Zobrazeno 1 - 10
of 94
pro vyhledávání: '"Maria Veiga Da Cunha"'
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
Autor:
Zufit Hexner-Erlichman, Maria Veiga-da-Cunha, Yoav Zehavi, Zahava Vadasz, Adi D. Sabag, Sameh Tatour, Ronen Spiegel
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
BackgroundGlycogen storage disease type 1b (GSD1b) is an ultra-rare autosomal recessive disorder, caused by mutations in SLC37A4 gene. Affected patients present with episodes of fasting hypoglycemia and lactic acidosis, hepatomegaly, growth retardati
Externí odkaz:
https://doaj.org/article/9ddd4db544c94b418be2850a58e52445
Autor:
Alessandro Rossi, Erasmo Miele, Simona Fecarotta, Maria Veiga-da-Cunha, Massimo Martinelli, Carmine Mollica, Maria D’Armiento, Enza Mozzillo, Pietro Strisciuglio, Terry G. J. Derks, Annamaria Staiano, Giancarlo Parenti
Publikováno v:
Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-9 (2021)
Abstract Background Besides major clinical/biochemical features, neutropenia and inflammatory bowel disease (IBD) constitute common complications of Glycogen storage disease type Ib (GSD Ib). However, their management is still challenging. Although p
Externí odkaz:
https://doaj.org/article/80a1e999c8814c649c18bbf4cba69ad9
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:
Roberta Resaz, Federica Raggi, Daniela Segalerba, Chiara Lavarello, Alessandra Gamberucci, Maria Carla Bosco, Simonetta Astigiano, Antonia Assunto, Daniela Melis, Mariavittoria D'Acierno, Maria Veiga-da-Cunha, Andrea Petretto, Paola Marcolongo, Francesco Trepiccione, Alessandra Eva
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100813- (2021)
Glycogen Storage Disease type 1b (GSDIb) is a genetic disorder with long term severe complications. Accumulation of the glucose analog 1,5-anhydroglucitol-6-phosphate (1,5AG6P) in neutrophils inhibits the phosphorylation of glucose in these cells, ca
Externí odkaz:
https://doaj.org/article/a5b4910718f54bcb8377940c09b5b6ed
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
Autor:
Sebastian Kwiatkowski, Agnieszka K Seliga, Didier Vertommen, Marianna Terreri, Takao Ishikawa, Iwona Grabowska, Marcel Tiebe, Aurelio A Teleman, Adam K Jagielski, Maria Veiga-da-Cunha, Jakub Drozak
Publikováno v:
eLife, Vol 7 (2018)
Protein histidine methylation is a rare post-translational modification of unknown biochemical importance. In vertebrates, only a few methylhistidine-containing proteins have been reported, including β-actin as an essential example. The evolutionary
Externí odkaz:
https://doaj.org/article/29af8f8faa0346e6a53cb03159104fe4
Autor:
Cécile Boulanger, Xavier Stephenne, Jennifer Diederich, Pierre Mounkoro, Nathalie Chevalier, Alina Ferster, Emile Van Schaftingen, Maria Veiga‐da‐Cunha
Publikováno v:
Journal of inherited metabolic disease, Vol. 45, no.4, p. 759-768 (2022)
Journal of Inherited Metabolic Disease, (2022)
Journal of Inherited Metabolic Disease, (2022)
Neutropenia and neutrophil dysfunction found in deficiencies in G6PC3 and in the glucose-6-phosphate transporter (G6PT/SLC37A4) are due to accumulation of 1,5-anhydroglucitol-6-phosphate (1,5-AG6P), an inhibitor of hexokinase made from 1,5-anhydroglu
Autor:
Francesco Caligiore, Erika Zangelmi, Carola Vetro, Takfarinas Kentache, Joseph P. Dewulf, Maria Veiga-da-Cunha, Emile Van Schaftingen, Guido Bommer, Alessio Peracchi
Publikováno v:
Cellular and Molecular Life Sciences, Vol. 79, no.8, p. 421 (2022)
Transaminases play key roles in central metabolism, transferring the amino group from a donor substrate to an acceptor. These enzymes can often act, with low efficiency, on compounds different from the preferred substrates. To understand what might h
Autor:
Mélanie Carquin, Hélène Pollet, Maria Veiga-da-Cunha, Antoine Cominelli, Patrick Van Der Smissen, Francisca N'kuli, Hervé Emonard, Patrick Henriet, Hideaki Mizuno, Pierre J. Courtoy, Donatienne Tyteca
Publikováno v:
Journal of Lipid Research, Vol 55, Iss 7, Pp 1331-1342 (2014)
We recently reported that trace insertion of exogenous fluorescent (green BODIPY) analogs of sphingomyelin (SM) into living red blood cells (RBCs), partially spread onto coverslips, labels submicrometric domains, visible by confocal microscopy. We he
Externí odkaz:
https://doaj.org/article/52724f4fde7a4b589052dbd7d0888a92