{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,5]],"date-time":"2026-11-05T11:36:21Z","timestamp":1793878581001,"version":"4.7.0"},"reference-count":80,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T00:00:00Z","timestamp":1744588800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T00:00:00Z","timestamp":1744588800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-22-CE17-0031"],"award-info":[{"award-number":["ANR-22-CE17-0031"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Cell Death Discov."],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Glycogen storage disease type III (GSDIII) is a rare genetic disorder leading to abnormal glycogen storage in the liver and skeletal muscle. In this study, we conducted a comparative gene expression analysis of several in vitro and in vivo models and identified galectin-3 as a potential biomarker of the disease. Interestingly, we also observed a significant decrease in galectin-3 expression in mice treated with an AAV gene therapy. Finally, galectin-3 expression was studied in muscle biopsies of GSDIII patients, confirming its increase in patient tissue. Beyond the identification of this novel biomarker, our study offers a new perspective for future therapeutic developments.<\/jats:p>","DOI":"10.1038\/s41420-025-02452-6","type":"journal-article","created":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T07:02:35Z","timestamp":1744614155000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Galectin-3: a novel biomarker of glycogen storage disease type III"],"prefix":"10.1038","volume":"11","author":[{"given":"Lucille","family":"Rossiaud","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quentin","family":"Miagoux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manon","family":"Benabides","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oc\u00e9ane","family":"Reiss","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louisa","family":"Jauze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margot","family":"Jarrige","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5601-3498","authenticated-orcid":false,"given":"H\u00e9l\u00e8ne","family":"Polv\u00e8che","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edoardo","family":"Malfatti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Lafor\u00eat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Ronzitti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3374-6274","authenticated-orcid":false,"given":"Xavier","family":"Nissan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7264-9031","authenticated-orcid":false,"given":"Lucile","family":"Hoch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,4,14]]},"reference":[{"key":"2452_CR1","doi-asserted-by":"publisher","first-page":"85","DOI":"10.1016\/j.bbacli.2016.02.001","volume":"5","author":"MM Adeva-Andany","year":"2016","unstructured":"Adeva-Andany MM, Gonz\u00e1lez-Luc\u00e1n M, Donapetry-Garc\u00eda C, Fern\u00e1ndez-Fern\u00e1ndez C, Ameneiros-Rodr\u00edguez E. Glycogen metabolism in humans. BBA Clin. 2016;5:85\u2013100.","journal-title":"BBA Clin"},{"key":"2452_CR2","doi-asserted-by":"publisher","first-page":"266","DOI":"10.1159\/000484776","volume":"5","author":"R Parvari","year":"1997","unstructured":"Parvari R, Moses S, Shen J, Hershkovitz E, Lerner A, Chen YT. A single-base deletion in the 3\u2019-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. Eur J Hum Genet. 1997;5:266\u201370.","journal-title":"Eur J Hum Genet"},{"key":"2452_CR3","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1038\/sj.ejhg.5200632","volume":"9","author":"R Santer","year":"2001","unstructured":"Santer R, Kinner M, Steuerwald U, Kjaergaard S, Skovby F, Simonsen H, et al. Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. Eur J Hum Genet. 2001;9:388\u201391.","journal-title":"Eur J Hum Genet"},{"key":"2452_CR4","doi-asserted-by":"publisher","first-page":"E68","DOI":"10.1503\/cmaj.140840","volume":"187","author":"I Rousseau-Nepton","year":"2015","unstructured":"Rousseau-Nepton I, Okubo M, Grabs R, FORGE Canada Consortium, Mitchell J, Polychronakos C, et al. A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series. CMAJ. 2015;187:E68\u201373.","journal-title":"CMAJ"},{"key":"2452_CR5","doi-asserted-by":"publisher","first-page":"3194","DOI":"10.3109\/19401736.2015.1007331","volume":"27","author":"FB Rhouma","year":"2016","unstructured":"Rhouma FB, Messai H, Hsouna S, Halim NB, Cherif W, Fadhel SB, et al. History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation. Mitochondrial DNA Part DNA Mapp Seq Anal. 2016;27:3194\u20138.","journal-title":"Mitochondrial DNA Part DNA Mapp Seq Anal"},{"key":"2452_CR6","doi-asserted-by":"publisher","first-page":"167","DOI":"10.1186\/s40478-019-0815-2","volume":"7","author":"P Lafor\u00eat","year":"2019","unstructured":"Lafor\u00eat P, Inoue M, Goillot E, Lefeuvre C, Cagin U, Streichenberger N, et al. Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment. Acta Neuropathol Commun. 2019;7:167.","journal-title":"Acta Neuropathol Commun"},{"key":"2452_CR7","doi-asserted-by":"publisher","first-page":"697","DOI":"10.1007\/s10545-016-9932-2","volume":"39","author":"CP Sentner","year":"2016","unstructured":"Sentner CP, Hoogeveen IJ, Weinstein DA, Santer R, Murphy E, McKiernan PJ, et al. Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome. J Inherit Metab Dis. 2016;39:697\u2013704.","journal-title":"J Inherit Metab Dis"},{"key":"2452_CR8","doi-asserted-by":"publisher","first-page":"2686","DOI":"10.1038\/s41436-019-0561-7","volume":"21","author":"CA Halaby","year":"2019","unstructured":"Halaby CA, Young SP, Austin S, Stefanescu E, Bali D, Clinton LK, et al. Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring. Genet Med. 2019;21:2686\u201394.","journal-title":"Genet Med"},{"key":"2452_CR9","first-page":"100821","volume":"29","author":"G Hijazi","year":"2021","unstructured":"Hijazi G, Paschall A, Young SP, Smith B, Case LE, Boggs T, et al. A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III. Mol Genet Metab Rep. 2021;29:100821.","journal-title":"Mol Genet Metab Rep"},{"key":"2452_CR10","doi-asserted-by":"publisher","first-page":"521","DOI":"10.1002\/jimd.12355","volume":"44","author":"\u00c9 Berling","year":"2021","unstructured":"Berling \u00c9, Lafor\u00eat P, Wahbi K, Labrune P, Petit F, Ronzitti G, et al. Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects. J Inherit Metab Dis. 2021;44:521\u201333.","journal-title":"J Inherit Metab Dis"},{"key":"2452_CR11","first-page":"198","volume":"10","author":"C Chong-Nguyen","year":"2018","unstructured":"Chong-Nguyen C, Fayssoil A, Laforet P, Gajdos V, Petit F, Hubert A, et al. Hypertrophic cardiomyopathy in glycogen storage disease type III: clinical features and long-term outcome. Arch Cardiovasc Dis Suppl. 2018;10:198\u20139.","journal-title":"Arch Cardiovasc Dis Suppl"},{"key":"2452_CR12","doi-asserted-by":"publisher","first-page":"418","DOI":"10.1007\/s10545-008-0830-0","volume":"31","author":"HR Mundy","year":"2008","unstructured":"Mundy HR, Williams JE, Lee PJ, Fewtrell MS. Reduction in bone mineral density in glycogenosis type III may be due to a mixed muscle and bone deficit. J Inherit Metab Dis. 2008;31:418\u201323.","journal-title":"J Inherit Metab Dis"},{"key":"2452_CR13","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/j.bone.2016.02.012","volume":"86","author":"D Melis","year":"2016","unstructured":"Melis D, Rossi A, Pivonello R, Del Puente A, Pivonello C, Cangemi G, et al. Reduced bone mineral density in glycogen storage disease type III: evidence for a possible connection between metabolic imbalance and bone homeostasis. Bone. 2016;86:79\u201385.","journal-title":"Bone"},{"key":"2452_CR14","doi-asserted-by":"publisher","first-page":"705","DOI":"10.1007\/BF00868717","volume":"9","author":"PJ Lee","year":"1995","unstructured":"Lee PJ, Dalton RN, Shah V, Hindmarsh PC, Leonard JV. Glomerular and tubular function in glycogen storage disease. Pediatr Nephrol Berl Ger. 1995;9:705\u201310.","journal-title":"Pediatr Nephrol Berl Ger"},{"key":"2452_CR15","doi-asserted-by":"crossref","unstructured":"Evins A, Mayhew J, Cimms T, Whyte J, Vong K, Hribal E, et al. Glycogen storage disease type III: a mixed-methods study to assess the burden of disease. Ther Adv Endocrinol Metab. 2024;15:20420188231224230.","DOI":"10.1177\/20420188231224233"},{"key":"2452_CR16","doi-asserted-by":"publisher","DOI":"10.1186\/s40001-023-01212-5","volume":"28","author":"C Wicker","year":"2023","unstructured":"Wicker C, Cano A, Decostre V, Froissart R, Maillot F, Perry A, et al. French recommendations for the management of glycogen storage disease type III. Eur J Med Res. 2023;28:253.","journal-title":"Eur J Med Res"},{"key":"2452_CR17","doi-asserted-by":"publisher","first-page":"545","DOI":"10.1007\/s10545-014-9756-x","volume":"38","author":"TGJ Derks","year":"2015","unstructured":"Derks TGJ, Smit GPA. Dietary management in glycogen storage disease type III: what is the evidence? J Inherit Metab Dis. 2015;38:545\u201350.","journal-title":"J Inherit Metab Dis"},{"key":"2452_CR18","doi-asserted-by":"publisher","first-page":"446","DOI":"10.1097\/GIM.0b013e3181e655b6","volume":"12","author":"PS Kishnani","year":"2010","unstructured":"Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, et al. Glycogen storage disease type III diagnosis and management guidelines. Genet Med. 2010;12:446\u201363.","journal-title":"Genet Med"},{"key":"2452_CR19","doi-asserted-by":"publisher","first-page":"103","DOI":"10.1007\/s10545-009-1088-x","volume":"32","author":"AI Dagli","year":"2009","unstructured":"Dagli AI, Zori RT, McCune H, Ivsic T, Maisenbacher MK, Weinstein DA. Reversal of glycogen storage disease type IIIa\u2010related cardiomyopathy with modification of diet. J Inherit Metab Dis. 2009;32:103\u20136.","journal-title":"J Inherit Metab Dis"},{"key":"2452_CR20","doi-asserted-by":"publisher","first-page":"638","DOI":"10.1203\/PDR.0b013e318232154f","volume":"70","author":"V Valayannopoulos","year":"2011","unstructured":"Valayannopoulos V, Bajolle F, Arnoux J-B, Dubois S, Sannier N, Baussan C, et al. Successful treatment of severe cardiomyopathy in glycogen storage disease type III With D,L-3-hydroxybutyrate, ketogenic and high-protein diet. Pediatr Res. 2011;70:638\u201341.","journal-title":"Pediatr Res"},{"key":"2452_CR21","first-page":"13","volume":"5","author":"CP Sentner","year":"2012","unstructured":"Sentner CP, Caliskan K, Vletter WB, Smit GPA. Heart failure due to severe hypertrophic cardiomyopathy reversed by low calorie, high protein dietary adjustments in a glycogen storage disease type IIIa patient. JIMD Rep. 2012;5:13\u201316.","journal-title":"JIMD Rep"},{"key":"2452_CR22","first-page":"100904","volume":"32","author":"B Kumru Akin","year":"2022","unstructured":"Kumru Akin B, Ozturk Hismi B, Daly A. Improvement in hypertrophic cardiomyopathy after using a high-fat, high-protein and low-carbohydrate diet in a non-adherent child with glycogen storage disease type IIIa. Mol Genet Metab Rep. 2022;32:100904.","journal-title":"Mol Genet Metab Rep"},{"key":"2452_CR23","doi-asserted-by":"publisher","DOI":"10.3389\/fnut.2023.1178348","volume":"10","author":"E Massimino","year":"2023","unstructured":"Massimino E, Amoroso AP, Lupoli R, Rossi A, Capaldo B. Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature. Front Nutr. 2023;10:1178348.","journal-title":"Front Nutr"},{"key":"2452_CR24","doi-asserted-by":"publisher","first-page":"240","DOI":"10.1016\/j.omtm.2020.05.034","volume":"18","author":"J-A Lim","year":"2020","unstructured":"Lim J-A, Choi SJ, Gao F, Kishnani PS, Sun B. A novel gene therapy approach for GSD III using an AAV vector encoding a bacterial glycogen debranching enzyme. Mol Ther Methods Clin Dev. 2020;18:240\u20139.","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2452_CR25","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.152970","volume":"7","author":"J-A Lim","year":"2022","unstructured":"Lim J-A, Kishnani PS, Sun B. Suppression of pullulanase-induced cytotoxic T cell response with a dual promoter in GSD IIIa mice. JCI Insight. 2022;7:e152970.","journal-title":"JCI Insight"},{"key":"2452_CR26","doi-asserted-by":"publisher","unstructured":"Gardin A, Rouillon J, Montalvo-Romeral V, Rossiaud L, Vidal P, Launay R, et al. A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III. J Clin Investig. 2024;134. https:\/\/doi.org\/10.1172\/JCI172018.","DOI":"10.1172\/JCI172018"},{"key":"2452_CR27","doi-asserted-by":"publisher","unstructured":"Jauze L, Vie M, Miagoux Q, Rossiaud L, Vidal P, Montalvo-Romeral V, et al. Synergism of dual AAV gene therapy and rapamycin rescues GSDIII phenotype in muscle and liver. JCI Insight. 2024. https:\/\/doi.org\/10.1172\/jci.insight.172614.","DOI":"10.1172\/jci.insight.172614"},{"key":"2452_CR28","doi-asserted-by":"publisher","first-page":"890","DOI":"10.1016\/j.ymthe.2017.12.019","volume":"26","author":"P Vidal","year":"2018","unstructured":"Vidal P, Pagliarani S, Colella P, Costa Verdera H, Jauze L, Gjorgjieva M, et al. Rescue of GSDIII phenotype with gene transfer requires liver- and muscle-targeted GDE expression. Mol Ther. 2018;26:890\u2013901.","journal-title":"Mol Ther"},{"key":"2452_CR29","doi-asserted-by":"publisher","first-page":"467","DOI":"10.1016\/j.ymgme.2014.02.005","volume":"111","author":"K-M Liu","year":"2014","unstructured":"Liu K-M, Wu J-Y, Chen Y-T. Mouse model of glycogen storage disease type III. Mol Genet Metab. 2014;111:467\u201376.","journal-title":"Mol Genet Metab"},{"key":"2452_CR30","doi-asserted-by":"publisher","first-page":"2318","DOI":"10.1016\/j.bbadis.2014.07.029","volume":"1842","author":"S Pagliarani","year":"2014","unstructured":"Pagliarani S, Lucchiari S, Ulzi G, Violano R, Ripolone M, Bordoni A, et al. Glycogen storage disease type III: a novel Agl knockout mouse model. Biochim Biophys Acta. 2014;1842:2318\u201328.","journal-title":"Biochim Biophys Acta"},{"key":"2452_CR31","doi-asserted-by":"publisher","first-page":"194","DOI":"10.1093\/carcin\/bgy139","volume":"40","author":"JL Sottnik","year":"2019","unstructured":"Sottnik JL, Mallaredy V, Chauca-Diaz A, Ritterson Lew C, Owens C, Dancik GM, et al. Elucidating the role of Agl in bladder carcinogenesis by generation and characterization of genetically engineered mice. Carcinogenesis. 2019;40:194\u2013201.","journal-title":"Carcinogenesis"},{"key":"2452_CR32","first-page":"41","volume":"66","author":"ED Brooks","year":"2016","unstructured":"Brooks ED, Yi H, Austin SL, Thurberg BL, Young SP, Fyfe JC, et al. Natural progression of canine glycogen storage disease type IIIa. Comp Med. 2016;66:41\u201351.","journal-title":"Comp Med"},{"key":"2452_CR33","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2023.1163427","volume":"11","author":"L Rossiaud","year":"2023","unstructured":"Rossiaud L, Fragner P, Barbon E, Gardin A, Benabides M, Pellier E, et al. Pathological modeling of glycogen storage disease type III with CRISPR\/Cas9 edited human pluripotent stem cells. Front Cell Dev Biol. 2023;11:1163427.","journal-title":"Front Cell Dev Biol"},{"key":"2452_CR34","doi-asserted-by":"publisher","first-page":"103214","DOI":"10.1016\/j.scr.2023.103214","volume":"72","author":"L Rossiaud","year":"2023","unstructured":"Rossiaud L, Pellier E, Benabides M, Nissan X, Ronzitti G, Hoch L. Generation of three induced pluripotent stem cell lines from patients with glycogen storage disease type III. Stem Cell Res. 2023;72:103214.","journal-title":"Stem Cell Res"},{"key":"2452_CR35","doi-asserted-by":"publisher","first-page":"1145","DOI":"10.5966\/sctm.2015-0224","volume":"5","author":"L Caron","year":"2016","unstructured":"Caron L, Kher D, Lee KL, McKernan R, Dumevska B, Hidalgo A, et al. A human pluripotent stem cell model of facioscapulohumeral muscular dystrophy-affected skeletal muscles. Stem Cells Transl Med. 2016;5:1145\u201361.","journal-title":"Stem Cells Transl Med"},{"key":"2452_CR36","doi-asserted-by":"publisher","first-page":"1428","DOI":"10.3390\/biomedicines10061428","volume":"10","author":"C Bruge","year":"2022","unstructured":"Bruge C, Geoffroy M, Benabides M, Pellier E, Gicquel E, Dhiab J, et al. Skeletal muscle cells derived from induced pluripotent stem cells: a platform for limb girdle muscular dystrophies. Biomedicines. 2022;10:1428.","journal-title":"Biomedicines"},{"key":"2452_CR37","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/75556","volume":"25","author":"M Ashburner","year":"2000","unstructured":"Ashburner M, Ball CA, Blake JA, Botstein D, Butler H, Cherry JM, et al. Gene ontology: tool for the unification of biology. The Gene Ontology Consortium. Nat Genet. 2000;25:25\u201329.","journal-title":"Nat Genet"},{"key":"2452_CR38","doi-asserted-by":"publisher","first-page":"iyad031","DOI":"10.1093\/genetics\/iyad031","volume":"224","author":"SA Aleksander","year":"2023","unstructured":"Gene Ontology Consortium, Aleksander SA, Balhoff J, Carbon S, Cherry JM, Drabkin HJ, et al. The Gene Ontology knowledgebase in 2023. Genetics. 2023;224:iyad031.","journal-title":"Genetics"},{"key":"2452_CR39","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1016\/j.bbagen.2005.12.020","volume":"1760","author":"J Dumic","year":"2006","unstructured":"Dumic J, Dabelic S, Fl\u00f6gel M. Galectin-3: an open-ended story. Biochim Biophys Acta. 2006;1760:616\u201335.","journal-title":"Biochim Biophys Acta"},{"key":"2452_CR40","doi-asserted-by":"publisher","first-page":"69","DOI":"10.1016\/j.devcel.2019.10.025","volume":"52","author":"J Jia","year":"2020","unstructured":"Jia J, Claude-Taupin A, Gu Y, Choi SW, Peters R, Bissa B, et al. Galectin-3 coordinates a cellular system for lysosomal repair and removal. Dev Cell. 2020;52:69\u201387.e8.","journal-title":"Dev Cell"},{"key":"2452_CR41","doi-asserted-by":"publisher","first-page":"530","DOI":"10.1111\/j.1462-5822.2009.01415.x","volume":"12","author":"I Paz","year":"2010","unstructured":"Paz I, Sachse M, Dupont N, Mounier J, Cederfur C, Enninga J, et al. Galectin-3, a marker for vacuole lysis by invasive pathogens. Cell Microbiol. 2010;12:530\u201344.","journal-title":"Cell Microbiol"},{"key":"2452_CR42","doi-asserted-by":"publisher","first-page":"2336","DOI":"10.1038\/emboj.2013.171","volume":"32","author":"I Maejima","year":"2013","unstructured":"Maejima I, Takahashi A, Omori H, Kimura T, Takabatake Y, Saitoh T, et al. Autophagy sequesters damaged lysosomes to control lysosomal biogenesis and kidney injury. EMBO J. 2013;32:2336.","journal-title":"EMBO J"},{"key":"2452_CR43","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1016\/j.devcel.2016.08.003","volume":"39","author":"S Chauhan","year":"2016","unstructured":"Chauhan S, Kumar S, Jain A, Ponpuak M, Mudd MH, Kimura T, et al. TRIMs and galectins globally cooperate and TRIM16 and galectin-3 co-direct autophagy in endomembrane damage homeostasis. Dev Cell. 2016;39:13\u201327.","journal-title":"Dev Cell"},{"key":"2452_CR44","doi-asserted-by":"publisher","first-page":"1429","DOI":"10.1126\/science.1204592","volume":"332","author":"C Settembre","year":"2011","unstructured":"Settembre C, Di Malta C, Polito VA, Garcia Arencibia M, Vetrini F, Erdin S, et al. TFEB links autophagy to lysosomal biogenesis. Science. 2011;332:1429\u201333.","journal-title":"Science"},{"key":"2452_CR45","first-page":"599","volume":"41","author":"R Dong","year":"2018","unstructured":"Dong R, Zhang M, Hu Q, Zheng S, Soh A, Zheng Y, et al. Galectin-3 as a novel biomarker for disease diagnosis and a target for therapy (Review). Int J Mol Med. 2018;41:599\u2013614.","journal-title":"Int J Mol Med"},{"key":"2452_CR46","first-page":"129","volume":"90","author":"HZ Amin","year":"2017","unstructured":"Amin HZ, Amin LZ, Wijaya IP. Galectin-3: a novel biomarker for the prognosis of heart failure. Clujul Med. 2017;90:129\u201332.","journal-title":"Clujul Med"},{"key":"2452_CR47","doi-asserted-by":"publisher","first-page":"3124","DOI":"10.3390\/ijms23063124","volume":"23","author":"L Boutin","year":"2022","unstructured":"Boutin L, D\u00e9pret F, Gayat E, Legrand M, Chadjichristos CE. Galectin-3 in kidney diseases: from an old protein to a new therapeutic target. Int J Mol Sci. 2022;23:3124.","journal-title":"Int J Mol Sci"},{"key":"2452_CR48","doi-asserted-by":"publisher","first-page":"779","DOI":"10.1080\/14728222.2023.2258280","volume":"27","author":"AC Mackinnon","year":"2023","unstructured":"Mackinnon AC, Tonev D, Jacoby B, Pinzani M, Slack RJ. Galectin-3: therapeutic targeting in liver disease. Expert Opin Ther Targets. 2023;27:779\u201391.","journal-title":"Expert Opin Ther Targets"},{"key":"2452_CR49","doi-asserted-by":"publisher","first-page":"238","DOI":"10.1111\/ene.13496","volume":"25","author":"A Venkatraman","year":"2018","unstructured":"Venkatraman A, Hardas S, Patel N, Singh Bajaj N, Arora G, Arora P. Galectin-3: an emerging biomarker in stroke and cerebrovascular diseases. Eur J Neurol. 2018;25:238\u201346.","journal-title":"Eur J Neurol"},{"key":"2452_CR50","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1016\/j.cca.2014.01.019","volume":"431","author":"L Song","year":"2014","unstructured":"Song L, Tang J, Owusu L, Sun M-Z, Wu J, Zhang J. Galectin-3 in cancer. Clin Chim Acta. 2014;431:185\u201391.","journal-title":"Clin Chim Acta"},{"key":"2452_CR51","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1152\/physiolgenomics.90370.2008","volume":"37","author":"M Marotta","year":"2009","unstructured":"Marotta M, Ruiz-Roig C, Sarria Y, Peiro JL, Nu\u00f1ez F, Ceron J, et al. Muscle genome-wide expression profiling during disease evolution in mdx mice. Physiol Genom. 2009;37:119\u201332.","journal-title":"Physiol Genom"},{"key":"2452_CR52","doi-asserted-by":"publisher","first-page":"2287","DOI":"10.1242\/jcs.083311","volume":"124","author":"JA Doe","year":"2011","unstructured":"Doe JA, Wuebbles RD, Allred ET, Rooney JE, Elorza M, Burkin DJ. Transgenic overexpression of the \u03b17 integrin reduces muscle pathology and improves viability in the dyW mouse model of merosin-deficient congenital muscular dystrophy type 1A. J Cell Sci. 2011;124:2287\u201397.","journal-title":"J Cell Sci"},{"key":"2452_CR53","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1152\/physiolgenomics.00017.2007","volume":"32","author":"J-L Gonzalez de Aguilar","year":"2008","unstructured":"Gonzalez de Aguilar J-L, Niederhauser-Wiederkehr C, Halter B, De Tapia M, Di Scala F, Demougin P, et al. Gene profiling of skeletal muscle in an amyotrophic lateral sclerosis mouse model. Physiol Genom. 2008;32:207\u201318.","journal-title":"Physiol Genom"},{"key":"2452_CR54","doi-asserted-by":"publisher","first-page":"eadd9984","DOI":"10.1126\/sciadv.add9984","volume":"9","author":"G Coulis","year":"2023","unstructured":"Coulis G, Jaime D, Guerrero-Juarez C, Farahat PK, Nguyen Q, Pervolarakis N. et al. Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosis. Sci Adv. 2023;9:eadd9984.","journal-title":"Sci Adv"},{"key":"2452_CR55","doi-asserted-by":"publisher","first-page":"3047","DOI":"10.3390\/cells10113047","volume":"10","author":"LC Soares","year":"2021","unstructured":"Soares LC, Al-Dalahmah O, Hillis J, Young CC, Asbed I, Sakaguchi M, et al. Novel galectin-3 roles in neurogenesis, inflammation and neurological diseases. Cells. 2021;10:3047.","journal-title":"Cells"},{"key":"2452_CR56","doi-asserted-by":"publisher","first-page":"9232","DOI":"10.3390\/ijms21239232","volume":"21","author":"V Blanda","year":"2020","unstructured":"Blanda V, Bracale UM, Di Taranto MD, Fortunato G. Galectin-3 in cardiovascular diseases. Int J Mol Sci. 2020;21:9232.","journal-title":"Int J Mol Sci"},{"key":"2452_CR57","doi-asserted-by":"publisher","first-page":"1295","DOI":"10.1093\/glycob\/cwab071","volume":"31","author":"DG Cerri","year":"2021","unstructured":"Cerri DG, Rodrigues LC, Alves VM, Machado J, Bastos VAF, Carmo Kettelhut ID, et al. Endogenous galectin-3 is required for skeletal muscle repair. Glycobiology. 2021;31:1295\u2013307.","journal-title":"Glycobiology"},{"key":"2452_CR58","doi-asserted-by":"publisher","first-page":"fj201701151RRR","DOI":"10.1096\/fj.201701151RRR","volume":"32","author":"A Rancourt","year":"2018","unstructured":"Rancourt A, Dufresne SS, St-Pierre G, L\u00e9vesque J-C, Nakamura H, Kikuchi Y, et al. Galectin-3 and N-acetylglucosamine promote myogenesis and improve skeletal muscle function in the mdx model of Duchenne muscular dystrophy. FASEB J. 2018;32:fj201701151RRR.","journal-title":"FASEB J"},{"key":"2452_CR59","first-page":"4767","volume":"24","author":"B Li","year":"2010","unstructured":"Li B, Castano AP, Hudson TE, Nowlin BT, Lin S-L, Bonventre JV, et al. The melanoma-associated transmembrane glycoprotein Gpnmb controls trafficking of cellular debris for degradation and is essential for tissue repair. FASEB J. 2010;24:4767\u201381.","journal-title":"FASEB J"},{"key":"2452_CR60","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1016\/j.tips.2023.06.001","volume":"44","author":"S Bouffette","year":"2023","unstructured":"Bouffette S, Botez I, De Ceuninck F. Targeting galectin-3 in inflammatory and fibrotic diseases. Trends Pharmacol Sci. 2023;44:519\u201331.","journal-title":"Trends Pharmacol Sci"},{"key":"2452_CR61","doi-asserted-by":"publisher","first-page":"8116","DOI":"10.3390\/ijms24098116","volume":"24","author":"R Ahmed","year":"2023","unstructured":"Ahmed R, Anam K, Ahmed H. Development of galectin-3 targeting drugs for therapeutic applications in various diseases. Int J Mol Sci. 2023;24:8116.","journal-title":"Int J Mol Sci"},{"key":"2452_CR62","doi-asserted-by":"publisher","first-page":"421","DOI":"10.1016\/j.devcel.2011.07.016","volume":"21","author":"DL Medina","year":"2011","unstructured":"Medina DL, Fraldi A, Bouche V, Annunziata F, Mansueto G, Spampanato C, et al. Transcriptional activation of lysosomal exocytosis promotes cellular clearance. Dev Cell. 2011;21:421\u201330.","journal-title":"Dev Cell"},{"key":"2452_CR63","doi-asserted-by":"publisher","first-page":"691","DOI":"10.1002\/emmm.201202176","volume":"5","author":"C Spampanato","year":"2013","unstructured":"Spampanato C, Feeney E, Li L, Cardone M, Lim J, Annunziata F, et al. Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease. EMBO Mol Med. 2013;5:691\u2013706.","journal-title":"EMBO Mol Med"},{"key":"2452_CR64","doi-asserted-by":"publisher","DOI":"10.1038\/mtm.2016.54","volume":"3","author":"Y Sato","year":"2016","unstructured":"Sato Y, Kobayashi H, Higuchi T, Shimada Y, Ida H, Ohashi T. TFEB overexpression promotes glycogen clearance of Pompe disease iPSC-derived skeletal muscle. Mol Ther Methods Clin Dev. 2016;3:16054.","journal-title":"Mol Ther Methods Clin Dev"},{"key":"2452_CR65","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-017-15352-2","volume":"7","author":"F Gatto","year":"2017","unstructured":"Gatto F, Rossi B, Tarallo A, Polishchuk E, Polishchuk R, Carrella A, et al. AAV-mediated transcription factor EB (TFEB) gene delivery ameliorates muscle pathology and function in the murine model of Pompe Disease. Sci Rep. 2017;7:15089.","journal-title":"Sci Rep"},{"key":"2452_CR66","doi-asserted-by":"publisher","first-page":"e294","DOI":"10.1038\/tp.2013.71","volume":"3","author":"C Boissart","year":"2013","unstructured":"Boissart C, Poulet A, Georges P, Darville H, Julita E, Delorme R. et al. Differentiation from human pluripotent stem cells of cortical neurons of the superficial layers amenable to psychiatric disease modeling and high-throughput drug screening. Transl Psychiatry. 2013;3:e294","journal-title":"Transl Psychiatry"},{"key":"2452_CR67","doi-asserted-by":"publisher","first-page":"2171","DOI":"10.1016\/j.ajhg.2021.10.001","volume":"108","author":"S Pourtoy-Brasselet","year":"2021","unstructured":"Pourtoy-Brasselet S, Sciauvaud A, Boza-Moran M-G, Cailleret M, Jarrige M, Polv\u00e8che H, et al. Human iPSC-derived neurons reveal early developmental alteration of neurite outgrowth in the late-occurring neurodegenerative Wolfram syndrome. Am J Hum Genet. 2021;108:2171\u201385.","journal-title":"Am J Hum Genet"},{"key":"2452_CR68","doi-asserted-by":"publisher","first-page":"863","DOI":"10.1093\/bioinformatics\/btr026","volume":"27","author":"R Schmieder","year":"2011","unstructured":"Schmieder R, Edwards R. Quality control and preprocessing of metagenomic datasets. Bioinformatics. 2011;27:863\u20134.","journal-title":"Bioinformatics"},{"key":"2452_CR69","doi-asserted-by":"publisher","first-page":"10","DOI":"10.14806\/ej.17.1.200","volume":"17","author":"M Martin","year":"2011","unstructured":"Martin M. Cutadapt removes adapter sequences from high-throughput sequencing reads. EMBnet J. 2011;17:10\u201312.","journal-title":"EMBnet J"},{"key":"2452_CR70","doi-asserted-by":"publisher","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","volume":"29","author":"A Dobin","year":"2013","unstructured":"Dobin A, Davis CA, Schlesinger F, Drenkow J, Zaleski C, Jha S, et al. STAR: ultrafast universal RNA-seq aligner. Bioinformatics. 2013;29:15\u201321.","journal-title":"Bioinformatics"},{"key":"2452_CR71","doi-asserted-by":"publisher","DOI":"10.1093\/gigascience\/giab008","volume":"10","author":"P Danecek","year":"2021","unstructured":"Danecek P, Bonfield JK, Liddle J, Marshall J, Ohan V, Pollard MO, et al. Twelve years of SAMtools and BCFtools. GigaScience. 2021;10:giab008.","journal-title":"GigaScience"},{"key":"2452_CR72","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1093\/bioinformatics\/btu638","volume":"31","author":"S Anders","year":"2015","unstructured":"Anders S, Pyl PT, Huber W. HTSeq-a Python framework to work with high-throughput sequencing data. Bioinformatics. 2015;31:166\u20139.","journal-title":"Bioinformatics"},{"key":"2452_CR73","unstructured":"R: the R project for statistical computing. https:\/\/www.r-project.org\/. Accessed 17 July 2024."},{"key":"2452_CR74","doi-asserted-by":"publisher","DOI":"10.1186\/s13059-014-0550-8","volume":"15","author":"MI Love","year":"2014","unstructured":"Love MI, Huber W, Anders S. Moderated estimation of fold change and dispersion for RNA-seq data with DESeq2. Genome Biol. 2014;15:550.","journal-title":"Genome Biol"},{"key":"2452_CR75","unstructured":"Sievert C. Interactive web-based data visualization with R, plotly, and shiny. https:\/\/plotly-r.com\/. Accessed 16 July 2024."},{"key":"2452_CR76","doi-asserted-by":"publisher","DOI":"10.1002\/imt2.43","volume":"1","author":"Z Gu","year":"2022","unstructured":"Gu Z. Complex heatmap visualization. iMeta. 2022;1:e43.","journal-title":"iMeta"},{"key":"2452_CR77","doi-asserted-by":"publisher","first-page":"2847","DOI":"10.1093\/bioinformatics\/btw313","volume":"32","author":"Z Gu","year":"2016","unstructured":"Gu Z, Eils R, Schlesner M. Complex heatmaps reveal patterns and correlations in multidimensional genomic data. Bioinformatics. 2016;32:2847\u20139.","journal-title":"Bioinformatics"},{"key":"2452_CR78","doi-asserted-by":"publisher","first-page":"D638","DOI":"10.1093\/nar\/gkac1000","volume":"51","author":"D Szklarczyk","year":"2023","unstructured":"Szklarczyk D, Kirsch R, Koutrouli M, Nastou K, Mehryary F, Hachilif R, et al. The STRING database in 2023: protein-protein association networks and functional enrichment analyses for any sequenced genome of interest. Nucleic Acids Res. 2023;51:D638\u201346.","journal-title":"Nucleic Acids Res"},{"key":"2452_CR79","first-page":"100141","volume":"2","author":"T Wu","year":"2021","unstructured":"Wu T, Hu E, Xu S, Chen M, Guo P, Dai Z, et al. clusterProfiler 4.0: a universal enrichment tool for interpreting omics data. Innovation. 2021;2:100141.","journal-title":"Innovation"},{"key":"2452_CR80","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1089\/omi.2011.0118","volume":"16","author":"G Yu","year":"2012","unstructured":"Yu G, Wang L-G, Han Y, He Q-Y. clusterProfiler: an R package for comparing biological themes among gene clusters. OMICS. 2012;16:284\u20137.","journal-title":"OMICS"}],"container-title":["Cell Death Discovery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41420-025-02452-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41420-025-02452-6","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41420-025-02452-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,14]],"date-time":"2025-04-14T08:02:18Z","timestamp":1744617738000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41420-025-02452-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,4,14]]},"references-count":80,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12]]}},"alternative-id":["2452"],"URL":"https:\/\/doi.org\/10.1038\/s41420-025-02452-6","relation":{"has-preprint":[{"id-type":"doi","id":"10.21203\/rs.3.rs-5216196\/v1","asserted-by":"object"}]},"ISSN":["2058-7716"],"issn-type":[{"value":"2058-7716","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,4,14]]},"assertion":[{"value":"11 October 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"6 March 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 March 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"14 April 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests. GR is the author of patents related to the development of AAV gene therapy approaches for GSDIII.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"All methods were performed in accordance with the relevant guidelines and regulations. Human muscle biopsies were collected from patients and healthy donors after obtaining written informal consent, according to the French legislation and approved by the Comit\u00e9 de Protection des Personnes (approval number: Est IV DC-2012-1693). All animals were handled according to French and European guidelines on animal care and experimentation. All procedures on animals were approved by the local institutional ethical committee, Comit\u00e9 d\u2019\u00e9thique de Genopole en exp\u00e9rimentation animale (approval number: CEEA - 051 [Evry, France]).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}}],"article-number":"173"}}