Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Frédérique Sabourdy"'
Autor:
Patricia Dubot, Frédérique Sabourdy, Geneviève Plat, Charlotte Jubert, Claude Cancès, Pierre Broué, Guy Touati, Thierry Levade
Publikováno v:
International Journal of Molecular Sciences, Vol 20, Iss 21, p 5345 (2019)
We report the case of a boy who was diagnosed with mucopolysaccharidosis (MPS) VII at two weeks of age. He harbored three missense β-glucuronidase (GUSB) variations in exon 3: two novel, c.422A>C and c.424C>T, inherited from his mother, and the rath
Externí odkaz:
https://doaj.org/article/ed70315550ca4db996bab2651d93974c
Autor:
Patricia Dubot, Leonardo Astudillo, Nicole Therville, Lorry Carrié, Magali Pettazzoni, David Cheillan, Jérôme Stirnemann, Thierry Levade, Nathalie Andrieu-Abadie, Frédérique Sabourdy
Publikováno v:
Cancers
Cancers, 2022, 14 (19), pp.4858. ⟨10.3390/cancers14194858⟩
Cancers, 2022, 14 (19), pp.4858. ⟨10.3390/cancers14194858⟩
Sphingolipids play a key structural role in cellular membranes and/or act as signaling molecules. Inherited defects of their catabolism lead to lysosomal storage diseases called sphingolipidoses. Although progress has been made toward a better unders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::846917d5a13a755c79febb64b428896f
https://www.hal.inserm.fr/inserm-03987313/file/cancers-14-04858-v2.pdf
https://www.hal.inserm.fr/inserm-03987313/file/cancers-14-04858-v2.pdf
Autor:
Jean Ferrières, Thierry Levade, Céline Verdier, Frédérique Sabourdy, Patricia Dubot, Thibaut Jamme, Dorota Ferrieres
Publikováno v:
Clinical chemistry. 67(8)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::104fd5220408183632e8b5ee18cf3925
https://pubmed.ncbi.nlm.nih.gov/36189710
https://pubmed.ncbi.nlm.nih.gov/36189710
Autor:
Magali Pettazzoni, Thierry Levade, Patricia Dubot, Roseline Froissart, Jonathan Curot, Frédérique Sabourdy, Marion Simonetta-Moreau, Marie Rafiq, Fabienne Ory-Magne
Publikováno v:
Parkinsonismrelated disorders. 94
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b59ff15f597d98b9a6bffee6d169766
https://pubmed.ncbi.nlm.nih.gov/34275752
https://pubmed.ncbi.nlm.nih.gov/34275752
Autor:
Marie-Pierre Golinelli-Cohen, Frédérique Sabourdy, Odile Boespflug-Tanguy, Marlène Rio, E. Lebigot, Imen Dorboz, P. de Lonlay, Bénédicte Héron, A. Cardoso, A. Slama, A. Boutron, Pauline Gaignard, Cécile Bouton, Florence Habarou, Patrice Therond, Chris Ottolenghi
Publikováno v:
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2017, 122 (3), pp.85-94. ⟨10.1016/j.ymgme.2017.08.001⟩
Molecular Genetics and Metabolism, Elsevier, 2017, 122 (3), pp.85-94. ⟨10.1016/j.ymgme.2017.08.001⟩
International audience; Lipoic acid (LA) is the cofactor of the E2 subunit of mitochondrial ketoacid dehydrogenases and plays a major role in oxidative decarboxylation. De novo LA biosynthesis is dependent on LIAS activity together with LIPT1 and LIP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c4adddbbeb0c529e6e7f32dc75880fa
https://doi.org/10.1016/j.ymgme.2017.08.001
https://doi.org/10.1016/j.ymgme.2017.08.001
Autor:
Juliette Bouchereau, Julie Leduc-Leballeur, Samia Pichard, Apolline Imbard, Jean-François Benoist, Marie-Thérèse Abi Warde, Jean-Baptiste Arnoux, Valérie Barbier, Anaïs Brassier, Pierre Broué, Aline Cano, Brigitte Chabrol, Gilles Damon, Claire Gay, Isabelle Guillain, Florence Habarou, Delphine Lamireau, Chris Ottolenghi, Laetitia Paermentier, Frédérique Sabourdy, Guy Touati, Hélène Ogier de Baulny, Pascale de Lonlay, Manuel Schiff
Publikováno v:
Journal of Inherited Metabolic Disease. 40:377-383
Maple syrup urine disease (MSUD), an inborn error of amino acids catabolism is characterized by accumulation of branched chain amino acids (BCAAs) leucine, isoleucine, valine and their corresponding alpha-ketoacids. Impact on the cognitive developmen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4611a64a916b61bb92a29878c33f6667
https://doi.org/10.1007/s10545-017-0033-7
https://doi.org/10.1007/s10545-017-0033-7
Publikováno v:
Clinica Chimica Acta
Clinica Chimica Acta, Elsevier, 2019, 495, pp.457-466. ⟨10.1016/j.cca.2019.05.020⟩
Clinica Chimica Acta, Elsevier, 2019, 495, pp.457-466. ⟨10.1016/j.cca.2019.05.020⟩
Ceramides are membrane lipids implicated in the regulation of numerous biological functions. Recent evidence suggests that specific subsets of molecular species of ceramide may play distinct physiological roles. The importance of this family of molec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eeffb48204691f241db8fcb3e521ea7
https://pubmed.ncbi.nlm.nih.gov/31128082
https://pubmed.ncbi.nlm.nih.gov/31128082
Autor:
Frédérique Sabourdy, Nicole Therville, Patricia Dubot, Nathalie Andrieu-Abadie, Thierry Levade, Jérôme Stirnemann, Leonardo Astudillo
Publikováno v:
Cancers
Cancers, Vol 12, Iss 2, p 475 (2020)
Cancers, Vol 12, Iss 2, p 475 (2020)
The roles of ceramide and its catabolites, i.e., sphingosine and sphingosine 1-phosphate, in the development of malignancies and the response to anticancer regimens have been extensively described. Moreover, an abundant literature points to the effec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a61d89b65f5a003b4a9f6f33c93a7d2d
https://doi.org/10.3390/cancers12020475
https://doi.org/10.3390/cancers12020475
Autor:
Jacek Majewski, Frédérique Sabourdy, Hugh J. McMillan, D Garandeau, Virginie Garcia, Megan R. Vanstone, Thierry Levade, Amanda C. Smith, Jeremy Schwartzentruber, Dennis E. Bulman, David A. Dyment, Chandree L. Beaulieu, Erick Sell, Kym M. Boycott, E Le Trionnaire, Stéphane Carpentier
Publikováno v:
Clinical Genetics. 86:558-563
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) is a recently delineated, autosomal recessive condition caused by rare mutations in the N-acylsphingosine amidohydrolase 1 (acid ceramidase) ASAH1 gene. It is characterized by moto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fba528f32293cbb9441499c1f60e0665
https://doi.org/10.1111/cge.12307
https://doi.org/10.1111/cge.12307
Autor:
Thierry Levade, Jean-Charles Portais, Romain Riscal, Maud Heuillet, Madi Y. Cissé, Floriant Bellvert, Frédérique Sabourdy, Pierre Thibaut, Eric Bonneil, Emilie Schrepfer, Laurent Le Cam, Giuseppe Arena, Laetitia K. Linares, Jean-Emmanuel Sarry, Imade Ait-Arsa, Jean-Christophe Marine, Florian Rambow, Charles Vincent
Publikováno v:
Molecular Cell
Molecular Cell, 2016, 62 (6), pp.890-902. ⟨10.1016/j.molcel.2016.04.033⟩
Molecular Cell, Elsevier, 2016, 62 (6), pp.890-902. ⟨10.1016/j.molcel.2016.04.033⟩
Molecular Cell, 2016, 62 (6), pp.890-902. ⟨10.1016/j.molcel.2016.04.033⟩
Molecular Cell, Elsevier, 2016, 62 (6), pp.890-902. ⟨10.1016/j.molcel.2016.04.033⟩
The mouse double minute 2 (MDM2) oncoprotein is recognized as a major negative regulator of the p53 tumor suppressor, but growing evidence indicates that its oncogenic activities extend beyond p53. Here, we show that MDM2 is recruited to chromatin in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4544e00da2461a9c18041ad9492c37dd
https://hal.science/hal-01886397
https://hal.science/hal-01886397