Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis

Autor: Marion Almes, Anne Spraul, Mathias Ruiz, Muriel Girard, Bertrand Roquelaure, Nolwenn Laborde, Fréderic Gottrand, Anne Turquet, Thierry Lamireau, Alain Dabadie, Marjorie Bonneton, Alice Thebaut, Babara Rohmer, Florence Lacaille, Pierre Broué, Alexandre Fabre, Karine Mention-Mulliez, Jérôme Bouligand, Emmanuel Jacquemin, Emmanuel Gonzales

Publikováno v: Diagnostics, Vol 12, Iss 5, p 1169 (2022)

Background: Cholestasis is a frequent and severe condition during childhood. Genetic cholestatic diseases represent up to 25% of pediatric cholestasis. Molecular analysis by targeted-capture next generation sequencing (NGS) has recently emerged as an

Externí odkaz: https://doaj.org/article/71ba909fe65b4bb7be1a22d10e514f3b

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency

Autor: Caroline Espil-Taris, Roland Jaussaud, Guilhem Solé, Christine Vianey-Saban, Karine Mention-Mulliez, Audrey Boutron, Cécile Acquaviva, Isabelle Kim, Dries Dobbelaere, Manuel Schiff, Wim Wuyts, Anne-Frédérique Dessein, Marie Joncquel-Chevalier Curt, Joseph Vamecq, Dominique Roland, Monique Fontaine, Claire Douillard

Publikováno v: Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2018, 123 (4), pp.441-448. ⟨10.1016/j.ymgme.2018.02.005⟩
Molecular genetics and metabolism

International audience; Carnitine palmitoyltransferase type 2 (CPT2) deficiency, a mitochondrial fatty acid oxidation disorder (MFAOD), is a cause of myopathy in its late clinical presentation. As for other MFAODs, its diagnosis may be evocated when

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69da3cdba9308fbca34bb898e7eeac65
https://hal.archives-ouvertes.fr/hal-01847371

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants

Autor: Magalie Barth, Claire Sechter, Anne-Frédérique Dessein, Marie-Christine Minot-Myhié, Gilbert Briand, Claire Douillard, Arnaud Lacour, Delphine Lamireau, Christine Vianey-Saban, Marie Joncquel-Chevalier Curt, Monique Fontaine, Karine Mention-Mulliez, Joseph Vamecq, Niels Gregersen, Isabelle Redonnet-Vernhet, Pascale de Lonlay, Alice Kuster, Cécile Acquaviva, Dries Dobbelaere

Publikováno v: Dessein, A-F, Fontaine, M, Joncquel-Chevalier Curt, M, Briand, G, Sechter, C, Mention-Mulliez, K, Dobbelaere, D, Douillard, C, Lacour, A, Redonnet-Vernhet, I, Lamireau, D, Barth, M, Minot-Myhié, M-C, Kuster, A, de Lonlay, P, Gregersen, N, Acquaviva, C, Vianey-Saban, C & Vamecq, J 2017, ' Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants ', Clinica chimica acta; international journal of clinical chemistry, vol. 471, pp. 101-106 . https://doi.org/10.1016/j.cca.2017.05.026
Clinica Chimica Acta
Clinica Chimica Acta, Elsevier, 2017, 471, pp.101-106. ⟨10.1016/j.cca.2017.05.026⟩

International audience; Background: Despite ACADS (aryl-CoA dehydrogenase, short-chain) gene susceptibility variants (c.511C \textgreater T and c.625G \textgreater A) are considered to be non-pathogenic, encoded proteins are known to exhibit altered

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b7e1f694689d47fbb9ea3ffac5ba347
https://pubmed.ncbi.nlm.nih.gov/28532786

Creatine biosynthesis and transport in health and disease

Autor: Gustavo Soto-Ares, Joseph Vamecq, Karine Mention-Mulliez, Monique Fontaine, Anne-Frédérique Dessein, Dries Dobbelaere, Pia-Manuela Voicu, David Cheillan, Nicole Porchet, Marie Joncquel-Chevalier Curt

Publikováno v: Biochimie
Biochimie, Elsevier, 2015, 119, pp.146-65. ⟨10.1016/j.biochi.2015.10.022⟩

International audience; Creatine is physiologically provided equally by diet and by endogenous synthesis from arginine and glycine with successive involvements of arginine glycine amidinotransferase [AGAT] and guanidinoacetate methyl transferase [GAM

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::150f95abba56dba8b800ff9860a9b109
https://hal.archives-ouvertes.fr/hal-01850486

Creatine and guanidinoacetate reference values in a French population

Autor: Gilles Simard, Gajja S. Salomons, Olivier Douay, Marc Tardieu, François Rivier, Nicole Porchet, Marion Gérard, Gaelle Pitelet, David Cheillan, Jean-Marie Cuisset, François Cartault, Joseph Vamecq, Karine Mention-Mulliez, Delphine Héron, Alice Goldenberg, Vincent des Portes, Richard Delorme, Soumeya Bekri, Brigitte Chabrol, L. Lion-François, Vassili Valayannopoulos, JM Pinard, Jean-François Benoist, Allel Chabli, Gilbert Briand, Kumaran Deiva, Fabienne Prieur, Christine Vianey-Saban, Dries Dobbelaere, Alexandra Afenjar, Marie Joncquel-Chevalier Curt

Publikováno v: Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, Elsevier, 2013, 110 (3), pp.263-267. ⟨10.1016/j.ymgme.2013.09.005⟩
Molecular Genetics and Metabolism, 2013, 110 (3), pp.263-267. ⟨10.1016/j.ymgme.2013.09.005⟩
Joncquel-Cheval Curt, M, Cheillan, D, Briand, G, Salomons, G S, Mention-Mulliez, K, Dobbelaere, D, Cuisset, J M, Lion-Francois, L, Portes, V D, Chabli, A, Valayannopoulos, V, Benoist, J F, Pinard, J M, Simard, G, Douay, O, Deiva, K, Tardieu, M, Afenjar, A, Heron, D, Rivier, F, Chabrol, B, Prieur, F, Cartault, F, Pitelet, G, Goldenberg, A, Bekri, S, Gerard, M, Delorme, R, Porchet, N, Vianey-Saban, C & Vamecq, J 2013, ' Creatine and guanidinoacetate reference values in a French population ', Molecular Genetics and Metabolism, vol. 110, no. 3, pp. 263-267 . https://doi.org/10.1016/j.ymgme.2013.09.005
Molecular Genetics and Metabolism, 110(3), 263-267. Academic Press Inc.

International audience; Creatine and guanidinoacetate are biomarkers of creatine metabolism. Their assays in body fluids may be used for detecting patients with primary creatine deficiency disorders (PCDD), a class of inherited diseases. Their labora

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0938bd011a524ae23b9fc179c541181
https://hal.univ-angers.fr/hal-03276685