| NDUFA1 p.Gly32Arg variant in early-onset dementia. | NDUFA1 p.Gly32Arg variant in early-onset dementia.
Huttula S, Väyrynen H, Helisalmi S, Kytövuori L, Luukkainen L, Hiltunen M, Remes AM, Krüger J. | 05/14/2022 |
| Results from a study on gene expression variability markers in early-stage human embryos shows that NDUF1A is a putative expression variability marker for the 3-day, 8-cell embryo stage. | Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.
Hasegawa Y, Taylor D, Ovchinnikov DA, Wolvetang EJ, de Torrenté L, Mar JC., Free PMC Article | 07/23/2018 |
| The gene signature of OPA1, CTSA, NDUFA1, STK10 and PRDX1 was able to identify patients post-implant with a sensitivity of 91% and a specificity of 86% in discrimination between post-implant group and healthy controls. | Altered mitochondrial expression genes in patients receiving right ventricular apical pacing.
Xu H, Gao J, Wang F. | 06/24/2017 |
| Fanconi anemia complementation group A mutants show defective respiration through Complex I, diminished ATP production and metabolic sufferance with an increased AMP/ATP ratio. | Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A.
Ravera S, Vaccaro D, Cuccarolo P, Columbaro M, Capanni C, Bartolucci M, Panfoli I, Morelli A, Dufour C, Cappelli E, Degan P. | 03/15/2014 |
| Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency | Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.
Mayr JA, Bodamer O, Haack TB, Zimmermann FA, Madignier F, Prokisch H, Rauscher C, Koch J, Sperl W. | 02/25/2012 |
| Mutations in the NDUFA1 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 |
| hypothesize that the novel G32R mutation in NDUFA1 is causing complex I deficiency either by itself or in synergy with additional mtDNA variants | A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.
Potluri P, Davila A, Ruiz-Pesini E, Mishmar D, O'Hearn S, Hancock S, Simon M, Scheffler IE, Wallace DC, Procaccio V., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | 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. | 04/29/2009 |
| Oxidative stress and partial deficiencies of mitochondrial complex I are key factors in the pathogenesis of Parkinson's disease. (REVIEW) | Initiation of neuronal damage by complex I deficiency and oxidative stress in Parkinson's disease.
Tretter L, Sipos I, Adam-Vizi V. | 01/21/2010 |
| A family-based association study finds that the NDUFA1 gene is unlikely to harbor a major visual loss susceptibility locus for Leber hereditary optic neuropathy. | NDUFA-1 is not a nuclear modifier gene in Leber hereditary optic neuropathy.
Yu-Wai-Man P, Brown DT, Wehnert MS, Zeviani M, Carrara F, Turnbull DM, Chinnery PF. | 01/21/2010 |
| Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay. | X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy.
Fernandez-Moreira D, Ugalde C, Smeets R, Rodenburg RJ, Lopez-Laso E, Ruiz-Falco ML, Briones P, Martin MA, Smeitink JA, Arenas J. | 01/21/2010 |
| Species-specific and mutant MWFE proteins effect on the assembly of a functional mammalian mitochondrial complex I. | Species-specific and mutant MWFE proteins. Their effect on the assembly of a functional mammalian mitochondrial complex I.
Yadava N, Potluri P, Smith EN, Bisevac A, Scheffler IE. | 01/21/2010 |
| Suppression of NDUFA1 expression could represent a key pathogenic mechanism in the development of basal cell carcinoma | Downregulation of NDUFA1 and other oxidative phosphorylation-related genes is a consistent feature of basal cell carcinoma.
Mamelak AJ, Kowalski J, Murphy K, Yadava N, Zahurak M, Kouba DJ, Howell BG, Tzu J, Cummins DL, Liégeois NJ, Berg K, Sauder DN. | 01/21/2010 |