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1. Identification of Ammonium Salts on Comet 67P/C-G Surface from Infrared VIRTIS/Rosetta Data Based on Laboratory Experiments. Implications and Perspectives

Author

Poch, Olivier, Istiqomah, Istiqomah, Quirico, Eric, Beck, Pierre, Schmitt, Bernard, Theulé, Patrice, Faure, Alexandre, Hily-Blant, Pierre, Bonal, Lydie, Raponi, Andrea, Ciarniello, Mauro, Rousseau, Batiste, Potin, Sandra, Brissaud, Olivier, Flandinet, Laurène, Filacchione, Gianrico, Pommerol, Antoine, Thomas, Nicolas, Kappel, David, Mennella, Vito, Moroz, Lyuba, Vinogradoff, Vassilissa, Arnold, Gabriele, Erard, Stéphane, Bockelée-Morvan, Dominique, Leyrat, Cédric, Capaccioni, Fabrizio, de Sanctis, Maria Cristina, Longobardo, Andrea, Mancarella, Francesca, Palomba, Ernesto, and Tosi, Federico

Subjects
Astrophysics - Earth and Planetary Astrophysics
Abstract

The nucleus of comet 67P/Churyumov-Gerasimenko exhibits a broad spectral reflectance feature around 3.2 $\mu$m, which is omnipresent in all spectra of the surface, and whose attribution has remained elusive since its discovery. Based on laboratory experiments, we have shown that most of this absorption feature is due to ammonium (NH4+) salts mixed with the dark surface material. The depth of the band is compatible with semi-volatile ammonium salts being a major reservoir of nitrogen in the comet, which could dominate over refractory organic matter and volatile species. These salts may thus represent the long-sought reservoir of nitrogen in comets, possibly bringing their nitrogen-to-carbon ratio in agreement with the solar value. Moreover, the reflectance spectra of several asteroids are compatible with the presence of NH4+ salts at their surfaces. The presence of such salts, and other NH4+-bearing compounds on asteroids, comets, and possibly in proto-stellar environments, suggests that NH4+ may be a tracer of the incorporation and transformation of nitrogen in ices, minerals and organics, at different phases of the formation of the Solar System.

Published
2023
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6. Identification of Ammonium Salts on Comet 67P/C-G Surface from Infrared VIRTIS/Rosetta Data Based on Laboratory Experiments. Implications and Perspectives

Author

Poch, Olivier, primary, Istiqomah, Istiqomah, additional, Quirico, Eric, additional, Beck, Pierre, additional, Schmitt, Bernard, additional, Theulé, Patrice, additional, Faure, Alexandre, additional, Hily-Blant, Pierre, additional, Bonal, Lydie, additional, Raponi, Andrea, additional, Ciarniello, Mauro, additional, Rousseau, Batiste, additional, Potin, Sandra, additional, Brissaud, Olivier, additional, Flandinet, Laurène, additional, Filacchione, Gianrico, additional, Pommerol, Antoine, additional, Thomas, Nicolas, additional, Kappel, David, additional, Mennella, Vito, additional, Moroz, Lyuba, additional, Vinogradoff, Vassilissa, additional, Arnold, Gabriele, additional, Erard, Stéphane, additional, Bockelée-Morvan, Dominique, additional, Leyrat, Cédric, additional, Capaccioni, Fabrizio, additional, De Sanctis, Maria Cristina, additional, Longobardo, Andrea, additional, Mancarella, Francesca, additional, Palomba, Ernesto, additional, and Tosi, Federico, additional

Published
2023
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8. Macro and micro structures of pebble-made cometary nuclei reconciled by seasonal evolution

Author

Ciarniello, Mauro, Fulle, Marco, Raponi, Andrea, Filacchione, Gianrico, Capaccioni, Fabrizio, Rotundi, Alessandra, Rinaldi, Giovanna, Formisano, Michelangelo, Magni, Gianfranco, Tosi, Federico, De Sanctis, Maria Cristina, Capria, Maria Teresa, Longobardo, Andrea, Beck, Pierre, Fornasier, Sonia, Kappel, David, Mennella, Vito, Mottola, Stefano, Rousseau, Batiste, and Arnold, Gabriele

Published
2022
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9. Techniques to verify the sampling system and flow characteristics of the sensor MicroMED for the ExoMars 2022 Mission

Author

Cozzolino, Fabio, Franzese, Gabriele, Mongelluzzo, Giuseppe, Molfese, Cesare, Esposito, Francesca, Ruggeri, Alan Cosimo, Porto, Carmen, Silvestro, Simone, Popa, Ciprian Ionut, Mennella, Vito, Scaccabarozzi, Diego, Saggin, Bortolino, Rico, Alberto Martin Ortega, Arruego, Ignacio, De Mingo, José Ramon, Santiuste, Nuria, Brienza, Daniele, and Cortecchia, Fausto

Published
2021
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11. A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection

Author

Blume, Cornelia, Jackson, Claire L., Spalluto, Cosma Mirella, Legebeke, Jelmer, Nazlamova, Liliya, Conforti, Franco, Perotin, Jeanne-Marie, Frank, Martin, Butler, John, Crispin, Max, Coles, Janice, Thompson, James, Ridley, Robert A., Dean, Lareb S. N., Loxham, Matthew, Reikine, Stephanie, Azim, Adnan, Tariq, Kamran, Johnston, David A., Skipp, Paul J., Djukanovic, Ratko, Baralle, Diana, McCormick, Christopher J., Davies, Donna E., Lucas, Jane S., Wheway, Gabrielle, and Mennella, Vito

Published
2021
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12. The Seckel syndrome and centrosomal protein Ninein localizes asymmetrically to stem cell centrosomes but is not required for normal development, behavior, or DNA damage response in Drosophila

Author

Zheng, Yiming, Mennella, Vito, Marks, Steven, Wildonger, Jill, Elnagdi, Esraa, Agard, David A, and Megraw, Timothy L

Subjects
Biochemistry and Cell Biology, Biological Sciences, Genetics, Stem Cell Research - Nonembryonic - Non-Human, Stem Cell Research, Regenerative Medicine, 1.1 Normal biological development and functioning, Underpinning research, Generic health relevance, Animals, Cell Division, Centrioles, Centrosome, Cytoskeletal Proteins, DNA Damage, Drosophila, Drosophila Proteins, Microtubule-Organizing Center, Microtubules, Nuclear Proteins, Stem Cells, Medical and Health Sciences, Developmental Biology, Biochemistry and cell biology
Abstract

Ninein (Nin) is a centrosomal protein whose gene is mutated in Seckel syndrome (SCKL, MIM 210600), an inherited recessive disease that results in primordial dwarfism, cognitive deficiencies, and increased sensitivity to genotoxic stress. Nin regulates neural stem cell self-renewal, interkinetic nuclear migration, and microtubule assembly in mammals. Nin is evolutionarily conserved, yet its role in cell division and development has not been investigated in a model organism. Here we characterize the single Nin orthologue in Drosophila Drosophila Nin localizes to the periphery of the centrosome but not at centriolar structures as in mammals. However, Nin shares the property of its mammalian orthologue of promoting microtubule assembly. In neural and germline stem cells, Nin localizes asymmetrically to the younger (daughter) centrosome, yet it is not required for the asymmetric division of stem cells. In wing epithelia and muscle, Nin localizes to noncentrosomal microtubule-organizing centers. Surprisingly, loss of nin expression from a nin mutant does not significantly affect embryonic and brain development, fertility, or locomotor performance of mutant flies or their survival upon exposure to DNA-damaging agents. Although it is not essential, our data suggest that Nin plays a supportive role in centrosomal and extracentrosomal microtubule organization and asymmetric stem cell division.

Published
2016

13. An orbital water-ice cycle on comet 67P from colour changes

Author

Filacchione, Gianrico, Capaccioni, Fabrizio, Ciarniello, Mauro, Raponi, Andrea, Rinaldi, Giovanna, De Sanctis, Maria Cristina, Bockelèe-Morvan, Dominique, Erard, Stèphane, Arnold, Gabriele, Mennella, Vito, Formisano, Michelangelo, Longobardo, Andrea, and Mottola, Stefano

Published
2020
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14. Amorphous no more: subdiffraction view of the pericentriolar material architecture

Author

Mennella, Vito, Agard, David A, Huang, Bo, and Pelletier, Laurence

Subjects
Biochemistry and Cell Biology, Biological Sciences, Centrioles, Centrosome, Humans, Microscopy, Electron, Microtubules, centrosomes, cilia, pericentriolar material, super-resolution microscopy, mitosis, cell cycle, Medical and Health Sciences, Developmental Biology, Biochemistry and cell biology
Abstract

The centrosome influences the shape, orientation and activity of the microtubule cytoskeleton. The pericentriolar material (PCM), determines this functionality by providing a dynamic platform for nucleating microtubules and acts as a nexus for molecular signaling. Although great strides have been made in understanding PCM activity, its diffraction-limited size and amorphous appearance on electron microscopy (EM) have limited analysis of its high-order organization. Here, we outline current knowledge of PCM architecture and assembly, emphasizing recent super-resolution imaging studies that revealed the PCM has a layered structure made of fibers and matrices conserved from flies to humans. Notably, these studies debunk the long-standing view of an amorphous PCM and provide a paradigm to dissect the supramolecular organization of organelles in cells.

Published
2014

15. Primary Ciliary Dyskinesia

Author

Mennella, Vito, primary, Jackson, Claire L., additional, Driessens, Corine, additional, Horton, Katie L., additional, and Lucas, Jane S., additional

Published
2020
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17. Cell-cycle regulation of formin-mediated actin cable assembly

Author

Miao, Yansong, Wong, Catherine CL, Mennella, Vito, Michelot, Alphée, Agard, David A, Holt, Liam J, Yates, John R, and Drubin, David G

Subjects
Biochemistry and Cell Biology, Biological Sciences, Underpinning research, 1.1 Normal biological development and functioning, Generic health relevance, Actin Cytoskeleton, Blotting, Western, CDC2 Protein Kinase, Cell Cycle, Image Processing, Computer-Assisted, Imaging, Three-Dimensional, Mass Spectrometry, Microfilament Proteins, Microscopy, Electron, Transmission, Microscopy, Fluorescence, Microspheres, Polymerization, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins, Cdk1, three-dimensional structured-illumination microscopy, actin nucleation
Abstract

Assembly of appropriately oriented actin cables nucleated by formin proteins is necessary for many biological processes in diverse eukaryotes. However, compared with knowledge of how nucleation of dendritic actin filament arrays by the actin-related protein-2/3 complex is regulated, the in vivo regulatory mechanisms for actin cable formation are less clear. To gain insights into mechanisms for regulating actin cable assembly, we reconstituted the assembly process in vitro by introducing microspheres functionalized with the C terminus of the budding yeast formin Bni1 into extracts prepared from yeast cells at different cell-cycle stages. EM studies showed that unbranched actin filament bundles were reconstituted successfully in the yeast extracts. Only extracts enriched in the mitotic cyclin Clb2 were competent for actin cable assembly, and cyclin-dependent kinase 1 activity was indispensible. Cyclin-dependent kinase 1 activity also was found to regulate cable assembly in vivo. Here we present evidence that formin cell-cycle regulation is conserved in vertebrates. The use of the cable-reconstitution system to test roles for the key actin-binding proteins tropomyosin, capping protein, and cofilin provided important insights into assembly regulation. Furthermore, using mass spectrometry, we identified components of the actin cables formed in yeast extracts, providing the basis for comprehensive understanding of cable assembly and regulation.

Published
2013

18. High-resolution restoration of 3D structures from widefield images with extreme low signal-to-noise-ratio

Author

Arigovindan, Muthuvel, Fung, Jennifer C, Elnatan, Daniel, Mennella, Vito, Chan, Yee-Hung Mark, Pollard, Michael, Branlund, Eric, Sedat, John W, and Agard, David A

Subjects
Biomedical Imaging, Bioengineering, Generic health relevance, Algorithms, Animals, Cell Line, Entropy, Imaging, Three-Dimensional, Microscopy, Fluorescence, Models, Molecular, Models, Theoretical, Nuclear Proteins, Protein Conformation, Reproducibility of Results, Saccharomyces cerevisiae, Saccharomyces cerevisiae Proteins, Signal-To-Noise Ratio, 4D microscopy, low dose microscopy, noise-suppressing regularization
Abstract

Four-dimensional fluorescence microscopy--which records 3D image information as a function of time--provides an unbiased way of tracking dynamic behavior of subcellular components in living samples and capturing key events in complex macromolecular processes. Unfortunately, the combination of phototoxicity and photobleaching can severely limit the density or duration of sampling, thereby limiting the biological information that can be obtained. Although widefield microscopy provides a very light-efficient way of imaging, obtaining high-quality reconstructions requires deconvolution to remove optical aberrations. Unfortunately, most deconvolution methods perform very poorly at low signal-to-noise ratios, thereby requiring moderate photon doses to obtain acceptable resolution. We present a unique deconvolution method that combines an entropy-based regularization function with kernels that can exploit general spatial characteristics of the fluorescence image to push the required dose to extreme low levels, resulting in an enabling technology for high-resolution in vivo biological imaging.

Published
2013

20. Ultra high vacuum beam pipe of the Einstein Telescope project: Challenges and perspectives

Author

Grado, Aniello, primary, Tofani, Emanuele, additional, Angelucci, Marco, additional, Cimino, Roberto, additional, Gargiulo, Julien, additional, Getman, Fedor, additional, Liedl, Andrea, additional, Limatola, Luca, additional, Mennella, Vito, additional, Pasqualetti, Antonio, additional, Ricci, Fulvio, additional, Sentenac, Daniel, additional, and Spallino, Luisa, additional

Published
2023
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21. Photoprocessing of Organic Material on Ceres: Laboratory Studies on Chemical Evolution of the Inner Dwarf Planet

Author

Brucato, John Robert, primary, De Sanctis, Maria Cristina, additional, Pagnoscin, Silvia, additional, Poggiali, Giovanni, additional, Ferrari, Marco, additional, De Angelis, Simone, additional, Palumbo, Maria Elisabetta, additional, Baratta, Giuseppe, additional, Mennella, Vito, additional, Fulvio, Daniele, additional, Popa, Ciprian, additional, Strazzulla, Giovanni, additional, and Scirè, Carlotta, additional

Published
2022
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22. Seasonal evolution unveils the internal structure of cometary nuclei

Author

Ciarniello, Mauro, primary, Fulle, Marco, additional, Raponi, Andrea, additional, Filacchione, Gianrico, additional, Capaccioni, Fabrizio, additional, Rotundi, Alessandra, additional, Rinaldi, Giovanna, additional, Formisano, Michelangelo, additional, Magni, Gianfranco, additional, Tosi, Federico, additional, De Sanctis, Maria Cristina, additional, Capria, Maria Teresa, additional, Longobardo, Andrea, additional, Beck, Pierre, additional, Fornasier, Sonia, additional, Kappel, David, additional, Mennella, Vito, additional, Mottola, Stefano, additional, Rousseau, Batiste, additional, and Arnold, Gabriele, additional

Published
2022
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24. Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B

Author

Costain, Gregory, Liu, Zhen, Mennella, Vito, Radicioni, Giorgia, Goczi, Adrienn N, Albulescu, Alexandra, Walker, Susan, Ngan, Bo, Manson, David, Vali, Reza, Khan, Meraj, Palaniyar, Nades, Hill, David B., Hall, David A., Marshall, Christian R., Knowles, Michael, Zariwala, Maimoona A., Kesimer, Mehmet, Dell, Sharon D., Costain, Gregory, Liu, Zhen, Mennella, Vito, Radicioni, Giorgia, Goczi, Adrienn N, Albulescu, Alexandra, Walker, Susan, Ngan, Bo, Manson, David, Vali, Reza, Khan, Meraj, Palaniyar, Nades, Hill, David B., Hall, David A., Marshall, Christian R., Knowles, Michael, Zariwala, Maimoona A., Kesimer, Mehmet, and Dell, Sharon D.

Abstract

Rationale: Mucin homeostasis is fundamental to airway health. Upregulation of airway mucus glycoprotein MUC5B is observed in diverse common lung diseases and represents a potential therapeutic target. In mice, Muc5b is required for mucociliary clearance and for controlling inflammation after microbial exposure. The consequences of its loss in humans are unclear. Objectives: The goal of this study was to identify and characterize a family with congenital absence of MUC5B protein. Methods: We performed whole-genome sequencing in an adult proband with unexplained bronchiectasis, impaired pulmonary function, and repeated Staphylococcus aureus infection. Deep phenotyping over a 12-year period included assessments of pulmonary radioaerosol mucociliary clearance. Genotyping with reverse phenotyping was organized for eight family members. Extensive experiments, including immunofluorescence staining and mass spectrometry for mucins, were performed across accessible sample types. Measurements and Main Results: The proband, and her symptomatic sibling who also had extensive sinus disease with nasal polyps, were homozygous for a novel splicing variant in the MUC5B gene (NM_002458.2: c.1938 + 1G>A). MUC5B was absent from saliva, sputum, and nasal samples. Mucociliary clearance was impaired in the proband, and large numbers of apoptotic macrophages were present in sputum. Three siblings heterozygous for the familial MUC5B variant were asymptomatic but had a shared pattern of mild lung function impairments. Conclusions: Congenital absence of MUC5B defines a new category of genetic respiratory disease. The human phenotype is highly concordant with that of the Muc5b-/- murine model. Further study of individuals with decreased MUC5B production could provide unique mechanistic insights into airway mucus biology.

Published
2022

25. Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B

Author

Costain, Gregory, primary, Liu, Zhen, additional, Mennella, Vito, additional, Radicioni, Giorgia, additional, Goczi, Adrienn N., additional, Albulescu, Alexandra, additional, Walker, Susan, additional, Ngan, Bo, additional, Manson, David, additional, Vali, Reza, additional, Khan, Meraj, additional, Palaniyar, Nades, additional, Hill, David B., additional, Hall, David A., additional, Marshall, Christian R., additional, Knowles, Michael, additional, Zariwala, Maimoona A., additional, Kesimer, Mehmet, additional, and Dell, Sharon D., additional

Published
2022
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28. Comet 81p/Wild 2 under a Microscope

Author

Brownlee, Don, Tsou, Peter, Aléon, Jérôme, Alexander, Conel M. O'D., Araki, Tohru, Bajt, Sasa, Baratta, Giuseppe A., Bastien, Ron, Bland, Phil, Bleuet, Pierre, Borg, Janet, Bradley, John P., Brearley, Adrian, Brenker, F., Brennan, Sean, Bridges, John C., Browning, Nigel D., Brucato, John R., Bullock, E., Burchell, Mark J., Busemann, Henner, Butterworth, Anna, Chaussidon, Marc, Cheuvront, Allan, Chi, Miaofang, Cintala, Mark J., Clark, B. C., Clemett, Simon J., Cody, George, Colangeli, Luigi, Cooper, George, Cordier, Patrick, Daghlian, C., Dai, Zurong, D'Hendecourt, Louis, Djouadi, Zahia, Dominguez, Gerardo, Duxbury, Tom, Dworkin, Jason P., Ebel, Denton S., Economou, Thanasis E., Fakra, Sirine, Fairey, Sam A. J., Fallon, Stewart, Ferrini, Gianluca, Ferroir, T., Fleckenstein, Holger, Floss, Christine, Flynn, George, Franchi, Ian A., Fries, Marc, Gainsforth, Z., Gallien, J.-P., Genge, Matt, Gilles, Mary K., Gillet, Philipe, Gilmour, Jamie, Glavin, Daniel P., Gounelle, Matthieu, Grady, Monica M., Graham, Giles A., Grant, P. G., Green, Simon F., Grossemy, Faustine, Grossman, Lawrence, Grossman, Jeffrey N., Guan, Yunbin, Hagiya, Kenji, Harvey, Ralph, Heck, Philipp, Herzog, Gregory F., Hoppe, Peter, Hörz, Friedrich, Huth, Joachim, Hutcheon, Ian D., Ignatyev, Konstantin, Ishii, Hope, Ito, Motoo, Jacob, Damien, Jacobsen, Chris, Jacobsen, Stein, Jones, Steven, Joswiak, David, Jurewicz, Amy, Kearsley, Anton T., Keller, Lindsay P., Khodja, H., Kilcoyne, A. L. David, Kissel, Jochen, Krot, Alexander, Langenhorst, Falko, Lanzirotti, Antonio, Le, Loan, Leshin, Laurie A., Leitner, J., Lemelle, L., Leroux, Hugues, Liu, Ming-Chang, Leuning, K., Lyon, Ian, MacPherson, Glen, Marcus, Matthew A., Marhas, Kuljeet, Marty, Bernard, Matrajt, Graciela, McKeegan, Kevin, Meibom, Anders, Mennella, Vito, Messenger, Keiko, Messenger, Scott, Mikouchi, Takeshi, Mostefaoui, Smail, Nakamura, Tomoki, Nakano, T., Newville, M., Nittler, Larry R., Ohnishi, Ichiro, Ohsumi, Kazumasa, Okudaira, Kyoko, Papanastassiou, Dimitri A., Palma, Russ, Palumbo, Maria E., Pepin, Robert O., Perkins, David, Perronnet, Murielle, Pianetta, P., Rao, William, Rietmeijer, Frans J. M., Robert, François, Rost, D., Rotundi, Alessandra, Ryan, Robert, Sandford, Scott A., Schwandt, Craig S., See, Thomas H., Schlutter, Dennis, Sheffield-Parker, J., Simionovici, Alexandre, Simon, Steven, Sitnitsky, I., Snead, Christopher J., Spencer, Maegan K., Stadermann, Frank J., Steele, Andrew, Stephan, Thomas, Stroud, Rhonda, Susini, Jean, Sutton, S. R., Suzuki, Y., Taheri, Mitra, Taylor, Susan, Teslich, Nick, Tomeoka, Kazu, Tomioka, Naotaka, Toppani, Alice, Trigo-Rodríguez, Josep M., Troadec, David, Tsuchiyama, Akira, Tuzzolino, Anthony J., Tyliszczak, Tolek, Uesugi, K., Velbel, Michael, Vellenga, Joe, Vicenzi, E., Vincze, L., Warren, Jack, Weber, Iris, Weisberg, Mike, Westphal, Andrew J., Wirick, Sue, Wooden, Diane, Wopenka, Brigitte, Wozniakiewicz, Penelope, Wright, Ian, Yabuta, Hikaru, Yano, Hajime, Young, Edward D., Zare, Richard N., Zega, Thomas, Ziegler, Karen, Zimmerman, Laurent, Zinner, Ernst, and Zolensky, Michael

Published
2006
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29. Organics Captured from Comet 81p/Wild 2 by the Stardust Spacecraft

Author

Sandford, Scott A., Aléon, Jérôme, Alexander, Conel M. O'D., Araki, Tohru, Bajt, Saša, Baratta, Giuseppe A., Borg, Janet, Bradley, John P., Brownlee, Donald E., Brucato, John R., Burchell, Mark J., Busemann, Henner, Butterworth, Anna, Clemett, Simon J., Cody, George, Colangeli, Luigi, Cooper, George, D'Hendecourt, Louis, Djouadi, Zahia, Dworkin, Jason P., Ferrini, Gianluca, Fleckenstein, Holger, Flynn, George J., Franchi, Ian A., Fries, Marc, Gilles, Mary K., Glavin, Daniel P., Gounelle, Matthieu, Grossemy, Faustine, Jacobsen, Chris, Keller, Lindsay P., Kilcoyne, A. L. David, Leitner, Jan, Matrajt, Graciela, Meibom, Anders, Mennella, Vito, Mostefaoui, Smail, Nittler, Larry R., Palumbo, Maria E., Papanastassiou, Dimitri A., Robert, François, Rotundi, Alessandra, Snead, Christopher J., Spencer, Maegan K., Stadermann, Frank J., Steele, Andrew, Stephan, Thomas, Tsou, Peter, Tyliszczak, Tolek, Westphal, Andrew J., Wirick, Sue, Wopenka, Brigitte, Yabuta, Hikaru, Zare, Richard N., and Zolensky, Michael E.

Published
2006
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30. Infrared Spectroscopy of Comet 81p/Wild 2 Samples Returned by Stardust

Author

Keller, Lindsay P., Bajt, Saša, Baratta, Giuseppe A., Borg, Janet, Bradley, John P., Brownlee, Don E., Busemann, Henner, Brucato, John R., Burchell, Mark, Colangeli, Luigi, d'Hendecourt, Louis, Djouadi, Zahia, Ferrini, Gianluca, Flynn, George, Franchi, Ian A., Fries, Marc, Grady, Monica M., Graham, Giles A., Grossemy, Faustine, Kearsley, Anton, Matrajt, Graciela, Nakamura-Messenger, Keiko, Mennella, Vito, Nittler, Larry, Palumbo, Maria E., Stadermann, Frank J., Tsou, Peter, Rotundi, Alessandra, Sandford, Scott A., Snead, Christopher, Steele, Andrew, Wooden, Diane, and Zolensky, Mike

Published
2006
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32. VIS-IR Spectroscopy of Mixtures of Water Ice, Organic Matter, and Opaque Mineral in Support of Small Body Remote Sensing Observations

Author

Ciarniello, Mauro, primary, Moroz, Lyuba V., additional, Poch, Olivier, additional, Vinogradoff, Vassilissa, additional, Beck, Pierre, additional, Rousseau, Batiste, additional, Istiqomah, Istiqomah, additional, Sultana, Robin, additional, Raponi, Andrea, additional, Filacchione, Gianrico, additional, Kappel, David, additional, Pommerol, Antoine, additional, Schröder, Stefan E., additional, Pilorget, Cedric, additional, Quirico, Eric, additional, Mennella, Vito, additional, and Schmitt, Bernard, additional

Published
2021
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34. Evolution and alteration of organic material on Ceres, a pathway towards the understanding of complex geological and chemical history of a wet small body

Author

Poggiali, Giovanni, primary, De Sanctis, Maria Cristina, additional, Brucato, John Robert, additional, Ferrari, Marco, additional, De Angelis, Simone, additional, Palumbo, Maria Elisabetta, additional, Baratta, Giuseppe, additional, Mennella, Vito, additional, Fulvio, Daniele, additional, Popa, Ciprian, additional, Strazzulla, Giovanni, additional, and Sciré, Carlotta, additional

Published
2021
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35. Additional file 1 of Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

Author

Wheway, Gabrielle, Thomas, N. Simon, Carroll, Mary, Coles, Janice, Doherty, Regan, Goggin, Patricia, Green, Ben, Harris, Amanda, Hunt, David, Jackson, Claire L., Lord, Jenny, Mennella, Vito, Thompson, James, Walker, Woolf T., and Lucas, Jane S.

Subjects
otorhinolaryngologic diseases
Abstract

Additional file 1. Table 1: Genes on 19 and 29 gene next generation sequencing panel used for PCD genetic testing in patients in the Wessex PCD cohort prior to WGS through the 100,000 Genomes Project

Published
2021
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37. Hereditary Mucin Deficiency Caused by Biallelic Loss-of-Function of MUC5B Defines a Novel Category of Lung Disease

Author

Liu, Zhen, Costain, Gregory, Goczi, Adrienn, Albulescu, Alexandra, Walker, Susan, Ngan, Bo, Hall, David, A., Marshall, Christian R., Mennella, Vito, Kesimer, Mehmet, Knowles, Michael, Zariwala, Maimoona A., Dell, Sharon D., Liu, Zhen, Costain, Gregory, Goczi, Adrienn, Albulescu, Alexandra, Walker, Susan, Ngan, Bo, Hall, David, A., Marshall, Christian R., Mennella, Vito, Kesimer, Mehmet, Knowles, Michael, Zariwala, Maimoona A., and Dell, Sharon D.

Abstract

Airway mucus is composed principally of the mucin glycoproteins MUC5AC and MUC5B. Dysregulation of MUC5B is observed in diverse common lung diseases and represents a potential therapeutic target. In mice, Muc5b (but not Muc5ac) is required for mucociliary clearance and limiting infections in the lower and upper airways. The consequences of loss of MUC5B in humans remain unknown. Methods: Whole genome sequencing was performed on blood-derived DNA from the proband with idiopathic bronchiectasis, using established methods and a bioinformatics pipeline for clinical genome annotation. A multimodal experimental approach was applied to characterize the clinical and cellular phenotype. Results: A 17-year-old female with bronchiectasis, moderate impairment of pulmonary function (FEV1 59%), and recurrent bacterial pneumonia (Staphylococcus aureus) was found to be apparently homozygous for a rare loss-of-function variant in MUC5B (NM_002458.2: c.1938+1G>A). Targeted familial testing revealed that her 25-year-old female sibling with chronic nonproductive cough, recurrent lung infections, impaired pulmonary function (FEV1 70%), and a history of bilateral nasal polypectomy in childhood, was also homozygous for the MUC5B variant. We observed an absence of the MUC5B protein in all samples examined (saliva, sputum and nasal) by mass spectrometry and immunostaining, and evidence of compensatory upregulation of MUC5AC. In vivo and ex vivo experiments in the proband revealed evidence of disrupted local airway defences, but intact mucociliary clearance in proximal airways. Conclusions: While lung growth and ventilation can be achieved in humans in the absence of MUC5B, hereditary mucin deficiency defines a novel category of inherited lung disease distinct from cystic fibrosis and primary ciliary dyskinesia.

Published
2020

38. A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies

Author

Liu, Zhen, Nguyen, Quynh P.H., Guan, Qingxu, Albulescu, Alexandra, Erdman, Lauren, Mahdaviyeh, Yasaman, Kang, Jasmine, Ouyang, Hong, Hegele, Richard G., Moraes, Theo, Goldenberg, Anna, Dell, Sharon D., Mennella, Vito, Liu, Zhen, Nguyen, Quynh P.H., Guan, Qingxu, Albulescu, Alexandra, Erdman, Lauren, Mahdaviyeh, Yasaman, Kang, Jasmine, Ouyang, Hong, Hegele, Richard G., Moraes, Theo, Goldenberg, Anna, Dell, Sharon D., and Mennella, Vito

Abstract

Airway clearance of pathogens and particulates relies on motile cilia. Impaired cilia motility can lead to reduction in lung function, lung transplant, or death in some cases. More than 50 proteins regulating cilia motility are linked to primary ciliary dyskinesia (PCD), a heterogeneous, mainly recessive genetic lung disease. Accurate PCD molecular diagnosis is essential for identifying therapeutic targets and for initiating therapies that can stabilize lung function, thereby reducing socioeconomic impact of the disease. To date, PCD diagnosis has mainly relied on nonquantitative methods that have limited sensitivity or require a priori knowledge of the genes involved. Here, we developed a quantitative super-resolution microscopy workflow: (i) to increase sensitivity and throughput, (ii) to detect structural defects in PCD patients' cells, and (iii) to quantify motility defects caused by yet to be found PCD genes. Toward these goals, we built a localization map of PCD proteins by three-dimensional structured illumination microscopy and implemented quantitative image analysis and machine learning to detect protein mislocalization, we analyzed axonemal structure by stochastic optical reconstruction microscopy, and we developed a high-throughput method for detecting motile cilia uncoordination by rotational polarity. Together, our data show that super-resolution methods are powerful tools for improving diagnosis of motile ciliopathies. © 2020 The Authors.

Published
2020

39. Kinesin-13s form rings around microtubules

Author

Tan, Dongyan, Asenjo, Ana B., Mennella, Vito, Sharp, David J., and Sosa, Hernando

Subjects
Microtubules -- Research, Kinesin -- Structure, Kinesin -- Research, Hydrolysis -- Analysis, Adenosine triphosphate -- Structure, Adenosine triphosphate -- Chemical properties, Biological sciences
Abstract

Kinesin is a superfamily of motor proteins that uses the energy of adenosine triphosphate hydrolysis to move and generate force along microtubules. A notable exception to this general description is found in the kinesin-13 family that actively depolymerizes microtubules rather than actively moving along them. This depolymerization activity is important in mitosis during chromosome segregation. It is still not fully clear by which mechanism kinesin-13s depolymerize microtubules. To address this issue, we used electron microscopy to investigate the interaction of kinesin-13s with microtubules. Surprisingly, we found that proteins of the kinesin-13 family form rings and spirals around microtubules. This is the first report of this type of oligomeric structure for any kinesin protein. These rings may allow kinesin-13s to stay at the ends of microtubules during depolymerization.

Published
2006

41. Super-Resolution Microscopy and FIB-SEM Imaging Reveal Parental Centriole-Derived, Hybrid Cilium in Mammalian Multiciliated Cells

Author

Liu, Zhen, primary, Nguyen, Quynh P.H., additional, Nanjundappa, Rashmi, additional, Delgehyr, Nathalie, additional, Megherbi, Alexandre, additional, Doherty, Regan, additional, Thompson, James, additional, Jackson, Claire, additional, Albulescu, Alexandra, additional, Heng, Yew M., additional, Lucas, Jane S., additional, Dell, Sharon D., additional, Meunier, Alice, additional, Czymmek, Kirk, additional, Mahjoub, Moe R., additional, and Mennella, Vito, additional

Published
2020
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43. A novel isoform ofACE2is expressed in human nasal and bronchial respiratory epithelia and is upregulated in response to RNA respiratory virus infection

Author

Blume, Cornelia, primary, Jackson, Claire L, additional, Spalluto, Cosma Mirella, additional, Legebeke, Jelmer, additional, Nazlamova, Liliya, additional, Conforti, Franco, additional, Perotin-Collard, Jeanne-Marie, additional, Frank, Martin, additional, Crispin, Max, additional, Coles, Janice, additional, Thompson, James, additional, Ridley, Robert A, additional, Dean, Lareb S N, additional, Loxham, Matthew, additional, Azim, Adnan, additional, Tariq, Kamran, additional, Johnston, David, additional, Skipp, Paul J, additional, Djukanovic, Ratko, additional, Baralle, Diana, additional, McCormick, Chris, additional, Davies, Donna E, additional, Lucas, Jane S, additional, Wheway, Gabrielle, additional, and Mennella, Vito, additional

Published
2020
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44. A quantitative super-resolution imaging toolbox for diagnosis of motile ciliopathies

Author

Liu, Zhen, primary, Nguyen, Quynh P. H., additional, Guan, Qingxu, additional, Albulescu, Alexandra, additional, Erdman, Lauren, additional, Mahdaviyeh, Yasaman, additional, Kang, Jasmine, additional, Ouyang, Hong, additional, Hegele, Richard G., additional, Moraes, Theo, additional, Goldenberg, Anna, additional, Dell, Sharon D., additional, and Mennella, Vito, additional

Published
2020
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45. Ammonium salts are a reservoir of nitrogen on a cometary nucleus and possibly on some asteroids

Author

Poch, Olivier, primary, Istiqomah, Istiqomah, additional, Quirico, Eric, additional, Beck, Pierre, additional, Schmitt, Bernard, additional, Theulé, Patrice, additional, Faure, Alexandre, additional, Hily-Blant, Pierre, additional, Bonal, Lydie, additional, Raponi, Andrea, additional, Ciarniello, Mauro, additional, Rousseau, Batiste, additional, Potin, Sandra, additional, Brissaud, Olivier, additional, Flandinet, Laurène, additional, Filacchione, Gianrico, additional, Pommerol, Antoine, additional, Thomas, Nicolas, additional, Kappel, David, additional, Mennella, Vito, additional, Moroz, Lyuba, additional, Vinogradoff, Vassilissa, additional, Arnold, Gabriele, additional, Erard, Stéphane, additional, Bockelée-Morvan, Dominique, additional, Leyrat, Cédric, additional, Capaccioni, Fabrizio, additional, De Sanctis, Maria Cristina, additional, Longobardo, Andrea, additional, Mancarella, Francesca, additional, Palomba, Ernesto, additional, and Tosi, Federico, additional

Published
2020
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46. Whole genome sequencing in the diagnosis of primary ciliary dyskinesia.

Author

Wheway, Gabrielle, Thomas, N. Simon, Carroll, Mary, Coles, Janice, Doherty, Regan, Goggin, Patricia, Green, Ben, Harris, Amanda, Hunt, David, Jackson, Claire L., Lord, Jenny, Mennella, Vito, Thompson, James, Walker, Woolf T., and Lucas, Jane S.

Subjects
WHOLE genome sequencing, CILIARY motility disorders, SINGLE nucleotide polymorphisms, GENETIC variation, DIAGNOSIS, EXOMES, MISSENSE mutation
Abstract

Background: It is estimated that 1–13% of cases of bronchiectasis in adults globally are attributable to primary ciliary dyskinesia (PCD) but many adult patients with bronchiectasis have not been investigated for PCD. PCD is a disorder caused by mutations in genes required for motile cilium structure or function, resulting in impaired mucociliary clearance. Symptoms appear in infancy but diagnosis is often late or missed, often due to the lack of a "gold standard" diagnostic tool and non-specific symptoms. Mutations in > 50 genes account for around 70% of cases, with additional genes, and non-coding, synonymous, missense changes or structural variants (SVs) in known genes presumed to account for the missing heritability. Methods: UK patients with no identified genetic confirmation for the cause of their PCD or bronchiectasis were eligible for whole genome sequencing (WGS) in the Genomics England Ltd 100,000 Genomes Project. 21 PCD probands and 52 non-cystic fibrosis (CF) bronchiectasis probands were recruited in Wessex Genome Medicine Centre (GMC). We carried out analysis of single nucleotide variants (SNVs) and SVs in all families recruited in Wessex GMC. Results: 16/21 probands in the PCD cohort received confirmed (n = 9), probable (n = 4) or possible (n = 3) diagnosis from WGS, although 13/16 of these could have been picked up by current standard of care gene panel testing. In the other cases, SVs were identified which were missed by panel testing. We identified variants in novel PCD candidate genes (IFT140 and PLK4) in 2 probands in the PCD cohort. 3/52 probands in the non-CF bronchiectasis cohort received a confirmed (n = 2) or possible (n = 1) diagnosis of PCD. We identified variants in novel PCD candidate genes (CFAP53 and CEP164) in 2 further probands in the non-CF bronchiectasis cohort. Conclusions: Genetic testing is an important component of diagnosing PCD, especially in cases of atypical disease history. WGS is effective in cases where prior gene panel testing has found no variants or only heterozygous variants. In these cases it may detect SVs and is a powerful tool for novel gene discovery. [ABSTRACT FROM AUTHOR]

Published
2021
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