1 - 25 of 26 results for author:"Nijtmans L.G." in Literature citations
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| Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Wortmann S.B., Vaz F.M., Gardeitchik T., Vissers L.E., Renkema G.H., Schuurs-Hoeijmakers J.H., Kulik W., Lammens M., Christin C., Kluijtmans L.A. et al. |
| Impaired ubiquitin-proteasome-mediated PGC-1alpha protein turnover and induced mitochondrial biogenesis secondary to complex-I deficiency. Farhoud M.H., Nijtmans L.G., Wanders R.J., Wessels H.J., Lasonder E., Janssen A.J., Rodenburg R.R., van den Heuvel L.P., Smeitink J.A. Proteomics 12:1349-1362(2012) · Mapped (10) |
| Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts. Valsecchi F., Monge C., Forkink M., de Groof A.J., Benard G., Rossignol R., Swarts H.G., van Emst-de Vries S.E., Rodenburg R.J., Calvaruso M.A. et al. Biochim. Biophys. Acta 1817:1925-1936(2012) · Mapped (4) |
| Identification and functional analysis of mitochondrial complex I assembly factor homologues in C. elegans. van den Ecker D., van den Brand M.A., Ariaans G., Hoffmann M., Bossinger O., Mayatepek E., Nijtmans L.G., Distelmaier F. Mitochondrion 12:399-405(2012) · Mapped (4) |
| Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase. Szklarczyk R., Wanschers B.F., Cuypers T.D., Esseling J.J., Riemersma M., van den Brand M.A., Gloerich J., Lasonder E., van den Heuvel L.P., Nijtmans L.G. et al. Genome Biol. 13:RESEARCH0012.1-RESEARCH0012.14(2012) · UniProtKB (9) · Mapped (6) |
| C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation. Wanschers B.F., Szklarczyk R., Pajak A., van den Brand M.A., Gloerich J., Rodenburg R.J., Lightowlers R.N., Nijtmans L.G., Huynen M.A. Nucleic Acids Res. 40:4040-4051(2012) · UniProtKB (1) |
| A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome. Ngu L.H., Nijtmans L.G., Distelmaier F., Venselaar H., van Emst-de Vries S.E., van den Brand M.A., Stoltenborg B.J., Wintjes L.T., Willems P.H., van den Heuvel L.P. et al. Biochim. Biophys. Acta 1822:168-175(2012) · Mapped (7) |
| A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy. Huigsloot M., Nijtmans L.G., Szklarczyk R., Baars M.J., van den Brand M.A., Hendriksfranssen M.G., van den Heuvel L.P., Smeitink J.A., Huynen M.A., Rodenburg R.J. Am. J. Hum. Genet. 88:488-493(2011) · UniProtKB (1) · Mapped (6) |
| NDUFB7 and NDUFA8 are located at the intermembrane surface of complex I. Szklarczyk R., Wanschers B.F., Nabuurs S.B., Nouws J., Nijtmans L.G., Huynen M.A. |
| TEFM (c17orf42) is necessary for transcription of human mtDNA. Minczuk M., He J., Duch A.M., Ettema T.J., Chlebowski A., Dzionek K., Nijtmans L.G., Huynen M.A., Holt I.J. Nucleic Acids Res. 39:4284-4299(2011) · UniProtKB (2) · Mapped (1) |
| Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies. Hoefs S.J., Skjeldal O.H., Rodenburg R.J., Nedregaard B., van Kaauwen E.P., Spiekerkotter U., von Kleist-Retzow J.C., Smeitink J.A., Nijtmans L.G., van den Heuvel L.P. Mol. Genet. Metab. 100:251-256(2010) · Mapped (4) |
| Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. Saada A., Vogel R.O., Hoefs S.J., van den Brand M.A., Wessels H.J., Willems P.H., Venselaar H., Shaag A., Barghuti F., Reish O. et al. Am. J. Hum. Genet. 84:718-727(2009) · UniProtKB (4) |
| Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency. Hoefs S.J., Dieteren C.E., Rodenburg R.J., Naess K., Bruhn H., Wibom R., Wagena E., Willems P.H., Smeitink J.A., Nijtmans L.G. et al. Hum. Mutat. 30:E728-36(2009) · Mapped (1) |
| Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. Pello R., Martin M.A., Carelli V., Nijtmans L.G., Achilli A., Pala M., Torroni A., Gomez-Duran A., Ruiz-Pesini E., Martinuzzi A. et al. Hum. Mol. Genet. 17:4001-4011(2008) · UniProtKB (37) |
| Mitigation of NADH: ubiquinone oxidoreductase deficiency by chronic Trolox treatment. Koopman W.J., Verkaart S., van Emst-de Vries S.E., Grefte S., Smeitink J.A., Nijtmans L.G., Willems P.H. Biochim. Biophys. Acta 1777:853-859(2008) · Mapped (9) |
| Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients. Vogel R.O., van den Brand M.A., Rodenburg R.J., van den Heuvel L.P., Tsuneoka M., Smeitink J.A., Nijtmans L.G. Mol. Genet. Metab. 91:176-182(2007) · Mapped (2) |
| Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. Vogel R.O., Janssen R.J.R.J., van den Brand M.A.M., Dieteren C.E.J., Verkaart S., Koopman W.J.H., Willems P.H.G.M., Pluk W., van den Heuvel L.P.W.J., Smeitink J.A.M. et al. |
| Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits. Vogel R.O., Dieteren C.E., van den Heuvel L.P., Willems P.H., Smeitink J.A., Koopman W.J., Nijtmans L.G. J. Biol. Chem. 282:7582-7590(2007) |
| Human mitochondrial complex I assembly is mediated by NDUFAF1. Vogel R.O., Janssen R.J., Ugalde C., Grovenstein M., Huijbens R.J., Visch H.J., van den Heuvel L.P., Willems P.H., Zeviani M., Smeitink J.A. et al. FEBS J. 272:5317-5326(2005) · Mapped (1) |
| A mitochondrial cytochrome b mutation causing severe respiratory chain enzyme deficiency in humans and yeast. Blakely E.L., Mitchell A.L., Fisher N., Meunier B., Nijtmans L.G., Schaefer A.M., Jackson M.J., Turnbull D.M., Taylor R.W. FEBS J. 272:3583-3592(2005) · Mapped (1) |
| Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. Coenen M.J., van den Heuvel L.P., Ugalde C., Ten Brinke M., Nijtmans L.G., Trijbels F.J., Beblo S., Maier E.M., Muntau A.C., Smeitink J.A. Ann. Neurol. 56:560-564(2004) · Mapped (3) |
| Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ugalde C., Triepels R.H., Coenen M.J., van den Heuvel L.P., Smeets R., Uusimaa J., Briones P., Campistol J., Majamaa K., Smeitink J.A. et al. Ann. Neurol. 54:665-669(2003) · UniProtKB (1) |
| The mitochondrial prohibitin complex is essential for embryonic viability and germline function in Caenorhabditis elegans. Artal-Sanz M., Tsang W.Y., Willems E.M., Grivell L.A., Lemire B.D., van der Spek H., Nijtmans L.G., Sanz M.A. J. Biol. Chem. 278:32091-32099(2003) · UniProtKB (2) · Mapped (3) |
| A structure for the yeast prohibitin complex: structure prediction and evidence from chemical crosslinking and mass spectrometry. Back J.W., Artal-Sanz M., De Jong L., De Koning L.J., Nijtmans L.G.J., De Koster C.G., Grivell L.A., Van Der Spek H., Muijsers A.O. Protein Sci. 11:2471-2478(2002) · UniProtKB (2) |
| Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast. Nijtmans L.G., Artal Sanz M., Bucko M., Farhoud M.H., Feenstra M., Hakkaart G.A., Zeviani M., Grivell L.A. FEBS Lett. 498:46-51(2001) · Mapped (5) |