Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Merel A. Post"'
Autor:
Federica Conte, Angel Ashikov, Rachel Mijdam, Eline G. P. van de Ven, Monique van Scherpenzeel, Raisa Veizaj, Seyed P. Mahalleh-Yousefi, Merel A. Post, Karin Huijben, Daan M. Panneman, Richard J. T. Rodenburg, Nicol C. Voermans, Alejandro Garanto, Werner J. H. Koopman, Hans J. C. T. Wessels, Marek J. Noga, Dirk J. Lefeber
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 9, p 8247 (2023)
Phosphoglucomutase 1 (PGM1) is a key enzyme for the regulation of energy metabolism from glycogen and glycolysis, as it catalyzes the interconversion of glucose 1-phosphate and glucose 6-phosphate. PGM1 deficiency is an autosomal recessive disorder c
Externí odkaz:
https://doaj.org/article/764ad37d103c4846adf3b11e0471176b
Autor:
Melissa Baerenfaenger, Merel A. Post, Pieter Langerhorst, Karin Huijben, Fokje Zijlstra, Joannes F. M. Jacobs, Marcel M. Verbeek, Hans J. C. T. Wessels, Dirk J. Lefeber
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 3, p 1937 (2023)
The glycosylation of proteins plays an important role in neurological development and disease. Glycoproteomic studies on cerebrospinal fluid (CSF) are a valuable tool to gain insight into brain glycosylation and its changes in disease. However, it is
Externí odkaz:
https://doaj.org/article/445be050d41c439e9627ca4db0d8114e
Autor:
Irene Vázquez-Domínguez, Lonneke Duijkers, Zeinab Fadaie, Eef C. W. Alaerds, Merel A. Post, Edwin M. van Oosten, Luke O’Gorman, Michael Kwint, Louet Koolen, Anita D. M. Hoogendoorn, Hester Y. Kroes, Christian Gilissen, Frans P. M. Cremers, Rob W. J. Collin, Susanne Roosing, Alejandro Garanto
Publikováno v:
Cells, Vol 11, Iss 22, p 3640 (2022)
Pathogenic variants in RPE65 lead to retinal diseases, causing a vision impairment. In this work, we investigated the pathomechanism behind the frequent RPE65 variant, c.11+5G>A. Previous in silico predictions classified this change as a splice varia
Externí odkaz:
https://doaj.org/article/7ee75d27cc704aa096038f239dd31708
Autor:
Bibiche den Hollander, Anne Rasing, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Dirk J. Lefeber, Clara D. M. van Karnebeek
Publikováno v:
Frontiers in Neurology, Vol 12 (2021)
Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. Sialic acid at the end of glycoconjugates plays a key role
Externí odkaz:
https://doaj.org/article/8c594ab0c7de47199c4d3dccb48830a8
Autor:
Merel A. Post, Isis de Wit, Fokje S. M. Zijlstra, Udo F. H. Engelke, Arno van Rooij, John Christodoulou, Tiong Yang Tan, Anna Le Fevre, Danqun Jin, Joy Yaplito‐Lee, Beom Hee Lee, Karen J. Low, Andrew A. Mallick, Katrin Õunap, James Pitt, William Reardon, Mari‐Anne Vals, Saskia B. Wortmann, Hans J. C. T. Wessels, Melissa Bärenfänger, Clara D. M. van Karnebeek, Dirk J. Lefeber
Publikováno v:
Journal of Inherited Metabolic Disease, 46, 2, pp. 313-325
Post, M A, De Wit, I, Zijlstra, F, Low, K J, Van Karnebeek, C, Lefeber, D & et, A 2023, ' MOGS-CDG : quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 313-325 . https://doi.org/10.1002/jimd.12588, https://doi.org/10.1002/jimd.12588
Journal of Inherited Metabolic Disease, 46, 313-325
Post, M A, De Wit, I, Zijlstra, F, Low, K J, Van Karnebeek, C, Lefeber, D & et, A 2023, ' MOGS-CDG : quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 313-325 . https://doi.org/10.1002/jimd.12588, https://doi.org/10.1002/jimd.12588
Journal of Inherited Metabolic Disease, 46, 313-325
Contains fulltext : 290862.pdf (Publisher’s version ) (Open Access) Congenital disorders of glycosylation (CDG) are a clinically and biochemically heterogeneous subgroup of inherited metabolic disorders. Most CDG with abnormal N-glycosylation can b
Autor:
Pieter Langerhorst, Melissa Baerenfaenger, Purva Kulkarni, Simon Nadal, Charissa Wijnands, Merel A. Post, Somayya Noori, Martijn M. vanDuijn, Irma Joosten, Thomas Dejoie, Alain J. van Gool, Jolein Gloerich, Dirk J. Lefeber, Hans J.C.T. Wessels, Joannes F.M. Jacobs
Multiple Myeloma (MM) is a plasma cell malignancy characterized by a monoclonal expansion of plasma cells that secrete a characteristic M-protein. This M-protein is crucial for diagnosis and monitoring of MM in the blood of patients. Recent evidence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2543ddfa7c93b5037f7327209bda7328
https://doi.org/10.1101/2023.04.05.535540
https://doi.org/10.1101/2023.04.05.535540
Autor:
Bibiche den Hollander, Anne Rasing, Merel A. Post, Willemijn M. Klein, Machteld M. Oud, Marion M. Brands, Lonneke de Boer, Udo F. H. Engelke, Peter van Essen, Sabine A. Fuchs, Charlotte A. Haaxma, Brynjar O. Jensson, Leo A. J. Kluijtmans, Anna Lengyel, Klaske D. Lichtenbelt, Elsebet Østergaard, Gera Peters, Ramona Salvarinova, Marleen E. H. Simon, Kari Stefansson, Ólafur Thorarensen, Ulrike Ulmen, Karlien L. M. Coene, Michèl A. Willemsen, Dirk J. Lefeber, Clara D. M. van Karnebeek
Publikováno v:
den Hollander, B, Rasing, A, Post, M A, Klein, W M, Oud, M M, Brands, M M, de Boer, L, Engelke, U F H, van Essen, P, Fuchs, S A, Haaxma, C A, Jensson, B O, Kluijtmans, L A J, Lengyel, A, Lichtenbelt, K D, Østergaard, E, Peters, G, Salvarinova, R, Simon, M E H, Stefansson, K, Thorarensen, Ó, Ulmen, U, Coene, K L M, Willemsen, M A, Lefeber, D J & Karnebeek, C D M V 2021, ' NANS-CDG : Delineation of the Genetic, Biochemical, and Clinical Spectrum ', Frontiers in Neurology, vol. 12, 668640 . https://doi.org/10.3389/fneur.2021.668640
Frontiers in Neurology, 12
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology
Frontiers in neurology, 12:668640. Frontiers Media S.A.
Frontiers in Neurology, 12
Frontiers in Neurology, Vol 12 (2021)
Frontiers in Neurology
Frontiers in neurology, 12:668640. Frontiers Media S.A.
Background: NANS-CDG is a recently described congenital disorder of glycosylation caused by biallelic genetic variants in NANS, encoding an essential enzyme in de novo sialic acid synthesis. Sialic acid at the end of glycoconjugates plays a key role
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b43c25ea99a3697185811c0f8e3e2464
https://curis.ku.dk/portal/da/publications/nanscdg(71448156-5842-4473-8ce5-582da2117811).html
https://curis.ku.dk/portal/da/publications/nanscdg(71448156-5842-4473-8ce5-582da2117811).html
Autor:
Merel A. Post, Dirk Lefeber
Publikováno v:
Annals of Translational Medicine, 7, Suppl 6, pp. S220
Annals of Translational Medicine, 7, S220
Annals of Translational Medicine, 7, S220
Glycosylation is the most diverse type of protein modifications. Glycosylation occurs in the endoplasmatic reticulum (ER) and Golgi apparatus. The presence of multiple competing glycosyltransferases and glycosidases results in a highly heterogeneous
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a783225a40884da3eafc476fea92de1f
https://hdl.handle.net/2066/215590
https://hdl.handle.net/2066/215590