Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Els Schollen"'
Autor:
Pierre Morsomme, Mustapha Amyere, Valerie Race, Dominique Legrand, W. Annaert, Hudson H. Freeze, Jaak Jaeken, Neil R. M. Buist, Didier Demaegd, Riet Bammens, Emile Van Schaftingen, Els Schollen, Renate Zeevaert, Claire Rosnoblet, David Cheillan, Gert Matthijs, François Foulquier, Miikka Vikkula, Willy Morelle, Nathalie Guffon
Publikováno v:
The American Journal of Human Genetics. 91(1):15-26
Protein glycosylation is a complex process that depends not only on the activities of several enzymes and transporters but also on a subtle balance between vesicular Golgi trafficking, compartmental pH, and ion homeostasis. Through a combination of a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f23a40b3ffa5832f0fe301ee5f7dabc
Autor:
P. Briones, M. A. Vilaseca, Mercedes Pineda, Angeles Garcia-Cazorla, Els Schollen, Jaime Campistol, Rafael Artuch, P Póo, Celia Pérez-Cerdá, Victoria Cusi, Stephanie Grunewald, Belén Pérez-Dueñas, Gert Matthijs
Publikováno v:
European Journal of Paediatric Neurology. 13:444-451
Congenital disorder of glycosylation Ia (CDG-Ia) is a metabolic disease with a broad spectrum of clinical signs, including recently described mild phenotypes. Our aim was to describe the clinical presentation and follow-up of eight CDG-Ia patients hi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4fbe17ea633668f43ae2dab98d9fea8d
https://doi.org/10.1016/j.ejpn.2008.09.002
https://doi.org/10.1016/j.ejpn.2008.09.002
Autor:
Ewa Pronicka, Maciej Adamowicz, Liesbeth Keldermans, Felix Sánchez-Valverde, Ron A. Wevers, A Chabás, Gert Matthijs, Els Schollen, Paz Briones, François Foulquier
Publikováno v:
Molecular Genetics and Metabolism, 90, 408-13
Molecular Genetics and Metabolism, 90, 4, pp. 408-13
Molecular Genetics and Metabolism, 90, 4, pp. 408-13
Contains fulltext : 53272.pdf (Publisher’s version ) (Closed access) Congenital disorders of glycosylation type Ia (CDG-Ia) is a recessive metabolic disorder caused by mutations in the PMM2 gene and characterized by a defect in the synthesis of N-g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec45e582e550bd641be4656031333d73
https://hdl.handle.net/2066/53272
https://hdl.handle.net/2066/53272
Publikováno v:
Current Pediatric Reviews. 2:323-330
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f6975e695d9a5f66ff3c29b540251f41
https://doi.org/10.2174/157339606778699699
https://doi.org/10.2174/157339606778699699
Autor:
Wim Annaert, Philippa B. Mills, Monty Krieger, Eliza Vasile, Bryan Winchester, François Foulquier, Tim Raemaekers, Gert Matthijs, Dulce Quelhas, Jacques Jaeken, Nico Callewaert, Els Schollen
Publikováno v:
Proceedings of the National Academy of Sciences. 103:3764-3769
The conserved oligomeric Golgi (COG) complex is a heterooctameric complex that regulates intraGolgi trafficking and the integrity of the Golgi compartment in eukaryotic cells. Here, we describe a patient with a mild form of congenital disorder of gly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c23b2a42c5230a58082a0de352a77c10
https://doi.org/10.1073/pnas.0507685103
https://doi.org/10.1073/pnas.0507685103
Autor:
Markus Aebi, Liesbeth Keldermans, Christian Frank, Gert Matthijs, Peter E. Clayton, Els Schollen, Bryan Winchester, T Hennet, Ron A. Wevers, R. Reyntjens, Jan A.M. Smeitink, Claudia E. Grubenmann
Publikováno v:
Journal of Medical Genetics, 41, 550-6
Journal of Medical Genetics, 41, 7, pp. 550-6
Scopus-Elsevier
Journal of Medical Genetics, 41, 7, pp. 550-6
Scopus-Elsevier
Protein glycosylation is an essential post-translational modification of various proteins, affecting their folding, sorting, and function. Inborn defects in the assembly and processing of glycans on glycoproteins are known as congenital disorders of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c4e0a2c58808cf4e92bacd5160fd742
https://doi.org/10.1136/jmg.2003.016923
https://doi.org/10.1136/jmg.2003.016923
Autor:
Gert Matthijs, Claudia E. Grubenmann, Els Schollen, Christian Frank, Thierry Hennet, Markus Aebi, Andreas J. Hülsmeier, Eric G. Berger, Ertan Mayatepek
Publikováno v:
Human Molecular Genetics, 13 (5)
Human Molecular Genetics, 13 (5)
ISSN:0964-6906
ISSN:1460-2083
ISSN:0964-6906
ISSN:1460-2083
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d521024efe243b9407a0d1f1614c3156
https://doi.org/10.1093/hmg/ddh050
https://doi.org/10.1093/hmg/ddh050
Publikováno v:
Human Mutation. 22:116-120
Since 1999, many laboratories have confirmed that mutations in the MECP2 gene are the primary cause of Rett syndrome (RTT or RS) and identified mutations in 70 to 90% of the sporadically affected girls. Most of the screenings are PCR-based and restri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::433e6ad0818b3f050655de29a88b5742
https://doi.org/10.1002/humu.10242
https://doi.org/10.1002/humu.10242
Publikováno v:
European Journal of Human Genetics. 11:85-88
Noonan syndrome (NS, MIM 163950) is an autosomal dominant condition characterised by facial dysmorphy, congenital cardiac defects and short stature. Recently missense mutations in PTPN11, the gene encoding the nonreceptor protein tyrosine phosphatase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55cc90f6466aba0d60e65975afde366a
https://doi.org/10.1038/sj.ejhg.5200915
https://doi.org/10.1038/sj.ejhg.5200915
Publikováno v:
Gene. 270:53-59
Phosphomannomutases catalyze the reversible conversion of mannose 6-phosphate to mannose 1-phosphate. In humans, two different isozymes have recently been identified, PMM1 and PMM2. We have previously shown that mutations in the PMM2 gene cause the m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74fbe1ca7a394e5ce73d305183d23229
https://doi.org/10.1016/s0378-1119(01)00481-4
https://doi.org/10.1016/s0378-1119(01)00481-4