| Expanding the Spectrum of NUBPL-Related Leukodystrophy. | Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D, Zambon AA, Ghezzi D, Lamantea E, Izzo R, Parazzini C, Baldoli C, van der Knaap MS, Fumagalli F. | 05/12/2023 |
| NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. | NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
Kimonis V, Al Dubaisi R, Maclean AE, Hall K, Weiss L, Stover AE, Schwartz PH, Berg B, Cheng C, Parikh S, Conner BR, Wu S, Hasso AN, Scott DA, Koenig MK, Karam R, Tang S, Smith M, Chao E, Balk J, Hatchwell E, Eis PS. | 03/19/2022 |
| Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement. | Novel compound heterozygous pathogenic variants in nucleotide-binding protein like protein (NUBPL) cause leukoencephalopathy with multi-systemic involvement.
Protasoni M, Bruno C, Donati MA, Mohamoud K, Severino M, Allegri A, Robinson AJ, Reyes A, Zeviani M, Garone C. | 11/21/2020 |
| Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy. | Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.
Balint B, Charlesworth G, Stamelou M, Carr L, Mencacci NE, Wood NW, Bhatia KP., Free PMC Article | 09/19/2020 |
| 5 missense variants in NUBPL gene were compared. The resulting NUBPL/Ind1 protein variants were tested in Yarrowia lipolytica for protein stability and complex I levels, oxidoreductase activity and assembly intermediates. 4 missense mutations are pathogenic, and mutants are sensitive to low temperature. | Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.
Maclean AE, Kimonis VE, Balk J., Free PMC Article | 04/27/2019 |
| huInd1 binds to the untranslated region of the TEM-1 mRNA at 3' site and thereby reducing the possibility of its endonucleolytic cleavage, resulting in over-expression of TEM-1. | Human Ind1 expression causes over-expression of E. coli beta-lactamase ampicillin resistance protein.
Chakrabarti VS, Mikolajczyk M, Boscaro F, Calderone V. | 01/27/2018 |
| Inhibition of ERK suppressed the NUBPL-induced changes in EMT and cell motility. | NUBPL, a novel metastasis-related gene, promotes colorectal carcinoma cell motility by inducing epithelial-mesenchymal transition.
Wang Y, Wu N, Sun D, Sun H, Tong D, Liu D, Pang B, Li S, Wei J, Dai J, Liu Y, Bai J, Geng J, Fu S, Jin Y., Free PMC Article | 09/16/2017 |
| Our data show that NUBPL mutations are associated with a unique, consistent, and recognizable MRI pattern. | NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
Kevelam SH, Rodenburg RJ, Wolf NI, Ferreira P, Lunsing RJ, Nijtmans LG, Mitchell A, Arroyo HA, Rating D, Vanderver A, van Berkel CG, Abbink TE, Heutink P, van der Knaap MS., Free PMC Article | 06/15/2013 |
| Observational study and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Genome-wide association study of antipsychotic-induced QTc interval prolongation.
Aberg K, Adkins DE, Liu Y, McClay JL, Bukszár J, Jia P, Zhao Z, Perkins D, Stroup TS, Lieberman JA, Sullivan PF, van den Oord EJ., Free PMC Article | 12/5/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Genetic 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., Free PMC Article | 12/5/2010 |
| Mutations in NUBPL is associated with complex I deficiency. | High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
Calvo SE, Tucker EJ, Compton AG, Kirby DM, Crawford G, Burtt NP, Rivas M, Guiducci C, Bruno DL, Goldberger OA, Redman MC, Wiltshire E, Wilson CJ, Altshuler D, Gabriel SB, Daly MJ, Thorburn DR, Mootha VK., Free PMC Article | 10/30/2010 |
| 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.[Ind1] | Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I.
Sheftel AD, Stehling O, Pierik AJ, Netz DJ, Kerscher S, Elsässer HP, Wittig I, Balk J, Brandt U, Lill R., Free PMC Article | 01/25/2010 |