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These animals show high perinatal mortality (90%) due to respiratory failure. The lungs of glycogenin-deficient embryos and P0 mice have a lower glycogen content than that of wild-type counterparts. Embryonic lungs were found to have decreased levels of mature surfactant proteins SP-B and SP-C, together with incomplete processing of precursors. Furthermore, non-surviving pups showed collapsed sacculi, which may be linked to a significantly reduced amount of surfactant proteins. A similar pattern was observed in glycogen synthase1-deficient mice, which are devoid of glycogen in the lungs and are also affected by high perinatal mortality due to atelectasis.<\/jats:p><jats:p>These results indicate that glycogen availability is a key factor for the burst of surfactant production required to ensure correct lung expansion at the establishment of air breathing. Our findings confirm that glycogen deficiency in lungs can cause respiratory distress syndrome and suggest that mutations in glycogenin and glycogen synthase 1 genes may underlie cases of idiopathic neonatal death.<\/jats:p>","DOI":"10.1093\/hmg\/ddaa249","type":"journal-article","created":{"date-parts":[[2020,11,17]],"date-time":"2020-11-17T20:08:54Z","timestamp":1605643734000},"page":"3554-3565","source":"Crossref","is-referenced-by-count":4,"title":["Pulmonary glycogen deficiency as a new potential cause of respiratory distress syndrome"],"prefix":"10.1093","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0540-5491","authenticated-orcid":false,"given":"Giorgia","family":"Testoni","sequence":"first","affiliation":[{"name":"Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, 08028 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B\u00e1rbara","family":"Olmeda","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biology, and Research Institute of Hospital 12 de Octubre, Complutense University, 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordi","family":"Duran","sequence":"additional","affiliation":[{"name":"Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, 08028 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Diabetes y Enfermedades Metab\u00f3licas Asociadas (CIBERDEM), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"L\u00f3pez-Rodr\u00edguez","sequence":"additional","affiliation":[{"name":"Institute of Functional Anatomy Wilhelm-Waldeyer-Haus, Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin, 10117 Berlin, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f2nica","family":"Aguilera","sequence":"additional","affiliation":[{"name":"Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, 08028 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Isabel","family":"Hern\u00e1ndez-\u00c1lvarez","sequence":"additional","affiliation":[{"name":"Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, 08028 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Diabetes y Enfermedades Metab\u00f3licas Asociadas (CIBERDEM), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neus","family":"Prats","sequence":"additional","affiliation":[{"name":"Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, 08028 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jes\u00fas","family":"P\u00e9rez-Gil","sequence":"additional","affiliation":[{"name":"Department of Biochemistry, Faculty of Biology, and Research Institute of Hospital 12 de Octubre, Complutense University, 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0770-9592","authenticated-orcid":false,"given":"Joan J","family":"Guinovart","sequence":"additional","affiliation":[{"name":"Institute for Research in Biomedicine (IRB Barcelona), Barcelona Institute of Science and Technology, 08028 Barcelona, Spain"},{"name":"Centro de Investigaci\u00f3n Biom\u00e9dica en Red de Diabetes y Enfermedades Metab\u00f3licas Asociadas (CIBERDEM), 28029 Madrid, Spain"},{"name":"Department of Biochemistry and Molecular Biomedicine, University of Barcelona, 08028 Barcelona, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,11,20]]},"reference":[{"key":"2021010701305731200_ref1","first-page":"517","article-title":"Surface properties in relation to atelectasis and hyaline membrane disease","volume":"97","author":"Avery","year":"1959","journal-title":"AMA J. 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