1 - 25 of 55 results for author:"van den Heuvel L.P." in Literature citations
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| Atypical hemolytic uremic syndrome and genetic aberrations in the complement factor H-related 5 gene. Westra D., Vernon K.A., Volokhina E.B., Pickering M.C., van de Kar N.C., van den Heuvel L.P. J. Hum. Genet. 57:459-464(2012) · UniProtKB (1) · Mapped (3) |
| 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) |
| Polycystin-1 and polycystin-2 are both required to amplify inositol-trisphosphate-induced Ca2+ release. Mekahli D., Sammels E., Luyten T., Welkenhuyzen K., van den Heuvel L.P., Levtchenko E.N., Gijsbers R., Bultynck G., Parys J.B., De Smedt H. et al. Cell Calcium 51:452-458(2012) · Mapped (10) |
| 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) |
| 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) |
| Evolution of a new enzyme for carbon disulphide conversion by an acidothermophilic archaeon. Smeulders M.J., Barends T.R., Pol A., Scherer A., Zandvoort M.H., Udvarhelyi A., Khadem A.F., Menzel A., Hermans J., Shoeman R.L. et al. Nature 478:412-416(2011) · UniProtKB (2) |
| Restoration of complex V deficiency caused by a novel deletion in the human TMEM70 gene normalizes mitochondrial morphology. Jonckheere A.I., Huigsloot M., Lammens M., Jansen J., van den Heuvel L.P., Spiekerkoetter U., von Kleist-Retzow J.C., Forkink M., Koopman W.J., Szklarczyk R. et al. Mitochondrion 11:954-963(2011) · Mapped (2) |
| 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) |
| 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) |
| Analysis of CTNS gene transcripts in nephropathic cystinosis. Taranta A., Wilmer M.J., van den Heuvel L.P., Bencivenga P., Bellomo F., Levtchenko E.N., Emma F. Pediatr. Nephrol. 25:1263-1267(2010) · Mapped (4) |
| Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. O'Toole J.F., Liu Y., Davis E.E., Westlake C.J., Attanasio M., Otto E.A., Seelow D., Nurnberg G., Becker C., Nuutinen M. et al. J. Clin. Invest. 120:791-802(2010) · UniProtKB (3) · Mapped (22) |
| A familial disorder with low bone density and renal phosphate wasting. Grondel I.M., van der Deure J., Zanen A.L., Dogger M., van den Heuvel L.P. Eur. J. Intern. Med. 20:503-508(2009) · Mapped (2) |
| 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) |
| Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note. de Vries M.C., Rodenburg R.J., Morava E., Lammens M., van den Heuvel L.P., Korenke G.C., Smeitink J.A. J. Inherit. Metab. Dis. 31 Suppl 2:S299-302(2008) · Mapped (7) |
| Identification and subcellular localization of a new cystinosin isoform. Taranta A., Petrini S., Palma A., Mannucci L., Wilmer M.J., De Luca V., Diomedi-Camassei F., Corallini S., Bellomo F., van den Heuvel L.P. et al. Am. J. Physiol. Renal Physiol. 294:F1101-8(2008) · Mapped (26) |
| Syndecan-1 deficiency aggravates anti-glomerular basement membrane nephritis. Rops A.L., Gotte M., Baselmans M.H., van den Hoven M.J., Steenbergen E.J., Lensen J.F., Wijnhoven T.J., Cevikbas F., van den Heuvel L.P., van Kuppevelt T.H. et al. Kidney Int. 72:1204-1215(2007) · Mapped (4) |
| Focal segmental glomerulosclerosis in a patient homozygous for a CD2AP mutation. Lowik M.M., Groenen P.J., Pronk I., Lilien M.R., Goldschmeding R., Dijkman H.B., Levtchenko E.N., Monnens L.A., van den Heuvel L.P. Kidney Int. 72:1198-1203(2007) · Mapped (1) |
| Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. Groenestege W.M.T., Thebault S., van der Wijst J., van den Berg D., Janssen R., Tejpar S., van den Heuvel L.P., van Cutsem E., Hoenderop J.G., Knoers N.V. et al. J. Clin. Invest. 117:2260-2267(2007) · UniProtKB (2) · Mapped (3) |
| Reconstructing the evolution of the mitochondrial ribosomal proteome. Smits P., Smeitink J.A., van den Heuvel L.P., Huynen M.A., Ettema T.J. Nucleic Acids Res. 35:4686-4703(2007) · Mapped (79) |
| 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) |
| Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations. de Vries M.C., Rodenburg R.J., Morava E., van Kaauwen E.P., ter Laak H., Mullaart R.A., Snoeck I.N., van Hasselt P.M., Harding P., van den Heuvel L.P. et al. Eur. J. Pediatr. 166:229-234(2007) · Mapped (7) |
| Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblasts. Levtchenko E.N., Wilmer M.J., Janssen A.J., Koenderink J.B., Visch H.J., Willems P.H., de Graaf-Hess A., Blom H.J., van den Heuvel L.P., Monnens L.A. Pediatr. Res. 59:287-292(2006) |