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

Por Smits, Paulien, Smeitink, Jan, van den Heuvel, Lambert
Publicado em 2010

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

Por Schophuizen, Carolien M. S., Hoenderop, Joost G. J., Masereeuw, Rosalinde, van den Heuvel, Lambert P.
Publicado no Cells (2015)

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

Por Volokhina, Elena, Westra, Dineke, Xue, Xiaoguang, Gros, Piet, van de Kar, Nicole, van den Heuvel, Lambert
Publicado em 2012

Whole exome sequencing of suspected mitochondrial patients in clinical practice

Por Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.
Publicado no J Inherit Metab Dis (2015)

Reconstructing the evolution of the mitochondrial ribosomal proteome

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

Analysis of CTNS gene transcripts in nephropathic cystinosis

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

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

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

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

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

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

Por 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.
Publicado em 1999

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

Por 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.
Publicado em 2011

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

Por 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
Publicado em 2011

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

Por 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
Publicado em 2011

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

Por 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
Publicado em 2010

Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy

Por Smits, Paulien, Saada, Ann, Wortmann, Saskia B, Heister, Angelien J, Brink, Maaike, Pfundt, Rolph, Miller, Chaya, Haas, Dorothea, Hantschmann, Ralph, Rodenburg, Richard J T, Smeitink, Jan A M, van den Heuvel, Lambert P
Publicado em 2011

Characterization of anticoagulant heparinoids by immunoprofiling

Por Wijnhoven, Tessa J., van de Westerlo, Els M., Smits, Nicole C., Lensen, Joost F., Rops, Angelique L., van der Vlag, Johan, Berden, Jo H., van den Heuvel, Lambert P., van Kuppevelt, Toin H.
Publicado em 2007

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 oxidas...

Por Szklarczyk, Radek, Wanschers, Bas FJ, Cuypers, Thomas D, Esseling, John J, Riemersma, Moniek, van den Brand, Mariël AM, Gloerich, Jolein, Lasonder, Edwin, van den Heuvel, Lambert P, Nijtmans, Leo G, Huynen, Martijn A
Publicado em 2012

Analysis of 953 Human Proteins from a Mitochondrial HEK293 Fraction by Complexome Profiling

Por Wessels, Hans J. C. T., Vogel, Rutger O., Lightowlers, Robert N., Spelbrink, Johannes N., Rodenburg, Richard J., van den Heuvel, Lambert P., van Gool, Alain J., Gloerich, Jolein, Smeitink, Jan A. M., Nijtmans, Leo G.
Publicado em 2013

SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors

Por Renkema, G Herma, Wortmann, Saskia B, Smeets, Roel J, Venselaar, Hanka, Antoine, Marion, Visser, Gepke, Ben-Omran, Tawfeg, van den Heuvel, Lambert P, Timmers, Henri J L M, Smeitink, Jan A, Rodenburg, Richard J T
Publicado no Eur J Hum Genet (2015)

Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

Por Hartmann, Bianca, Wai, Timothy, Hu, Hao, MacVicar, Thomas, Musante, Luciana, Fischer-Zirnsak, Björn, Stenzel, Werner, Gräf, Ralph, van den Heuvel, Lambert, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Langer, Thomas, Kaindl, Angela M
Publicado no eLife (2016)

Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins

Por Schwab, Marina A., Sauer, Sven W., Okun, Jürgen G., Nijtmans, Leo G. J., Rodenburg, Richard J. T., van den Heuvel, Lambert P., Dröse, Stefan, Brandt, Ulrich, Hoffmann, Georg F., Ter Laak, Henk, Kölker, Stefan, Smeitink, Jan A. M.
Publicado em 2006