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Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bbadis.2020.165883_bb0455","doi-asserted-by":"crossref","first-page":"98","DOI":"10.3389\/fgene.2014.00098","article-title":"categoryCompare, an analytical tool based on feature annotations","volume":"5","author":"Flight","year":"2014","journal-title":"Front Genet"},{"key":"10.1016\/j.bbadis.2020.165883_bb0460","doi-asserted-by":"crossref","first-page":"458","DOI":"10.1016\/j.cmet.2007.11.001","article-title":"FoxO3 controls autophagy in skeletal muscle in vivo","volume":"6","author":"Mammucari","year":"2007","journal-title":"Cell Metab."},{"key":"10.1016\/j.bbadis.2020.165883_bb0465","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1016\/j.cmet.2007.11.004","article-title":"FoxO3 coordinately activates protein degradation by the autophagic\/lysosomal and proteasomal pathways in atrophying muscle cells","volume":"6","author":"Zhao","year":"2007","journal-title":"Cell Metab."},{"key":"10.1016\/j.bbadis.2020.165883_bb0470","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1038\/nature11895","article-title":"FOXO3A directs a protective autophagy program in haematopoietic stem cells","volume":"494","author":"Warr","year":"2013","journal-title":"Nature"},{"key":"10.1016\/j.bbadis.2020.165883_bb0475","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1126\/science.1204592","article-title":"TFEB links autophagy to lysosomal biogenesis","volume":"332","author":"Settembre","year":"2011","journal-title":"Science"},{"key":"10.1016\/j.bbadis.2020.165883_bb0480","doi-asserted-by":"crossref","first-page":"E242","DOI":"10.1152\/ajpendo.90388.2008","article-title":"The facilitative glucose transporter GLUT3: 20 years of distinction","volume":"295","author":"Simpson","year":"2008","journal-title":"Am. 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