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1. Dynamical structure of the pulsating atmosphere of RR Lyr - I. A typical pulsation cycle

Author

Gillet, D., Mauclaire, B., Lemoult, T., Mathias, Ph., Devaux, J-S., de France, Th., Garrel, T., and Collaboration, the GRRR

Subjects
Astrophysics - Solar and Stellar Astrophysics
Abstract

RRab stars are large amplitude pulsating stars in which the pulsation is associated with strong shock wake propagating in the atmosphere. The objective of this study is to provide a general overview of the dynamical structure of the atmosphere occurring over a typical pulsation cycle. We report new high-resolution observations with high time resolution of H$\alpha$ and sodium lines in the brightest RR Lyrae star of the sky: RR Lyr (HD 182989). A detailed analysis of line profile variations over the whole pulsation cycle is performed to understand the dynamical structure of the atmosphere. The main shock wave appears when it exits from the photosphere at $\varphi\simeq0.89$, i.e., when the main H$\alpha$ emission is observed. Whereas the acceleration phase of the shock is not observed, a significant deceleration of the shock front velocity is clearly present. The radiative stage of the shock wave is short: $4\%$ of the pulsation period ($0.892<\varphi<0.929$). A Mach number $M>10$ is required to get such a radiative shock. The sodium layer reaches its maximum expansion well before that of H$\alpha$ ($\Delta\varphi=0.135$). Thus, a rarefaction wave is induced between the H$\alpha$ and sodium layers. A strong atmospheric compression occurring around $\varphi=0.36$, which produces the third H$\alpha$ emission, takes place in the highest part of the atmosphere. The region located lower in the atmosphere where the sodium line is formed is not involved. The amplification of gas turbulence seems mainly due to strong shock waves propagating in the atmosphere rather than to the global compression of the atmosphere caused by the pulsation. It has not yet been clearly established whether the microturbulence velocity increases or decreases with height in the atmosphere. Furthermore, it seems very probable that an interstellar component is visible within the sodium profile., Comment: 18 pages, 8 figures, 8 tables, accepted in A&A; typos added

Published
2019
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2. First observation of H$\alpha$ redshifted emission in RR Lyr

Author

Gillet, D., Mauclaire, B., Garrel, T., Lemoult, T., Mathias, Ph., de France, T., Devaux, J-S., Boussier, H., Verilhac, D., Brabant, G., Desbordes, J., Garde, O., and Collaboration, the GRRR

Subjects
Astrophysics - Solar and Stellar Astrophysics
Abstract

The so-called H$\alpha$ third emission occurs around pulsation phase $\varphi$=0.30. It has been observed for the first time in 2011 in some RR Lyrae stars. The emission intensity is very weak, and its profile is a tiny persistent hump in the red side-line profile. We report the first observation of the H$\alpha$ third emission in RR Lyr itself (HD 182989), the brightest RR Lyrae star in the sky. New spectra were collected in 2013-2014 with the Aurelie}spectrograph (resolving power R=22$\,$700, T152, Observatoire de Haute-Provence, France) and in 2016-2017 with the eShel spectrograph (R=11$\,$000, T035, Observatoire de Chelles, France). In addition, observations obtained in 1997 with the Elodie spectrograph (R=42$\,$000, T193, Observatoire de Haute-Provence, France) were reanalyzed. The H$\alpha$ third emission is clearly detected in the pulsation phase interval $\varphi$=0.188-0.407, that is, during about 20% of the period. Its maximum flux with respect to the continuum is about 13%. The presence of this third emission and its strength both seem to depend only marginally on the Blazhko phase. The physical origin of the emission is probably due to the infalling motion of the highest atmospheric layers, which compresses and heats the gas that is located immediately above the rising shock wave. The infalling velocity of the hot compressed region is supersonic, almost 50 km$\cdot$s$^{-1}$, while the shock velocity may be much lower in these pulsation phases. When the H$\alpha$ third emission appears, the shock is certainly no longer radiative because its intensity is not sufficient to produce a blueshifted emission component within the H$\alpha$ profile. At phase $\varphi$=0.40, the shock wave is certainly close to its complete dissipation in the atmosphere., Comment: 10 pages, 9 figures, 2 tables, accepted in A&A

Published
2017
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3. Theme 2 Genetics and Genomics.

Author

Mrkela, M., Rodrigues, M., Naidoo, S., Devaux, J., Kirk, S., Vinnakota, C., Buchanan, C., Mulroy, D., Fraser, H., Jacobsen, J., Wyatt, H., Drake, K., Parker, E., Potter, H., Henden, L., McCann, E., Williams, K., Henders, A., Roxburgh, R., and Scotter, E.

Subjects
GENE expression, SYNCRIP protein, GENETIC variation, HEREDITY, GENETIC testing, FRONTOTEMPORAL lobar degeneration
Abstract

The document delves into genetic studies on Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) in various countries, including New Zealand, China, and Japan. It discusses the identification of genetic variants in MND-linked genes, ALS pathogenic genes in juvenile patients, and genes affecting age at onset in Japanese ALS patients. The text also covers genetic testing for ALS, the impact of genetic results on patients and families, and the development of educational resources on genetic counseling and testing for ALS. Additionally, it explores studies on SOD1 variants, the role of FUS in ALS pathogenesis, and the importance of collaborative efforts like Project MinE and the New York Genome Center ALS Consortium in advancing ALS research. [Extracted from the article]

Published
2024
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5. Search for neutral Higgs bosons decaying into four taus at LEP2

Author

ALEPH Collaboration, Schael, S., Barate, R., Brunelière, R., De Bonis, I., Decamp, D., Goy, C., Jézéquel, S., Lees, J. -P., Martin, F., Merle, E., Minard, M. -N., Pietrzyk, B., Bravo, B. Trocmé S., Casado, M. P., Chmeissani, M., Crespo, J. M., Fernandez, E., Fernandez-Bosman, M., Garrido, Ll., Martinez, M., Pacheco, A., Ruiz, H., Colaleo, A., Creanza, D., De Filippis, N., de Palma, M., Iaselli, G., Maggi, G., Maggi, M., Nuzzo, S., Ranieri, A., Raso, G., Ruggieri, F., Selvaggi, G., Silvestris, L., Tempesta, P., Tricomi, A., Huang, G. Zito X., Lin, J., Ouyang, Q., Wang, T., Xie, Y., Xu, R., Xue, S., Zhang, J., Zhang, L., Zhao, W., Abbaneo, D., Barklow, T., Buchmüller, O., Cattaneo, M., Clerbaux, B., Drevermann, H., Forty, R. W., Frank, M., Gianotti, F., Hansen, J. B., Harvey, J., Hutchcroft, D. E., Janot, P., Jost, B., Kado, M., Mato, P., Moutoussi, A., Ranjard, F., Rolandi, L., Schlatter, D., Teubert, F., Valassi, A., Monteil, I. Videau S., Pallin, D., Pascolo, J. M., Perret, P., Hansen, J. D., Hansen, J. R., Hansen, P. H., Kraan, A. C., Kyriakis, B. S. Nilsson A., Markou, C., Simopoulou, E., Vayaki, A., Blondel, K. Zachariadou A., Brient, J. -C., Machefert, F., Rougé, A., Videau, H., Ciulli, V., Focardi, E., Parrini, G., Antonelli, A., Antonelli, M., Bencivenni, G., Bossi, F., Capon, G., Cerutti, F., Chiarella, V., Laurelli, P., Mannocchi, G., Murtas, G. P., Passalacqua, L., Kennedy, J., Lynch, J. G., Negus, P., O'Shea, V., Thompson, A. S., Cavanaugh, R., Dhamotharan, S., Geweniger, C., Hanke, P., Hepp, V., Kluge, E. E., Putzer, A., Stenzel, H., Tittel, K., Wunsch, M., Beuselinck, R., Cameron, W., Davies, G., Dornan, P. J., Girone, M., Marinelli, N., Nowell, J., Rutherford, S. A., Sedgbeer, J. K., Thompson, J. C., White, R., Ghete, V. M., Girtler, P., Kneringer, E., Kuhn, D., Rudolph, G., Bouhova-Thacker, E., Bowdery, C. K., Clarke, D. P., Ellis, G., Finch, A. J., Foster, F., Hughes, G., Jones, R. W. L., Pearson, M. R., Robertson, N. A., Sloan, T., Smizanska, M., van der Aa, O., Delaere, C., Leibenguth, G., Blumenschein, V. Lemaitre U., Hölldorfer, F., Jakobs, K., Kayser, F., Müller, A. -S., Renk, B., Sander, H. -G., Schmeling, S., Wachsmuth, H., Zeitnitz, C., Bonissent, T. Ziegler A., Coyle, P., Curtil, C., Ealet, A., Fouchez, D., Payre, P., Tilquin, A., Ragusa, F., David, A., Dietl, H., Ganis, G., Hüttmann, K., Lütjens, G., Moser, W. Männer H. -G., Settles, R., Villegas, M., Wolf, G., Beacham, J., Yavin, K. Cranmer I., Boucrot, J., Callot, O., Davier, M., Duflot, L., Grivaz, J. -F., Heusse, Ph., Jacholkowska, A., Serin, L., Veille, J. -J., Azzurri, P., Bagliesi, G., Boccali, T., Foà, L., Giammanco, A., Giassi, A., Ligabue, F., Messineo, A., Palla, F., Sanguinetti, G., Sciabà, A., Sguazzoni, G., Spagnolo, P., Tenchini, R., Venturi, A., Awunor, P. G. Verdini O., Blair, G. A., Cowan, G., Garcia-Bellido, A., Green, M. G., Medcalf, T., Misiejuk, A., Strong, J. A., Teixeira-Dias, P., Clifft, R. W., Edgecock, T. R., Norton, P. R., Tomalin, I. R., Bloch-Devaux, J. J. Ward B., Boumediene, D., Colas, P., Fabbro, B., Lançon, E., Lemaire, M. -C., Locci, E., Perez, P., Rander, J., Tuchming, B., Vallage, B., Litke, A. M., Taylor, G., Booth, C. N., Cartwright, S., Combley, F., Hodgson, P. N., Lehto, M., Thompson, L. F., Böhrer, A., Brandt, S., Grupen, C., Hess, J., Ngac, A., Borean, G. Prange C., Giannini, G., He, H., Putz, J., Rothberg, J., Armstrong, S. R., Berkelman, K., Ferguson, D. P. S., Gao, Y., González, S., Hayes, O. J., Hu, H., Jin, S., Kile, J., McNamara III, P. A., Nielsen, J., Pan, Y. B., von Wimmersperg-Toeller, J. H., Wiedenmann, W., Wu, J., Wu, Sau Lan, Wu, X., Zobernig, G., and Dissertori, G.

Subjects
High Energy Physics - Experiment, High Energy Physics - Phenomenology
Abstract

A search for the production and non-standard decay of a Higgs boson, h, into four taus through intermediate pseudoscalars, a, is conducted on 683 pb-1 of data collected by the ALEPH experiment at centre-of-mass energies from 183 to 209 GeV. No excess of events above background is observed, and exclusion limits are placed on the combined production cross section times branching ratio, \xi^2 = \sigma(e+e- --> Zh)/\sigma_{SM}(e+e- --> Zh) x B(h --> aa)x B(a --> \tau^+\tau^-)^2. For mh < 107 GeV/c2 and 4 < ma < 10 GeV/c2, \xi^2 > 1 is excluded at the 95% confidence level., Comment: 18 pages, 16 figures

Published
2010
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8. 32nd International Austrian Winter Symposium: Zell am See, the Netherlands. 20-23 January 2016

Author

Langsteger, W, Rezaee, A, Loidl, W, Geinitz, HS, Fitz, F, Steinmair, M, Broinger, G, Pallwien-Prettner, L, Beheshti, M, Imamovic, L, Beheshti, M, Rendl, G, Hackl, D, Tsybrovsky, O, Steinmair, M, Emmanuel, K, Moinfar, F, Pirich, C, Langsteger, W, Bytyqi, A, Karanikas, G, Mayerhöfer, M, Koperek, O, Niederle, B, Hartenbach, M, Beyer, T, Herrmann, K, Czernin, J, Rausch, I, Rust, P, DiFranco, MD, Lassen, M, Stadlbauer, A, Mayerhöfer, ME, Hartenbach, M, Hacker, M, Beyer, T, Binzel, K, Magnussen, R, Wei, W, Knopp, MU, Flanigan, DC, Kaeding, C, Knopp, MV, Leisser, A, Nejabat, M, Hartenbach, M, Kramer, G, Krainer, M, Hacker, M, Haug, A, Lehnert, Wencke, Schmidt, Karl, Kimiaei, Sharok, Bronzel, Marcus, Kluge, Andreas, Wright, CL, Binzel, K, Zhang, J, Wuthrick, Evan, Maniawski, Piotr, Knopp, MV, Blaickner, M, Rados, E, Huber, A, Dulovits, M, Kulkarni, H, Wiessalla, S, Schuchardt, C, Baum, RP, Knäusl, B, Georg, D, Bauer, M, Wulkersdorfer, B, Wadsak, W, Philippe, C, Haslacher, H, Zeitlinger, M, Langer, O, Bauer, M, Feldmann, M, Karch, R, Wadsak, W, Zeitlinger, M, Koepp, MJ, Asselin, M-C, Pataraia, E, Langer, O, Zeilinger, M, Philippe, C, Dumanic, M, Pichler, F, Pilz, J, Hacker, M, Wadsak, W, Mitterhauser, M, Nics, L, Steiner, B, Hacker, M, Mitterhauser, M, Wadsak, W, Traxl, A, Wanek, Thomas, Kryeziu, Kushtrim, Mairinger, Severin, Stanek, Johann, Berger, Walter, Kuntner, Claudia, Langer, Oliver, Mairinger, S, Wanek, T, Traxl, A, Krohn, M, Stanek, J, Filip, T, Sauberer, M, Kuntner, C, Pahnke, J, Langer, O, Svatunek, D, Denk, C, Wilkovitsch, M, Wanek, T, Filip, T, Kuntner-Hannes, C, Fröhlich, J, Mikula, H, Denk, C, Svatunek, D, Wanek, T, Mairinger, S, Stanek, J, Filip, T, Fröhlich, J, Mikula, H, Kuntner-Hannes, C, Balber, T, Singer, J, Fazekas, J, Rami-Mark, C, Berroterán-Infante, N, Jensen-Jarolim, E, Wadsak, W, Hacker, M, Viernstein, H, Mitterhauser, M, Denk, C, Svatunek, D, Sohr, B, Mikula, H, Fröhlich, J, Wanek, T, Kuntner-Hannes, C, Filip, T, Pfaff, S, Philippe, C, Mitterhauser, M, Hartenbach, M, Hacker, M, Wadsak, W, Wanek, T, Halilbasic, E, Visentin, M, Mairinger, S, Stieger, B, Kuntner, C, Trauner, M, Langer, O, Lam, P, Aistleitner, M, Eichinger, R, Artner, C, Eidherr, H, Vraka, C, Haug, A, Mitterhauser, M, Nics, L, Hartenbach, M, Hacker, M, Wadsak, W, Kvaternik, H, Müller, R, Hausberger, D, Zink, C, Aigner, RM, Cossío, U, Asensio, M, Montes, A, Akhtar, S, te Welscher, Y, van Nostrum, R, Gómez-Vallejo, V, Llop, J, VandeVyver, F, Barclay, T, Lippens, N, Troch, M, Hehenwarter, L, Egger, B, Holzmannhofer, J, Rodrigues-Radischat, M, Pirich, C, Pötsch, N, Rausch, I, Wilhelm, D, Weber, M, Furtner, J, Karanikas, G, Wöhrer, A, Mitterhauser, M, Hacker, M, Traub-Weidinger, T, Cassou-Mounat, T, Balogova, S, Nataf, V, Calzada, M, Huchet, V, Kerrou, K, Devaux, J-Y, Mohty, M, Garderet, L, Talbot, J-N, Stanzel, S, Pregartner, G, Schwarz, T, Bjelic-Radisic, V, Liegl-Atzwanger, B, Aigner, R, Stanzel, S, Quehenberger, F, Aigner, RM, Marković, A Koljević, Janković, Milica, Jerković, V Miler, Paskaš, M, Pupić, G, Džodić, R, Popović, D, Fornito, MC, Familiari, D, Koranda, P, Polzerová, H, Metelková, I, Henzlová, L, Formánek, R, Buriánková, E, Kamínek, M, Thomson, WH, Lewis, C, Thomson, WH, O’Brien, J, James, G, Notghi, A, Huber, H, Stelzmüller, I, Wunn, R, Mandl, M, Fellner, F, Lamprecht, B, Gabriel, M, Fornito, MC, Leonardi, G, Thomson, WH, O’Brien, J, James, G, Hudzietzová, J, Sabol, J, and Fülöp, M

Published
2016
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10. Paradoxes of Hymenoptera flight muscles, extreme machines

Author

Hickey, T, Devaux, J, Rajagopal, V, Power, A, Crossman, D, Hickey, T, Devaux, J, Rajagopal, V, Power, A, and Crossman, D

Abstract

In the Carboniferous, insects evolved flight. Intense selection drove for high performance and approximately 100 million years later, Hymenoptera (bees, wasps and ants) emerged. Some species had proportionately small wings, with apparently impossible aerodynamic challenges including a need for high frequency flight muscles (FMs), powered exclusively off aerobic pathways and resulting in extreme aerobic capacities. Modern insect FMs are the most refined and form large dense blocks that occupy 90% of the thorax. These can beat wings at 200 to 230 Hz, more than double that achieved by standard neuromuscular systems. To do so, rapid repolarisation was circumvented through evolution of asynchronous stimulation, stretch activation, elastic recoil and a paradoxically slow Ca2+ reuptake. While the latter conserves ATP, considerable ATP is demanded at the myofibrils. FMs have diminished sarcoplasmic volumes, and ATP is produced solely by mitochondria, which pack myocytes to maximal limits and have very dense cristae. Gaseous oxygen is supplied directly to mitochondria. While FMs appear to be optimised for function, several unusual paradoxes remain. FMs lack any significant equivalent to the creatine kinase shuttle, and myofibrils are twice as wide as those of within cardiomyocytes. The mitochondrial electron transport systems also release large amounts of reactive oxygen species (ROS) and respiratory complexes do not appear to be present at any exceptional level. Given that the loss of the creatine kinase shuttle and elevated ROS impairs heart function, we question how do FM shuttle adenylates at high rates and tolerate oxidative stress conditions that occur in diseased hearts?

Published
2022

12. IgG4 Valency Modulates the Pathogenicity of Anti-Neurofascin-155 IgG4 in Autoimmune Nodopathy

Author

Jentzer, A, Attal, A, Roue, C, Raymond, J, Lleixa, C, Illa, I, Querol, L, Taieb, G, and Devaux, J

Abstract

Background and Objectives IgG4 autoantibodies to neurofascin-155 (Nfasc155) are associated with a subgroup of patients with chronic inflammatory demyelinating polyneuropathy (CIDP), currently named autoimmune nodopathy. We previously demonstrated that those antibodies alter conduction along myelinated axons by inducing Nfasc155 depletion and paranode destruction. In blood, IgG4 have the potency to exchange their moiety with other unrelated IgG4 through a process called Fab-arm exchange (FAE). This process results in functionally monovalent antibodies and may affect the pathogenicity of autoantibodies. Here, we examined this issue and whether FAE is beneficial or detrimental for Nfasc155 autoimmune nodopathy. Methods The bivalency and monospecificity of anti-Nfasc155 were examined by sandwich ELISA in 10 reactive patients, 10 unreactive CIDP patients, and 10 healthy controls. FAE was induced in vitro using reduced glutathione and unreactive IgG4, and the ratio of the kappa:lambda light chain was monitored. To determine the pathogenic potential of bivalent anti-Nfasc155 IgG4, autoantibodies derived from patients were enzymatically cleaved into monovalent Fab and bivalent F(ab')(2) or swapped with unreactive IgG4 and then were injected in neonatal animals. Results Monospecific bivalent IgG4 against Nfasc155 were detected in the serum of all reactive patients, indicating that a fraction of IgG4 have not undergone FAE in situ. These IgG4 were, nonetheless, capable of engaging into FAE with unreactive IgG4 in vitro, and this decreased the levels of monospecific antibodies and modulated the ratio of the kappa:lambda light chain. When injected in animals, monovalent anti-Nfasc155 Fab did not alter the formation of paranodes; by contrast, both native anti-Nfasc155 IgG4 and F(ab')(2) fragments strongly impaired paranode formation. The promotion of FAE with unreactive IgG4 also strongly diminished the pathogenic potential of anti-Nfasc155 IgG4 in animals and decreased IgG4 clustering on Schwann cells. Discussion Our findings demonstrate that monospecific and bivalent anti-Nfasc155 IgG4 are detected in patients and that those autoantibodies are the pathogenic ones. The transformation of anti-Nfasc155 IgG4 into monovalent Fab or functionally monovalent IgG4 through FAE strongly decreases paranodal alterations. Bivalency thus appears crucial for Nfasc155 clustering and paranode destruction.

Published
2022

21. Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Author

Efthymiou, S., Salpietro, V., Malintan, N., Poncelet, M., Kriouile, Y., Fortuna, S., Zorzi, R. de, Payne, K., Henderson, L.B., Cortese, A., Maddirevula, S., Alhashmi, N., Wiethoff, S., Ryten, M., Botia, J.A., Provitera, V., Schuelke, M., Vandrovcova, J., Groppa, S., Karashova, B.M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Goraya, J.S., Sultan, T., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M.D., Maagdenberg, A.M.J.M. van den, Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A.M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B.M., Boles, R., Papacostas, S., Vikelis, M., Rothman, J., Kullmann, D., Papanicolaou, E.Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N.N., Atawneh, O., Lim, S.Y., Shaikh, F., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y.A., Minetti, C., Al-Khawaja, I., Al-Mutairi, F., Hamed, S., Pipis, M., Bettencourt, C., Rinaldi, S., Walsh, L., Torti, E., Iodice, V., Najafi, M., Karimiani, E.G., Maroofian, R., Siquier-Pernet, K., Boddaert, N., Lonlay, P. de, Cantagrel, V., Aguennouz, M., Khorassani, M. el, Schmidts, M., Alkuraya, F.S., Edvardson, S., Nolano, M., Devaux, J., Houlden, H., SYNAPS Study Grp, Efthymiou, S., Salpietro, V., Malintan, N., Poncelet, M., Kriouile, Y., Fortuna, S., De Zorzi, R., Payne, K., Henderson, L. B., Cortese, A., Maddirevula, S., Alhashmi, N., Wiethoff, S., Ryten, M., Botia, J. A., Provitera, V., Schuelke, M., Vandrovcova, J., Walsh, L., Torti, E., Iodice, V., Najafi, M., Karimiani, E. G., Maroofian, R., Siquier-Pernet, K., Boddaert, N., De Lonlay, P., Cantagrel, V., Aguennouz, M., El Khorassani, M., Schmidts, M., Alkuraya, F. S., Edvardson, S., Nolano, M., Devaux, J., Houlden, H., Groppa, S., Karashova, B. M., Nachbauer, W., Boesch, S., Arning, L., Timmann, D., Cormand, B., Perez-Duenas, B., Goraya, J. S., Sultan, T., Mine, J., Avdjieva, D., Kathom, H., Tincheva, R., Banu, S., Pineda-Marfa, M., Veggiotti, P., Ferrari, M. D., Van Den Maagdenberg, A. M. J. M., Verrotti, A., Marseglia, G., Savasta, S., Garcia-Silva, M., Ruiz, A. M., Garavaglia, B., Borgione, E., Portaro, S., Sanchez, B. M., Boles, R., Papacostas, S., Vikelis, M., Rothman, J., Kullmann, D., Papanicolaou, E. Z., Dardiotis, E., Maqbool, S., Ibrahim, S., Kirmani, S., Rana, N. N., Atawneh, O., Lim, S. -Y., Shaikh, F., Koutsis, G., Breza, M., Mangano, S., Scuderi, C., Morello, G., Stojkovic, T., Zollo, M., Heimer, G., Dauvilliers, Y. A., Minetti, C., Al-Khawaja, I., Al-Mutairi, F., Hamed, S., Pipis, M., Bettencourt, C., Rinaldi, S., Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Laboratory of Molecular Biophysics, Department of Biochemistry, Department of Biochemistry, Hertie Institute for Clinical Brain Research and Center for Neurology, University of Tübingen, Department of Medical and Molecular Genetics, King‘s College London, Department of Human Genetics, Ruhr University Bochum (RUB), Universitat de Barcelona (UB), Fondazione, Leiden University Medical Center (LUMC), Department of Physiology and Cellular Biophysics [New York, NY, USA], Columbia University College of Physicians and Surgeons, Department of Microbiology, Università degli studi di Catania [Catania], Institut de Myologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Ceinge, centro di Ingegneria Genetica e Biotecnologie Avanzate, Unité des troubles du sommeil, Centre de référence national sur les maladies rares (narcolepsie, hypersomnie idiopathique, syndrome de Kleine-Levin)-Hôpital Gui-de-Chauliac, Muscular and Neurodegenerative Disease Unit, University of Genoa (UNIGE), Department of Molecular Neuroscience, University College of London [London] (UCL)-Institute of Neurology, Indiana University, Indiana University [Bloomington], Indiana University System-Indiana University System, Molecular and Clinical Sciences Institute - St George’s [London, UK] (Genetics Research Centre), University of London [London], Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Neuroimagerie en psychiatrie (U1000), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service métabolisme, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Diderot - Paris 7 (UPD7)-CHU Necker - Enfants Malades [AP-HP], Department of Genetics and Metabolic Diseases and the Monique and Jacques Roboh Department of Genetic Research, Hadassah Hebrew University Medical Center [Jerusalem], Centre de recherche en neurobiologie - neurophysiologie de Marseille (CRN2M), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Efthymiou S., Salpietro V., Malintan N., Poncelet M., Kriouile Y., Fortuna S., De Zorzi R., Payne K., Henderson L.B., Cortese A., Maddirevula S., Alhashmi N., Wiethoff S., Ryten M., Botia J.A., Provitera V., Schuelke M., Vandrovcova J., Walsh L., Torti E., Iodice V., Najafi M., Karimiani E.G., Maroofian R., Siquier-Pernet K., Boddaert N., De Lonlay P., Cantagrel V., Aguennouz M., El Khorassani M., Schmidts M., Alkuraya F.S., Edvardson S., Nolano M., Devaux J., Houlden H., Groppa S., Karashova B.M., Nachbauer W., Boesch S., Arning L., Timmann D., Cormand B., Perez-Duenas B., Goraya J.S., Sultan T., Mine J., Avdjieva D., Kathom H., Tincheva R., Banu S., Pineda-Marfa M., Veggiotti P., Ferrari M.D., Van Den Maagdenberg A.M.J.M., Verrotti A., Marseglia G., Savasta S., Garcia-Silva M., Ruiz A.M., Garavaglia B., Borgione E., Portaro S., Sanchez B.M., Boles R., Papacostas S., Vikelis M., Rothman J., Kullmann D., Papanicolaou E.Z., Dardiotis E., Maqbool S., Ibrahim S., Kirmani S., Rana N.N., Atawneh O., Lim S.-Y., Shaikh F., Koutsis G., Breza M., Mangano S., Scuderi C., Morello G., Stojkovic T., Zollo M., Heimer G., Dauvilliers Y.A., Minetti C., Al-Khawaja I., Al-Mutairi F., Hamed S., Pipis M., Bettencourt C., Rinaldi S., Efthymiou, Stephanie, Salpietro, Vincenzo, Malintan, Nancy, Poncelet, Mallory, Kriouile, Yamna, Fortuna, Sara, De Zorzi, Rita, Payne, Katelyn, Henderson, Lindsay B, Cortese, Andrea, Maddirevula, Sateesh, Alhashmi, Nadia, Wiethoff, Sarah, Ryten, Mina, Botia, Juan A, Provitera, Vincenzo, Schuelke, Marku, Vandrovcova, Jana, Walsh, Laurence, Torti, Erin, Iodice, Valeria, Najafi, Maryam, Karimiani, Ehsan Ghayoor, Maroofian, Reza, Siquier-Pernet, Karine, Boddaert, Nathalie, De Lonlay, Pascale, Cantagrel, Vincent, Aguennouz, Mhammed, El Khorassani, Mohamed, Schmidts, Miriam, Alkuraya, Fowzan S, Edvardson, Simon, Nolano, Maria, Devaux, Jérôme, Houlden, Henry, Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Diderot - Paris 7 (UPD7)-CHU Necker - Enfants Malades [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Association française contre les myopathies (AFM-Téléthon)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Pierre et Marie Curie - Paris 6 (UPMC), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Université Paris-Sud - Paris 11 (UP11)

Subjects
Male, [SDV]Life Sciences [q-bio], [SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiology, Nerve Fibers, Myelinated, Gene Frequency, Neurodevelopmental Disorder, [SDV.BC.IC]Life Sciences [q-bio]/Cellular Biology/Cell Behavior [q-bio.CB], Nerve Growth Factor, Protein Isoforms, Child, ComputingMilieux_MISCELLANEOUS, Myelin Sheath, neurofascin, neurodevelopment, peripheral demyelination, Allele, Demyelinating Disease, Genomics, neurodevelopment, neurofascin, peripheral demyelination, Settore MED/39 - Neuropsichiatria Infantile, Pedigree, [SDV.IMM.IA]Life Sciences [q-bio]/Immunology/Adaptive immunology, Child, Preschool, Peripheral Nerve, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Neuroglia, Human, Adult, Adolescent, Nervous System Malformations, Guillain-Barre Syndrome, Axon, Nervous System Malformation, Ranvier's Nodes, Humans, Nerve Growth Factors, Peripheral Nerves, Alleles, Autoantibodies, Infant, Protein Isoform, Original Articles, Axons, nervous system, Neurodevelopmental Disorders, Cell Adhesion Molecule, Mutation, Cell Adhesion Molecules, Demyelinating Diseases
Abstract

See Karakaya and Wirth (doi:10.1093/brain/awz273) for a scientific commentary on this article. Neurofascin (NFASC) isoforms are immunoglobulin cell adhesion molecules involved in node of Ranvier assembly. Efthymiou et al. identify biallelic NFASC variants in ten unrelated patients with a neurodevelopmental disorder characterized by variable degrees of central and peripheral involvement. Abnormal expression of Nfasc155 is accompanied by severe loss of myelinated fibres., Axon pathfinding and synapse formation are essential processes for nervous system development and function. The assembly of myelinated fibres and nodes of Ranvier is mediated by a number of cell adhesion molecules of the immunoglobulin superfamily including neurofascin, encoded by the NFASC gene, and its alternative isoforms Nfasc186 and Nfasc140 (located in the axonal membrane at the node of Ranvier) and Nfasc155 (a glial component of the paranodal axoglial junction). We identified 10 individuals from six unrelated families, exhibiting a neurodevelopmental disorder characterized with a spectrum of central (intellectual disability, developmental delay, motor impairment, speech difficulties) and peripheral (early onset demyelinating neuropathy) neurological involvement, who were found by exome or genome sequencing to carry one frameshift and four different homozygous non-synonymous variants in NFASC. Expression studies using immunostaining-based techniques identified absent expression of the Nfasc155 isoform as a consequence of the frameshift variant and a significant reduction of expression was also observed in association with two non-synonymous variants affecting the fibronectin type III domain. Cell aggregation studies revealed a severely impaired Nfasc155-CNTN1/CASPR1 complex interaction as a result of the identified variants. Immunofluorescence staining of myelinated fibres from two affected individuals showed a severe loss of myelinated fibres and abnormalities in the paranodal junction morphology. Our results establish that recessive variants affecting the Nfasc155 isoform can affect the formation of paranodal axoglial junctions at the nodes of Ranvier. The genetic disease caused by biallelic NFASC variants includes neurodevelopmental impairment and a spectrum of central and peripheral demyelination as part of its core clinical phenotype. Our findings support possible overlapping molecular mechanisms of paranodal damage at peripheral nerves in both the immune-mediated and the genetic disease, but the observation of prominent central neurological involvement in NFASC biallelic variant carriers highlights the importance of this gene in human brain development and function.

Published
2019
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32. A new elaboration concept of polypropylene/unmodified Montmorillonite nanocomposites by reactive extrusion based on direct injection of polypropylene aqueous suspensions

Author

Aloui, M., Soulestin, J., Lacrampe, M.-f., Krawczak, P., Rousseaux, D., Marchand-Brynaert, J., Devaux, J., Quievy, N., and Sclavons, M.

Subjects
Montmorillonite -- Production processes -- Research, Polypropylene -- Production processes -- Research, Extrusion process -- Research, Suspensions (Chemistry) -- Production processes -- Research, Injection molding -- Research, Engineering and manufacturing industries, Science and technology
Abstract

Nanocomposites based on polypropylene (PP) and unmodified Montmorillonite were prepared using a novel elaboration route based on a water-assisted extrusion process. Unmodified Montmorillonite, high shear compounding together with injection of aqueous suspension and reactive processing technology were used. Different aqueous suspensions containing cationic or anionic surfactants, and a compatibilizer (PP-g-MA) were injected during extrusion to promote clay dispersion. For a comparison purpose, a commercial PP/clay masterbatch was melt mixed to PP. Structural, morphological, and rheological characterizations indicate clearly that the cationic suspensions ease the dispersion of clay platelets in the PP matrix. No full exfoliation is, however, obtained, and the system remains still less homogeneous than the nanocomposite based on the commercial masterbatch. Nevertheless, mechanical and thermal characterizations of the nanocomposites based on cationic surfactants demonstrate the efficiency to disperse clay in the polymer matrix, and the effect on the ductility compared to usual PP nanocomposites is promising. POLYM. ENG. SCI., 49:2276-2285, 2009. [C] 2009 Society of Plastics Engineers, INTRODUCTION There is no doubt about the considerable scientific and technological interest on hybrid organic-inorganic systems. In particular, the polymer/clay nanocomposites have attracted much attention. Such hybrids, because of their [...]

Published
2009
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34. Polyolefins-biofibre composites: a new way for an industrial production

Author

Soulestin, J., Quievy, N., Sclavons, M., and Devaux, J.

Subjects
Polyolefins -- Research -- Production processes -- Properties, Cellulose fibers -- Research -- Production processes, Engineering and manufacturing industries, Science and technology, Production processes, Research, Properties
Abstract

Low density polyethylene (LDPE) composites based on cellulose fibres have been processed by high shear extrusion with water injection to help dispersion of fibres and release nanofibres from cellulose. Influence of extrusion parameters as shear, residence time, storage conditions of the matrix, and effect of water injection on the morphological properties of the composites have been studied using microscopy. Optimization of the extrusion parameters is necessary to reach a dispersion of the fibres. Increasing shearing forces and residence time allows limiting the presence of large aggregates of cellulose fibres. Use of powdered LDPE, even for short residence time and low shear, is efficient to produce well-dispersed composites. Injection of water during the extrusion also improves the quality of the dispersion. However, no nanofibres are observed. The main effect is a spectacular decrease of the discoloration (yellowing) due to cellulose degradation. Mechanical properties of the composites have been investigated. Young modulus increases with cellulose content and reinforcing effect is more important above 10% by weight. For well-dispersed composites, the extrusion parameters have no significant influence on the stiffness of the composites. However, due to the weakness of the interface, the ductility of composites is reduced compared with LDPE. POLYM. ENG. SCI., 47:467-476, 2007. © 2007 Society of Plastics Engineers, INTRODUCTION Composites of synthetic polymers and natural organic materials, used as fillers, find a wide interest due to biodegradability, renewability, low-cost recyclability, low specific gravity, low weight, nonabrasiveness to processing [...]

Published
2007

35. Antibodies to neurofascin, contactin-1, and contactin-associated protein 1 in CIDP: Clinical relevance of IgG isotype

Author

Cortese, A., Lombardi, R., Briani, C., Callegari, I., Benedetti, L., Manganelli, F., Luigetti, M., Ferrari, S., Clerici, A. M., Marfia, G. A., Rigamonti, A., Carpo, M., Fazio, R., Corbo, M., Mazzeo, A., Giannini, F., Cosentino, G., Zardini, E., Curro, R., Gastaldi, M., Vegezzi, E., Alfonsi, E., Berardinelli, A., Kouton, L., Manso, C., Giannotta, C., Doneddu, P., Dacci, P., Piccolo, L., Ruiz, M., Salvalaggio, A., De Michelis, C., Spina, E., Topa, A., Bisogni, G., Romano, A., Mariotto, S., Mataluni, G., Cerri, F., Stancanelli, C., Sabatelli, M., Schenone, A., Marchioni, E., Lauria, G., Nobile-Orazio, E., Devaux, J., Franciotta, D., Luigetti M. (ORCID:0000-0001-7539-505X), Romano A., Sabatelli M. (ORCID:0000-0001-6635-4985), Cortese, A., Lombardi, R., Briani, C., Callegari, I., Benedetti, L., Manganelli, F., Luigetti, M., Ferrari, S., Clerici, A. M., Marfia, G. A., Rigamonti, A., Carpo, M., Fazio, R., Corbo, M., Mazzeo, A., Giannini, F., Cosentino, G., Zardini, E., Curro, R., Gastaldi, M., Vegezzi, E., Alfonsi, E., Berardinelli, A., Kouton, L., Manso, C., Giannotta, C., Doneddu, P., Dacci, P., Piccolo, L., Ruiz, M., Salvalaggio, A., De Michelis, C., Spina, E., Topa, A., Bisogni, G., Romano, A., Mariotto, S., Mataluni, G., Cerri, F., Stancanelli, C., Sabatelli, M., Schenone, A., Marchioni, E., Lauria, G., Nobile-Orazio, E., Devaux, J., Franciotta, D., Luigetti M. (ORCID:0000-0001-7539-505X), Romano A., and Sabatelli M. (ORCID:0000-0001-6635-4985)

Abstract

OBJECTIVE: To assess the prevalence and isotypes of anti-nodal/paranodal antibodies to nodal/paranodal proteins in a large chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) cohort, compare clinical features in seronegative vs seropositive patients, and gather evidence of their isotype-specific pathogenic role. METHODS: Antibodies to neurofascin-155 (Nfasc155), neurofascin-140/186 (Nfasc140/186), contactin-1 (CNTN1), and contactin-associated protein 1 (Caspr1) were detected with ELISA and/or cell-based assay. Antibody pathogenicity was tested by immunohistochemistry on skin biopsy, intraneural injection, and cell aggregation assay. RESULTS: Of 342 patients with CIDP, 19 (5.5%) had antibodies against Nfasc155 (n = 9), Nfasc140/186 and Nfasc155 (n = 1), CNTN1 (n = 3), and Caspr1 (n = 6). Antibodies were absent from healthy and disease controls, including neuropathies of different causes, and were mostly detected in patients with European Federation of Neurological Societies/Peripheral Nerve Society (EFNS/PNS) definite CIDP (n = 18). Predominant antibody isotypes were immunoglobulin G (IgG)4 (n = 13), IgG3 (n = 2), IgG1 (n = 2), or undetectable (n = 2). IgG4 antibody-associated phenotypes included onset before 30 years, severe neuropathy, subacute onset, tremor, sensory ataxia, and poor response to intravenous immunoglobulin (IVIG). Immunosuppressive treatments, including rituximab, cyclophosphamide, and methotrexate, proved effective if started early in IVIG-resistant IgG4-seropositive cases. Five patients with an IgG1, IgG3, or undetectable isotype showed clinical features indistinguishable from seronegative patients, including good response to IVIG. IgG4 autoantibodies were associated with morphological changes at paranodes in patients' skin biopsies. We also provided preliminary evidence from a single patient about the pathogenicity of anti-Caspr1 IgG4, showing their ability to penetrate paranodal regions and disrupt the integrity of the Nfasc155/CNTN

Published
2020

45. Chemically oxidized polypyrrole: influence of the experimental conditions on its electrical conductivity and morphology

Author

Chen, X., Devaux, J., Issi, J-P., and Billaud, D.

Subjects
Electrical conductivity -- Measurement -- Electric properties, Polymers -- Electric properties -- Measurement, Engineering and manufacturing industries, Science and technology, Measurement, Electric properties
Abstract

The effect of synthesis conditions on the electrical conductivity and the morphology of a chemically oxidized polypyrrole was investigated. It was found that the electrical conductivity of polypyrrole was strongly dependent on the pyrrole/[FeCl.sub.3] ratio, which controls the redox potential of the reaction medium. The reaction temperature and the reaction duration also influence the electrical conductivity of the polypyrrole. A considerable influence of the nature of the solvent used on the aggregation state of polypyrrole particles was demonstrated. Optimal experimental conditions are proposed., INTRODUCTION Electrically conductive organic polymers have been studied intensively in the last few years (1, 2). Much work in this area has been focused on polyacetylene and polypyrrole. This latter [...]

Published
1995

46. The conducting behavior and stability of conducting polymer composites

Author

Chen, X.B., Devaux, J., Issi, J-P., and Billaud, D.

Subjects
Electrical conductivity -- Measurement -- Research -- Electric properties, Polymers -- Electric properties -- Measurement -- Research, Polymeric composites -- Research -- Measurement -- Electric properties, Engineering and manufacturing industries, Science and technology, Measurement, Research, Electric properties
Abstract

Results of measurements of the electrical conductivity of low density polyethylene/polypyrrole and polystyrene/polypyrrole composites are reported. It is observed that the electrical conductivity of the composite vs. concentration follows the power law predicted by the percolation theory. The manufacturing process influences the homogeneity of the composite at microscopic scale and thus the percolation threshold. Annealing studies show that the stability of the electrical conductivity of the composite is related to the thermal expansion of the polymers and the relaxation of the polymer chains. The decrease of the electrical conductivity of the composite is attributed to the interruption of the percolation path., INTRODUCTION The electrical properties of conducting particle-fined composite systems have been of both theoretical and experimental interest for a long time. One of the main areas of technological interest concerns [...]

Published
1995

50. Bifurcation effects in ductile metals with nonlocal damage

Author

Leblond, J.B., Perrin, G., and Devaux, J.

Subjects
Metals -- Ductility, Bifurcation theory -- Analysis, Porous materials -- Research, Science and technology
Abstract

Bifurcation analysis in ductile metals reveals the absence of bifurcations in a finite, nonhomogeneous body with a positive slope in the void free matrix and the possibility of bifurcations in an infinite homogeneous body. The infinite and finite media differ as the former displays void growth before the shear band outset and the latter displays shear band first. Nonlocality does not alter the first display of bifurcations, but modifies the bifurcation mode with infinite wavelength.

Published
1994

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