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1. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Author

Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, Seeman, Pavel, and Baets, Jonathan

Published
2015
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2. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease

Author

Azzedine, Hamid, Zavadakova, Petra, Planté-Bordeneuve, Violaine, Vaz Pato, Maria, Pinto, Nuno, Bartesaghi, Luca, Zenker, Jennifer, Poirot, Olivier, Bernard-Marissal, Nathalie, Arnaud Gouttenoire, Estelle, Cartoni, Romain, Title, Alexandra, Venturini, Giulia, Médard, Jean-Jacques, Makowski, Edward, Schöls, Ludger, Claeys, Kristl G., Stendel, Claudia, Roos, Andreas, Weis, Joachim, Dubourg, Odile, Leal Loureiro, José, Stevanin, Giovanni, Said, Gérard, Amato, Anthony, Baraban, Jay, LeGuern, Eric, Senderek, Jan, Rivolta, Carlo, and Chrast, Roman

Published
2013
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4. Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures

Author

Jafari Paris, Braissant Olivier, Zavadakova Petra, Henry Hugues, Bonafé Luisa, and Ballhausen Diana

Subjects
Methylmalonic aciduria, Methylmalonate, 2-methylcitrate, Propionate, Hyperammonemia, Apoptosis, Brain damage, Neurotoxicity, Medicine
Abstract

Abstract Background Methylmalonic aciduria is an inborn error of metabolism characterized by accumulation of methylmalonate (MMA), propionate and 2-methylcitrate (2-MCA) in body fluids. Early diagnosis and current treatment strategies aimed at limiting the production of these metabolites are only partially effective in preventing neurological damage. Methods To explore the metabolic consequences of methylmalonic aciduria on the brain, we used 3D organotypic brain cell cultures from rat embryos. We challenged the cultures at two different developmental stages with 1 mM MMA, propionate or 2-MCA applied 6 times every 12 h. In a dose–response experiment cultures were challenged with 0.01, 0.1, 0.33 and 1 mM 2-MCA. Immunohistochemical staining for different brain cell markers were used to assess cell viability, morphology and differentiation. Significant changes were validated by western blot analysis. Biochemical markers were analyzed in culture media. Apoptosis was studied by immunofluorescence staining and western blots for activated caspase-3. Results Among the three metabolites tested, 2-MCA consistently produced the most pronounced effects. Exposure to 2-MCA caused morphological changes in neuronal and glial cells already at 0.01 mM. At the biochemical level the most striking result was a significant ammonium increase in culture media with a concomitant glutamine decrease. Dose–response studies showed significant and parallel changes of ammonium and glutamine starting from 0.1 mM 2-MCA. An increased apoptosis rate was observed by activation of caspase-3 after exposure to at least 0.1 mM 2-MCA. Conclusion Surprisingly, 2-MCA, and not MMA, seems to be the most toxic metabolite in our in vitro model leading to delayed axonal growth, apoptosis of glial cells and to unexpected ammonium increase. Morphological changes were already observed at 2-MCA concentrations as low as 0.01 mM. Increased apoptosis and ammonium accumulation started at 0.1 mM thus suggesting that ammonium accumulation is secondary to cell suffering and/or cell death. Local accumulation of ammonium in CNS, that may remain undetected in plasma and urine, may therefore play a key role in the neuropathogenesis of methylmalonic aciduria both during acute decompensations and in chronic phases. If confirmed in vivo, this finding might shift the current paradigm and result in novel therapeutic strategies.

Published
2013
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5. PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

Author

Azzedine, Hamid, Zavadakova, Petra, Planté-Bordeneuve, Violaine, Vaz Pato, Maria, Pinto, Nuno, Bartesaghi, Luca, Zenker, Jennifer, Poirot, Olivier, Bernard-Marissal, Nathalie, Arnaud Gouttenoire, Estelle, Cartoni, Romain, Title, Alexandra, Venturini, Giulia, Médard, Jean-Jacques, Makowski, Edward, Schöls, Ludger, Claeys, Kristl G., Stendel, Claudia, Roos, Andreas, Weis, Joachim, Dubourg, Odile, Leal Loureiro, José, Stevanin, Giovanni, Said, Gérard, Amato, Anthony, Baraban, Jay, LeGuern, Eric, Senderek, Jan, Rivolta, Carlo, Chrast, Roman, Azzedine, Hamid, Zavadakova, Petra, Planté-Bordeneuve, Violaine, Vaz Pato, Maria, Pinto, Nuno, Bartesaghi, Luca, Zenker, Jennifer, Poirot, Olivier, Bernard-Marissal, Nathalie, Arnaud Gouttenoire, Estelle, Cartoni, Romain, Title, Alexandra, Venturini, Giulia, Médard, Jean-Jacques, Makowski, Edward, Schöls, Ludger, Claeys, Kristl G., Stendel, Claudia, Roos, Andreas, Weis, Joachim, Dubourg, Odile, Leal Loureiro, José, Stevanin, Giovanni, Said, Gérard, Amato, Anthony, Baraban, Jay, LeGuern, Eric, Senderek, Jan, Rivolta, Carlo, and Chrast, Roman

Abstract

Charcot-Marie-Tooth disease (CMT) comprises a clinically and genetically heterogeneous group of peripheral neuropathies characterized by progressive distal muscle weakness and atrophy, foot deformities and distal sensory loss. Following the analysis of two consanguineous families affected by a medium to late-onset recessive form of intermediate CMT, we identified overlapping regions of homozygosity on chromosome 1p36 with a combined maximum LOD score of 5.4. Molecular investigation of the genes from this region allowed identification of two homozygous mutations in PLEKHG5 that produce premature stop codons and are predicted to result in functional null alleles. Analysis of Plekhg5 in the mouse revealed that this gene is expressed in neurons and glial cells of the peripheral nervous system, and that knockout mice display reduced nerve conduction velocities that are comparable with those of affected individuals from both families. Interestingly, a homozygous PLEKHG5 missense mutation was previously reported in a recessive form of severe childhood onset lower motor neuron disease (LMND) leading to loss of the ability to walk and need for respiratory assistance. Together, these observations indicate that different mutations in PLEKHG5 lead to clinically diverse outcomes (intermediate CMT or LMND) affecting the function of neurons and glial cells

Published
2017

6. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Author

Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, Seeman, Pavel, Baets, Jonathan, Safka Brozkova, Dana, Deconinck, Tine, Beth Griffin, Laurie, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, Seeman, Pavel, and Baets, Jonathan

Abstract

Using linkage analysis and whole-exome sequencing, Safka Brozkova et al. reveal missense mutations in the histidyl-tRNA synthetase gene in 23 patients from four families with axonal and demyelinating neuropathies of varying severity. The mutations cause loss of function in yeast complementation assays and neurotoxicity in a C. elegans model

Published
2017

7. 6th International Symposium on Molecular Allergology (ISMA)

Author

Hilger, Christiane, primary, Swiontek, Kyra, additional, Fischer, Jörg, additional, Hentges, François, additional, Lehners, Christiane, additional, Morisset, Martine, additional, Eberlein, Bernadette, additional, Biedermann, Tilo, additional, Ollert, Markus, additional, Wildner, Sabrina, additional, Stemeseder, Teresa, additional, Freier, Regina, additional, Briza, Peter, additional, Lang, Roland, additional, Batanero, Eva, additional, Villalba, Mayte, additional, Lidholm, Jonas, additional, Hawranek, Thomas, additional, Ferreira, Fatima, additional, Brandstetter, Hans, additional, Gadermaier, Gabriele, additional, Moingeon, Philippe, additional, Groeme, Rachel, additional, Bouley, Julien, additional, Bordas, Véronique, additional, Le Mignon, Maxime, additional, Bussières, Laetitia, additional, Lautrette, Aurélie, additional, Mascarell, Laurent, additional, Lombardi, Vincent, additional, Baron-Bodo, Véronique, additional, Chabre, Henri, additional, Batard, Thierry, additional, Nony, Emmanuel, additional, De Amicis, Karine Marafigo, additional, Watanabe, Alexandra Sayuri, additional, Figo, Daniele Danella, additional, Dos Santos-Pinto, José Roberto Aparecido, additional, Palma, Mario Sergio, additional, Castro, Fabio Fernandes Morato, additional, Kalil, Jorge, additional, Wohlschlager, Therese, additional, Ferreira-Briza, Fatima, additional, Santos, Keity Souza, additional, Faber, Margaretha, additional, Van Gasse, Athina, additional, Sabato, Vito, additional, Hagendorens, Margo M., additional, Bridts, Chris H., additional, De Clerck, Luc S., additional, Perales, Araceli Diaz, additional, Ebo, Didier, additional, Zavadakova, Petra, additional, Buchwalder, Aurélie, additional, Rebeaud, Fabien, additional, Märki, Iwan, additional, Gepp, Barbara, additional, Lengger, Nina, additional, Möbs, Christian, additional, Pfützner, Wolfgang, additional, Radauer, Christian, additional, Bohle, Barbara, additional, Galvao, Clovis Eduardo, additional, Santos-Pinto, Jose Roberto Aparecido, additional, Schwager, Christian, additional, Kull, Skadi, additional, Schocker, Frauke, additional, Behrends, Jochen, additional, Becker, Wolf-Meinhard, additional, Jappe, Uta, additional, Mastrorilli, Carla, additional, Tripodi, Salvatore, additional, Caffarelli, Carlo, additional, Asero, Riccardo, additional, Dondi, Arianna, additional, Ricci, Giampaolo, additional, Dascola, Carlotta Povesi, additional, Calamelli, Elisabetta, additional, Di Rienzo Businco, Andrea, additional, Bianchi, Annamaria, additional, Frediani, Tullio, additional, Verga, Carmen, additional, Iacono, Iride Dello, additional, Peroni, Diego, additional, Pingitore, Giuseppe, additional, Bernardini, Roberto, additional, Matricardi, Paolo Maria, additional, Hofer, Heidi, additional, Asam, Claudia, additional, Hauser, Michael, additional, Himly, Martin, additional, Ebner, Christof, additional, Lemoine, Pierrick, additional, Jain, Karine, additional, Abiteboul, Kathy, additional, Arvidsson, Monica, additional, Rak, Sabina, additional, Mota, Inês, additional, Garcia, Filipe Benito, additional, Gaspar, Angela, additional, Arêde, Cristina, additional, Piedade, Susana, additional, Sampaio, Graça, additional, Pires, Graça, additional, Borrego, Luís Miguel, additional, Santa-Marta, Cristina, additional, Morais-Almeida, Mário, additional, Popescu, Florin-Dan, additional, Vieru, Mariana, additional, Secureanu, Florin-Adrian, additional, Fernandes, Rosa Anita Rodrigues, additional, Carrapatoso, Isabel, additional, Gomes, Raquel, additional, Pereira, Celso, additional, Todo-Bom, Ana, additional, De Basoa, María Cecilia Martín Fernández, additional, Regio, Javier Barrios, additional, De Castro Cordova, Juan, additional, Ferreiro, Antón Fernández, additional, Tsilochristou, Olympia, additional, Perna, Serena, additional, Schwarz, Alina, additional, Rohrbach, Alexander, additional, Cappella, Antonio, additional, Hatzler, Laura, additional, Bauer, Carl-Peter, additional, Hoffmann, Ute, additional, Forster, Johannes, additional, Zepp, Fred, additional, Schuster, Antje, additional, D’amelio, Raffael, additional, Wahn, Ulrich, additional, Keil, Thomas, additional, Lau, Susanne, additional, Apoil, Pol André, additional, Mailhol, Claire, additional, Broué-Chabbert, Anne, additional, Juchet, Agnès, additional, Didier, Alain, additional, Carrer, Elodie, additional, Lanot, Thomas, additional, Blancher, Antoine, additional, Kurtaj, Almedina, additional, Hillebrand, Christoph, additional, Fichtinger, Gerda, additional, Danzer, Martin, additional, Gabriel, Christian, additional, Thalhamer, Theresa, additional, Scheiblhofer, Sandra, additional, Thalhamer, Josef, additional, Weiss, Richard, additional, Wolf, Martin, additional, Pichler, Ulrike, additional, Twaroch, Teresa, additional, Yokoi, Hidenori, additional, Takai, Toshiro, additional, Didierlaurent, Alain, additional, Mari, Adriano, additional, Behrendt, Heidrun, additional, Neubauer, Angela, additional, Stolz, Frank, additional, Ferreira, Fátima, additional, Wallner, Michael, additional, Carvalho, Sara, additional, Lourenço, Tatiana, additional, Cosme, Joana, additional, Duarte, Fátima Cabral, additional, Santos, Amélia Spínola, additional, Costa, Ana Célia, additional, Barbosa, Manuel Pereira, additional, Klinglmayr, Eva, additional, Schweidler, Bettina, additional, Lueftenegger, Lisa, additional, Moser, Stephanie, additional, Doppler, Patrick, additional, Oostingh, Gertie J., additional, Bathke, Arne, additional, Zumbach, Joerg, additional, Panzner, Petr, additional, Vachova, Martina, additional, Vlas, Tomas, additional, Maly, Marek, additional, Posa, Daniela, additional, Hofmaier, Stephanie, additional, Stock, Philippe, additional, Grabenhenrich, Linus, additional, Chen, Kuan-Wei, additional, Resch, Yvonne, additional, Vrtala, Susanne, additional, Valenta, Rudolf, additional, Abramidze, Tamar, additional, Lomidze, Nino, additional, Gotua, Maia, additional, Dapkeviciute, Austeja, additional, Einikyte, Ruta, additional, Norkuniene, Jolita, additional, Skrickiene, Laima, additional, Miskiniene, Asta, additional, Kvedariene, Violeta, additional, Schiener, Maximilian, additional, Moreno-Aguilar, Carmen, additional, Pietsch, Gunilla, additional, Intyre, Mareike Mc, additional, Schwarze, Lea, additional, Rußkamp, Dennis, additional, Spillner, Edzard, additional, Darsow, Ulf, additional, Schmidt-Weber, Carsten, additional, Blank, Simon, additional, Longé, Cyril, additional, Brazdova, Andrea, additional, Brunet, Jean-Louis, additional, Schwartz, Claire, additional, Girodet, Bruno, additional, Lavaud, François, additional, Birnbaum, Joelle, additional, Thi, Nhân Pham, additional, Duchateau, Magalie, additional, Chamot-Rooke, Julia, additional, Guilloux, Laurence, additional, Selva, Marie-Ange, additional, Couderc, Rémy, additional, Sénéchal, Hélène, additional, Sutra, Jean-Pierre, additional, Poncet, Pascal, additional, Augustin, Steffen, additional, Pump, Linda, additional, Wald, Martin, additional, Eichhorn, Thomas, additional, Fischer, Frank, additional, Willers, Christoph, additional, Miehe, Michaela, additional, Plum, Melanie, additional, Wolf, Sara, additional, Jabs, Frederic, additional, Raiber, Tim, additional, Bantleon, Frank, additional, Seismann, Henning, additional, Jakob, Thilo, additional, Apostolovic, Danijela, additional, Tran, Anh Thu, additional, Sanchez-Vidaurre, Sara, additional, Velickovic, Tanja Cirkovic, additional, Starkhammar, Maria, additional, Hamsten, Carl, additional, Van Hage, Marianne, additional, Dubiela, Pawel, additional, Humeniuk, Piotr, additional, Pfeifer, Sabine, additional, Bublin, Merima, additional, Borowski, Tomasz, additional, Hoffmann-Sommergruber, Karin, additional, Verschuren, Martie C. M., additional, Bastiaan-Net, Shanna, additional, Depoortere, Defien, additional, Foetisch, Kay, additional, Scheurer, Stephan, additional, Wichers, Harry J, additional, Noij, Theo, additional, Van Uden, Nikki M.E., additional, Vandenberghe, Karel, additional, Wichers, Harry J., additional, Noij, Theo H. M., additional, Roulias, Anargyros, additional, Parigiani, Maria Alejandra, additional, Ahammer, Linda, additional, Grutsch, Sarina, additional, Tollinger, Martin, additional, Moya, Raquel, additional, López-Matas, Mª Angeles, additional, Reyes, Raquel, additional, Carnés, Jerónimo, additional, Larré, Colette, additional, Rogniaux, Hélène, additional, Lupi, Roberta, additional, Denery-Papini, Sandra, additional, Pablos, Isabel Maria, additional, Eichhorn, Stephanie, additional, Machado, Yoan, additional, Park, Jung-Won, additional, Arora, Naveen, additional, Vieths, Stefan, additional, Tanaka, Charlene, additional, Pineau, Florence, additional, Drouet, Martine, additional, Beaudouin, Etienne, additional, Altenbach, Susan, additional, Mameri, Hamza, additional, Brossard, Chantal, additional, Gaudin, Jean Charles, additional, Moneret-Vautrin, Denise Anne, additional, Paty, Evelyne, additional, Tranquet, Olivier, additional, Masci, Stefania, additional, Moneret-Vautrin, Denise-Anne, additional, Petersen, Arnd, additional, Böttger, Marisa, additional, Rennert, Sandra, additional, Krause, Susanne, additional, Ernst, Martin, additional, Gutsmann, Thomas, additional, Bauer, Johann, additional, Lindner, Buko, additional, Koppelman, Stef, additional, Jayasena, Shyamali, additional, Luykx, Dion, additional, Schepens, Erik, additional, De Jong, Govardus, additional, Isleib, Tom, additional, Nordlee, Julie, additional, Baumert, Joe, additional, Taylor, Steve, additional, Maleki, Soheila, additional, Palladino, Chiara, additional, Sirvent, Sofía, additional, Angelina, Alba, additional, Eiwegger, Thomas, additional, Palomares, Oscar, additional, Breiteneder, Heimo, additional, Claude, Mathilde, additional, Bouchaud, Grégory, additional, Bodinier, Marie, additional, Korte, Robin, additional, Bräcker, Julia, additional, Brockmeyer, Jens, additional, Satoh, Rie, additional, Teshima, Reiko, additional, Tscheppe, Angelika, additional, Palmberger, Dieter, additional, Grabherr, Reingard, additional, Raith, Marianne, additional, Sonnleitner, Linda, additional, Zach, Doris, additional, Woroszylo, Konrad, additional, Focke-Tejkl, Margit, additional, Wank, Herbert, additional, Graf, Thorsten, additional, Kuehn, Annette, additional, Swoboda, Ines, additional, Huber, Sara, additional, Gay-Crosier, Fabienne, additional, Polak, Dominika, additional, Nagl, Birgit, additional, Kitzmüller, Claudia, additional, Samadi, Nazanin, additional, Geyeregger, Rene, additional, Jahn-Schmid, Beatrice, additional, Gomez, Ariel, additional, Haka, Jaana, additional, Hattara, Liisa, additional, Heikkinen, Marika, additional, Niemi, Merja H, additional, Rouvinen, Juha, additional, Saviranta, Petri, additional, Mattila, Pekka, additional, Takkinen, Kristiina, additional, Laukkanen, Marja-Leena, additional, Pablos, Isabel, additional, Kastner, Bianca, additional, Silar, Mira, additional, Selb, Julij, additional, Kogovsek, Rok, additional, Kosnik, Mitja, additional, Korosec, Peter, additional, Pestana, Leticia, additional, Melo, Alcinda Campos, additional, Mendes, Ana, additional, Pedro, Maria Elisa, additional, Santos, Maria Conceição Pereira, additional, Bienvenu, Françoise, additional, Goursaud, Claire, additional, Garnier, Lorna, additional, Jacquenet, Sandrine, additional, Degaud, Michaël, additional, Viel, Sébastien, additional, Barre, Annick, additional, Rougé, Pierre, additional, Bienvenu, Jacques, additional, Vitte, Joana, additional, Bensalah, Amel, additional, Cleach, Isabelle, additional, Mousseau, Laurent, additional, Agabriel, Chantal, additional, Liabeuf, Valérie, additional, Birnbaum, Joëlle, additional, Mège, Jean-Louis, additional, Gardner, James, additional, Gandhi, Minal, additional, Kariyawasam, Harsha, additional, Rotiroti, Giuseppina, additional, Regateiro, Frederico, additional, Faria, Emília, additional, Schmid, Johannes Martin, additional, Dahl, Ronald, additional, Hoffmann, Hans Juergen, additional, Pestana, Letícia, additional, Silva, Diana, additional, Vieira, Teresa, additional, Pereira, Ana Maria, additional, Moreira, André, additional, Delgado, Luís, additional, Prates, Sara, additional, Alves, Cátia, additional, Finelli, Elena, additional, Pinto, Paula Leiria, additional, Cardoso, Bárbara Kong, additional, Cruz, Cíntia, additional, Semedo, Filipa, additional, Tomaz, Elza, additional, Inácio, Filipe, additional, Maity, Santanu, additional, Baricevic-Jones, Ivona, additional, Marsh, Justin T., additional, Johnson, Phil E., additional, Balasundaram, Anuradha, additional, Hope, Anya-May, additional, Taekema, Aafke, additional, Simpson, Angela, additional, Semic-Jusufagic, Aida, additional, Clare Mills, E. N., additional, Nelly, Gourdon Dubois, additional, Laetitia, Sellam, additional, Bruno, Pereira, additional, Elodie, Michaud, additional, Khaled, Messaoudi, additional, Bertrand, Evrard, additional, Jean-Luc, Fauquert, additional, Goodman, Richard E., additional, Plata, Elena Rodríguez, additional, Amaral, Luis, additional, Bartolomé, Borja, additional, Coimbra, Alice, additional, Placido, Jose L, additional, Ganea, Carmen Saviana, additional, Costello, Carol Ann, additional, Sorensen, Martin, additional, Mills, Clare, additional, Rogers, Adrian, additional, Otherhals, Aage, additional, Kalic, Tanja, additional, Ellinger, Isabella, additional, Waltl, Eva, additional, Niederberger-Leppin, Verena, additional, Szczepankiewicz, Dawid, additional, Pruszynska-Oszmalek, Ewa, additional, Skrzypski, Marek, additional, Nowak, Krzysztof W., additional, Szczepankiewicz, Aleksandra, additional, Jang, Gwang-Cheon, additional, Markovic, Iva, additional, Borowski, Andreas, additional, Vetter, Tina, additional, Wohlmann, Andreas, additional, Kuepper, Michael, additional, Friedrich, Karlheinz, additional, Gracia, Ibon Eguiluz, additional, Bosco, Anthony, additional, Dollner, Ralph, additional, Melum, Guro Reinholt, additional, Jones, Anya C, additional, Lexberg, Maria, additional, Holt, Patrick G, additional, Bækkevold, Espen Sønderaal, additional, Jahnsen, Frode Lars, additional, Sobkowiak, Paulina, additional, Rachel, Marta, additional, Narozna, Beata, additional, Jenerowicz, Dorota, additional, Swiatowy, Witold, additional, Breborowicz, Anna, additional, Nestelbacher, Reinhard, additional, and Fukui, Hiroyuki, additional

Published
2016
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9. Loss of function mutations inHARScause a spectrum of inherited peripheral neuropathies

Author

Safka Brozkova, Dana, primary, Deconinck, Tine, additional, Beth Griffin, Laurie, additional, Ferbert, Andreas, additional, Haberlova, Jana, additional, Mazanec, Radim, additional, Lassuthova, Petra, additional, Roth, Christian, additional, Pilunthanakul, Thanita, additional, Rautenstrauss, Bernd, additional, Janecke, Andreas R., additional, Zavadakova, Petra, additional, Chrast, Roman, additional, Rivolta, Carlo, additional, Zuchner, Stephan, additional, Antonellis, Anthony, additional, Beg, Asim A., additional, De Jonghe, Peter, additional, Senderek, Jan, additional, Seeman, Pavel, additional, and Baets, Jonathan, additional

Published
2015
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11. Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure

Author

Caburet, Sandrine, primary, Zavadakova, Petra, additional, Ben-Neriah, Ziva, additional, Bouhali, Kamal, additional, Dipietromaria, Aurélie, additional, Charon, Céline, additional, Besse, Céline, additional, Laissue, Paul, additional, Chalifa-Caspi, Vered, additional, Christin-Maitre, Sophie, additional, Vaiman, Daniel, additional, Levi, Giovanni, additional, Veitia, Reiner A., additional, and Fellous, Marc, additional

Published
2012
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12. The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

Author

Suormala, Terttu, Baumgartner, Matthias R; https://orcid.org/0000-0002-9270-0826, Coelho, David, Zavadakova, Petra, Kožich, Viktor, Koch, Hans Georg, Berghaüser, Martin, Wraith, James E, Burlina, Alberto, Sewell, Adrian, Herwig, Jürgen, Fowler, Brian, Suormala, Terttu, Baumgartner, Matthias R; https://orcid.org/0000-0002-9270-0826, Coelho, David, Zavadakova, Petra, Kožich, Viktor, Koch, Hans Georg, Berghaüser, Martin, Wraith, James E, Burlina, Alberto, Sewell, Adrian, Herwig, Jürgen, and Fowler, Brian

Abstract

Intracellular cobalamin is converted to adenosylcobalamin, coenzyme for methylmalonyl-CoA mutase and to methylcobalamin, coenzyme for methionine synthase, in an incompletely understood sequence of reactions. Genetic defects of these steps are defined as cbl complementation groups of which cblC, cblD (described in only two siblings), and cblF are associated with combined homocystinuria and methylmalonic aciduria. Here we describe three unrelated patients belonging to the cblD complementation group but with distinct biochemical phenotypes different from that described in the original cblD siblings. Two patients presented with isolated homocystinuria and reduced formation of methionine and methylcobalamin in cultured fibroblasts, defined as cblD-variant 1, and one patient with isolated methylmalonic aciduria and deficient adenosylcobalamin synthesis in fibroblasts, defined as cblD-variant 2. Cell lines from the cblD-variant 1 patients clearly complemented reference lines with the same biochemical phenotype, i.e. cblE and cblG, and the cblD-variant 2 cell line complemented cells from the mutant classes with isolated deficiency of adenosylcobalamin synthesis, i.e. cblA and cblB. Also, no pathogenic sequence changes in the coding regions of genes associated with the respective biochemical phenotypes were found. These findings indicate heterogeneity within the previously defined cblD mutant class and point to further complexity of intracellular cobalamin metabolism.

Published
2004

13. Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Author

Brozkova, Dana Safka, Deconinck, Tine, Griffin, Laurie Beth, Ferbert, Andreas, Haberlova, Jana, Mazanec, Radim, Lassuthova, Petra, Roth, Christian, Pilunthanakul, Thanita, Rautenstrauss, Bernd, Janecke, Andreas R., Zavadakova, Petra, Chrast, Roman, Rivolta, Carlo, Zuchner, Stephan, Antonellis, Anthony, Beg, Asim A., De Jonghe, Peter, Senderek, Jan, and Seeman, Pavel

Abstract

Inherited peripheral neuropathies are a genetically heterogeneous group of disorders characterized by distal muscle weakness and sensory loss. Mutations in genes encoding aminoacyl-tRNA synthetases have been implicated in peripheral neuropathies, suggesting that these tRNA charging enzymes are uniquely important for the peripheral nerve. Recently, a mutation in histidyl-tRNA synthetase (HARS) was identified in a single patient with a late-onset, sensory-predominant peripheral neuropathy; however, the genetic evidence was lacking, making the significance of the finding unclear. Here, we present clinical, genetic, and functional data that implicate HARS mutations in inherited peripheral neuropathies. The associated phenotypic spectrum is broad and encompasses axonal and demyelinating motor and sensory neuropathies, including four young patients presenting with pure motor axonal neuropathy. Genome-wide linkage studies in combination with whole-exome and conventional sequencing revealed four distinct and previously unreported heterozygous HARS mutations segregating with autosomal dominant peripheral neuropathy in four unrelated families (p.Thr132Ile, p.Pro134His, p.Asp175Glu and p.Asp364Tyr). All mutations cause a loss of function in yeast complementation assays, and p.Asp364Tyr is dominantly neurotoxic in a Caenorhabditis elegans model. This study demonstrates the role of HARS mutations in peripheral neuropathy and expands the genetic and clinical spectrum of aminoacyl-tRNA synthetase-related human disease. [ABSTRACT FROM AUTHOR]

Published
2015
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14. The cblD Defect Causes Either Isolated or Combined Deficiency of Methylcobalamin and Adenosylcobalamin Synthesis

Author

Suormala, Terttu, primary, Baumgartner, Matthias R., additional, Coelho, David, additional, Zavadakova, Petra, additional, Kožich, Viktor, additional, Koch, Hans Georg, additional, Berghaüser, Martin, additional, Wraith, James E., additional, Burlina, Alberto, additional, Sewell, Adrian, additional, Herwig, Jürgen, additional, and Fowler, Brian, additional

Published
2004
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