Zobrazeno 1 - 10
of 225
pro vyhledávání: '"Emile van Schaftingen"'
Autor:
Leticia Lázaro-Antón, Maria Veiga-da-Cunha, Aitor Elizalde-Bielsa, Nathalie Chevalier, Raquel Conde-Álvarez, Maite Iriarte, Jean Jacques Letesson, Ignacio Moriyón, Emile Van Schaftingen, Amaia Zúñiga-Ripa
Publikováno v:
Frontiers in Veterinary Science, Vol 11 (2024)
Brucellosis is a worldwide extended zoonosis caused by pathogens of the genus Brucella. While most B. abortus, B. melitensis, and B. suis biovars grow slowly in complex media, they multiply intensely in livestock genitals and placenta indicating high
Externí odkaz:
https://doaj.org/article/822bddfb41a341a5a41a674eeeb779aa
Publikováno v:
Diagnostics, Vol 13, Iss 10, p 1803 (2023)
Glycogen storage disease type Ib (GSD1b) is due to a defect in the glucose-6-phosphate transporter (G6PT) of the endoplasmic reticulum, which is encoded by the SLC37A4 gene. This transporter allows the glucose-6-phosphate that is made in the cytosol
Externí odkaz:
https://doaj.org/article/8f930b55bb544eda8fb49f0bd0a72fec
Autor:
Matthew P. Wilson, Dulce Quelhas, Elisa Leão‐Teles, Luisa Sturiale, Daisy Rymen, Liesbeth Keldermans, Valérie Race, Erika Souche, Esmeralda Rodrigues, Teresa Campos, Emile Van Schaftingen, François Foulquier, Domenico Garozzo, Gert Matthijs, Jaak Jaeken
Publikováno v:
JIMD Reports, Vol 58, Iss 1, Pp 122-128 (2021)
Abstract Recently, a disorder caused by the heterozygous de novo c.1267C>T (p.R423*) substitution in SLC37A4 has been described. This causes mislocalization of the glucose‐6‐phosphate transporter to the Golgi leading to a congenital disorder of g
Externí odkaz:
https://doaj.org/article/fb9480b0400444b79ad09a8a472411f2
Autor:
Kristine Nolting, Julien H. Park, Laura C. Tegtmeyer, Andrea Zühlsdorf, Marianne Grüneberg, Stephan Rust, Janine Reunert, Ingrid Du Chesne, Volker Debus, Eric Schulze-Bahr, Robert C. Baxter, Yoshinao Wada, Christian Thiel, Emile van Schaftingen, Ralph Fingerhut, Thorsten Marquardt
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 33-40 (2017)
Introduction: Phosphoglucomutase 1 deficiency (PGM1 deficiency) has been identified as both, glycogenosis and congenital disorder of glycosylation (CDG). The phenotype includes hepatopathy, myopathy, oropharyngeal malformations, heart disease and gro
Externí odkaz:
https://doaj.org/article/10d9db70a03446e5b7eab4cad03b3098
Publikováno v:
Microbial Cell, Vol 3, Iss 10, Pp 495-499 (2016)
Externí odkaz:
https://doaj.org/article/f68ac716a80941fba466722aa80d1a36
Autor:
Isabelle Gerin, Benoît Ury, Isabelle Breloy, Céline Bouchet-Seraphin, Jennifer Bolsée, Mathias Halbout, Julie Graff, Didier Vertommen, Giulio G. Muccioli, Nathalie Seta, Jean-Marie Cuisset, Ivana Dabaj, Susana Quijano-Roy, Ammi Grahn, Emile Van Schaftingen, Guido T. Bommer
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-15 (2016)
Mutations in genes required for the glycosylation of α-dystroglycan lead to dystroglycanopathies. Here, the authors show that three of these enzymes (ISPD, FKTN and FKRP) work together to attach ribitol phosphate to α-dystroglycan.
Externí odkaz:
https://doaj.org/article/52a41f70e28942c9b6bfb5d64d331efc
Autor:
Thibault Barbier, Arnaud Machelart, Amaia Zúñiga-Ripa, Hubert Plovier, Charlotte Hougardy, Elodie Lobet, Kevin Willemart, Eric Muraille, Xavier De Bolle, Emile Van Schaftingen, Ignacio Moriyón, Jean-Jacques Letesson
Publikováno v:
Frontiers in Microbiology, Vol 8 (2017)
Erythritol is the preferential carbon source for most brucellae, a group of facultative intracellular bacteria that cause a worldwide zoonosis. Since this polyol is abundant in genital organs of ruminants and swine, it is widely accepted that erythri
Externí odkaz:
https://doaj.org/article/575807365bd94234a9acf1ac1f3de78e
Autor:
Rim Rzem, Younes Achouri, Etienne Marbaix, Olivier Schakman, Elsa Wiame, Sandrine Marie, Philippe Gailly, Marie-Françoise Vincent, Maria Veiga-da-Cunha, Emile Van Schaftingen
Publikováno v:
PLoS ONE, Vol 10, Iss 3, p e0119540 (2015)
The purpose of the present work was to progress in our understanding of the pathophysiology of L-2-hydroxyglutaric aciduria, due to a defect in L-2-hydroxyglutarate dehydrogenase, by creating and studying a mouse model of this disease. L-2-hydroxyglu
Externí odkaz:
https://doaj.org/article/ab322ed67c7840d9a816df083068a298
Autor:
Jean Donadieu, Aurelia Alimi, Anais Brassier, Blandine Beaupain, Camille Wicker, jean-Meidi Alili, Christine Bellanne-Chantelot, Amelie Chaussade, Martin Castelle, Mathlide Lamarque, Isabelle Plo, Lea Durix, Aude Pion, Sylvie Souquere, Caroline Marty, Pierre Simon Rohrlich, Karine Mention, Wadih Abouchahla, Marie Szymanowski, Myriam Dao, Felipe Suarez, Paola Parronchi, Boaz Palterer, Noemie Urvoy, Hélène Lapillonne, Fabrizio Andreelli, Emile Van Schaftingen, Philippe Labrune, Pascale De Lonlay, Maria Veiga Da Cunha
Publikováno v:
Blood. 140:8320-8322
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f908903037532ba168fa6dad1ffa8294
https://doi.org/10.1182/blood-2022-169243
https://doi.org/10.1182/blood-2022-169243
Autor:
Vadim N. Gladyshev, Stephen B. Kritchevsky, Steven G. Clarke, Ana Maria Cuervo, Oliver Fiehn, João Pedro de Magalhães, Theresa Mau, Michal Maes, Robert L. Moritz, Laura J. Niedernhofer, Emile Van Schaftingen, Gregory J. Tranah, Kenneth Walsh, Yoshimitsu Yura, Bohan Zhang, Steven R. Cummings
Publikováno v:
Nat Aging
Nature aging, vol 1, iss 12
Nature aging, vol 1, iss 12
Cellular metabolism generates molecular damage affecting all levels of biological organization. Accumulation of this damage over time is thought to play a central role in the aging process, but damage manifests in diverse molecular forms complicating
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::985df81dd080c6951b43c1a1375c1b25
https://doi.org/10.1038/s43587-021-00150-3
https://doi.org/10.1038/s43587-021-00150-3