| Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency. | Compound heterozygous mutations of NDUFV1 identified in a child with mitochondrial complex I deficiency.
Tang X, Xu W, Song X, Ye H, Ren X, Yang Y, Zhang H, Wu S, Lan X. | 05/28/2022 |
| Intracellular CYTL1, a novel tumor suppressor, stabilizes NDUFV1 to inhibit metabolic reprogramming in breast cancer. | Intracellular CYTL1, a novel tumor suppressor, stabilizes NDUFV1 to inhibit metabolic reprogramming in breast cancer.
Xue W, Li X, Li W, Wang Y, Jiang C, Zhou L, Gao J, Yu Y, Shen Y, Xu Q., Free PMC Article | 03/26/2022 |
| Biallelic missense variants in NDUFV1 were identified in two cases of mitochondrial complex I deficiency. | Genetic diversity of NDUFV1-dependent mitochondrial complex I deficiency.
Srivastava A, Srivastava KR, Hebbar M, Galada C, Kadavigrere R, Su F, Cao X, Chinnaiyan AM, Girisha KM, Shukla A, Bielas SL., Free PMC Article | 03/16/2019 |
| Mutations in the ND6, NDUFV1 or ACAD9 genes are responsible for the mitochondrial complex I deficiency. | Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency.
Leipnitz G, Mohsen AW, Karunanidhi A, Seminotti B, Roginskaya VY, Markantone DM, Grings M, Mihalik SJ, Wipf P, Van Houten B, Vockley J., Free PMC Article | 11/24/2018 |
| we have used a yeast model system to study the molecular consequences of 16 single amino acid substitutions, classified as pathogenic, in the NDUFV1 subunit of complex I | Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
Varghese F, Atcheson E, Bridges HR, Hirst J., Free PMC Article | 09/17/2016 |
| The presented clinical courses of NDUFV1 and NDUFS1 mutation-based complex I deficiencies are characterized by leukoencephalopathy or early death and expand the already heterogeneous phenotypic spectrum. | Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.
Björkman K, Sofou K, Darin N, Holme E, Kollberg G, Asin-Cayuela J, Holmberg Dahle KM, Oldfors A, Moslemi AR, Tulinius M. | 11/21/2015 |
| small number of putative de novo variants were transmitted from BAP parents to their ASD offspring, and evidence emerged for a rare duplication CNV at 11p13.3 harboring two putative developmental/neuropsychiatric susceptibility gene(s), GSTP1 and NDUFV1. | Using extended pedigrees to identify novel autism spectrum disorder (ASD) candidate genes.
Woodbury-Smith M, Paterson AD, Thiruvahindrapduram B, Lionel AC, Marshall CR, Merico D, Fernandez BA, Duku E, Sutcliffe JS, O'Conner I, Chrysler C, Thompson A, Kellam B, Tammimies K, Walker S, Yuen RK, Uddin M, Howe JL, Parlier M, Whitten K, Szatmari P, Vieland VJ, Piven J, Scherer SW. | 04/18/2015 |
| The results affirm that NDUFV1 mutations are causative of the phenotype in two siblings affected by a diffuse leukodystrophy. | A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations.
Ortega-Recalde O, Fonseca DJ, Patiño LC, Atuesta JJ, Rivera-Nieto C, Restrepo CM, Mateus HE, van der Knaap MS, Laissue P. | 09/20/2014 |
| observed 2 consanguinous siblings with early-onset encephalopathy, medulla, brainstem and mesencephalon lesions and death before 8 months of age, caused by a complex I deficiency; identified a missense mutation in the NDUFV1 gene; the mutation, p.Arg386His, affects a highly conserved residue | A novel NDUFV1 gene mutation in complex I deficiency in consanguineous siblings with brainstem lesions and Leigh syndrome.
Vilain C, Rens C, Aeby A, Balériaux D, Van Bogaert P, Remiche G, Smet J, Van Coster R, Abramowicz M, Pirson I. | 08/31/2013 |
| study describes clinical, radiological, biochemical and molecular data of 6 patients with Leigh syndrome with novel mutations in NDUFV1 and NDUFS2; 2 siblings were homozygous for previously undescribed R386C mutation in NDUFV1 | Leigh syndrome associated with mitochondrial complex I deficiency due to novel mutations In NDUFV1 and NDUFS2.
Marin SE, Mesterman R, Robinson B, Rodenburg RJ, Smeitink J, Tarnopolsky MA. | 05/4/2013 |
| significant negative-correlation between left ventricular end-diastolic dimension and NDUFV1 production in dilated cardiomyopathy | A NADH dehydrogenase ubiquinone flavoprotein is decreased in patients with dilated cardiomyopathy.
Ono H, Nakamura H, Matsuzaki M. | 02/5/2011 |
| Sp1 was abnormally expressed in schizophrenia and its mRNA alteration pattern paralleled that of NDUFV1 and NDUFV2 in schizophrenic patients. | Sp1 expression is disrupted in schizophrenia; a possible mechanism for the abnormal expression of mitochondrial complex I genes, NDUFV1 and NDUFV2.
Ben-Shachar D, Karry R., Free PMC Article | 06/14/2010 |
| Mutations in the NDUFV1 gene is linked to a delayed mitochondrial network recovery in OXPHOS disorders. | Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts.
Morán M, Rivera H, Sánchez-Aragó M, Blázquez A, Merinero B, Ugalde C, Arenas J, Cuezva JM, Martín MA. | 05/31/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (4) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects.
Saito A, Kawamoto M, Kamatani N. Oxidative stress, telomere length and biomarkers of physical aging in a cohort aged 79 years from the 1932 Scottish Mental Survey.
Starr JM, Shiels PG, Harris SE, Pattie A, Pearce MS, Relton CL, Deary IJ. A genetic association analysis of cognitive ability and cognitive ageing using 325 markers for 109 genes associated with oxidative stress or cognition.
Harris SE, Fox H, Wright AF, Hayward C, Starr JM, Whalley LJ, Deary IJ. | 11/19/2008 |