A novel experimental approach for the selective isolation and characterization of human RNase MRP

Autor: Merel Derksen, Vicky Mertens, Eline A. Visser, Janine Arts, Wilma Vree Egberts, Ger J. M. Pruijn

Publikováno v: RNA Biology, Vol 19, Iss 1, Pp 305-312 (2022)

RNase MRP is a ribonucleoprotein complex involved in the endoribonucleolytic cleavage of different RNAs. Mutations in the RNA component of the RNP are the cause of cartilage hair hypoplasia. Patients with cartilage hair hypoplasia are characterized b

Externí odkaz: https://doaj.org/article/1ef8102a5f35469ebbed264ceedfbd6a

Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Autor: Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)

Abstract Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln). mt-tRNAGln is indirectly charged by a transamidatio

Externí odkaz: https://doaj.org/article/5e2c03b6081043e5add48aba3812d059

Autoantibodies to Cytosolic 5′-Nucleotidase 1A in Primary Sjögren’s Syndrome and Systemic Lupus Erythematosus

Autor: Anke Rietveld, Luuk L. van den Hoogen, Nicola Bizzaro, Sofie L. M. Blokland, Cornelia Dähnrich, Jacques-Eric Gottenberg, Gunnar Houen, Nora Johannsen, Thomas Mandl, Alain Meyer, Christoffer T. Nielsen, Peter Olsson, Joel van Roon, Wolfgang Schlumberger, Baziel G. M. van Engelen, Christiaan G. J. Saris, Ger J. M. Pruijn

Publikováno v: Frontiers in Immunology, Vol 9 (2018)

IntroductionAutoantibodies to cytosolic 5′-nucleotidase 1A (cN-1A; NT5C1A) have a high specificity when differentiating sporadic inclusion body myositis from polymyositis and dermatomyositis. In primary Sjögren’s syndrome (pSS) and systemic lupu

Externí odkaz: https://doaj.org/article/53d8500b8f6948569d9655498688a813

Mechanism of biomolecular recognition of trimethyllysine by the fluorinated aromatic cage of KDM5A PHD3 finger

Autor: Thijs Beuming, F. Matthias Bickelhaupt, Maud H. M. Wuts, Ger J. M. Pruijn, Jos J. A. G. Kamps, Jasmin Mecinović, Bas J. G. E. Pieters, Jordi Poater, Woody Sherman, Robert S. Paton, Kiran Kumar, Paul B. White

Publikováno v: Pieters, B J G E, Wuts, M H M, Poater, J, Kumar, K, White, P B, Kamps, J J A G, Sherman, W, Pruijn, G J M, Paton, R S, Beuming, T, Bickelhaupt, F M & Mecinović, J 2020, ' Mechanism of biomolecular recognition of trimethyllysine by the fluorinated aromatic cage of KDM5A PHD3 finger ', Communications Chemistry, vol. 3, no. 1, 69, pp. 1-12 . https://doi.org/10.1038/s42004-020-0313-2
Communications Chemistry, 3
Pieters, B J G E, Wuts, M H M, Poater, J, Kumar, K, White, P B, Kamps, J J A G, Sherman, W, Pruijn, G J M, Paton, R S, Beuming, T, Bickelhaupt, F M & Mecinović, J 2020, ' Mechanism of biomolecular recognition of trimethyllysine by the fluorinated aromatic cage of KDM5A PHD3 finger ', Communications Chemistry, vol. 3, 69 . https://doi.org/10.1038/s42004-020-0313-2
Communications Chemistry, 3(1):69, 1-12. Springer Nature
Communications Chemistry
Communications Chemistry, 3, 1
Communications Chemistry, Vol 3, Iss 1, Pp 1-12 (2020)

The understanding of biomolecular recognition of posttranslationally modified histone proteins is centrally important to the histone code hypothesis. Despite extensive binding and structural studies on the readout of histones, the molecular language

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10178b367b5719086ad0d3aa769b5e24
http://www.scopus.com/inward/record.url?scp=85085870921&partnerID=8YFLogxK

Autoantibody testing in idiopathic inflammatory myopathies

Autor: Baziel G.M. van Engelen, Johan Lim, Ger J. M. Pruijn, Olivier Benveniste, Marianne de Visser, Anneke J. van der Kooi, Anke Rietveld, Christiaan G J Saris

Publikováno v: Practical Neurology, 19, 284-294
Practical Neurology, 19, 4, pp. 284-294

Contains fulltext : 207009.pdf (Publisher’s version ) (Closed access) The diagnosis and classification of idiopathic inflammatory myopathies are based mainly on clinical and histological features. The discovery of myositis-specific and myositis-ass

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::daec9d2307dac34a59127fc27613a55b
https://doi.org/10.1136/practneurol-2017-001742