Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease

Autor: Paola Goffrini, Felice D'Arco, Enrico Baruffini, Adeline Vanderver, Tamison Jewett, Enrico Bertini, Anya Revah-Politi, Eirik Bratland, Vandana Shashi, Alessandra D'Amico, Camilla Ceccatelli Berti, Vimla Aggarwal, Silvia Maitz, Kwame Anyane-Yeboa, Tara H. Stamper, Francesco Canonico, Gabriel S Kupchik, Andreas Benneche, César Augusto Pinheiro Ferreira Alves, Daniela Longo, Gerarda Cappuccio, Annalaura Torella, Vincenzo Nigro, Nicola Brunetti-Pierri, Marjo S van der Knaap, Siren Berland, Jennifer A. Sullivan

Publikováno v: Human Mutation, 42(6), 745-761. Wiley-Liss Inc.
Telethon Undiagnosed Diseases Program 2021, ' Bi-allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease ', Human Mutation, vol. 42, no. 6, pp. 745-761 . https://doi.org/10.1002/humu.24210
Web of Science
Human Mutation

KARS1 encodes a lysyl-transfer RNA synthetase (LysRS) that links lysine to its cognate tRNA. Two different KARS1 isoforms exert functional effects in cytosol and mitochondria. Bi-allelic pathogenic variants in KARS1 have been associated to sensorineu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::882282390879396ca62daaccc96a0201
https://research.vumc.nl/en/publications/ac77c7fb-0db0-43ed-8e07-bd8ed9a17451

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy patients

Autor: Laura Costa-Comellas, Chiara Panicucci, Ana Camacho-Salas, Ulrike Schara, Claudio Semplicini, Isabel Illa, Arturo Fraga-Bau, Leroy ten Dam, Jan De Bleecker, Lea Leonardis, Jesper Helbo Storgaard, Juan Carlos de Leon-Hernández, Vittoria Zangaro, Giacomo P. Comi, Vincenzo Nigro, Adele D'Amico, Benedikt Schoser, Pia Gallano, Manuela Santos, Edoardo Malfatti, Cristina Domínguez-González, F. Munell, De Vos Elke, Alicia Alonso-Jimenez, Matteo Garibaldi, Bjarne Udd, Nicoline Løkken, A. J. van der Kooi, Giorgio Tasca, John Vissing, Jordi Díaz-Manera, Elena Pegoraro, Andrea Gangfuß, Jorge Alonso-Pérez, Claudia Weiss, Luisa Politano, Marie Rohlenová, Cristina Garrido, David Gómez-Andrés, Jana Haberlová, Roberto Fernández-Torrón, Gabriele Dekomien, Kristl G. Claeys, Marianne de Visser, Andrés Nascimento, Michela Guglieri, Carlos Ortez, Isabelle Richard, Lidia Gonzalez-Quereda, Béla Melegh, Claudio Bruno, Omar Abdel-Mannan, Anna Sarkozy, Adolfo López de Munain, Blaz Koritnik, Nicolas Deconinck, Kinga Hadzsiev, Luca Bello, Johanna Palmio, Volker Straub

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2020, 143 (9), pp.2696-2708. ⟨10.1093/brain/awaa228⟩
BRAIN
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Brain
Brain, 143(9), 2696-2708. Oxford University Press
Brain-A Journal of Neurology, 2020, 143 (9), pp.2696-2708. ⟨10.1093/brain/awaa228⟩
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació Biomèdica Sant Pau (IIB Sant Pau)

Sarcoglycanopathies comprise four subtypes of autosomal recessive limb-girdle muscular dystrophies (LGMDR3, LGMDR4, LGMDR5 and LGMDR6) that are caused, respectively, by mutations in the SGCA, SGCB, SGCG and SGCD genes. In 2016, several clinicians inv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44d7af9f5b5c3e103ad67999543f7100
https://hal.archives-ouvertes.fr/hal-03003854v2/document

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Autor: Astrea, G., Romano, A., Angelini, C., Antozzi, C. G., Barresi, R., Battini, R., Battisti, C., Bertini, E., Bruno, C., Cassandrini, D., Fanin, M., Fattori, F., Fiorillo, C., Guerrini, R., Maggi, L., Mercuri, E., Morani, F., Mora, M., Moro, F., Pezzini, I., Picillo, E., Pinelli, M., Politano, L., Rubegni, A., Sanseverino, W., Savarese, M., Striano, P., Torella, A., Trevisan, C. P., Trovato, R., Zaraieva, I., Muntoni, F., Nigro, V., D'Amico, A., Santorelli, F. M., Italian CMD Network, Berardinelli, A., Comi, G., Donati, M. A., Dotti, M., Grandis, M., Magri, F., Maioli, M. A., Malandrini, A., Mari, F., Massa, R., Merlini, L., Moggio, M., Morandi, L. O., Musumeci, O., Pane, M., Pini, A., Pegoraro, E., Pennisi, E. M., Peverelli, L., Ricci, G., Rodolico, C., Ruggiero, L., Sacchini, M., Santoro, L., Siciliano, G., Simonati, A., Tonin, P., Toscano, A.

Publikováno v: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)

Background Dystroglycanopathy (α-DG) is a relatively common, clinically and genetically heterogeneous category of congenital forms of muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD) associated with hypoglycosylated α-dystroglycan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97c387aaa6386176223215e1a8301fe0
https://pubmed.ncbi.nlm.nih.gov/30257713

Burden, professional support, and social network in families of children and young adults with muscular dystrophies

Autor: Alessandra Sagliocchi, Corrado Angelini, Marika Pane, Angela Berardinelli, Luisa Politano, Gian Luca Vita, Michela Catteruccia, Umberto Balottin, Adele D'Amico, Sonia Messina, Roberta Battini, Maria Grazia D'Angelo, Maria Sframeli, Maria Chiara Motta, Lorenza Magliano, Erika Brighina, Giuseppe Vita, Maria Elena Lombardo, Luca Bello, Alessandra Gaiani, Antonella Zaccaro, Melania Patalano, Claudio Semplicini, Marianna Scutifero, Federica Civati, Giulia Colia, Roberta Scalise, Guja Astrea

Publikováno v: Muscle & Nerve

Introduction: This study explores burden and social and professional support in families of young patients with muscular dystrophies (MDs) in Italy. Methods: The study was carried out on 502 key relatives of 4‐ to 25‐year‐old patients suffering

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::317255dfeab91e40557c76f7a0667d44
http://europepmc.org/articles/PMC5029774

Cardiac and Neuromuscular Features of Patients WithLMNA-Related Cardiomyopathy

Autor: Giovanni, Peretto, Chiara, Di Resta, Jacopo, Perversi, Cinzia, Forleo, Lorenzo, Maggi, Luisa, Politano, Andrea, Barison, Stefano C, Previtali, Nicola, Carboni, Francesca, Brun, Elena, Pegoraro, Adele, D'Amico, Carmelo, Rodolico, Francesca, Magri, Rosa C, Manzi, Alberto, Palladino, Franco, Isola, Lorenzo, Gigli, Tiziana E, Mongini, Claudio, Semplicini, Chiara, Calore, Giulia, Ricci, Giacomo P, Comi, Lucia, Ruggiero, Enrico, Bertini, Paolo, Bonomo, Gerardo, Nigro, Nicoletta, Resta, Michele, Emdin, Stefano, Favale, Gabriele, Siciliano, Lucio, Santoro, Gianfranco, Sinagra, Giuseppe, Limongelli, Alessandro, Ambrosi, Maurizio, Ferrari, Pier G, Golzio, Paolo Della, Bella, Sara, Benedetti, Simone, Sala

Publikováno v: Annals of Internal Medicine. 171:458

Background Mutations in the LMNA (lamin A/C) gene have been associated with neuromuscular and cardiac manifestations, but the clinical implications of these signs are not well understood. Objective To learn more about the natural history of LMNA-rela

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ddec1390d34838763b34d4b69e3c289
https://doi.org/10.7326/m18-2768