{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,6]],"date-time":"2025-11-06T20:10:05Z","timestamp":1762459805508,"version":"3.41.2"},"reference-count":65,"publisher":"The Company of Biologists","issue":"1","license":[{"start":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T00:00:00Z","timestamp":1612742400000},"content-version":"vor","delay-in-days":404,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","award":["PI16\/01492"],"award-info":[{"award-number":["PI16\/01492"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2020,1,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n               <jats:p>McArdle disease is an autosomal recessive disorder caused by the absence of muscle glycogen phosphorylase, which leads to blocked muscle glycogen breakdown. We used three different cellular models to evaluate the efficiency of different read-through agents (including amlexanox, Ataluren, RTC13 and G418) in McArdle disease. The first model consisted of HeLa cells transfected with two different GFP-PYGM constructs presenting the Pygm p.R50X mutation (GFP-PYGM p.R50X and PYGM Ex1-GFP p.R50X). The second cellular model was based on the creation of HEK293T cell lines stably expressing the PYGM Ex1-GFP p.R50X construct. As these plasmids encode murine Pygm cDNA without any intron sequence, their transfection in cells would allow for analysis of the efficacy of read-through agents with no concomitant nonsense-mediated decay interference. The third model consisted of skeletal muscle cultures derived from the McArdle mouse model (knock-in for the p.R50X mutation in the Pygm gene). We found no evidence of read-through at detectable levels in any of the models evaluated. We performed a literature search and compared the premature termination codon context sequences with reported positive and negative read-through induction, identifying a potential role for nucleotide positions \u22129, \u22128, \u22123, \u22122, +13 and +14 (the first nucleotide of the stop codon is assigned as +1). The Pygm p.R50X mutation presents TGA as a stop codon, G nucleotides at positions \u22121 and \u22129, and a C nucleotide at \u22123, which potentially generate a good context for read-through induction, counteracted by the presence of C at \u22122 and its absence at +4.<\/jats:p>","DOI":"10.1242\/dmm.043281","type":"journal-article","created":{"date-parts":[[2019,12,17]],"date-time":"2019-12-17T16:35:14Z","timestamp":1576600514000},"source":"Crossref","is-referenced-by-count":7,"title":["Absence of p.R50X <i>Pygm<\/i> read-through in McArdle disease cellular models"],"prefix":"10.1242","volume":"13","author":[{"given":"Guillermo","family":"Tarras\u00f3","sequence":"first","affiliation":[{"name":"Vall d'Hebron Institut de Recerca, Universitat Aut\u00f2noma de Barcelona 1 Mitochondrial and Neuromuscular Disorders Unit , , Barcelona 08035 , Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) 2 , Madrid 28029 , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alberto","family":"Real-Martinez","sequence":"additional","affiliation":[{"name":"Vall d'Hebron Institut de Recerca, Universitat Aut\u00f2noma de Barcelona 1 Mitochondrial and Neuromuscular Disorders Unit , , Barcelona 08035 , Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) 2 , Madrid 28029 , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Par\u00e9s","sequence":"additional","affiliation":[{"name":"Vall d'Hebron Institut de Recerca, Universitat Aut\u00f2noma de Barcelona 3 Gene and Cell Therapy Unit , , Barcelona 08035 , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1080-3774","authenticated-orcid":false,"given":"L\u00eddia","family":"Romero-Cortadellas","sequence":"additional","affiliation":[{"name":"Vall d'Hebron Institut de Recerca, Universitat Aut\u00f2noma de Barcelona 3 Gene and Cell Therapy Unit , , Barcelona 08035 , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Puigros","sequence":"additional","affiliation":[{"name":"Vall d'Hebron Institut de Recerca, Universitat Aut\u00f2noma de Barcelona 3 Gene and Cell Therapy Unit , , Barcelona 08035 , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2630-7911","authenticated-orcid":false,"given":"Laura","family":"Moya","sequence":"additional","affiliation":[{"name":"Vall d'Hebron Institut de Recerca, Universitat Aut\u00f2noma de Barcelona 3 Gene and Cell Therapy Unit , , Barcelona 08035 , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Noem\u00ed","family":"de Luna","sequence":"additional","affiliation":[{"name":"Institut de Recerca Hospital de la Santa Creu i Sant Pau, Universitat Aut\u00f2noma de Barcelona 4 Laboratori de Malalties Neuromusculars , , Barcelona 08041 , 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Research Institute (i+12) 6 Mitochondrial and Neuromuscular Diseases Laboratory , , Madrid 28041 , Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) 2 , Madrid 28029 , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Lucia","sequence":"additional","affiliation":[{"name":"12 de Octubre Hospital Research Institute (i+12) 6 Mitochondrial and Neuromuscular Diseases Laboratory , , Madrid 28041 , Spain"},{"name":"European University 7 Faculty of Sport Sciences , , Madrid 28670 , Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antoni L.","family":"Andreu","sequence":"additional","affiliation":[{"name":"Vall d'Hebron Institut de Recerca, Universitat Aut\u00f2noma de Barcelona 1 Mitochondrial and Neuromuscular Disorders Unit , , Barcelona 08035 , Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Enfermedades Raras (CIBERER) 2 , Madrid 28029 , 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