology (GO) analysis of differentially expressed genes, they were primarily enriched in mitochondrial gene expression, mitochondrial envelope, organelle membrane, and mitochondrial inner membrane categories. Kyoto Encyclopedia of Genes and Genomes (KEGG) analysis revealed that the target cells were mainly enriched in metabolic pathways, ribosomes, and histidine metabolism. The intersection of enriched terms from both GO and KEGG analyses showed significant enrichment in mitochondrial gene expression, mitochondrial envelope, organelle inner membrane, ribosomal structural constituents, histidine metabolism, and oxidative phosphorylation. Eight core genes were identified, including NDUFS5, UQCRQ, COX6C, COX7B, ATP5ME, NDUFS3, NDUFA3, and NDUFB11. The gene expression heatmap demonstrated that core genes (NDUFB11 and NDUFS3) were downregulated in atherosclerosis with venous thrombosis samples and upregulated in normal samples. CTD analysis revealed that the core genes NDUFB11 and NDUFS3 were associated with pain, arterial diseases, atherosclerosis, arteritis, venous thrombosis formation, and venous thromboembolism. We added Western Blot basic cell experiment for verification. NDUFB11 and NDUFS3 are downregulated in atherosclerosis and venous thrombosis, associated with poorer prognosis, and may serve as potential biomarkers for both diseases.
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Björkman, Kristoffer, Kalliopi Sofou, Niklas Darin, Elisabeth Holme, Gittan Kollberg, Jorge Asin-Cayuela, Karin M. Holmberg Dahle, Anders Oldfors, Ali-Reza Moslemi, and Már Tulinius. "Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1." Mitochondrion 21 (March 2015): 33–40. http://dx.doi.org/10.1016/j.mito.2015.01.003.

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Emahazion, T., and A. J. Brookes. "Mapping1 of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping." Cytogenetic and Genome Research 82, no. 1-2 (1998): 114. http://dx.doi.org/10.1159/000015081.

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Patel, Parth H., Syed Adeel Hassan, Ahmad Kasem, Lesley Wempe, Mohamed Elsayed, Sarayu Bhogoju, Tatiana Goretsky, Goo Lee, Terrence Barrett, and Neeraj Kapur. "MITOCHONDRIAL DYSFUNCTION CAUSES CECAL PATCH (CP) INFLAMMATION IN ULCERATIVE COLITIS." Inflammatory Bowel Diseases 30, Supplement_1 (January 25, 2024): S60—S61. http://dx.doi.org/10.1093/ibd/izae020.124.

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Abstract BACKGROUND Up to 17% of distal ulcerative colitis (UC) patients have discontinuous (proximal) inflammation referred to as Cecal Patch (CP), associated with greater abdominal pain, bleeding and diarrhea. Despite these known associations, the pathogenesis of CP lesions is poorly understood. Recent data suggest that reduced mitochondrial (Mito) function predicts unfavorable clinical outcomes in active UC (Haberman et al; Nat Comm 2019). We posit that inflammation and tissue injury induced in UC-associated CP involves Mito dysfunction. METHOD UC patients with/without cecal disease and normal controls were biopsied. Tissue from CP lesions or normal caecum were collected in Allprotect® (AP) and formalin. Total RNA from AP-preserved biopsies were used for cDNA synthesis and RT-qPCR for Mito complexes, cytokines, anti-oxidant and calcineurin (CaN) signaling genes and tissue processed for IHC for Mito complexes. RESULT Transcriptomic analysis showed significant downregulation in genes associated with Mito biogenesis (PGC1α, TFAM, NRF2) and Mito complexes (Ndufa1, Ndufa4, Ndufb2, Ndufb6, mtCO1, mtCO2, Cox5B, Cox6A1, ATP5A1, ATP5B, ATP5E) in CP lesions compared to normal caecum from active patients. Major regulators of Mito biogenesis (PGC1α and TFAM) revealed ~39% and ~24% reductions of mRNA respectively, while NRF2 (anti-oxidant regulator) showed ~62% reduced mRNA in CP lesions compared to normal cecum from distal UC patients. Electron transport chain complex mRNAs showed 31%, 47%, and 48% reduction in complex I (Ndufa1, Ndufa4, Ndufb2, Ndufb6), complex IV (mtCO1, mtCO2, Cox5B, Cox6A1), and complex V (ATP5A1, ATP5B, ATP5E) levels, respectively in CP lesions compared to normal controls. Concomitantly, the IHC staining also showed significant reductions in Ndufb6, MTCO1 and Cox5A protein levels in CP lesions compared to normal cecum sections. The CP-related decreased markers of Mito biogenesis and function correlates with increased proinflammatory cytokine mRNA (IL-6: 2-fold; TGFβ1: 1.6-fold; IL-2: 2.6-fold) and decreased anti-inflammatory (IL10: 3.2-fold) gene expression in CP lesions. Further investigation demonstrated that repressed Mito function in CP lesions is associated with downregulation of anti-oxidant genes (SOD1, SOD2, Prdx3, Gpx4, Trx2) compared to normal cecum. Inflammation-induced Mito dysfunction in CP lesions also stimulates CaN signaling as demonstrated by significant increases in mRNA levels of CaN and downstream regulated genes (Cathepsin-L, Rel-A Glut4, CREB-BP and Igf-1r). CONCLUSION These data represent the first indication that Mito dysfunction occurs in CP associated with distal UC. Furthermore, we speculate that Mito dysfunction-induced CaN signaling promotes regional (CP) inflammatory responses. These important findings indicate that targeting Mito metabolism may be an important therapeutic goal of treating UC patients with CP.
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Zhang, Xiaomin, Jyotsna Shrivastava, Pankaj Patyal, Ambika Verma, Shakshi Sharma, Gohar Azhar, and Jeanne Y. Wei. "DIFFERENTIAL EFFECT OF SIRT1 ON MITOCHONDRIAL FUNCTION: INSIGHTS INTO MITOCHONDRIAL RESPIRATORY COMPLEXES." Innovation in Aging 8, Supplement_1 (December 2024): 1138–39. https://doi.org/10.1093/geroni/igae098.3652.

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Abstract Sirtuin-1 gene (SIRT1) regulates various cellular functions that influence metabolic homeostasis and aging. SIRT1 dysfunction has been implicated in cardiovascular diseases and mitochondrial dysfunction. However, mechanism of SIRT1 in the regulation of cellular respiration, metabolic homeostasis, and mitochondrial respiratory complexes is not well-known. We tested whether SIRT1 gene knockout (KO) in HEK293T affects mitochondrial respiratory complex function and expression profiles of associated genes compared with wildtype (WT) HEK293T cells. Oxygen consumption rate (OCR, assayed by XFe96 Analyzer and Oxygraph-O2K) was reduced (p < 0.001 and p < 0.05, respectively) in HEK293T SIRT1-KO cells compared to WT. Basal extracellular acidification rate (ECAR) was also reduced in SIRT1-KO cells relative to WT (p < 0.001), with higher levels of ATP in SIRT-1 KO (p < 0.01). SIRT1-KO significantly reduced the expression of glycolytic genes, including Phosphofructokinase P (p < 0.01), Hexokinase 2 (p < 0.05), and Phosphofructokinase Mv4 relative to WT (p < 0.05). Mitochondrial respiratory complexes are vital for ATP production through oxidative phosphorylation. Complex IV is crucial for the final step of electron transport chain. Compared to WT, significantly reduced OCR for complex IV in SIRT1-KO cells indicated mitochondrial dysfunction and impaired energy production (p < 0.05). SIRT1-KO also repressed the expression of mitochondrial respiratory complex I genes (NDUFAB1, NDUFV1, and NDUFV2), essential for efficient cellular respiration. This repression suggests compromised mitochondrial bioenergetics and metabolic homeostasis. Interestingly, SIRT1-KO also downregulated mitofusin-1, a key protein in maintaining mitochondrial morphology and size. Our data highlights that SIRT1 is crucial for regulating mitochondrial respiration, metabolism, and bioenergetics.
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Bénit, Paule, Dominique Chretien, Nohman Kadhom, Pascale de Lonlay-Debeney, Valérie Cormier-Daire, Aguinaldo Cabral, Sylviane Peudenier, Pierre Rustin, Arnold Munnich, and Agnès Rötig. "Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency." American Journal of Human Genetics 68, no. 6 (June 2001): 1344–52. http://dx.doi.org/10.1086/320603.

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Marin, Samantha E., Ronit Mesterman, Brian Robinson, Richard J. Rodenburg, Jan Smeitink, and Mark A. Tarnopolsky. "Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2." Gene 516, no. 1 (March 2013): 162–67. http://dx.doi.org/10.1016/j.gene.2012.12.024.

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Srivastava, Anshika, Kinshuk Raj Srivastava, Malavika Hebbar, Chelna Galada, Rajagopal Kadavigrere, Fengyun Su, Xuhong Cao, et al. "Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency." European Journal of Human Genetics 26, no. 11 (July 5, 2018): 1582–87. http://dx.doi.org/10.1038/s41431-018-0209-0.

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Ben-Shachar, Dorit, and Rachel Karry. "Sp1 Expression Is Disrupted in Schizophrenia; A Possible Mechanism for the Abnormal Expression of Mitochondrial Complex I Genes, NDUFV1 and NDUFV2." PLoS ONE 2, no. 9 (September 5, 2007): e817. http://dx.doi.org/10.1371/journal.pone.0000817.

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Björkman, K., K. Sofou, N. Darin, G. Kollberg, E. Holme, M. Tulinius, A. Oldfors, and AR Moslemi. "PP6.6 – 1797 Isolated complex I deficiency and atypical clinical courses in three patients due to novel mutations in NDUFS1 and NDUFV1." European Journal of Paediatric Neurology 17 (September 2013): S46. http://dx.doi.org/10.1016/s1090-3798(13)70156-9.

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Zaki, Maha S., Ola M. Eid, Maha M. Eid, Amal M. Mohamed, Inas S. M. Sayed, Mohamed S. Abdel-Hamid, and Ghada M. H. Abdel-Salam. "Bilateral Calcification of Basal Ganglia in a Patient with Duplication of Both 11q13.1q22.1 and 4q35.2 with New Phenotypic Features." Cytogenetic and Genome Research 159, no. 3 (2019): 130–36. http://dx.doi.org/10.1159/000504075.

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We report on a female patient who presented with severe intellectual disability and autistic behavior, dysmorphic features, orodental anomalies, and bilateral calcification of basal ganglia. Using a high-density oligonucleotide microarray, we have identified a de novo duplication of 11q13.1q22.1 involving the dosage sensitive genes FGF3 and FGF4, genes related to autosomal dominant disorders KMT5B, GAL, SPTBN2, and LRP5, susceptibility loci SCZD2, SLEH1, and SHANK2, mitochondrial genes NDUFV1, NDUFS8, and TMEM126B, and many loss of function genes, including PHOX2A, CLPB, MED17, B3GNT1, LIPT2, and CLPB. However, the duplication did not involve Ribonuclease H2, subunit C (RNASEH2C) which is considered to be located in the critical region for Aicardi-Goutières syndrome. In combination with the duplication at 11q13.1, a 1.849-Mb heterozygous duplication at 4q35.2 was also identified. Although this duplicated region does not contain causative genes related to brain calcification, the duplication at 4q35 was reported previously in a patient with basal ganglia calcification, coats' like retinopathy, and glomerulosclerosis. Our patient's presentation and genomic findings indicate that duplication of 4q35.2 could be a novel genetic cause of calcification of basal ganglia. Our report also underscores the clinical significance of rearrangements in 11q13.1q22.1 in the pathogenesis of basal ganglia calcification.
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Li, Xin-Yue, Xin Yin, Jing-Jing Lu, Qian-Ru Li, Wan-Qun Xing, Qi Han, Hong Ji, et al. "Ubiquitinome Analysis Uncovers Alterations in Synaptic Proteins and Glucose Metabolism Enzymes in the Hippocampi of Adolescent Mice Following Cold Exposure." Cells 13, no. 7 (March 25, 2024): 570. http://dx.doi.org/10.3390/cells13070570.

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Cold exposure exerts negative effects on hippocampal nerve development in adolescent mice, but the underlying mechanisms are not fully understood. Given that ubiquitination is essential for neurodevelopmental processes, we attempted to investigate the effects of cold exposure on the hippocampus from the perspective of ubiquitination. By conducting a ubiquitinome analysis, we found that cold exposure caused changes in the ubiquitination levels of a variety of synaptic-associated proteins. We validated changes in postsynaptic density-95 (PSD-95) ubiquitination levels by immunoprecipitation, revealing reductions in both the K48 and K63 polyubiquitination levels of PSD-95. Golgi staining further demonstrated that cold exposure decreased the dendritic-spine density in the CA1 and CA3 regions of the hippocampus. Additionally, bioinformatics analysis revealed that differentially ubiquitinated proteins were enriched in the glycolytic, hypoxia-inducible factor-1 (HIF-1), and 5‘-monophosphate (AMP)-activated protein kinase (AMPK) pathways. Protein expression analysis confirmed that cold exposure activated the mammalian target of rapamycin (mTOR)/HIF-1α pathway. We also observed suppression of pyruvate kinase M2 (PKM2) protein levels and the pyruvate kinase (PK) activity induced by cold exposure. Regarding oxidative phosphorylation, a dramatic decrease in mitochondrial respiratory-complex I activity was observed, along with reduced gene expression of the key subunits NADH: ubiquinone oxidoreductase core subunit V1 (Ndufv1) and Ndufv2. In summary, cold exposure negatively affects hippocampal neurodevelopment and causes abnormalities in energy homeostasis within the hippocampus.
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Cao, Song, Yun Liu, Haiying Wang, Xiaowen Mao, Jincong Chen, Jiming Liu, Zhengyuan Xia, Lin Zhang, Xingkui Liu, and Tian Yu. "Ischemic postconditioning influences electron transport chain protein turnover in Langendorff-perfused rat hearts." PeerJ 4 (February 16, 2016): e1706. http://dx.doi.org/10.7717/peerj.1706.

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Ischemia postconditioning (IPo) is a promising strategy in reducing myocardial ischemia reperfusion (I/R) injury (MIRI), but its specific molecular mechanism is incompletely understood. Langendorff-perfused isolated rat hearts were subjected to global I/R and received IPo in the absence or presence of the mitochondrial ATP-sensitive potassium channel (mitoKATP) blocker 5-hydroxydecanoate (5-HD). Myocardial mitochondria were extracted and mitochondrial comparative proteomics was analyzed. IPo significantly reduces post-ischemic myocardial infarction and improved cardiac function in I/R rat hearts, while 5-HD basically cancelled IPo’s myocardial protective effect. Joint application of two-dimensional polyacrylamide gel electrophoresis (2DE) and MALDI-TOF MS identified eight differentially expressed proteins between groups. Expression of cardiac succinate dehydrogenase (ubiquinone) flavoprotein subunit (SDHA) increased more than two-fold after I/R, while IPo led to overexpression of dihydrolipoyl dehydrogenase (DLD), NADH dehydrogenase (ubiquinone) flavoprotein 1 and isoform CRA_b (NDUFV1). When the mitoKATP was blocked, MICOS complex subunit Mic60 (IMMT) and Stress-70 protein (Grp75) were over expressed, while DLDH, ATPase subunit A (ATPA) and rCG44606 were decreased. Seven of the differential proteins belong to electron transport chain (ETC) or metabolism regulating proteins, and five of them were induced by closing mitoKATP in I/R hearts. We thus conclude that IPo’s myocardial protective effect relies on energy homeostasis regulation. DLD, SDHA, NDUFV1, Grp75, ATPA and rCG44606 may contribute to IPo’s cardial protective effect.
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Alkhaldi, Hind, and Steven Vik. "Characterization Of Clinically Identified Mutations In Peripheral Arm Subunits NDUFV1, And NDUFS1 Of Respiratory Complex I, Using an E. coli Model System." FASEB Journal 34, S1 (April 2020): 1. http://dx.doi.org/10.1096/fasebj.2020.34.s1.03456.

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Szeles, G., and B. Neubauer. "NDUFV1: Identification of a Homozygous Mutation in a Patient with Leukodystrophy." Neuropediatrics 48, S 01 (April 26, 2017): S1—S45. http://dx.doi.org/10.1055/s-0037-1602937.

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Laugel, Vincent, Valérie This-Bernd, Valérie Cormier-Daire, Claude Speeg-Schatz, Anne de Saint-Martin, and Michel Fischbach. "Early-Onset Ophthalmoplegia in Leigh-Like Syndrome Due to NDUFV1 Mutations." Pediatric Neurology 36, no. 1 (January 2007): 54–57. http://dx.doi.org/10.1016/j.pediatrneurol.2006.08.007.

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Acer, H., M. Canpolat, G. K. Özçora, and S. Kumandaş. "A familial case of Leigh Disease related to NDUFV1 homozygous mutations." European Journal of Paediatric Neurology 21 (June 2017): e133-e134. http://dx.doi.org/10.1016/j.ejpn.2017.04.1031.

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Sekul, E., S. Strickland, D. Flannery, R. Figueroa, and A. Vanderver. "Episodic Leukoencephalopathy Due to Novel Mitochondrial Complex I NDUFV1 Gene Mutations (P02.172)." Neurology 78, Meeting Abstracts 1 (April 22, 2012): P02.172. http://dx.doi.org/10.1212/wnl.78.1_meetingabstracts.p02.172.

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Schuelke, Markus, Jan Smeitink, Edwin Mariman, Jan Loeffen, Barbara Plecko, Frans Trijbels, Sylvia Stöckler-Ipsiroglu, and Lambert van den Heuvel. "Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy." Nature Genetics 21, no. 3 (March 1999): 260–61. http://dx.doi.org/10.1038/6772.

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Kahlhöfer, Flora, Max Gansen, and Volker Zickermann. "Accessory Subunits of the Matrix Arm of Mitochondrial Complex I with a Focus on Subunit NDUFS4 and Its Role in Complex I Function and Assembly." Life 11, no. 5 (May 19, 2021): 455. http://dx.doi.org/10.3390/life11050455.

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NADH:ubiquinone-oxidoreductase (complex I) is the largest membrane protein complex of the respiratory chain. Complex I couples electron transfer to vectorial proton translocation across the inner mitochondrial membrane. The L shaped structure of complex I is divided into a membrane arm and a matrix arm. Fourteen central subunits are conserved throughout species, while some 30 accessory subunits are typically found in eukaryotes. Complex I dysfunction is associated with mutations in the nuclear and mitochondrial genome, resulting in a broad spectrum of neuromuscular and neurodegenerative diseases. Accessory subunit NDUFS4 in the matrix arm is a hot spot for mutations causing Leigh or Leigh-like syndrome. In this review, we focus on accessory subunits of the matrix arm and discuss recent reports on the function of accessory subunit NDUFS4 and its interplay with NDUFS6, NDUFA12, and assembly factor NDUFAF2 in complex I assembly.
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Lal, Dennis, Kerstin Becker, Susanne Motameny, Janine Altmüller, Holger Thiele, Peter Nürnberg, Uwe Ahting, Boris Rolinski, Bernd A. Neubauer, and Andreas Hahn. "Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis." neurogenetics 14, no. 1 (January 20, 2013): 85–87. http://dx.doi.org/10.1007/s10048-013-0355-z.

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Ortega-Recalde, Oscar, Dora Janeth Fonseca, Liliana Catherine Patiño, Juan Jaime Atuesta, Carolina Rivera-Nieto, Carlos Martín Restrepo, Heidi Eliana Mateus, Marjo S. van der Knaap, and Paul Laissue. "A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations." Mitochondrion 13, no. 6 (November 2013): 749–54. http://dx.doi.org/10.1016/j.mito.2013.03.010.

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Patel, Parth H., Mohamed Elsayed, Syed Adeel Hassan, Mohamed A. ElSaadani, Ahmad Kasem, Lesley Wempe, Sarayu Bhogoju, et al. "EPITHELIAL MITOCHONDRIAL DYSFUNCTION IN CHRONIC POUCHITIS." Inflammatory Bowel Diseases 30, Supplement_1 (January 25, 2024): S59. http://dx.doi.org/10.1093/ibd/izae020.120.

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Abstract BACKGROUND Restorative proctocolectomy with ileal pouch-anal anastomosis (IPAA) is the surgical procedure of choice for patients with refractory ulcerative colitis (UC). However, patients with IPAA are at risk of pouch-related disorders like “pouchitis” with an incidence rate range from 20-50%. The underlying etiopathogenesis of pouchitis has been unclear, which makes management and treatment of active pouchitis difficult. Mitochondrial (Mito) dysfunction is commonly associated with pathogenesis of inflammatory bowel diseases (IBD). We posit the reduced Mito function contributes to chronic pouchitis in IPAA patients. In this study we performed comparative analysis of Mito complex levels in pouchitis patients compared to normal controls. METHODS Biopsies collected from ileal pouches +/- inflammation (n=6), and normal (n=3) and inflamed ileum (CD Ileitis; n=3 mean SES=5.2) were preserved in Allprotect® or formalin. Total RNA was extracted, cDNA synthesized and analyzed by RT-qPCR for genes specific for Mito biogenesis and complexes, cytokines and cellular antioxidant machinery. Formalin-fixed tissues were processed for IHC staining of Mito complex-I (NDUFB6) and complex-IV (MTCO1). RESULTS Transcriptomic analysis of active pouchitis tissue showed significant (**p<0.01) reduction of Mito biogenesis genes (PGC1α: 69.5±13.9%, TFAM: 48.7±14.5%, NRF1:48.9±17.7%) compared to normal pouch. Similar mRNA analysis in CD-ileitis showed 90.6±15.2% reduction in PGC1α gene (**p<0.01) and more than 62% reduction in TFAM and NRF1 genes compared normal ileum. We also observed 21.6±9.8% reduction in Mito complex I (Ndufa1, Ndufa4, Ndufb2, Ndufb6), 33.6±8.7% reduction in complex-IV (Cox5a Cox6a1, Cox5e) and 38.8±11.8% reduction in complex-V (ATP5a, ATP5b, ATP5e) in chronic pouchitis compared to normal controls. In contrast, CD-ileitis showed 59.5±10.2% reduction in Mito complexes at mRNA level compared to normal ileum. Altogether, CD-ileitis showed 26.3% and 23.8% reduction in Mito complexes and biogenesis genes, respectively, compared to pouchitis. At protein level, tissues from chronic pouchitis showed significantly reduced expression of NDUFB6 and MTCO1 compared to normal controls. However, the decreased expression of NDUFB6 and MTCO1 was more pronounced in active CD-ileitis patients. Concertedly, suppression of Mito biogenesis and complex genes correlated with upregulation of pro-inflammatory cytokines (IL1β and IL-6) and concomitant reduction of anti-oxidant genes (Sod1, Sod2, Gpx, Prdx-2,3,4,6). CONCLUSION These data indicate decreased levels of Mito complexes in pouchitis, although reductions are less prominent in active CD. We postulate that Mito dysfunction plays a role in the pathogenesis of chronic pouchitis after IPAA surgery in IBD patients. Furthermore, we posit mitochondria-targeted therapy may deliver therapeutic benefits in refractory pouchitis.
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Wang, Ruiting, Chen Kairen, Lu Li, Lingling Zhang, Haifeng Gong, and Xinzhong Huang. "Overexpression of NDUFV1 alleviates renal damage by improving mitochondrial function in unilateral ureteral obstruction model mice." Cell Biology International 46, no. 3 (January 3, 2022): 381–90. http://dx.doi.org/10.1002/cbin.11736.

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Nešić, Maja D., Tanja Dučić, Branislava Gemović, Milan Senćanski, Manuel Algarra, Mara Gonçalves, Milutin Stepić, Iva A. Popović, Đorđe Kapuran, and Marijana Petković. "Prediction of Protein Targets in Ovarian Cancer Using a Ru-Complex and Carbon Dot Drug Delivery Therapeutic Nanosystems: A Bioinformatics and µ-FTIR Spectroscopy Approach." Pharmaceutics 16, no. 8 (July 27, 2024): 997. http://dx.doi.org/10.3390/pharmaceutics16080997.

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We predicted the protein therapeutic targets specific to a Ru-based potential drug and its combination with pristine and N-doped carbon dot drug delivery systems, denoted as RuCN/CDs and RuCN/N-CDs. Synchrotron-based FTIR microspectroscopy (µFTIR) in addition to bioinformatics data on drug structures and protein sequences were applied to assess changes in the protein secondary structure of A2780 cancer cells. µFTIR revealed the moieties of the target proteins’ secondary structure changes only after the treatment with RuCN and RuCN/N-CDs. A higher content of α-helices and a lower content of β-sheets appeared in A2780 cells after RuCN treatment. Treatment with RuCN/N-CDs caused a substantial increase in parallel β-sheet numbers, random coil content, and tyrosine residue numbers. The results obtained suggest that the mitochondrion-related proteins NDUFA1 and NDUFB5 are affected by RuCN either via overexpression or stabilisation of helical structures. RuCN/N-CDs either induce overexpression of the β-sheet-rich protein NDUFS1 and affect its random coil structure or interact and stabilise its structure via hydrogen bonding between -NH2 groups from N-CDs with protein C=O groups and –OH groups of serine, threonine, and tyrosine residues. The N-CD nanocarrier tunes this drug’s action by directing it toward a specific protein target, changing this drug’s coordination ability and inducing changes in the protein’s secondary structures and function.
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41

Arslan, M., HI Aydin, S. Vurucu, B. Ünay, D. Gül, and R. Akin. "P182 – 1614 Mitochondrial Complex I deficiency due to a mutation in the NDUFV1 gene: a case report." European Journal of Paediatric Neurology 17 (September 2013): S103. http://dx.doi.org/10.1016/s1090-3798(13)70361-1.

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42

Baertling, Fabian, Laura Sánchez-Caballero, Mariël A. M. van den Brand, Felix Distelmaier, Mirian C. H. Janssen, Richard J. T. Rodenburg, Jan A. M. Smeitink, and Leo G. J. Nijtmans. "A Heterozygous NDUFV1 Variant Aggravates Mitochondrial Complex I Deficiency in a Family with a Homoplasmic ND1 Variant." Journal of Pediatrics 196 (May 2018): 309–13. http://dx.doi.org/10.1016/j.jpeds.2017.12.043.

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Li, Bing, Yinuo Yang, Yuejun Wang, Jing Zhang, Jie Ding, Xiaoyu Liu, Yan Jin, Bolin Lian, Yong Ling, and Cheng Sun. "Acetylation of NDUFV1 induced by a newly synthesized HDAC6 inhibitor HGC rescues dopaminergic neuron loss in Parkinson models." iScience 24, no. 4 (April 2021): 102302. http://dx.doi.org/10.1016/j.isci.2021.102302.

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Incecik, Faruk, OzlemM Herguner, Seyda Besen, SevcanT Bozdoğan, and NeslihanO Mungan. "Late-onset Leigh syndrome due to NDUFV1 mutation in a 10-year-old boy initially presenting with ataxia." Journal of Pediatric Neurosciences 13, no. 2 (2018): 205. http://dx.doi.org/10.4103/jpn.jpn_138_17.

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45

Vilain, C., C. Rens, A. Aeby, D. Balériaux, P. Van Bogaert, G. Remiche, J. Smet, R. Van Coster, M. Abramowicz, and I. Pirson. "A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome." Clinical Genetics 82, no. 3 (July 18, 2011): 264–70. http://dx.doi.org/10.1111/j.1399-0004.2011.01743.x.

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Ali, Sohail T., Alessandra M. V. Duncan, Keith Schappert, Henry H. Q. Heng, Lap Chee Tsui, Wendy Chow, and Brian H. Robinson. "Chromosomal Localization of the Human Gene Encoding the 51-kDa Subunit of Mitochondrial Complex I (NDUFV1) to 11q13." Genomics 18, no. 2 (November 1993): 435–39. http://dx.doi.org/10.1006/geno.1993.1493.

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Zhou, Li, Siyuan Chen, Siqi Liao, Song He, and Zhihang Zhou. "855 ERAL1 DOWNREGULATES NDUFV1 THROUGH M6A READER IGF2BP2 TO INHIBIT MITOCHONDRIAL ATP SYNTHESIS AND METASTASIS IN HEPATOMA CELLS." Gastroenterology 166, no. 5 (May 2024): S—1561. http://dx.doi.org/10.1016/s0016-5085(24)04041-1.

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48

Zafeiriou, D., R. J. T. Rodenburg, H. Scheffer, L. P. van den Heuvel, F. Athanasiadou-Piperopoulou, and M. S. van der Knaap. "MLP027 Serial magnetic resonance imaging and spectroscopy in mitochondrial encephalopathy due to complex I deficiency and NDUFV1 gene mutations." European Journal of Paediatric Neurology 11 (September 2007): 107. http://dx.doi.org/10.1016/s1090-3798(08)70664-0.

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Morris, Alistair, Daniel Warren, Gayatri Vadlamani, Charlotte Alston, Robert Taylor, and Arpana Silwal. "Cystic Leukoencephalopathy due to NDUFV1 mutation—A Report of the Phenotype and Its Rare Co-occurrence with Primary Hyperoxaluria." Journal of Pediatric Neurology 14, no. 03 (June 1, 2016): 126–32. http://dx.doi.org/10.1055/s-0036-1584303.

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Zhang, Haokun, Yuanhua Shao, Weijun Chen, and Xin Chen. "Identifying Mitochondrial-Related Genes NDUFA10 and NDUFV2 as Prognostic Markers for Prostate Cancer through Biclustering." BioMed Research International 2021 (May 22, 2021): 1–15. http://dx.doi.org/10.1155/2021/5512624.

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Prostate cancer is currently associated with higher morbidity and mortality in men in the United States and Western Europe, so it is important to identify genes that regulate prostate cancer. The high-dimension gene expression profile impedes the discovery of biclusters which are of great significance to the identification of the basic cellular processes controlled by multiple genes and the identification of large-scale unknown effects hidden in the data. We applied the biclustering method MCbiclust to explore large biclusters in the TCGA cohort through a large number of iterations. Two biclusters were found with the highest silhouette coefficient value. The expression patterns of one bicluster are highly similar to those found by the gene expression profile of the known androgen-regulated genes. Further gene set enrichment revealed that mitochondrial function-related genes were negatively correlated with AR regulation-related genes. Then, we performed differential analysis, AR binding site analysis, and survival analysis on the core genes with high phenotypic contribution. Among the core genes, NDUFA10 showed a low expression value in cancer patients across different expression profiles, while NDUFV2 showed a high expression value in cancer patients. Survival analysis of NDUFA10 and NDUFV2 demonstrated that both genes were unfavorable prognostic markers.
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