MTFP1 controls mitochondrial fusion to regulate inner membrane quality control and maintain mtDNA levels

Authors: Tábara, Luis Carlos, Burr, Stephen P., Frison, Michele, Chowdhury, Suvagata R., Paupe, Vincent, Nie, Yu, Johnson, Mark, Villar-Azpillaga, Jara, Viegas, Filipa, Segawa, Mayuko, Anand, Hanish, Petkevicius, Kasparas, Chinnery, Patrick F., Prudent, Julien

Source: In Cell 11 July 2024 187(14):3619-3637

Factors associated with the severity of COVID‐19 outcomes in people with neuromuscular diseases: Data from the International Neuromuscular COVID‐19 Registry

Authors: Pizzamiglio, Chiara, Pitceathly, Robert D. S., Lunn, Michael P., Brady, Stefen, De Marchi, Fabiola, Galan, Lucia, Heckmann, Jeannine M., Horga, Alejandro, Molnar, Maria J., Oliveira, Acary S. B., Pinto, Wladimir B. V. R., Primiano, Guido, Santos, Ernestina, Schoser, Benedikt, Servidei, Serenella, Sgobbi Souza, Paulo V., Venugopalan, Vishnu, Hanna, Michael G., Dimachkie, Mazen M., Machado, Pedro M., Lim, Albert, Elsaddig, Amar, Juanatey, Ana, Romeiro, Ana, Themistocleous, Andreas, Kiss‐Csenki, Annamaria, Guerrero Sola, Antonio, Patil, Anuja, Duggal, Ashish, Gabriel, Carolyn, Marshall, Charles, Record, Christopher, Allen, Claire, Bearden, David, Rathna Sabapathi, DeviPriya, R, Dileep, Vecchio, Domizia, Newman, Edward, Eshun, Edwin, Foo, Eng C., Bugiardini, Enrico, Burke, Georgina, Ramdharry, Gita, Gorman, Gràinne S., Kumar, Guru, Sivasathiaseelan, Harri, Braga Farias, Igor, Smuts, Izelle, Holt, James, Groothuis, Jan T., Pritchard, Jane, Wall, Jasmine, Gamez, Josep, Shakthi, K. J. S., Wannop, Kate, Brennan, Kathryn, Saavedra, Lillian, Clayton, Lisa, Househam, Liz, Skorupinska, Mariola, Laura, Matilde, Ciocca, Matteo, Zosmer, Maya, Dhamne, Megha, Mancuso, Michelangelo, Janssen, Mirian, Musumeci, Olimpia, Price, Olivia, Chinnery, Patrick F., Ambrose, Philip, Mehta, Puja R., Thomas, Rhys H., Horvath, Rita, McFarland, Robert, Nortley, Ross, Paterson, Ross W., Geraldes, Ruth, Keh, Ryan, Neshuku, Saara, Sasidharan, Sandhya, Menon R, Sarath, Raga, Sharika, Rinaldi, Simon, Yareeda, Sireesha, Desai, Soaham, Ramaratnam, Sridharan, Keddie, Stephen, Watson‐Fargie, Taylor, Evangelista, Teresinha, Sansone, Valeria, Nesbitt, Victoria, Macken, William L., Oktay, Yavuz

Source: European journal of neurology. 30(2):399-412

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100170246910.0x000001&indx=1&recIds=ETOCvdc_100170246910.0x000001

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Authors: Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., Philippe, Christophe

Source: In Genetics in Medicine April 2023 25(4)

Cell lineage-specific mitochondrial resilience during mammalian organogenesis

Authors: Burr, Stephen P., Klimm, Florian, Glynos, Angelos, Prater, Malwina, Sendon, Pamella, Nash, Pavel, Powell, Christopher A., Simard, Marie-Lune, Bonekamp, Nina A., Charl, Julia, Diaz, Hector, Bozhilova, Lyuba V., Nie, Yu, Zhang, Haixin, Frison, Michele, Falkenberg, Maria, Jones, Nick, Minczuk, Michal, Stewart, James B., Chinnery, Patrick F.

Source: In Cell 16 March 2023 186(6):1212-1229

Modulating mitochondrial DNA mutations: factors shaping heteroplasmy in the germ line and somatic cells

Authors: Chiaratti, Marcos R., Chinnery, Patrick F.

Source: In Pharmacological Research November 2022 185

The human mitochondrial genome contains a second light strand promoter

Authors: Tan, Benedict G., Mutti, Christian D., Shi, Yonghong, Xie, Xie, Zhu, Xuefeng, Silva-Pinheiro, Pedro, Menger, Katja E., Díaz-Maldonado, Héctor, Wei, Wei, Nicholls, Thomas J., Chinnery, Patrick F., Minczuk, Michal, Falkenberg, Maria, Gustafsson, Claes M.

Source: In Molecular Cell 6 October 2022 82(19):3646-3660

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression

Authors: Majander, Anna, Jurkute, Neringa, Burté, Florence, Brock, Kristian, João, Catarina, Huang, Houbin, Neveu, Magella M., Chan, Choi Mun, Duncan, Holly J., Kelly, Simon, Burkitt-Wright, Emma, Khoyratty, Fadil, Lai, Yoon Tse, Subash, Mala, Chinnery, Patrick F., Bitner-Glindzicz, Maria, Arno, Gavin, Webster, Andrew R., Moore, Anthony T., Michaelides, Michel, Stockman, Andrew, Robson, Anthony G., Yu-Wai-Man, Patrick

Source: American journal of ophthalmology. 241:9-27

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100169062626.0x000001&indx=1&recIds=ETOCvdc_100169062626.0x000001

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Authors: Ibañez, Kristina, Polke, James, Hagelstrom, R Tanner, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Chinnery, Patrick F, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J, Tucci, Arianna

Source: Lancet neurology. 21(3):234-245

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100155671145.0x000001&indx=1&recIds=ETOCvdc_100155671145.0x000001

Distinction of early complement classical and lectin pathway activation via quantification of C1s/C1-INH and MASP-1/C1-INH complexes using novel ELISAs.

Authors: Hurler, Lisa, Toonen, Erik J. M., Kajdácsi, Erika, van Bree, Bregje, Brandwijk, Ricardo J. M. G. E., de Bruin, Wieke, Lyons, Paul A., Bergamaschi, Laura, Sinkovits, György, Cervenak, László, Würzner, Reinhard, Prohászka, Zoltán, Baker, Stephen, Bradley, John R., Chinnery, Patrick F., Cooper, Daniel J., Dougan, Gordon, Goodfellow, Ian G., Gupta, Ravindra K., Kingston, Nathalie

Source: Frontiers in Immunology; 2025, p1-22, 22p

Subject Terms: COMPLEMENT activation, COVID-19 pandemic, COVID-19, IMMUNOASSAY, ZYMOSAN, ECULIZUMAB

An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants.

Authors: Nmezi, Bruce, Rodriguez Bey, Guillermo, Oranburg, Talia DeFrancesco, Dudnyk, Kseniia, Lardo, Santana M., Herdman, Nathan, Jacko, Anastasia, Rubio, Sandy, Loeza-Alcocer, Emanuel, Kofler, Julia, Kim, Dongkyeong, Rankin, Julia, Kivuva, Emma, Gutowski, Nicholas, Schon, Katherine, van den Ameele, Jelle, Chinnery, Patrick F., Sousa, Sérgio B., Palavra, Filipe, Toro, Camilo

Source: Nature Communications; 2/5/2025, Vol. 16 Issue 1, p1-21, 21p

Subject Terms: GENE expression, LIFE sciences, NUCLEAR proteins, CHROMOSOME duplication, NEUROLOGICAL disorders

Coagulation factor V is a T-cell inhibitor expressed by leukocytes in COVID-19

Authors: Wang, Jun, Kotagiri, Prasanti, Lyons, Paul A., Al-Lamki, Rafia S., Mescia, Federica, Bergamaschi, Laura, Turner, Lorinda, Morgan, Michael D., Calero-Nieto, Fernando J., Bach, Karsten, Mende, Nicole, Wilson, Nicola K., Watts, Emily R., Maxwell, Patrick H., Chinnery, Patrick F., Kingston, Nathalie, Papadia, Sofia, Stirrups, Kathleen E., Walker, Neil, Gupta, Ravindra K., Menon, David K., Allinson, Kieren, Aitken, Sarah J., Toshner, Mark, Weekes, Michael P., Nathan, James A., Walmsley, Sarah R., Ouwehand, Willem H., Kasanicki, Mary, Göttgens, Berthold, Marioni, John C., Smith, Kenneth G.C., Pober, Jordan S., Bradley, John R.

Source: In iScience 18 March 2022 25(3)

Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study

Authors: McDonagh, Ellen M, Rueda, Antonio, Polychronopoulos, Dimitris, Chan, Georgia, Angus-Leppan, Heather, Bhatia, Kailash P, Davison, James E, Festenstein, Richard, Fratta, Pietro, Giunti, Paola, Howard, Robin, Venkata, Laxmi, Laurá, Matilde, McEntagart, Meriel, Menzies, Lara, Morris, Huw, Reilly, Mary M, Robinson, Robert, Rosser, Elisabeth, Faravelli, Francesca, Schrag, Anette, Schott, Jonathan M, Warner, Thomas T, Wood, Nicholas W, Bourn, David, Eggleton, Kelly, Labrum, Robyn, Twiss, Philip, Abbs, Stephen, Santos, Liana, Almheiri, Ghareesa, Sheikh, Isabella, Vandrovcova, Jana, Patch, Christine, Taylor Tavares, Ana Lisa, Hyder, Zerin, Need, Anna, Brittain, Helen, Baple, Emma, Moutsianas, Loukas, Deshpande, Viraj, Perry, Denise L, Ajay, Subramanian S., Chawla, Aditi, Rajan, Vani, Oprych, Kathryn, Chinnery, Patrick F, Douglas, Angela, Wilson, Gill, Ellard, Sian, Temple, I Karen, Mumford, Andrew, McMullan, Dom, Naresh, Kikkeri, Flinter, Frances A, Taylor, Jenny C, Greenhalgh, Lynn, Newman, William, Brennan, Paul, Sayer, John A, Raymond, F Lucy, Chitty, Lyn S, Ambrose, John C., Arumugam, Prabhu, Bleda, Marta, Boardman-Pretty, Freya, Boissiere, Jeanne M., Boustred, Christopher R., Craig, Clare E.H., de Burca, Anna, Devereau, Andrew, Elgar, Greg, Foulger, Rebecca E., Furió-Tarí, Pedro, Hackett, Joanne, Halai, Dina, Hamblin, Angela, Henderson, Shirley, Holman, James, Hubbard, Tim J.P., Jackson, Rob, Jones, Louise J., Kayikci, Melis, Lahnstein, Lea, Lawson, Kay, Leigh, Sarah E.A., Leong, Ivonne U.S., Lopez, Javier F., Maleady-Crowe, Fiona, Mason, Joanne, Mueller, Michael, Murugaesu, Nirupa, Odhams, Chris A., Perez-Gil, Daniel, Pullinger, John, Rahim, Tahrima, Riesgo-Ferreiro, Pablo, Rogers, Tim, Ryten, Mina, Savage, Kevin, Sawant, Kushmita, Siddiq, Afshan, Sieghart, Alexander, Smedley, Damian, Sosinsky, Alona, Spooner, William, Stevens, Helen E., Stuckey, Alexander, Sultana, Razvan, Thompson, Simon R., Tregidgo, Carolyn, Walsh, Emma, Watters, Sarah A., Welland, Matthew J., Williams, Eleanor, Witkowska, Katarzyna, Wood, Suzanne M., Zarowiecki, Magdalena, Ibañez, Kristina, Polke, James ^*, Hagelstrom, R Tanner ^*, Dolzhenko, Egor, Pasko, Dorota, Thomas, Ellen Rachel Amy, Daugherty, Louise C, Kasperaviciute, Dalia, Smith, Katherine R, Deans, Zandra C, Hill, Sue, Fowler, Tom, Scott, Richard H, Hardy, John, Houlden, Henry, Rendon, Augusto, Caulfield, Mark J, Eberle, Michael A, Taft, Ryan J ^**, Tucci, Arianna ^*

Source: In The Lancet Neurology March 2022 21(3):234-245

Rare disease gene association discovery in the 100,000 Genomes Project

Authors: Cipriani, Valentina, Vestito, Letizia, Magavern, Emma F., Jacobsen, Julius O. B., Arno, Gavin, Behr, Elijah R., Benson, Katherine A., Bertoli, Marta, Bockenhauer, Detlef, Bowl, Michael R., Burley, Kate, Chan, Li F., Chinnery, Patrick, Conlon, Peter J., Costa, Marcos A., Davidson, Alice E., Dawson, Sally J., Elhassan, Elhussein A. E., Flanagan, Sarah E., Futema, Marta, Gale, Daniel P., García-Ruiz, Sonia, Corcia, Cecilia Gonzalez, Griffin, Helen R., Hambleton, Sophie, Hicks, Amy R., Houlden, Henry, Houlston, Richard S., Howles, Sarah A., Kleta, Robert, Lekkerkerker, Iris, Lin, Siying, Liskova, Petra, Mitchison, Hannah H., Morsy, Heba, Mumford, Andrew D., Newman, William G., Neatu, Ruxandra, O’Toole, Edel A., Ong, Albert C. M., Pagnamenta, Alistair T., Rahman, Shamima, Rajan, Neil, Robinson, Peter N., Ryten, Mina, Sadeghi-Alavijeh, Omid, Sayer, John A., Shovlin, Claire L., Taylor, Jenny C., Teltsh, Omri, Tomlinson, Ian, Tucci, Arianna, Turnbull, Clare, van Eerde, Albertien M., Ware, James S., Watts, Laura M., Webster, Andrew R., Westbury, Sarah K., Zheng, Sean L., Caulfield, Mark, Smedley, Damian

Source: Nature; 20250101, Issue: Preprints p1-9, 9p

An international classification of inherited metabolic disorders (ICIMD)

Authors: Ferreira, Carlos R., Rahman, Shamima, Keller, Markus, Zschocke, Johannes, Abdenur, Jose, Ali, Houda, Artuch, Rafael, Ballabio, Andrea, Barshop, Bruce, Baumgartner, Matthias, Bertini, Enrico Silvio, Blau, Nenad, Carelli, Valerio, Carroll, Christopher, Chinnery, Patrick F., Christodoulou, John, Cornejo, Veronica, Darin, Niklas, Derks, Terry, Diodato, Daria, Dionisi‐Vici, Carlo, Duley, John A., Fukao, † Toshi, García‐Cazorla, Ángeles, Giugliani, Roberto, Goldstein, Amy, Hoffmann, Georg, Horvath, Rita, Ibarra, Isabel, Inwood, Anita, Jaeken, Jaak, Jimenez‐Mallebrera, Cecilia, Karaa, Amel, Klopstock, Thomas, Kölker, Stefan, Kornblum, Cornelia, Kožich, Viktor, Lamperti, Costanza, Larsson, Nils‐Göran, Lemes, Aida, Lewis, Barry, Mancuso, Michelangelo, McFarland, Robert, Mochel, Fanny, Montoya, Julio, Morava, Eva, Naess, Karin, Okuyama, Torayuki, Olry, Annie, Paquis‐Flucklinger, Veronique, Parikh, Sumit, Patterson, Marc, Pérez de Ferrán, Ceila, Peters, Verena, Prokisch, Holger, Saada, Ann, Salomons, Gajja S., Saudubray, Jean‐Marie, Scarpa, Maurizio, Schara‐Schmidt, Ulrike, Schiff, Manuel, Servidei, Serenella, Smeitink, Jan, Suomalainen, Anu, Tangeraas, Trine, Taylor, Robert W., Thiele, Ines, Thorburn, David, Hove, Johan, der Ploeg, Ans T., Karnebeek, Clara, Visser, Gepke, Vockley, Jerry, Wanders, Ronald, Webster, Dianne, Wedell, Anna, Wiley, Veronica, Wredenberg, Anna, Zeviani, Massimo

Source: Journal of inherited metabolic disease. 44(1):164-177

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100123874159.0x000001&indx=1&recIds=ETOCvdc_100123874159.0x000001

Preventing excessive autophagy protects from the pathology of mtDNA mutations in Drosophila melanogaster.

Authors: El Fissi, Najla, Rosenberger, Florian A., Chang, Kai, Wilhalm, Alissa, Barton-Owen, Tom, Hansen, Fynn M., Golder, Zoe, Alsina, David, Wedell, Anna, Mann, Matthias, Chinnery, Patrick F., Freyer, Christoph, Wredenberg, Anna

Source: Nature Communications; 12/23/2024, Vol. 15 Issue 1, p1-15, 15p

Subject Terms: CYTOLOGY, LIFE sciences, CELL physiology, GENETIC testing, DROSOPHILA melanogaster, HOMEOSTASIS

LRPPRC and SLIRP synergize to maintain sufficient and orderly mammalian mitochondrial translation.

Authors: Rubalcava-Gracia, Diana, Bubb, Kristina, Levander, Fredrik, Burr, Stephen P, August, Amelie V, Chinnery, Patrick F, Koolmeister, Camilla, Larsson, Nils-Göran

Source: Nucleic Acids Research; 10/14/2024, Vol. 52 Issue 18, p11266-11282, 17p

Visualizing, quantifying, and manipulating mitochondrial DNA in vivo

Authors: Prole, David L., Chinnery, Patrick F. ^*, Jones, Nick S. ^*

Source: In Journal of Biological Chemistry 18 December 2020 295(51):17588-17601

Epigenetic regulation in the pathophysiology of Lewy body dementia

Authors: Chouliaras, Leonidas ^*, Kumar, Gautham S., Thomas, Alan J., Lunnon, Katie, Chinnery, Patrick F., O’Brien, John T.

Source: In Progress in Neurobiology September 2020 192

Mitochondrial Diseases: A Diagnostic Revolution

Authors: Schon, Katherine R., Ratnaike, Thiloka, van den Ameele, Jelle, Horvath, Rita, Chinnery, Patrick F.

Source: In Trends in Genetics September 2020 36(9):702-717

Chronic pain is common in mitochondrial disease

Authors: van den Ameele, Jelle, Fuge, Joshua, Pitceathly, Robert D.S., Berry, Sarah, McIntyre, Zoe, Hanna, Michael G., Lee, Michael, Chinnery, Patrick F.

Source: In Neuromuscular Disorders May 2020 30(5):413-419