Zobrazeno 1 - 10
of 116
pro vyhledávání: '"Leo G.J. Nijtmans"'
Autor:
Leo G.J. Nijtmans, Mariël A.M. van den Brand, Jori A. L. Wagenaars, Leonid A. Sazanov, Werner J.H. Koopman, Jan A.M. Smeitink, Merel J. W. Adjobo-Hermans, Sjenet E. van Emst-de Vries, Mariusz R. Wieckowski, Richard J. Rodenburg, Peter H.G.M. Willems, Aleksandra Wojtala, Ria de Haas
Publikováno v:
Biochimica et Biophysica Acta. Bioenergetics, 1861
Biochimica et Biophysica Acta. Bioenergetics, 1861, 8
Biochimica et Biophysica Acta. Bioenergetics, 1861, 8
Mutations in NDUFS4, which encodes an accessory subunit of mitochondrial oxidative phosphorylation (OXPHOS) complex I (CI), induce Leigh syndrome (LS). LS is a poorly understood pediatric disorder featuring brain-specific anomalies and early death. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbeb3235af78648702b370eecd47a8b4
https://hdl.handle.net/2066/220251
https://hdl.handle.net/2066/220251
Autor:
Sunnie Wong, Pascale de Lonlay, Sergio Guerrero-Castillo, Thatjana Gardeitchik, Arjan P.M. de Brouwer, Daisy Dalloyaux, Richard J. Rodenburg, Sabine Scholl-Buergi, Ulrich Brandt, Daniela Karall, Wolfgang Sperl, Alexander Hoischen, David F.G.J. Wolthuis, Ellyze van Asbeck, Metodi D. Metodiev, Eva Morava, Leo G.J. Nijtmans, Zsolt Urban, Benedetta Ruzzenente, Ron A. Wevers, Zahra Assouline, Miski Mohamed, Marlène Rio, Sanne van Kraaij, Arnold Munnich, Johannes A. Mayr, Mariël A.M. van den Brand, Agnès Rötig
Publikováno v:
American Journal of Human Genetics, 102, 685-695
American Journal of Human Genetics, 102, 4, pp. 685-695
American Journal of Human Genetics, 102, 4, pp. 685-695
Biogenesis of the mitochondrial oxidative phosphorylation system, which produces the bulk of ATP for almost all eukaryotic cells, depends on the translation of 13 mtDNA-encoded polypeptides by mitochondria-specific ribosomes in the mitochondrial matr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86728575fd419f9bdd046ded25d7f465
https://doi.org/10.1016/j.ajhg.2018.02.012
https://doi.org/10.1016/j.ajhg.2018.02.012
Autor:
Jan A.M. Smeitink, I.F.M. de Coo, Laura Sánchez-Caballero, Richard J. Rodenburg, Leo G.J. Nijtmans, Fabian Baertling, M.A.M. van den Brand, Virginia Wong, Cheuk-Wing Fung, Debby M.E.I. Hellebrekers, Sophelia H. S. Chan
Publikováno v:
Clinical Genetics. 93:111-118
Mitochondrial respiratory chain complex I consists of 44 different subunits and contains 3 functional modules: the Q-, the N- and the P-module. NDUFA9 is a Q-module subunit required for complex I assembly or stability. However, its role in complex I
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b930656822b9f7c9b35ea1f127b19744
https://doi.org/10.1111/cge.13089
https://doi.org/10.1111/cge.13089
Publikováno v:
eLS
The underlying mutations in nuclear genes that directly affect the mitochondrial oxidative phosphorylation system are now known. Advances in this area have profited from progress in various genome projects. Keywords: mitochondria; respiratory chain;
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2b0d01595759021c302d33fb9eb6f79
https://doi.org/10.1002/9780470015902.a0006029.pub3
https://doi.org/10.1002/9780470015902.a0006029.pub3
Autor:
Hanka Venselaar, Richard J. Rodenburg, Mariël A.M. van den Brand, Fabian Baertling, Laura Sánchez-Caballero, Khalfan S. Al-Senaidi, Fathiya Al-Murshedi, Leo G.J. Nijtmans, Niranjan Joshi
Publikováno v:
Human Mutation. 38:692-703
COX5A is a nuclear-encoded subunit of mitochondrial respiratory chain complex IV (cytochrome c oxidase). We present patients with a homozygous pathogenic variant in the COX5A gene. Clinical details of two affected siblings suffering from early-onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db2bb8422756cb2cc5ad05cbcad07760
https://doi.org/10.1002/humu.23210
https://doi.org/10.1002/humu.23210
Autor:
Laura Mamblona, Luis Vazquez-Fonseca, Cristina González-Páramos, Miguel Ángel Fernández-Moreno, Sara Palacios-Zambrano, Leo G.J. Nijtmans, Laura Sánchez-Caballero, Rafael Garesse
Mitochondria are essential organelles present in the vast majority of eukaryotic cells. Their central function is to produce cellular energy through the OXPHOS system, and functional alterations provoke so-called mitochondrial OXPHOS diseases. It is
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be00b3abb830c4e50c2de61850b18e57
Autor:
Sjenet E. van Emst-de Vries, Werner J.H. Koopman, Sjoerd Verkaart, Lambertus W.P.J. van den Heuvel, Jan A.M. Smeitink, Peter H.G.M. Willems, Leo G.J. Nijtmans
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1867:166015
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::29a5f75ca1760d81ad884e1fe4909d1c
https://doi.org/10.1016/j.bbadis.2020.166015
https://doi.org/10.1016/j.bbadis.2020.166015
Autor:
Mariël A.M. van den Brand, Ulrich Brandt, Leo G.J. Nijtmans, Fabian Baertling, Joeri van Strien, Sergio Guerrero-Castillo, Martijn A. Huynen, Laura Sánchez-Caballero, Richard J. Rodenburg, Dei M. Elurbe, Teunis J. P. van Dam
Publikováno v:
Biochimica et Biophysica Acta. Bioenergetics, 1861, 8
Biochimica et Biophysica Acta. Bioenergetics, 1861
Biochimica et Biophysica Acta. Bioenergetics, 1861
Protein complexes from the oxidative phosphorylation (OXPHOS) system are assembled with the help of proteins called assembly factors. We here delineate the function of the inner mitochondrial membrane protein TMEM70, in which mutations have been link
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf8abd29e83bb2ac36ec1c3996ee3fc1
https://doi.org/10.1016/j.bbabio.2020.148202
https://doi.org/10.1016/j.bbabio.2020.148202
Autor:
Ertan Mayatepek, Richard J. Rodenburg, Felix Distelmaier, Fabian Baertling, Jan A.M. Smeitink, Leo G.J. Nijtmans, Mariël A.M. van den Brand, Lambert P. van den Heuvel, Jozef Hertecant, Aisha M. Al-Shamsi
Publikováno v:
Human Mutation, 36, 1, pp. 34-8
Human Mutation, 36, 34-8
Human Mutation, 36, 34-8
Contains fulltext : 153452.pdf (Publisher’s version ) (Closed access) COA6/C1ORF31 is involved in cytochrome c oxidase (complex IV) biogenesis. We present a new pathogenic COA6 variant detected in a patient with neonatal hypertrophic cardiomyopathy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3690169200a09a0e0d91353c3b3d8f0a
https://doi.org/10.1002/humu.22715
https://doi.org/10.1002/humu.22715
Autor:
Fabian Baertling, Richard J. Rodenburg, Mariël A.M. van den Brand, Felix Distelmaier, Jan A.M. Smeitink, Mirian C. H. Janssen, Laura Sánchez-Caballero, Leo G.J. Nijtmans
Publikováno v:
Journal of Pediatrics, 196, 309-313.e3
Journal of Pediatrics, 196, pp. 309-313.e3
Journal of Pediatrics, 196, pp. 309-313.e3
We demonstrate that a heterozygous nuclear variant in the gene encoding mitochondrial complex I subunit NDUFV1 aggravates the cellular phenotype in the presence of a mitochondrial DNA variant in complex I subunit ND1. Our findings suggest that hetero
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5258bd2cc3b194495e8a9df97742884c
https://pubmed.ncbi.nlm.nih.gov/29395179
https://pubmed.ncbi.nlm.nih.gov/29395179