Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies

von Smits, Paulien, Smeitink, Jan, van den Heuvel, Lambert
Veröffentlicht 2010

Microbial proteinase inside human cells as anti-mitochondrial activity: A new virulence factor in infectious diseases?

von Bongaerts, Ger P.A., van den Heuvel, Lambert P.
Veröffentlicht in Med Hypotheses (2008)

Uremic Toxins Induce ET-1 Release by Human Proximal Tubule Cells, which Regulates Organic Cation Uptake Time-Dependently

von Schophuizen, Carolien M. S., Hoenderop, Joost G. J., Masereeuw, Rosalinde, van den Heuvel, Lambert P.
Veröffentlicht in Cells (2015)

Novel C3 mutation p.Lys65Gln in aHUS affects complement factor H binding

von Volokhina, Elena, Westra, Dineke, Xue, Xiaoguang, Gros, Piet, van de Kar, Nicole, van den Heuvel, Lambert
Veröffentlicht 2012

Whole exome sequencing of suspected mitochondrial patients in clinical practice

von Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.
Veröffentlicht in J Inherit Metab Dis (2015)

Reconstructing the evolution of the mitochondrial ribosomal proteome

von Smits, Paulien, Smeitink, Jan A. M., van den Heuvel, Lambert P., Huynen, Martijn A., Ettema, Thijs J. G.
Veröffentlicht 2007

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

von Papizh, Svetlana, Serzhanova, Victoria, Filatova, Alexandra, Skoblov, Mikhail, Tabakov, Vyacheslav, van den Heuvel, Lambert, Levtchenko, Elena, Prikhodina, Larisa
Veröffentlicht in BMC Nephrol (2019)

Analysis of CTNS gene transcripts in nephropathic cystinosis

von Taranta, Anna, Wilmer, Martijn J., van den Heuvel, Lambert P., Bencivenga, Paola, Bellomo, Francesco, Levtchenko, Elena N., Emma, Francesco
Veröffentlicht 2010

Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation

von de Laat, Paul, Koene, Saskia, van den Heuvel, Lambert P. W. J., Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.
Veröffentlicht 2012

ATYPICAL HEMOLYTIC UREMIC SYNDROME AND GENETIC ABERRATIONS IN THE COMPLEMENT FACTOR H RELATED 5 GENE

von Westra, Dineke, Vernon, Katherine A., Volokhina, Elena B., Pickering, Matthew C., van de Kar, Nicole C.A.J., van den Heuvel, Lambert P.
Veröffentlicht 2012

The genetics of atypical hemolytic uremic syndrome

von Feitz, Wouter J. C., van de Kar, Nicole C. A. J., Orth-Höller, Dorothea, van den Heuvel, Lambert P. J. W., Licht, Christoph
Veröffentlicht in Med Genet (2018)

Severe Form of ßIV-Spectrin Deficiency With Mitochondrial Dysfunction and Cardiomyopathy—A Case Report

von Belkheir, Aziza Miriam, Reunert, Janine, Elpers, Christiane, van den Heuvel, Lambert, Rodenburg, Richard, Seelhöfer, Anja, Rust, Stephan, Jeibmann, Astrid, Frosch, Michael, Marquardt, Thorsten
Veröffentlicht in Front Neurol (2021)

Therapeutic concentrations of calcineurin inhibitors do not deregulate glutathione redox balance in human renal proximal tubule cells

von Ramazani, Yasaman, Knops, Noël, Berlingerio, Sante Princiero, Adebayo, Oyindamola Christiana, Lismont, Celien, Kuypers, Dirk J., Levtchenko, Elena, van den Heuvel, Lambert P., Fransen, Marc
Veröffentlicht in PLoS One (2021)

Agrin Is a Major Heparan Sulfate Proteoglycan Accumulating in Alzheimer’s Disease Brain

von Verbeek, Marcel M., Otte-Höller, Irene, van den Born, Jacob, van den Heuvel, Lambert P. W. J., David, Guido, Wesseling, Pieter, de Waal, Robert M. W.
Veröffentlicht 1999

Genetic basis of cystinosis in Turkish patients: a single-center experience

von Topaloglu, Rezan, Vilboux, Thierry, Coskun, Turgay, Ozaltin, Fatih, Tinloy, Brad, Gunay-Aygun, Meral, Bakkaloglu, Aysin, Besbas, Nesrin, van den Heuvel, Lambert, Kleta, Robert, Gahl, William A.
Veröffentlicht 2011

Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

von Barbosa-Gouveia, Sofia, González-Vioque, Emiliano, Borges, Filipa, Gutiérrez-Solana, Luis, Wintjes, Liesbeth, Kappen, Antonia, van den Heuvel, Lambert, Leis, Rosaura, Rodenburg, Richard, Couce, María Luz
Veröffentlicht in J Clin Med (2019)

NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

von Hoefs, Saskia J G, van Spronsen, Francjan J, Lenssen, Ellen W H, Nijtmans, Leo G, Rodenburg, Richard J, Smeitink, Jan A M, van den Heuvel, Lambert P
Veröffentlicht 2011

Mutation in subdomain G' of mitochondrial elongation factor G1 is associated with combined OXPHOS deficiency in fibroblasts but not in muscle

von Smits, Paulien, Antonicka, Hana, van Hasselt, Peter M, Weraarpachai, Woranontee, Haller, Wolfram, Schreurs, Marieke, Venselaar, Hanka, Rodenburg, Richard J, Smeitink, Jan A, van den Heuvel, Lambert P
Veröffentlicht 2011

Functional consequences of mitochondrial tRNA(Trp) and tRNA(Arg) mutations causing combined OXPHOS defects

von Smits, Paulien, Mattijssen, Sandy, Morava, Eva, van den Brand, Mariël, van den Brandt, Frans, Wijburg, Frits, Pruijn, Ger, Smeitink, Jan, Nijtmans, Leo, Rodenburg, Richard, van den Heuvel, Lambert
Veröffentlicht 2010

Cell Biological Responses after Shiga Toxin-1 Exposure to Primary Human Glomerular Microvascular Endothelial Cells from Pediatric and Adult Origin

von Feitz, Wouter J. C., van Setten, Petra A., van der Velden, Thea J. A. M., Licht, Christoph, van den Heuvel, Lambert P. J. W., van de Kar, Nicole C. A. J.
Veröffentlicht in Int J Mol Sci (2021)