Complexity and Diversity of the Mammalian Sialome Revealed by Nidovirus Virolectins

Autor: Martijn A. Langereis, Mark J.G. Bakkers, Lingquan Deng, Vered Padler-Karavani, Stephin J. Vervoort, Ruben J.G. Hulswit, Arno L.W. van Vliet, Gerrit J. Gerwig, Stefanie A.H. de Poot, Willemijn Boot, Anne Marie van Ederen, Balthasar A. Heesters, Chris M. van der Loos, Frank J.M. van Kuppeveld, Hai Yu, Eric G. Huizinga, Xi Chen, Ajit Varki, Johannis P. Kamerling, Raoul J. de Groot

Publikováno v: Cell Reports, Vol 11, Iss 12, Pp 1966-1978 (2015)

Sialic acids (Sias), 9-carbon-backbone sugars, are among the most complex and versatile molecules of life. As terminal residues of glycans on proteins and lipids, Sias are key elements of glycotopes of both cellular and microbial lectins and thus act

Externí odkaz: https://doaj.org/article/c810e7e811be4ad3b07b1a33d7f7d1fb

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay

Autor: Gijs van Haaften, Nanda M. Verhoeven-Duif, Marjo S. van der Knaap, Holger Rehmann, Graeme C.M. Black, Jeroen Bakkers, Lynne Rumping, Peter M. van Hasselt, Hester Y. Kroes, Ruben Ramos, Tobias B. Dansen, Hubertus C.M.T. Prinsen, Sanne M C Savelberg, Judith J.M. Jans, Dennis W. J. Klomp, Rachel L. Taylor, Alex A. Bhogal, Esmee Vringer, Federico Tessadori, Jannie P. Wijnen, Peter A W J F Schellekens, Mark J.G. Bakkers, Fried J. T. Zwartkruis, Petra J. W. Pouwels, Roderick H. J. Houwen, Karen Duran

Publikováno v: Taylor, R L & Black, G 2019, ' GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay ', Human Molecular Genetics, vol. 28, no. 1, pp. 96-104 . https://doi.org/10.1093/hmg/ddy330
Rumping, L, Tessadori, F, Pouwels, P J W, Vringer, E, Wijnen, J P, Bhogal, A A, Savelberg, S M C, Duran, K J, Bakkers, M J G, Ramos, R B J J, Schellekens, P A W, Kroes, H Y, Klomp, D W J, Black, G C M, Taylor, R L, Bakkers, J P W, Prinsen, H C M T, van der Knaap, M S, Dansen, T B, Rehmann, H, Zwartkruis, F J T, Houwen, R H J, van Haaften, G, Verhoeven-Duif, N M, Jans, J J M & van Hasselt, P M 2019, ' GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay ', Human Molecular Genetics, vol. 28, no. 1, pp. 96-104 . https://doi.org/10.1093/hmg/ddy330
Human molecular genetics, 28(1), 96-104. Oxford University Press
Human Molecular Genetics. Oxford University Press
Human Molecular Genetics, 28(1), 96-104. Oxford University Press
Human Molecular Genetics, 28(1), 96. Oxford University Press

Loss-of-function mutations in glutaminase (GLS), the enzyme converting glutamine into glutamate, and the counteracting enzyme glutamine synthetase (GS) cause disturbed glutamate homeostasis and severe neonatal encephalopathy. We report a de novo Ser4

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efa4edf932c3eefca85db219883f75f1
https://doi.org/10.1093/hmg/ddy330