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492 results on '"Levade T"'

1. Analyse de survie des patients atteints de déficit en sphingomyélinase acide en France (étude rétrospective de 118 patients diagnostiqués en France entre 1990 et 2020)

Author

Mauhin, W., primary, Guffon, N., additional, Vanier, M.T., additional, Froissart, R., additional, Douillard, C., additional, Heron, B., additional, Belmatoug, N., additional, Uzunhan, Y., additional, Lavigne, C., additional, Pichard, S., additional, Levade, T., additional, Lacombe, D., additional, and Lidove, O., additional

Published
2024
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4. Étude rétrospective multicentrique de 15 cas adultes de xanthomatose cérébrotendineuse : aspects cliniques et paracliniques typiques et atypiques

Author

Lionnet, C., Carra, C., Ayrignac, X., Levade, T., Gayraud, D., Castelnovo, G., Besson, G., Androdias, G., Vukusic, S., Confavreux, C., Zaenker, C., De Seze, J., Collongues, N., Blanc, F., Tranchant, C., Wallon, D., Hannequin, D., Gerdelat-Mas, A., Brassat, D., Clanet, M., Zephir, H., Outteryck, O., Vermersch, P., and Labauge, P.

Published
2014
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6. The clinical spectrum of SMA-PME and in vitro normalization of its cellular ceramide profile

Author

Lee, MM, McDowell, GS, De Vivo, DC, Friedman, D, Berkovic, SF, Spanou, M, Dinopoulos, A, Grand, K, Sanchez-Lara, PA, Allen-Sharpley, M, Warman-Chardon, J, Solyom, A, Levade, T, Schuchman, EH, Bennett, SAL, Dyment, DA, Pearson, TS, Lee, MM, McDowell, GS, De Vivo, DC, Friedman, D, Berkovic, SF, Spanou, M, Dinopoulos, A, Grand, K, Sanchez-Lara, PA, Allen-Sharpley, M, Warman-Chardon, J, Solyom, A, Levade, T, Schuchman, EH, Bennett, SAL, Dyment, DA, and Pearson, TS

Abstract

OBJECTIVE: The objectives of this study were to define the clinical and biochemical spectrum of spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME) and to determine if aberrant cellular ceramide accumulation could be normalized by enzyme replacement. METHODS: Clinical features of 6 patients with SMA-PME were assessed by retrospective chart review, and a literature review of 24 previously published cases was performed. Leukocyte enzyme activity of acid ceramidase was assessed with a fluorescence-based assay. Skin fibroblast ceramide content and was assessed by high performance liquid chromatography, electrospray ionization tandem mass spectroscopy. Enzyme replacement was assessed using recombinant human acid ceramidase (rhAC) in vitro. RESULTS: The six new patients showed the hallmark features of SMA-PME, with variable initial symptom and age of onset. Five of six patients carried at least one of the recurrent SMA-PME variants observed in two specific codons of ASAH1. A review of 30 total cases revealed that patients who were homozygous for the most common c.125C > T variant presented in the first decade of life with limb-girdle weakness as the initial symptom. Sensorineural hearing loss was associated with the c.456A > C variant. Leukocyte acid ceramidase activity varied from 4.1%-13.1% of controls. Ceramide species in fibroblasts were detected and total cellular ceramide content was elevated by 2 to 9-fold compared to controls. Treatment with rhAC normalized ceramide profiles in cultured fibroblasts to control levels within 48 h. INTERPRETATION: This study details the genotype-phenotype correlations observed in SMA-PME and shows the impact of rhAC to correct the abnormal cellular ceramide profile in cells.

Published
2022

15. Reactive oxygen species production by mitochondria in endothelial cells exposed to reoxygenation after hypoxia and glucose depletion is mediated by ceramide

Author

Therade-Matharan, S., Laemmel, E., Carpentier, S., Obata, Y., Levade, T., Duranteau, J., and Vicaut, E.

Subjects
Endothelium -- Research, Mitochondria -- Research, Ceramides -- Health aspects, Biological sciences
Abstract

In endothelium, reoxygenation after hypoxia (H/R) has been shown to induce production of reactive oxygen species (ROS) by complex III of the mitochondrial respiratory chain. The purpose of the present study was to test the involvement of ceramide in this phenomenon. Human umbilical vein endothelial cells underwent 2 h of hypoxia ([P.sub.[O.sub.2]], ~20 mmHg) without glucose and 1 h of reoxygenation ([P.sub.[O.sub.2]], ~120 mmHg) with glucose. ROS production was measured by the fluorescent marker 2',7'-dichlorodihydrofluorescein diacetate, and cell death by propidium iodide. We showed that 1) after 1 h of reoxygenation, fluorescence had risen and that ROS production was inhibited by desipramine, an inhibitor of sphingomyelinase, an enzyme responsible for ceramide production (126 [+ or -] 7% vs. 48 [+ or -] 12%, P < 0.05); 2) administration of ceramide (N-acetylsphingosine) per se (i.e., in the absence of H/R) induced ROS production (65 [+ or -] 3%), which was inhibited by complex III inhibitor: antimycin A (24 [+ or -] 3%, P < 0.0001), or stigmatellin (31 [+ or -] 2%, P < 0.0001); 3) hypoxia/reoxygenation-induced ROS production was not affected by either ceramide-activated protein kinase inhibitor dimethyl aminopurine or mitochondrial permeability transition inhibitor cyclosporin A but was significantly inhibited by the antiapoptotic protein Bc1-2 (82 [+ or -] 8%, P < 0.05) ; 4) ceramide-induced ROS production was also inhibited by Bcl-2 (41 [+ or -] 4%, P < 0.0001). These results demonstrate that in endothelial cells submitted to hypoxia and glucose depletion followed by reoxygenation with glucose, the pathway implicated in mitochondrial complex III ROS production is ceramide dependent and is decreased by the antiapoptotic protein Bcl-2. [H.sub.2][O.sub.2]

Published
2005

22. Effects of miglustat therapy on neurological disorder and survival in early-infantile Niemann-Pick disease type C: A national French retrospective study

Author

Freihuber, C., primary, Dahmani, B., additional, Brassier, A., additional, Broue, P., additional, Cances, C., additional, Chabrol, B., additional, Eyer, D., additional, Labarthe, F., additional, Latour, P., additional, Levade, T., additional, Pichard, S., additional, Sevin, C., additional, Vanier, M.T., additional, and Héron, B., additional

Published
2017
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32. Danon disease: Further clinical and molecular heterogeneity

Author

Sabourdy, F. Michelakakis, H. Anastasakis, A. Garcia, V. Mavridou, I. Nieto, M. Pons, M.-C. Skiadas, C. Moraitou, M. Manta, P. Elleder, M. Levade, T.

Abstract

Two families of Greek patients with subclinical to severe cardiomyopathy are presented. The diagnosis of Danon disease was supported by a total lack of LAMP2 immunostaining in cultured skin fibroblasts and muscle biopsies. The LAMP2 mutation carried by one patient (c.928G>A) has already been reported but with different symptoms. The second patient had a novel point deletion. This has not been described previously, but it could be detected easily by restriction analysis. This mutation was also found in the patient's brother, and it was associated with severe cardiomyopathy leading to heart failure. Surprisingly, the proband also had partial reduction of α-galactosidase A activity, despite the absence of characteristic clinical features of Fabry disease. A substitution in the GLA gene (c.937G>T) was found, and its involvement in the cardiac disease is discussed. © 2009 Wiley Periodicals, Inc.

Published
2009

33. Is fumonisin B1 a specific dihydroceramide synthase ihibitor ?

Author

Loiseau, Nicolas, Viadère, JL, Loy, Jennifer, Rakotonirainy, M, Puel, Olivier, Levade, T, Galtier, Pierre, ProdInra, Migration, Toxicologie Intégrative & Métabolisme (ToxAlim-TIM), ToxAlim (ToxAlim), Institut National de la Recherche Agronomique (INRA)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National Polytechnique (Toulouse) (Toulouse INP), Université Fédérale Toulouse Midi-Pyrénées-Ecole d'Ingénieurs de Purpan (INPT - EI Purpan), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Recherche Agronomique (INRA)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Unité de recherche Pharmacologie-Toxicologie (UPT), Institut National de la Recherche Agronomique (INRA), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Ecole Nationale Vétérinaire de Toulouse (ENVT), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Ecole d'Ingénieurs de Purpan (INPT - EI Purpan), and Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Recherche Agronomique (INRA)

Subjects
[SDV] Life Sciences [q-bio], [SDV]Life Sciences [q-bio], ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2007

35. Cholesteryl ester storage disease: a predominant lipa genotype underlies disease manifestations and progression - A review of 12 french cases.

Author

Benlian, P., primary, Lacaille, F., additional, Mary, S., additional, Feillet, F., additional, Noel, E., additional, Eyer, D., additional, Gottrand, F., additional, Ouzounian, S., additional, Musikas, M., additional, Peretti, N., additional, Boidin-Ceschini, L., additional, Willefert, M., additional, Levade, T., additional, Froissard, R., additional, and Valayannopoulos, V., additional

Published
2014
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36. Downregulation of ceramide synthase-6 during epithelial-to-mesenchymal transition reduces plasma membrane fluidity and cancer cell motility

Author

Edmond, V, primary, Dufour, F, additional, Poiroux, G, additional, Shoji, K, additional, Malleter, M, additional, Fouqué, A, additional, Tauzin, S, additional, Rimokh, R, additional, Sergent, O, additional, Penna, A, additional, Dupuy, A, additional, Levade, T, additional, Theret, N, additional, Micheau, O, additional, Ségui, B, additional, and Legembre, P, additional

Published
2014
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37. Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy Is Caused by Mutations in ASAH1

Author

Zhou, J, Tawk, M, Tiziano, Francesco Danilo, Veillet, J, Bayes, M, Nolent, F, Garcia, V, Servidei, Serenella, Bertini, E, Castro Giner, F, Renda, Y, Carpentier, S, Andrieu Abadie, N, Gut, I, Levade, T, Topaloglu, H, Melki, J., Tiziano, Francesco Danilo (ORCID:0000-0002-5545-6158), Servidei, Serenella (ORCID:0000-0001-8478-2799), Zhou, J, Tawk, M, Tiziano, Francesco Danilo, Veillet, J, Bayes, M, Nolent, F, Garcia, V, Servidei, Serenella, Bertini, E, Castro Giner, F, Renda, Y, Carpentier, S, Andrieu Abadie, N, Gut, I, Levade, T, Topaloglu, H, Melki, J., Tiziano, Francesco Danilo (ORCID:0000-0002-5545-6158), and Servidei, Serenella (ORCID:0000-0001-8478-2799)

Abstract

Spinal muscular atrophy (SMA) is a clinically and genetically heterogeneous disease characterized by the degeneration of lower motor neurons. The most frequent form is linked to mutations in SMN1. Childhood SMA associated with progressive myoclonic epilepsy (SMA-PME) has been reported as a rare autosomal-recessive condition unlinked to mutations in SMN1. Through linkage analysis, homozygosity mapping, and exome sequencing in three unrelated SMA-PME-affected families, we identified a homozygous missense mutation (c.125C>T [p.Thr42Met]) in exon 2 of ASAH1 in the affected children of two families and the same mutation associated with a deletion of the whole gene in the third family. Expression studies of the c.125C>T mutant cDNA in Farber fibroblasts showed that acid-ceramidase activity was only 32% of that generated by normal cDNA. This reduced activity was able to normalize the ceramide level in Farber cells, raising the question of the pathogenic mechanism underlying the CNS involvement in deficient cells. Morpholino knockdown of the ASAH1 ortholog in zebrafish led to a marked loss of motor-neuron axonal branching, a loss that is associated with increased apoptosis in the spinal cord. Our results reveal a wide phenotypic spectrum associated with ASAH1 mutations. An acid-ceramidase activity below 10% results in Farber disease, an early-onset disease starting with subcutaneous lipogranulomata, joint pain, and hoarseness of the voice, whereas a higher residual activity might be responsible for SMA-PME, a later-onset phenotype restricted to the CNS and starting with lower-motor-neuron disease.

Published
2012

38. Phosphatidylcholine-specific phospholipase C and phospholipase D are respectively implicated in mitogen-activated protein kinase and nuclear factor kappaB activation in tumour-necrosis-factor-alpha-treated immature acute-myeloid-leukaemia cells

Author

Plo, I, Lautier, D, Levade, T, Sekouri, H, Jaffrézou, J P, Laurent, G, and Bettaïeb, A

Subjects
Time Factors, MAP Kinase Signaling System, Phosphorylcholine, Phosphatidic Acids, Antineoplastic Agents, Diglycerides, Phosphatidylinositol 3-Kinases, Phospholipase D, Tumor Cells, Cultured, Humans, Enzyme Inhibitors, Cell Nucleus, Mitogen-Activated Protein Kinase 1, Mitogen-Activated Protein Kinase 3, Dose-Response Relationship, Drug, Tumor Necrosis Factor-alpha, Hydrolysis, NF-kappa B, Enzyme Activation, Leukemia, Myeloid, Acute, Type C Phospholipases, lipids (amino acids, peptides, and proteins), Mitogen-Activated Protein Kinases, Cell Division, Research Article, Signal Transduction
Abstract

Tumour necrosis factor-alpha (TNFalpha) has been reported to induce potent growth inhibition of committed myeloid progenitor cells, whereas it is a potential growth stimulator of human CD34(+)CD38(-) multipotent haematopoietic cells. The present study was aimed at evaluating the respective role of two phospholipases, phosphatidylcholine-specific phospholipase C (PC-PLC) and phospholipase D (PLD) in the response of the CD34(+) CD38(-) KG1a cells to TNFalpha. In these cells TNFalpha triggered phosphoinositide 3-kinase (PI3K)-dependent PC hydrolysis within 4-8 min with concomitant production of both diacylglycerol (DAG) and phosphocholine (P-chol). DAG and P-chol production was accompanied by extracellular-signal-related protein kinase-1 ('ERK-1') activation and DNA-synthesis stimulation. PC-PLC stimulation was followed by PI3K-independent PLD activation with concomitant phosphatidic acid (PA) production followed by PA-derived DAG accumulation and sustained nuclear factor kappaB (NF-kappaB) activation. PLD/NF-kappaB signalling activation played no role in the TNFalpha proliferative effect and conferred no consistent protection of KG1a cells towards antileukaemic agents. Altogether these results suggest that, in KG1a cells, TNFalpha can stimulate in parallel PC-PLC and PLD, whose lipid products activate in turn mitogen-activated protein kinase (MAP kinase) and NF-kappaB signalling respectively. Finally, our study suggests that PC-PLC, but not PLD, plays a role in the TNFalpha proliferative effect in immature myeloid cells.

Published
2000

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