{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,14]],"date-time":"2026-07-14T14:07:54Z","timestamp":1784038074123,"version":"3.55.0"},"reference-count":74,"publisher":"Oxford University Press (OUP)","issue":"21","license":[{"start":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:00:00Z","timestamp":1756425600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["B2B-RARE"],"award-info":[{"award-number":["B2B-RARE"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010275","name":"Deutsche Gesellschaft f\u00fcr Muskelkranke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100010275","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Queen Elizabeth II","award":["QE2-GSST"],"award-info":[{"award-number":["QE2-GSST"]}]},{"name":"Brain-Heart Interconnectome","award":["CFREF-2022-00007"],"award-info":[{"award-number":["CFREF-2022-00007"]}]},{"name":"Government of Canada, Canada First Research Excellence Fund"},{"DOI":"10.13039\/100015402","name":"Canada Research Coordinating Committee","doi-asserted-by":"publisher","award":["NFRFG-2022-00033"],"award-info":[{"award-number":["NFRFG-2022-00033"]}],"id":[{"id":"10.13039\/100015402","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","award":["101080249"],"award-info":[{"award-number":["101080249"]}],"id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001804","name":"Canada Research Chairs program","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001804","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000196","name":"Canada Foundation for Innovation","doi-asserted-by":"publisher","award":["CFI-JELF 38412"],"award-info":[{"award-number":["CFI-JELF 38412"]}],"id":[{"id":"10.13039\/501100000196","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Transnational Team","award":["ERT-174211"],"award-info":[{"award-number":["ERT-174211"]}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","award":["FDN-167281"],"award-info":[{"award-number":["FDN-167281"]}],"id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,10,14]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Congenital myasthenic syndromes (CMS) arise from mutations to proteins involved in neuromuscular junction (NMJ) development, maintenance, and neurotransmission. To date, mutations in more than 35 genes have been linked to CMS development. Glutamine fructose-6-phosphate transaminase 1 (GFPT1\/Gfpt1) serves as the rate-limiting enzyme of the hexosamine biosynthetic pathway (HBP), producing the byproduct (UDP-GlcNAc) necessary for protein glycosylation. Gfpt1-deficient models have impaired protein glycosylation, impacting key proteins at the NMJ. The Leloir pathway is a galactose metabolizing pathway which produces UDP-GalNAc as its final product. The enzyme UDP-GalNAc Epimerase (GALE) can also convert excess UDP-GalNAc into UDP-GlcNAc, the byproduct of the HBP. We hypothesized that treatment with galactose both in vitro and in vivo in Gfpt1-deficient models would rescue impaired protein O-GlcNAcylation and reverse the glycosylation status of key NMJ-associated proteins. We show that galactose treatment in vitro activated the Leloir pathway and rescued protein O-GlcNAcylation in Gfpt1-deficient C2C12 myoblasts. In addition, we demonstrated that galactose therapy rescued neuromuscular deficits, improved muscle fatigue and restored NMJ morphology in a skeletal muscle-specific Gfpt1 knockout mouse model. Lastly, we showed that galactose treatment rescued protein O-GlcNAcylation in skeletal muscle, preserving the glycosylation status of the delta (\u03b4) subunit of the acetylcholine receptor (AChR\u03b4). Taken together, we suggest that galactose supplementation can be further explored as a therapy for GFPT1-CMS patients.<\/jats:p>","DOI":"10.1093\/hmg\/ddaf140","type":"journal-article","created":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T12:33:02Z","timestamp":1756470782000},"page":"1765-1779","source":"Crossref","is-referenced-by-count":3,"title":["Galactose treatment rescues neuromuscular junction transmission in glutamine-fructose-6-phosphate transaminase 1 (Gfpt1) deficient mice"],"prefix":"10.1093","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0102-3912","authenticated-orcid":false,"given":"Stephen Henry","family":"Holland","sequence":"first","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, ON K1H 8L1 ,","place":["Canada"]},{"name":"Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa , 451 Smyth Road, Ottawa, ON K1H 8M5 ,","place":["Canada"]},{"name":"Eric Poulin Center for Neuromuscular Disease, Brain and Mind Research Institute, University of Ottawa , 451 Smyth Road, Ottawa, ON K1H 8M5 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-3234-2995","authenticated-orcid":false,"given":"Ricardo","family":"Carmona-Martinez","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, ON K1H 8L1 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9978-0101","authenticated-orcid":false,"given":"Daniel","family":"O\u2019Neil","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, ON K1H 8L1 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Ho","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, ON K1H 8L1 ,","place":["Canada"]},{"name":"Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa , 451 Smyth Road, Ottawa, ON K1H 8M5 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-5784-2619","authenticated-orcid":false,"given":"Kaela","family":"O\u2019Connor","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, ON K1H 8L1 ,","place":["Canada"]},{"name":"Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa , 451 Smyth Road, Ottawa, ON K1H 8M5 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5363-5638","authenticated-orcid":false,"given":"Yoshiteru","family":"Azuma","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, Graduate School of Medicine, Yokohama City University , Kanazawa-ku, Yokohama 236-0027,","place":["Japan"]},{"name":"Department of Pediatrics, Aichi Medical University , Nagakute, Aichi, 480-1195 ,","place":["Japan"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2833-0928","authenticated-orcid":false,"given":"Andreas","family":"Roos","sequence":"additional","affiliation":[{"name":"Eric Poulin Center for Neuromuscular Disease, Brain and Mind Research Institute, University of Ottawa , 451 Smyth Road, Ottawa, ON K1H 8M5 ,","place":["Canada"]},{"name":"Department of Pediatric Neurology, Center for Neuromuscular Disorders, University Duisburg-Essen , 45147 Essen ,","place":["Germany"]},{"name":"Department of Neurology, Medical Faculty and University Hospital D\u00fcsseldorf, Heinrich Heine University Dusseldorf , 40225 D\u00fcsseldorf ,","place":["Germany"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9579-3514","authenticated-orcid":false,"given":"Sally","family":"Spendiff","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, ON K1H 8L1 ,","place":["Canada"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2324-8001","authenticated-orcid":false,"given":"Hanns","family":"Lochm\u00fcller","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Eastern Ontario Research Institute , 401 Smyth Road, Ottawa, ON K1H 8L1 ,","place":["Canada"]},{"name":"Department of Cellular and Molecular Medicine, Faculty of Medicine, University of Ottawa , 451 Smyth Road, Ottawa, ON K1H 8M5 ,","place":["Canada"]},{"name":"Eric Poulin Center for Neuromuscular Disease, Brain and Mind Research Institute, University of Ottawa , 451 Smyth Road, Ottawa, ON K1H 8M5 ,","place":["Canada"]},{"name":"Division of Neurology, Department of Medicine, The Ottawa Hospital Civic Campus , 1053 Carling Avenue, Ottawa, ON K1Y 4E9 ,","place":["Canada"]},{"name":"Department of Neuropediatrics and Muscle Disorders , Medical Center \u2013 University of Freiburg, Faculty of Medicine, Mathildenstr, 179160, Freiburg,","place":["Germany"]},{"name":"Centro Nacional de An\u00e1lisis Gen\u00f3mico (CNAG) , 4, Barcelona Science Park - Tower I, Barcelona 08028 ,","place":["Spain"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,8,29]]},"reference":[{"key":"2025101608314094400_ref1","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1186\/s13023-019-1025-5","article-title":"Congenital myasthenic syndromes","volume":"14","author":"Finsterer","year":"2019","journal-title":"Orphanet J Rare Dis"},{"key":"2025101608314094400_ref2","doi-asserted-by":"crossref","first-page":"731","DOI":"10.3233\/JND-221646","article-title":"Presynaptic congenital myasthenic syndromes: understanding clinical phenotypes through In vivo models","volume":"10","author":"Pugliese","year":"2023","journal-title":"J Neuromuscul Dis"},{"key":"2025101608314094400_ref3","first-page":"69","volume-title":"Handbook of Clinical Neurology, Neurologic Channelopathies","author":"Beeson","year":"2024"},{"key":"2025101608314094400_ref4","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/j.nmd.2013.03.003","article-title":"Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1","volume":"23","author":"Basiri","year":"2013","journal-title":"Neuromuscul Disord"},{"key":"2025101608314094400_ref5","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1111\/j.1749-6632.2012.06790.x","article-title":"Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome","volume":"1275","author":"Belaya","year":"2012","journal-title":"Ann N Y Acad Sci"},{"key":"2025101608314094400_ref6","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/j.ajhg.2012.05.022","article-title":"Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates","volume":"91","author":"Belaya","year":"2012","journal-title":"Am J Hum Genet"},{"key":"2025101608314094400_ref7","doi-asserted-by":"crossref","first-page":"e12952","DOI":"10.1111\/nan.12952","article-title":"Pathogenic DPAGT1 variants in limb-girdle congenital myasthenic syndrome (LG-CMS) associated with tubular aggregates and ORAI1 hypoglycosylation","volume":"50","author":"Brande","year":"2024","journal-title":"Neuropathol Appl Neurobiol"},{"key":"2025101608314094400_ref8","doi-asserted-by":"crossref","first-page":"1119","DOI":"10.1136\/jnnp-2012-304716","article-title":"Clinical features of congenital myasthenic syndrome due to mutations in DPAGT1","volume":"84","author":"Finlayson","year":"2013","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025101608314094400_ref9","doi-asserted-by":"crossref","first-page":"2493","DOI":"10.1093\/brain\/awv185","article-title":"Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies","volume":"138","author":"Belaya","year":"2015","journal-title":"Brain"},{"key":"2025101608314094400_ref10","doi-asserted-by":"crossref","first-page":"802","DOI":"10.1136\/jnnp-2016-313163","article-title":"Clinical features of the myasthenic syndrome arising from mutations in GMPPB","volume":"87","author":"Rodr\u00edguez Cruz","year":"2016","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"2025101608314094400_ref11","doi-asserted-by":"crossref","first-page":"944","DOI":"10.1093\/brain\/awt010","article-title":"Congenital myasthenic syndromes due to mutations in ALG2 and ALG14","volume":"136","author":"Cossins","year":"2013","journal-title":"Brain"},{"key":"2025101608314094400_ref12","doi-asserted-by":"crossref","first-page":"80","DOI":"10.1016\/j.nmd.2021.11.012","article-title":"Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: a case report","volume":"32","author":"Ehrstedt","year":"2022","journal-title":"Neuromuscul Disord"},{"key":"2025101608314094400_ref13","doi-asserted-by":"crossref","first-page":"933","DOI":"10.3390\/genes14040933","article-title":"The hexosamine biosynthesis pathway: regulation and function","volume":"14","author":"Paneque","year":"2023","journal-title":"Genes"},{"key":"2025101608314094400_ref14","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1016\/j.ajhg.2011.01.008","article-title":"Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect","volume":"88","author":"Senderek","year":"2011","journal-title":"Am J Hum Genet"},{"key":"2025101608314094400_ref15","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.3390\/biom14101252","article-title":"A deficiency in glutamine-Fructose-6-phosphate transaminase 1 (Gfpt1) in skeletal muscle results in reduced glycosylation of the Delta subunit of the nicotinic acetylcholine receptor (AChR\u03b4)","volume":"14","author":"Holland","year":"2024","journal-title":"Biomolecules"},{"key":"2025101608314094400_ref16","doi-asserted-by":"crossref","first-page":"dmm.050768","DOI":"10.1242\/dmm.050768","article-title":"Muscle-specific lack of GFPT1 in knock-in mice triggers ER stress to alleviate misfolded proteins","volume":"17","author":"Zhang","year":"2024","journal-title":"Dis Model Mech"},{"key":"2025101608314094400_ref17","doi-asserted-by":"crossref","first-page":"3218","DOI":"10.1093\/hmg\/ddy225","article-title":"GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice","volume":"27","author":"Issop","year":"2018","journal-title":"Hum Mol Genet"},{"key":"2025101608314094400_ref18","doi-asserted-by":"crossref","first-page":"2905","DOI":"10.1093\/hmg\/ddt145","article-title":"Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in reduced cell-surface expression of muscle AChR","volume":"22","author":"Zoltowska","year":"2013","journal-title":"Hum Mol Genet"},{"key":"2025101608314094400_ref19","doi-asserted-by":"crossref","first-page":"3418","DOI":"10.1093\/hmg\/ddv090","article-title":"A 3\u2019-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome","volume":"24","author":"Dusl","year":"2015","journal-title":"Hum Mol Genet"},{"key":"2025101608314094400_ref20","doi-asserted-by":"crossref","first-page":"926786","DOI":"10.3389\/fneur.2022.926786","article-title":"Abnormal decrement on high-frequency repetitive nerve stimulation in congenital myasthenic syndrome with GFPT1 mutations and review of literature","volume":"13","author":"An","year":"2022","journal-title":"Front Neurol"},{"key":"2025101608314094400_ref21","doi-asserted-by":"crossref","first-page":"107746","DOI":"10.1016\/j.isci.2023.107746","article-title":"Splicing regulation of GFPT1 muscle-specific isoform and its roles in glucose metabolisms and neuromuscular junction","volume":"26","author":"Farshadyeganeh","year":"2023","journal-title":"iScience"},{"key":"2025101608314094400_ref22","first-page":"3485","article-title":"Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles","volume":"42","author":"Ma","year":"2021","journal-title":"Neurol Sci Off J Ital Neurol Soc Ital Soc Clin Neurophysiol"},{"key":"2025101608314094400_ref23","doi-asserted-by":"crossref","first-page":"e2469","DOI":"10.1002\/brb3.2469","article-title":"Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation","volume":"12","author":"Jiang","year":"2022","journal-title":"Brain Behav"},{"key":"2025101608314094400_ref24","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1007\/s13760-024-02694-8","article-title":"Phenotypic variability in congenital myasthenic syndrome with GFPT1 mutation","volume":"125","author":"Vallepu","year":"2024","journal-title":"Acta Neurol Belg"},{"key":"2025101608314094400_ref25","doi-asserted-by":"crossref","first-page":"1791","DOI":"10.1007\/s00415-017-8569-x","article-title":"Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy","volume":"264","author":"Bauch\u00e9","year":"2017","journal-title":"J Neurol"},{"key":"2025101608314094400_ref26","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1042\/ETLS20180100","article-title":"Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome","volume":"3","author":"Thompson","year":"2019","journal-title":"Emerg Top Life Sci"},{"key":"2025101608314094400_ref27","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1016\/j.nmd.2022.09.002","article-title":"The effectiveness and side effects of pyridostigmine in the treatment of myasthenia gravis: a cross-sectional study","volume":"32","author":"Remijn-Nelissen","year":"2022","journal-title":"Neuromuscul Disord"},{"key":"2025101608314094400_ref28","doi-asserted-by":"crossref","first-page":"268","DOI":"10.1038\/s41436-019-0647-2","article-title":"Therapeutic approaches in congenital disorders of glycosylation (CDG) involving N-linked glycosylation: an update","volume":"22","author":"Verheijen","year":"2020","journal-title":"Genet Med"},{"key":"2025101608314094400_ref29","doi-asserted-by":"crossref","first-page":"1375","DOI":"10.1210\/jc.2016-3443","article-title":"Galactose supplementation in patients with TMEM165-CDG rescues the glycosylation defects","volume":"102","author":"Morelle","year":"2017","journal-title":"J Clin Endocrinol Metab"},{"key":"2025101608314094400_ref30","first-page":"1102","article-title":"Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG","volume":"22","author":"Witters","year":"2020","journal-title":"Genet Med Off J Am Coll Med Genet"},{"key":"2025101608314094400_ref31","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1002\/jimd.12286","article-title":"International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): diagnosis, follow-up, and management","volume":"44","author":"Altassan","year":"2021","journal-title":"J Inherit Metab Dis"},{"key":"2025101608314094400_ref32","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1038\/gim.2017.106","article-title":"SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy","volume":"20","author":"Park","year":"2018","journal-title":"Genet Med"},{"key":"2025101608314094400_ref33","doi-asserted-by":"crossref","DOI":"10.1098\/rsob.160240","article-title":"NMJ-morph reveals principal components of synaptic morphology influencing structure\u2013function relationships at the neuromuscular junction","volume":"6","author":"Jones","year":"2016","journal-title":"Open Biol"},{"key":"2025101608314094400_ref34","doi-asserted-by":"crossref","first-page":"200128","DOI":"10.1098\/rsos.200128","article-title":"aNMJ-morph: a simple macro for rapid analysis of neuromuscular junction morphology","volume":"7","author":"Minty","year":"2020","journal-title":"R Soc Open Sci"},{"key":"2025101608314094400_ref35","doi-asserted-by":"crossref","first-page":"e468","DOI":"10.1212\/NXG.0000000000000468","article-title":"Congenital myasthenic syndrome caused by a frameshift insertion mutation in GFPT1","volume":"6","author":"Szelinger","year":"2020","journal-title":"Neurol Genet"},{"key":"2025101608314094400_ref36","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1186\/s12915-019-0671-3","article-title":"Fueling the fire: emerging role of the hexosamine biosynthetic pathway in cancer","volume":"17","author":"Akella","year":"2019","journal-title":"BMC Biol"},{"key":"2025101608314094400_ref37","doi-asserted-by":"crossref","first-page":"463","DOI":"10.1016\/j.molmed.2022.04.003","article-title":"Nutrition interventions in congenital disorders of glycosylation","volume":"28","author":"Boyer","year":"2022","journal-title":"Trends Mol Med"},{"key":"2025101608314094400_ref38","doi-asserted-by":"crossref","first-page":"1489","DOI":"10.1093\/hmg\/ddw026","article-title":"Glycosylation abnormalities in Gdt1p\/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis","volume":"25","author":"Potelle","year":"2016","journal-title":"Hum Mol Genet"},{"key":"2025101608314094400_ref39","doi-asserted-by":"crossref","first-page":"129898","DOI":"10.1016\/j.bbagen.2021.129898","article-title":"Galactose in human metabolism, glycosylation and congenital metabolic diseases: time for a closer look","volume":"1865","author":"Conte","year":"2021","journal-title":"Biochim Biophys Acta BBA - Gen Subj"},{"key":"2025101608314094400_ref40","doi-asserted-by":"crossref","first-page":"E672","DOI":"10.1152\/ajpendo.00127.2022","article-title":"Postexercise muscle glycogen synthesis with glucose, galactose, and combined galactose-glucose ingestion","volume":"325","author":"Podlogar","year":"2023","journal-title":"Am J Physiol - Endocrinol Metab"},{"key":"2025101608314094400_ref41","doi-asserted-by":"crossref","first-page":"2017","DOI":"10.1016\/j.bbagen.2016.06.011","article-title":"O-GlcNAcylation is a key modulator of skeletal muscle sarcomeric morphometry associated to modulation of protein\u2013protein interactions","volume":"1860","author":"Lambert","year":"2016","journal-title":"Biochim Biophys Acta BBA - Gen Subj"},{"key":"2025101608314094400_ref42","doi-asserted-by":"crossref","first-page":"2758","DOI":"10.3390\/biom5042758","article-title":"Global N-linked glycosylation is not significantly impaired in myoblasts in congenital myasthenic syndromes caused by defective glutamine-Fructose-6-phosphate transaminase 1 (GFPT1)","volume":"5","author":"Chen","year":"2015","journal-title":"Biomolecules"},{"key":"2025101608314094400_ref43","doi-asserted-by":"crossref","first-page":"20513","DOI":"10.1074\/jbc.274.29.20513","article-title":"Altered glycosylation sites of the \u03b4 subunit of the acetylcholine receptor (AChR) reduce \u03b1\u03b4 association and receptor assembly *","volume":"274","author":"Ramanathan","year":"1999","journal-title":"J Biol Chem"},{"key":"2025101608314094400_ref44","doi-asserted-by":"crossref","first-page":"48","DOI":"10.3389\/fnmol.2020.00048","article-title":"The MX-helix of muscle nAChR subunits regulates receptor assembly and surface trafficking","volume":"13","author":"Rudell","year":"2020","journal-title":"Front Mol Neurosci"},{"key":"2025101608314094400_ref45","doi-asserted-by":"crossref","first-page":"33800","DOI":"10.1074\/jbc.M501813200","article-title":"N-linked glycosylation is required for nicotinic receptor assembly but not for subunit associations with calnexin *","volume":"280","author":"Wanamaker","year":"2005","journal-title":"J Biol Chem"},{"key":"2025101608314094400_ref46","doi-asserted-by":"crossref","first-page":"2784","DOI":"10.1093\/brain\/awl188","article-title":"CHRND mutation causes a congenital myasthenic syndrome by impairing co-clustering of the acetylcholine receptor with rapsyn","volume":"129","author":"M\u00fcller","year":"2006","journal-title":"Brain"},{"key":"2025101608314094400_ref47","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1038\/s41419-019-2034-y","article-title":"Enhanced hexosamine metabolism drives metabolic and signaling networks involving hyaluronan production and O-GlcNAcylation to exacerbate breast cancer","volume":"10","author":"Chokchaitaweesuk","year":"2019","journal-title":"Cell Death Dis"},{"key":"2025101608314094400_ref48","doi-asserted-by":"crossref","first-page":"9831","DOI":"10.1038\/s41598-022-14033-z","article-title":"Global O-GlcNAcylation changes impact desmin phosphorylation and its partition toward cytoskeleton in C2C12 skeletal muscle cells differentiated into myotubes","volume":"12","author":"Claeyssen","year":"2022","journal-title":"Sci Rep"},{"key":"2025101608314094400_ref49","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1146\/annurev-biochem-060608-102511","article-title":"Cross talk between O-GlcNAcylation and phosphorylation: roles in Signaling, transcription, and chronic disease","volume":"80","author":"Hart","year":"2011","journal-title":"Annu Rev Biochem"},{"key":"2025101608314094400_ref50","doi-asserted-by":"crossref","first-page":"cwaf005","DOI":"10.1093\/glycob\/cwaf005","article-title":"A reference dataset of O-GlcNAc proteins in quadriceps skeletal muscle from mice","volume":"35","author":"Jaiswal","year":"2025","journal-title":"Glycobiology"},{"key":"2025101608314094400_ref51","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1016\/j.mito.2022.04.007","article-title":"Regulation of mitochondrial network homeostasis by O-GlcNAcylation","volume":"65","author":"Xue","year":"2022","journal-title":"Mitochondrion"},{"key":"2025101608314094400_ref52","doi-asserted-by":"crossref","first-page":"8505","DOI":"10.3390\/ijms24108505","article-title":"Mitochondrial mutations can Alter neuromuscular transmission in congenital myasthenic syndrome and mitochondrial disease","volume":"24","author":"O\u2019Connor","year":"2023","journal-title":"Int J Mol Sci"},{"key":"2025101608314094400_ref53","doi-asserted-by":"crossref","DOI":"10.1016\/j.neulet.2020.135163","article-title":"Regulation of gene expression at the neuromuscular junction","volume":"735","author":"Belotti","year":"2020","journal-title":"Neurosci Lett"},{"key":"2025101608314094400_ref54","doi-asserted-by":"crossref","first-page":"438","DOI":"10.1038\/nature11348","article-title":"Lrp4 is a retrograde signal for presynaptic differentiation at neuromuscular synapses","volume":"489","author":"Yumoto","year":"2012","journal-title":"Nature"},{"key":"2025101608314094400_ref55","doi-asserted-by":"crossref","first-page":"3569","DOI":"10.1038\/ncomms4569","article-title":"Morphological and functional remodelling of the neuromuscular junction by skeletal muscle PGC-1\u03b1","volume":"5","author":"Arnold","year":"2014","journal-title":"Nat Commun"},{"key":"2025101608314094400_ref56","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1186\/s40478-020-00909-6","article-title":"Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy","volume":"8","author":"Rossor","year":"2020","journal-title":"Acta Neuropathol Commun"},{"key":"2025101608314094400_ref57","doi-asserted-by":"crossref","first-page":"2339","DOI":"10.1093\/hmg\/ddz059","article-title":"Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome","volume":"28","author":"McMacken","year":"2019","journal-title":"Hum Mol Genet"},{"key":"2025101608314094400_ref58","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1038\/s41586-021-03672-3","article-title":"Mechanism of disease and therapeutic rescue of Dok7 congenital myasthenia","volume":"595","author":"Oury","year":"2021","journal-title":"Nature"},{"key":"2025101608314094400_ref59","doi-asserted-by":"crossref","first-page":"e49180","DOI":"10.7554\/eLife.49180","article-title":"A mechanism in agrin signaling revealed by a prevalent rapsyn mutation in congenital myasthenic syndrome","volume":"8","author":"Xing","journal-title":"eLife"},{"key":"2025101608314094400_ref60","doi-asserted-by":"crossref","first-page":"3577","DOI":"10.1093\/hmg\/ddn251","article-title":"A mouse model for congenital myasthenic syndrome due to MuSK mutations reveals defects in structure and function of neuromuscular junctions","volume":"17","author":"Chevessier","year":"2008","journal-title":"Hum Mol Genet"},{"key":"2025101608314094400_ref61","doi-asserted-by":"crossref","first-page":"594220","DOI":"10.3389\/fnmol.2020.594220","article-title":"Modulation of the acetylcholine receptor clustering pathway improves neuromuscular junction structure and muscle strength in a mouse model of congenital myasthenic syndrome","volume":"13","author":"Spendiff","year":"2020","journal-title":"Front Mol Neurosci"},{"key":"2025101608314094400_ref62","doi-asserted-by":"crossref","first-page":"4617","DOI":"10.1093\/hmg\/ddr396","article-title":"A valid mouse model of AGRIN-associated congenital myasthenic syndrome","volume":"20","author":"Bogdanik","year":"2011","journal-title":"Hum Mol Genet"},{"key":"2025101608314094400_ref63","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1016\/j.neuroscience.2019.05.017","article-title":"\u201cFragmentation\u201d of NMJs: a sign of degeneration or regeneration? A long journey with many junctions","volume":"439","author":"Slater","year":"2020","journal-title":"Neuroscience"},{"key":"2025101608314094400_ref64","doi-asserted-by":"crossref","DOI":"10.1038\/srep24849","article-title":"Age-related fragmentation of the motor endplate is not associated with impaired neuromuscular transmission in the mouse diaphragm","volume":"6","author":"Willadt","year":"2016","journal-title":"Sci Rep"},{"key":"2025101608314094400_ref65","doi-asserted-by":"crossref","first-page":"8037","DOI":"10.1007\/s11033-022-07334-z","article-title":"The role of protein glycosylation in muscle diseases","volume":"49","author":"Dang","year":"2022","journal-title":"Mol Biol Rep"},{"key":"2025101608314094400_ref66","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1186\/s43556-021-00027-2","article-title":"GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB","volume":"2","author":"Liu","year":"2021","journal-title":"Mol Biomed"},{"key":"2025101608314094400_ref67","doi-asserted-by":"crossref","first-page":"4175","DOI":"10.1091\/mbc.e12-05-0411","article-title":"A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency","volume":"23","author":"Cline","year":"2012","journal-title":"Mol Biol Cell"},{"key":"2025101608314094400_ref68","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1186\/s12887-024-04769-0","article-title":"A case report of classic galactosemia with a GALT gene variant and a literature review","volume":"24","author":"Wang","year":"2024","journal-title":"BMC Pediatr"},{"key":"2025101608314094400_ref69","doi-asserted-by":"crossref","first-page":"22106","DOI":"10.1038\/s41598-021-01512-y","article-title":"Blocked O-GlcNAc cycling alters mitochondrial morphology, function, and mass","volume":"11","author":"Akinbiyi","year":"2021","journal-title":"Sci Rep"},{"key":"2025101608314094400_ref70","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1016\/j.biopha.2016.12.011","article-title":"The effect of d-galactose induced oxidative stress on in vitro redox homeostasis in rat plasma and erythrocytes","volume":"86","author":"Delwing-de Lima","year":"2017","journal-title":"Biomed Pharmacother"},{"key":"2025101608314094400_ref71","doi-asserted-by":"crossref","first-page":"161","DOI":"10.3390\/cimb47030161","article-title":"Chronic oral D-galactose induces oxidative stress but not overt organ dysfunction in male Wistar rats","volume":"47","author":"Martinovic","year":"2025","journal-title":"Curr Issues Mol Biol"},{"key":"2025101608314094400_ref72","doi-asserted-by":"crossref","DOI":"10.3389\/fmolb.2024.1303379","article-title":"Diosgenin alleviates D-galactose-induced oxidative stress in rats\u2019 brain and liver targeting aging and apoptotic marker genes","volume":"11","author":"El-Far","year":"2024","journal-title":"Front Mol Biosci"},{"key":"2025101608314094400_ref73","doi-asserted-by":"crossref","first-page":"6708","DOI":"10.4081\/ejtm.2017.6708","article-title":"Morphological peculiarities of neuromuscular junctions among different fiber types: effect of exercise","volume":"27","author":"Seene","year":"2017","journal-title":"Eur J Transl Myol"},{"key":"2025101608314094400_ref74","doi-asserted-by":"crossref","first-page":"603","DOI":"10.1111\/joa.13228","article-title":"Morphological variability is greater at developing than mature mouse neuromuscular junctions","volume":"237","author":"Mech","year":"2020","journal-title":"J Anat"}],"container-title":["Human Molecular Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/34\/21\/1765\/64161054\/ddaf140.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/hmg\/article-pdf\/34\/21\/1765\/64161054\/ddaf140.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,16]],"date-time":"2025-10-16T12:50:51Z","timestamp":1760619051000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/hmg\/article\/34\/21\/1765\/8243953"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,8,29]]},"references-count":74,"journal-issue":{"issue":"21","published-online":{"date-parts":[[2025,8,29]]},"published-print":{"date-parts":[[2025,10,14]]}},"URL":"https:\/\/doi.org\/10.1093\/hmg\/ddaf140","relation":{},"ISSN":["0964-6906","1460-2083"],"issn-type":[{"value":"0964-6906","type":"print"},{"value":"1460-2083","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,11,1]]},"published":{"date-parts":[[2025,8,29]]}}}