A PRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients

Autor: Guéant, Jean-Louis, Chéry, Céline, Oussalah, Abderrahim, Nadaf, Javad, Coelho, David, Josse, Thomas, Flayac, Justine, Robert, Aurélie, Koscinski, Isabelle, Gastin, Isabelle, Filhine-Tresarrieu, Pierre, Pupavac, Mihaela, Brebner, Alison, Watkins, David, Pastinen, Tomi, Montpetit, Alexandre, Hariri, Fadi, Tregouët, David, Raby, Benjamin A, Chung, Wendy K., Morange, Pierre-Emmanuel, Froese, D. Sean, Baumgartner, Matthias R., Benoist, Jean-François, Ficicioglu, Can, Marchand, Virginie, Motorin, Yuri, Bonnemains, Chrystèle, Feillet, François, Majewski, Jacek, Rosenblatt, David S.

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-12 (2018)
Nature Communications
Nature Communications, 2018, 9 (1), pp.67. ⟨10.1038/s41467-017-02306-5⟩
Nature Communications, Nature Publishing Group, 2018, 9 (1), pp.67. ⟨10.1038/s41467-017-02306-5⟩

To date, epimutations reported in man have been somatic and erased in germlines. Here, we identify a cause of the autosomal recessive cblC class of inborn errors of vitamin B12 metabolism that we name “epi-cblC”. The subjects are compound heteroz

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0754f21f129d67519bccad352a828279
https://doaj.org/article/cbd6be2fd8e245cb84a21aa02a029651

Ethylene Response Factors (ERF) are differentially regulated by different abiotic stress types in tomato plants

Autor: Isabelle Mila, Mingchun Liu, Anne Bernadac, Imen Klay, Habib Khoudi, Mondher Bouzayen, Sandra Gouia, Julien Pirrello

Publikováno v: Plant Science
Plant Science, Elsevier, 2018, 274, pp.137-145. ⟨10.1016/j.plantsci.2018.05.023⟩
Plant Science, 2018, 274, pp.137-145. ⟨10.1016/j.plantsci.2018.05.023⟩

International audience; Plants are sessile organisms, hence to face environmental constrains they developed strategies that rely on the activation of stress-response genes under the control of specific transcription factors. The plant hormone ethylen

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f5d364e0182fbe240789e03a50536156

An extension to the metabolic control theory taking into account correlations between enzyme concentrations

Autor: Frédéric Gabriel, Christine Dillmann, Julie B. Fiévet, Sébastien Lion, Bruno Bost, Dominique de Vienne

Publikováno v: European Journal of Biochemistry
European Journal of Biochemistry, Wiley, 2004, 271 (22), pp.4375-91. ⟨10.1111/j.1432-1033.2004.04375.x⟩

DOI : 10.1111/j.1432-1033.2004.04375.x; The classical metabolic control theory [Kacser, H. & Burns, J.A. (1973) Symp. Soc. Exp. Biol.27, 65-104; Heinrich, R. & Rapoport, T. (1974) Eur. J. Biochem.42, 89-95.] does not take into account experimental ev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4aa4a1a50ba452b7880dfa517a3999c4
https://doi.org/10.1111/j.1432-1033.2004.04375.x

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

Autor: Stephen Sanders, Rui Luo, Patrícia B. S. Celestino-Soper, Frédéric M. Vaz, Ronald J.A. Wanders, Anath C. Lionel, Robin P. Goin-Kochel, Edwin H. Cook, Richard J. Schroer, Arthur L. Beaudet, Roger E. Stevenson, Peter Szatmari, Richard E. Person, Marwan Shinawi, Stephen W. Scherer, Suzanne M. Leal, Kwanghyuk Lee, Ni Huang, Sara Violante, Guiqing Cai, Catalina Betancur, Bekim Sadikovic, Wendy Roberts, Kun Gao, Diane Treadwell-Deering, Daniel H. Geschwind, Chad A. Shaw, Joseph D. Buxbaum, Timothy J. Moss, Bridget A. Fernandez, Elsa Delaby, Emily L. Crawford, Charlene Lo, James S. Sutcliffe, Matthew E. Hurles, Jennifer R. German

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America
Proceedings of the National Academy of Sciences of the United States of America, National Academy of Sciences, 2012, 109 (21), pp.7974-7981. ⟨10.1073/pnas.1120210109⟩
Molecular Genetics and Metabolism
35th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD)
35th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD), Mar 2012, Charlotte, United States. pp.308-309
Proceedings of the National Academy of Sciences of the United States of America, 2012, 109 (21), pp.7974-7981. ⟨10.1073/pnas.1120210109⟩
Proceedings of the National Academy of Sciences of the United States of America, 109(21), 7974-7981. National Academy of Sciences
Paediatrics Publications

We recently reported a deletion of exon 2 of the trimethyllysine hydroxylase epsilon ( TMLHE ) gene in a proband with autism. TMLHE maps to the X chromosome and encodes the first enzyme in carnitine biosynthesis, 6- N -trimethyllysine dioxygenase. De

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bcf2c686367385590122724d9f43b77e
https://www.hal.inserm.fr/inserm-00696112

EMBO workshop on immunology and metabolism

Autor: Ursula Grohmann, David Dombrowicz, Bart Staels

Publikováno v: EMBO Reports
EMBO Reports, 2011, 12 (5), pp.386-8. ⟨10.1038/embor.2011.68⟩
EMBO Reports, EMBO Press, 2011, 12 (5), pp.386-8. ⟨10.1038/embor.2011.68⟩

International audience; Recent findings have identified roles for the immune system in what were previously considered to be prototypic metabolic diseases, and metabolic control has emerged as an important determinant of immune function. Giovanna Chi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4bdc5a1ff06e1d617d893377df96ccee
https://www.hal.inserm.fr/inserm-00588108