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Full TextIssue DateTitleAuthor(s)
2011New gene defects for human complex I deficiency.Hoefs, S.J.G.
2011NDUFA10 mutations cause complex I deficiency in a patient with Leigh diseaseHoefs, S.J.G.; Spronsen, F.J. van; Lenssen, E.W.H.; Nijtmans, L.G.J.; Rodenburg, R.J.T.; Smeitink, J.A.M.; van den Heuvel, L.P.
2010Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies.Hoefs, S.J.G.; Skjeldal, O.H.; Rodenburg, R.J.T.; Nedregaard, B.; Kaauwen, E. van; Spiekerkotter, U.; Kleist-Retzow, J.C. von; Smeitink, J.A.M.; Nijtmans, L.G.J.; Heuvel, L.P.W.J. van den
2010Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I.Nouws, J.; Nijtmans, L.G.J.; Houten, S.M.; Brand, M. van den; Huijnen, M.A.; Venselaar, H.; Hoefs, S.J.G.; Gloerich, J.; Kronick, J.; Hutchin, T.; Willems, P.H.G.M.; Rodenburg, R.J.T.; Wanders, R.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.; Vogel, R.O.
2009Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency.Hoefs, S.J.G.; Dieteren, C.E.J.; Rodenburg, R.J.T.; Naess, K.; Bruhn, H.; Wibom, R.; Wagena, E.; Willems, P.H.G.M.; Smeitink, J.A.M.; Nijtmans, L.G.J.; Heuvel, L.P.W.J. van den
2009Mutations 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.G.; Brand, M.A.M. van den; Wessels, H.J.; Willems, P.H.G.M.; Venselaar, H.; Shaag, A.; Barghuti, F.; Reish, O.; Shohat, M.; Huijnen, M.A.; Smeitink, J.A.M.; Heuvel, L.P.W.J. van den; Nijtmans, L.G.J.
2005The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel.Chang, Q.; Hoefs, S.J.G.; Kemp, J.W.C.M. van der; Topala, C.N.; Bindels, R.J.M.; Hoenderop, J.G.J.
2005The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel.Chang, Q.; Hoefs, S.J.G.; Kemp, J.W.C.M. van der; Topala, C.N.; Bindels, R.J.M.; Hoenderop, J.G.J.
2004TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption.Voets, T.; Nilius, B.; Hoefs, S.J.G.; Kemp, J.W.C.M. van der; Droogmans, G.; Bindels, R.J.M.; Hoenderop, J.G.J.
2004Molecular determinants in TRPV5 channel assembly.Chang, Q.; Gyftogianni, E.; Graaf, K.F.J. van de; Hoefs, S.J.G.; Weidema, A.F.; Bindels, R.J.M.; Hoenderop, J.G.J.
2004TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption.Voets, T.; Nilius, B.; Hoefs, S.J.G.; Kemp, J.W.C.M. van der; Droogmans, G.; Bindels, R.J.M.; Hoenderop, J.G.J.
2004Molecular determinants in TRPV5 channel assembly.Chang, Q.; Gyftogianni, E.; Graaf, K.F.J. van de; Hoefs, S.J.G.; Weidema, A.F.; Bindels, R.J.M.; Hoenderop, J.G.J.
2003The carboxyl terminus of the epithelial Ca(2+) channel ECaC1 is involved in Ca(2+)-dependent inactivation.Nilius, B.; Weidema, A.F.; Prenen, J.; Hoenderop, J.G.J.; Vennekens, R.; Hoefs, S.J.G.; Droogmans, G.; Bindels, R.J.M.
2003Homo- and heterotetrameric architecture of the epithelial Ca2+ channels TRPV5 and TRPV6.Hoenderop, J.G.J.; Voets, T.; Hoefs, S.J.G.; Weidema, A.F.; Prenen, J.; Nilius, B.; Bindels, R.J.M.
2002Fast and slow inactivation kinetics of the Ca2+ channels ECaC1 and ECaC2 (TRPV5 and TRPV6). Role of the intracellular loop located between transmembrane segments 2 and 3.Nilius, B.; Prenen, J.; Hoenderop, J.G.J.; Vennekens, R.; Hoefs, S.J.G.; Weidema, A.F.; Droogmans, G.; Bindels, R.J.M.

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