{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T00:07:24Z","timestamp":1792282044014,"version":"4.4.0"},"reference-count":83,"publisher":"Springer Science and Business Media LLC","issue":"8048","license":[{"start":{"date-parts":[[2024,12,11]],"date-time":"2024-12-11T00:00:00Z","timestamp":1733875200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,12,11]],"date-time":"2024-12-11T00:00:00Z","timestamp":1733875200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nature"],"published-print":{"date-parts":[[2025,1,30]]},"DOI":"10.1038\/s41586-024-08310-2","type":"journal-article","created":{"date-parts":[[2024,12,11]],"date-time":"2024-12-11T23:53:33Z","timestamp":1733961213000},"page":"1252-1260","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":43,"title":["Structure and assembly of the dystrophin glycoprotein complex"],"prefix":"10.1038","volume":"637","author":[{"given":"Li","family":"Wan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-9626-7061","authenticated-orcid":false,"given":"Xiaofei","family":"Ge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qikui","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaoxingyu","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiandi","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2066-5889","authenticated-orcid":false,"given":"Kevin P.","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1999-8451","authenticated-orcid":false,"given":"Zhen","family":"Yan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9869-7691","authenticated-orcid":false,"given":"Jianping","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,12,11]]},"reference":[{"key":"8310_CR1","doi-asserted-by":"publisher","first-page":"259","DOI":"10.1038\/338259a0","volume":"338","author":"KP Campbell","year":"1989","unstructured":"Campbell, K. P. & Kahl, S. D. Association of dystrophin and an integral membrane glycoprotein. Nature 338, 259\u2013262 (1989).","journal-title":"Nature"},{"key":"8310_CR2","doi-asserted-by":"publisher","first-page":"696","DOI":"10.1038\/355696a0","volume":"355","author":"O Ibraghimov-Beskrovnaya","year":"1992","unstructured":"Ibraghimov-Beskrovnaya, O. et al. Primary structure of dystrophin-associated glycoproteins linking dystrophin to the extracellular matrix. Nature 355, 696\u2013702 (1992).","journal-title":"Nature"},{"key":"8310_CR3","doi-asserted-by":"publisher","first-page":"809","DOI":"10.1083\/jcb.122.4.809","volume":"122","author":"JM Ervasti","year":"1993","unstructured":"Ervasti, J. M. & Campbell, K. P. A role for the dystrophin-glycoprotein complex as a transmembrane linker between laminin and actin. J. Cell Biol. 122, 809\u2013823 (1993).","journal-title":"J. Cell Biol."},{"key":"8310_CR4","doi-asserted-by":"publisher","first-page":"87","DOI":"10.1146\/annurev.pathol.2.010506.091936","volume":"2","author":"EM McNally","year":"2007","unstructured":"McNally, E. M. & Pytel, P. Muscle diseases: the muscular dystrophies. Annu. Rev. Pathol. 2, 87\u2013109 (2007).","journal-title":"Annu. Rev. Pathol."},{"key":"8310_CR5","doi-asserted-by":"publisher","first-page":"13","DOI":"10.1038\/s41572-021-00248-3","volume":"7","author":"D,S Duan","year":"2021","unstructured":"Duan, D, S., Goemans, N., Takeda, S., Mercuri, E. & Aartsma-Rus, A. Duchenne muscular dystrophy. Nat. Rev. Dis. Primers 7, 13 (2021).","journal-title":"Nat. Rev. Dis. Primers"},{"key":"8310_CR6","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1016\/S0959-437X(02)00309-X","volume":"12","author":"M Durbeej","year":"2002","unstructured":"Durbeej, M. & Campbell, K. P. Muscular dystrophies involving the dystrophin-glycoprotein complex: an overview of current mouse models. Curr. Opin. Genet. Dev. 12, 349\u2013361 (2002).","journal-title":"Curr. Opin. Genet. Dev."},{"key":"8310_CR7","doi-asserted-by":"publisher","first-page":"1022","DOI":"10.1038\/s42003-022-03980-y","volume":"5","author":"DGS Wilson","year":"2022","unstructured":"Wilson, D. G. S., Tinker, A. & Iskratsch, T. The role of the dystrophin glycoprotein complex in muscle cell mechanotransduction. Commun. Biol. 5, 1022 (2022).","journal-title":"Commun. Biol."},{"key":"8310_CR8","doi-asserted-by":"publisher","first-page":"1223","DOI":"10.1002\/cphy.c140048","volume":"5","author":"QQ Gao","year":"2015","unstructured":"Gao, Q. Q. & McNally, E. M. The dystrophin complex: structure, function, and implications for therapy. Compr. Physiol. 5, 1223\u20131239 (2015).","journal-title":"Compr. Physiol."},{"key":"8310_CR9","volume":"2011","author":"JD Gumerson","year":"2011","unstructured":"Gumerson, J. D. & Michele, D. E. The dystrophin-glycoprotein complex in the prevention of muscle damage. J. Biomed. Biotechnol. 2011, 210797 (2011).","journal-title":"J. Biomed. Biotechnol."},{"key":"8310_CR10","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1161\/01.RES.0000126574.61061.25","volume":"94","author":"KA Lapidos","year":"2004","unstructured":"Lapidos, K. A., Kakkar, R. & McNally, E. M. The dystrophin glycoprotein complex: signaling strength and integrity for the sarcolemma. Circ. Res. 94, 1023\u20131031 (2004).","journal-title":"Circ. Res."},{"key":"8310_CR11","doi-asserted-by":"publisher","DOI":"10.1016\/j.neulet.2020.134833","volume":"722","author":"DC Belhasan","year":"2020","unstructured":"Belhasan, D. C. & Akaaboune, M. The role of the dystrophin glycoprotein complex on the neuromuscular system. Neurosci. Lett. 722, 134833 (2020).","journal-title":"Neurosci. Lett."},{"key":"8310_CR12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1007\/s12035-009-8089-5","volume":"41","author":"GSK Pilgram","year":"2010","unstructured":"Pilgram, G. S. K., Potikanond, S., Baines, R. A., Fradkin, L. G. & Noordermeer, J. N. The roles of the dystrophin-associated glycoprotein complex at the synapse. Mol. Neurobiol. 41, 1\u201321 (2010).","journal-title":"Mol. Neurobiol."},{"key":"8310_CR13","doi-asserted-by":"publisher","first-page":"635","DOI":"10.1016\/j.bbamem.2013.08.023","volume":"1838","author":"B Constantin","year":"2014","unstructured":"Constantin, B. Dystrophin complex functions as a scaffold for signalling proteins. Boichim. Biophys. Acta 1838, 635\u2013642 (2014).","journal-title":"Boichim. Biophys. Acta"},{"key":"8310_CR14","doi-asserted-by":"publisher","first-page":"919","DOI":"10.1016\/0092-8674(87)90579-4","volume":"51","author":"EP Hoffman","year":"1987","unstructured":"Hoffman, E. P., Brown, R. H. & Kunkel, L. M. Dystrophin\u2014the protein product of the Duchenne muscular-dystrophy locus. Cell 51, 919\u2013928 (1987).","journal-title":"Cell"},{"key":"8310_CR15","doi-asserted-by":"publisher","first-page":"219","DOI":"10.1016\/0092-8674(88)90383-2","volume":"53","author":"M Koenig","year":"1988","unstructured":"Koenig, M., Monaco, A. P. & Kunkel, L. M. The complete sequence of dystrophin predicts a rod-shaped cytoskeletal protein. Cell 53, 219\u2013228 (1988).","journal-title":"Cell"},{"key":"8310_CR16","doi-asserted-by":"publisher","first-page":"1209","DOI":"10.1083\/jcb.150.5.1209","volume":"150","author":"IN Rybakova","year":"2000","unstructured":"Rybakova, I. N., Patel, J. R. & Ervasti, J. M. The dystrophin complex forms a mechanically strong link between the sarcolemma and costameric actin. J. Cell Biol. 150, 1209\u20131214 (2000).","journal-title":"J. Cell Biol."},{"key":"8310_CR17","doi-asserted-by":"publisher","first-page":"5142","DOI":"10.1002\/jcp.25982","volume":"233","author":"HF Bhat","year":"2018","unstructured":"Bhat, H. F. et al. ABC of multifaceted dystrophin glycoprotein complex (DGC). J. Cell. Physiol. 233, 5142\u20135159 (2018).","journal-title":"J. Cell. Physiol."},{"key":"8310_CR18","doi-asserted-by":"publisher","first-page":"25956","DOI":"10.1074\/jbc.270.43.25956","volume":"270","author":"KA Deyst","year":"1995","unstructured":"Deyst, K. A., Bowe, M. A., Leszyk, J. D. & Fallon, J. R. The \u03b1-dystroglycan-\u03b2-dystroglycan complex. Membrane organization and relationship to an agrin receptor. J. Biol. Chem. 270, 25956\u201325959 (1995).","journal-title":"J. Biol. Chem."},{"key":"8310_CR19","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1016\/S0014-5793(00)01195-9","volume":"468","author":"KH Holt","year":"2000","unstructured":"Holt, K. H., Crosbie, R. H., Venzke, D. P. & Campbell, K. P. Biosynthesis of dystroglycan: processing of a precursor propeptide. FEBS Lett. 468, 79\u201383 (2000).","journal-title":"FEBS Lett."},{"key":"8310_CR20","doi-asserted-by":"publisher","first-page":"55R","DOI":"10.1093\/glycob\/cwg076","volume":"13","author":"PT Martin","year":"2003","unstructured":"Martin, P. T. Dystroglycan glycosylation and its role in matrix binding in skeletal muscle. Glycobiology 13, 55R\u201366R (2003).","journal-title":"Glycobiology"},{"key":"8310_CR21","doi-asserted-by":"publisher","first-page":"4590","DOI":"10.1046\/j.1432-1327.2001.02386.x","volume":"268","author":"F Sciandra","year":"2001","unstructured":"Sciandra, F. et al. Identification of the \u03b2-dystroglycan binding epitope within the C-terminal region of \u03b1-dystroglycan. Eur. J. Biochem. 268, 4590\u20134597 (2001).","journal-title":"Eur. J. Biochem."},{"key":"8310_CR22","doi-asserted-by":"publisher","first-page":"31221","DOI":"10.1074\/jbc.272.50.31221","volume":"272","author":"RH Crosbie","year":"1997","unstructured":"Crosbie, R. H., Heighway, J., Venzke, D. P., Lee, J. C. & Campbell, K. P. Sarcospan, the 25-kDa transmembrane component of the dystrophin-glycoprotein complex. J. Biol. Chem. 272, 31221\u201331224 (1997).","journal-title":"J. Biol. Chem."},{"key":"8310_CR23","doi-asserted-by":"publisher","first-page":"723","DOI":"10.1016\/j.pcl.2015.03.008","volume":"62","author":"N Wein","year":"2015","unstructured":"Wein, N., Alfano, L. & Flanigan, K. M. Genetics and emerging treatments for Duchenne and Becker muscular dystrophy. Pediatr. Clin. North. Am. 62, 723\u2013742 (2015).","journal-title":"Pediatr. Clin. North. Am."},{"key":"8310_CR24","doi-asserted-by":"publisher","first-page":"482","DOI":"10.1016\/j.nmd.2014.03.008","volume":"24","author":"JK Mah","year":"2014","unstructured":"Mah, J. K. et al. A systematic review and meta-analysis on the epidemiology of Duchenne and Becker muscular dystrophy. Neuromuscular Disord 24, 482\u2013491 (2014).","journal-title":"Neuromuscular Disord"},{"key":"8310_CR25","first-page":"1","volume":"33","author":"V Nigro","year":"2014","unstructured":"Nigro, V. & Savarese, M. Genetic basis of limb-girdle muscular dystrophies: the 2014 update. Acta Myol 33, 1\u201312 (2014).","journal-title":"Acta Myol"},{"key":"8310_CR26","doi-asserted-by":"publisher","first-page":"727","DOI":"10.1016\/S0002-9440(10)63160-4","volume":"164","author":"SC Brown","year":"2004","unstructured":"Brown, S. C. et al. Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. Am. J. Pathol. 164, 727\u2013737 (2004).","journal-title":"Am. J. Pathol."},{"key":"8310_CR27","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1038\/nature00837","volume":"418","author":"DE Michele","year":"2002","unstructured":"Michele, D. E. et al. Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418, 417\u2013422 (2002).","journal-title":"Nature"},{"key":"8310_CR28","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1242\/jcs.02814","volume":"119","author":"R Barresi","year":"2006","unstructured":"Barresi, R. & Campbell, K. P. Dystroglycan: from biosynthesis to pathogenesis of human disease. J. Cell Sci. 119, 199\u2013207 (2006).","journal-title":"J. Cell Sci."},{"key":"8310_CR29","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1016\/j.tins.2012.04.004","volume":"35","author":"A Waite","year":"2012","unstructured":"Waite, A., Brown, S. C. & Blake, D. J. The dystrophin-glycoprotein complex in brain development and disease. Trends Neurosci. 35, 487\u2013496 (2012).","journal-title":"Trends Neurosci."},{"key":"8310_CR30","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1172\/JCI9224","volume":"106","author":"S Tsubata","year":"2000","unstructured":"Tsubata, S. et al. Mutations in the human \u03b4-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. J. Clin. Invest. 106, 655\u2013662 (2000).","journal-title":"J. Clin. Invest."},{"key":"8310_CR31","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1146\/annurev-genom-090314-025003","volume":"16","author":"S Guiraud","year":"2015","unstructured":"Guiraud, S. et al. The pathogenesis and therapy of muscular dystrophies. Annu. Rev. Genomics Hum. Genet. 16, 281\u2013308 (2015).","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"key":"8310_CR32","doi-asserted-by":"publisher","first-page":"481","DOI":"10.1016\/S0969-2126(00)00132-5","volume":"8","author":"FLM Norwood","year":"2000","unstructured":"Norwood, F. L. M., Sutherland-Smith, A. J., Keep, N. H. & Kendrick-Jones, J. The structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy. Structure 8, 481\u2013491 (2000).","journal-title":"Structure"},{"key":"8310_CR33","doi-asserted-by":"publisher","first-page":"e40066","DOI":"10.1371\/journal.pone.0040066","volume":"7","author":"M Muthu","year":"2012","unstructured":"Muthu, M., Richardson, K. A. & Sutherland-Smith, A. J. The crystal structures of dystrophin and utrophin spectrin repeats: implications for domain boundaries. PLoS ONE 7, e40066 (2012).","journal-title":"PLoS ONE"},{"key":"8310_CR34","doi-asserted-by":"publisher","first-page":"634","DOI":"10.1038\/77923","volume":"7","author":"X Huang","year":"2000","unstructured":"Huang, X. et al. Structure of a WW domain containing fragment of dystrophin in complex with \u03b2-dystroglycan. Nat. Struct. Biol. 7, 634\u2013638 (2000).","journal-title":"Nat. Struct. Biol."},{"key":"8310_CR35","doi-asserted-by":"publisher","first-page":"44812","DOI":"10.1074\/jbc.C400353200","volume":"279","author":"D Bozic","year":"2004","unstructured":"Bozic, D., Sciandra, F., Lamba, D. & Brancaccio, A. The structure of the N-terminal region of murine skeletal muscle \u03b1-dystroglycan discloses a modular architecture. J. Biol. Chem. 279, 44812\u201344816 (2004).","journal-title":"J. Biol. Chem."},{"key":"8310_CR36","doi-asserted-by":"publisher","first-page":"810","DOI":"10.1038\/nchembio.2146","volume":"12","author":"DC Briggs","year":"2016","unstructured":"Briggs, D. C. et al. Structural basis of laminin binding to the LARGE glycans on dystroglycan. Nat. Chem. Biol. 12, 810\u2013814 (2016).","journal-title":"Nat. Chem. Biol."},{"key":"8310_CR37","doi-asserted-by":"publisher","first-page":"1195","DOI":"10.1113\/jphysiol.2010.201921","volume":"589","author":"KS Ramaswamy","year":"2011","unstructured":"Ramaswamy, K. S. et al. Lateral transmission of force is impaired in skeletal muscles of dystrophic mice and very old rats. J. Physiol. 589, 1195\u20131208 (2011).","journal-title":"J. Physiol."},{"key":"8310_CR38","doi-asserted-by":"publisher","first-page":"6152","DOI":"10.1158\/0008-5472.CAN-04-1638","volume":"64","author":"J Singh","year":"2004","unstructured":"Singh, J. et al. Proteolytic enzymes and altered glycosylation modulate dystroglycan function in carcinoma cells. Cancer Res. 64, 6152\u20136159 (2004).","journal-title":"Cancer Res."},{"key":"8310_CR39","doi-asserted-by":"publisher","first-page":"27305","DOI":"10.1074\/jbc.270.45.27305","volume":"270","author":"D Jung","year":"1995","unstructured":"Jung, D., Yang, B., Meyer, J., Chamberlain, J. S. & Campbell, K. P. Identification and characterization of the dystrophin anchoring site on beta-dystroglycan. J. Biol. Chem. 270, 27305\u201327310 (1995).","journal-title":"J. Biol. Chem."},{"key":"8310_CR40","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1016\/S0014-5793(97)00454-7","volume":"410","author":"YM Chan","year":"1997","unstructured":"Chan, Y. M. & Kunkel, L. M. In vitro expressed dystrophin fragments do not associate with each other. FEBS Lett. 410, 153\u2013159 (1997).","journal-title":"FEBS Lett."},{"key":"8310_CR41","doi-asserted-by":"publisher","first-page":"12413","DOI":"10.1073\/pnas.94.23.12413","volume":"94","author":"HM SadouletPuccio","year":"1997","unstructured":"SadouletPuccio, H. M., Rajala, M. & Kunkel, L. M. Dystrobrevin and dystrophin: An interaction through coiled-coil motifs. Proc. Natl Acad. Sci. USA 94, 12413\u201312418 (1997).","journal-title":"Proc. Natl Acad. Sci. USA"},{"key":"8310_CR42","doi-asserted-by":"publisher","first-page":"6697","DOI":"10.1093\/hmg\/ddu388","volume":"23","author":"K Swiderski","year":"2014","unstructured":"Swiderski, K. et al. Phosphorylation within the cysteine-rich region of dystrophin enhances its association with \u03b2-dystroglycan and identifies a potential novel therapeutic target for skeletal muscle wasting. Hum. Mol. Genet. 23, 6697\u20136711 (2014).","journal-title":"Hum. Mol. Genet."},{"key":"8310_CR43","doi-asserted-by":"publisher","first-page":"625","DOI":"10.1016\/S0898-6568(01)00188-7","volume":"13","author":"JL Ilsley","year":"2001","unstructured":"Ilsley, J. L., Sudol, M. & Winder, S. J. The interaction of dystrophin with \u03b2-dystroglycan is regulated by tyrosine phosphorylation. Cell Signal 13, 625\u2013632 (2001).","journal-title":"Cell Signal"},{"key":"8310_CR44","doi-asserted-by":"publisher","first-page":"4185","DOI":"10.1038\/s41467-024-48686-3","volume":"15","author":"X Ge","year":"2024","unstructured":"Ge, X. & Wang, J. W. Structural mechanism of bacteriophage lambda tail\u2019s interaction with the bacterial receptor. Nat. Commun. 15, 4185 (2024).","journal-title":"Nat. Commun."},{"key":"8310_CR45","doi-asserted-by":"publisher","first-page":"673","DOI":"10.1016\/S0092-8674(02)00971-6","volume":"110","author":"RO Hynes","year":"2002","unstructured":"Hynes, R. O. Integrins: bidirectional, allosteric signaling machines. Cell 110, 673\u2013687 (2002).","journal-title":"Cell"},{"key":"8310_CR46","doi-asserted-by":"publisher","first-page":"619","DOI":"10.1146\/annurev.immunol.25.022106.141618","volume":"25","author":"BH Luo","year":"2007","unstructured":"Luo, B. H., Carman, C. V. & Springer, T. A. Structural basis of integrin regulation and signaling. Annu. Rev. Immunol. 25, 619\u2013647 (2007).","journal-title":"Annu. Rev. Immunol."},{"key":"8310_CR47","doi-asserted-by":"publisher","first-page":"989","DOI":"10.1093\/hmg\/ddl018","volume":"15","author":"C Guo","year":"2006","unstructured":"Guo, C. et al. Absence of \u03b17 integrin in dystrophin-deficient mice causes a myopathy similar to Duchenne muscular dystrophy. Hum. Mol. Genet. 15, 989\u2013998 (2006).","journal-title":"Hum. Mol. Genet."},{"key":"8310_CR48","doi-asserted-by":"publisher","first-page":"2185","DOI":"10.1242\/jcs.02952","volume":"119","author":"JE Rooney","year":"2006","unstructured":"Rooney, J. E. et al. Severe muscular dystrophy in mice that lack dystrophin and \u03b17 integrin. J. Cell Sci. 119, 2185\u20132195 (2006).","journal-title":"J. Cell Sci."},{"key":"8310_CR49","doi-asserted-by":"publisher","first-page":"2873","DOI":"10.1242\/jcs.110.22.2873","volume":"110","author":"BL Hodges","year":"1997","unstructured":"Hodges, B. L. et al. Altered expression of the \u03b17\u03b21 integrin in human and murine muscular dystrophies. J. Cell Sci. 110, 2873\u20132881 (1997).","journal-title":"J. Cell Sci."},{"key":"8310_CR50","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/2044-5040-3-1","volume":"3","author":"JL Marshall","year":"2013","unstructured":"Marshall, J. L. & Crosbie-Watson, R. H. Sarcospan: a small protein with large potential for Duchenne muscular dystrophy. Skelet. Muscle 3, 1 (2013).","journal-title":"Skelet. Muscle"},{"key":"8310_CR51","doi-asserted-by":"publisher","first-page":"50","DOI":"10.1038\/nature14063","volume":"517","author":"Z Yan","year":"2015","unstructured":"Yan, Z. et al. Structure of the rabbit ryanodine receptor RyR1 at near-atomic resolution. Nature 517, 50\u201355 (2015).","journal-title":"Nature"},{"key":"8310_CR52","doi-asserted-by":"publisher","first-page":"640","DOI":"10.1016\/j.pediatrneurol.2013.12.024","volume":"50","author":"G Diniz","year":"2014","unstructured":"Diniz, G. et al. Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene. Pediatr. Neurol. 50, 640\u2013647 (2014).","journal-title":"Pediatr. Neurol."},{"key":"8310_CR53","doi-asserted-by":"publisher","first-page":"618","DOI":"10.1056\/NEJM199702273360904","volume":"336","author":"DJ Duggan","year":"1997","unstructured":"Duggan, D. J. et al. Mutations in the sarcoglycan genes in patients with myopathy. New Engl. J. Med. 336, 618\u2013624 (1997).","journal-title":"New Engl. J. Med."},{"key":"8310_CR54","doi-asserted-by":"publisher","first-page":"243","DOI":"10.1038\/ng0695-243","volume":"10","author":"F Piccolo","year":"1995","unstructured":"Piccolo, F. et al. Primary adhalinopathy\u2014a common-cause of autosomal recessive muscular-dystrophy of variable severity. Nat. Genet. 10, 243\u2013245 (1995).","journal-title":"Nat. Genet."},{"key":"8310_CR55","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1136\/jmg.34.6.470","volume":"34","author":"A Carrie","year":"1997","unstructured":"Carrie, A. et al. Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D). J. Med. Genet. 34, 470\u2013475 (1997).","journal-title":"J. Med. Genet."},{"key":"8310_CR56","doi-asserted-by":"publisher","first-page":"929","DOI":"10.1152\/physiolgenomics.00036.2018","volume":"50","author":"M Saha","year":"2018","unstructured":"Saha, M. et al. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiol. Genomics 50, 929\u2013939 (2018).","journal-title":"Physiol. Genomics"},{"key":"8310_CR57","doi-asserted-by":"publisher","first-page":"1202","DOI":"10.1172\/JCI118152","volume":"96","author":"H Kawai","year":"1995","unstructured":"Kawai, H. et al. Adhalin gene mutations in patients with autosomal recessive childhood onset muscular dystrophy with adhalin deficiency. J. Clin. Invest. 96, 1202\u20131207 (1995).","journal-title":"J. Clin. Invest."},{"key":"8310_CR58","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1016\/S0960-8966(97)00135-1","volume":"8","author":"F Duclos","year":"1998","unstructured":"Duclos, F. et al. \u03b2-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate. Neuromusc. Disord. 8, 30\u201338 (1998).","journal-title":"Neuromusc. Disord."},{"key":"8310_CR59","first-page":"214","volume":"12","author":"MR dos Santos","year":"1998","unstructured":"dos Santos, M. R., Jorge, P., Ribeiro, E. M., Pires, M. M. & Guimaraes, A. Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Hum. Mutat. 12, 214\u2013215 (1998).","journal-title":"Hum. Mutat."},{"key":"8310_CR60","doi-asserted-by":"publisher","first-page":"1953","DOI":"10.1093\/hmg\/5.12.1953","volume":"5","author":"CG Bonnemann","year":"1996","unstructured":"Bonnemann, C. G. et al. Genomic screening for beta-sarcoglycan gene mutations: Missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). Hum. Mol. Genet. 5, 1953\u20131961 (1996).","journal-title":"Hum. Mol. Genet."},{"key":"8310_CR61","doi-asserted-by":"publisher","first-page":"193","DOI":"10.1016\/S0960-8966(98)00014-5","volume":"8","author":"CG B\u00f6nnemann","year":"1998","unstructured":"B\u00f6nnemann, C. G. et al. LGMD 2E in Tunisia is caused by a homozygous missense mutation in \u03b2-sarcoglycan exon 3. Neuromusc. Disord. 8, 193\u2013197 (1998).","journal-title":"Neuromusc. Disord."},{"key":"8310_CR62","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1016\/j.pediatrneurol.2003.11.006","volume":"30","author":"S Vermeer","year":"2004","unstructured":"Vermeer, S. et al. Novel mutations in three patients with LGMD2C with phenotypic differences. Pediatr. Neurol. 30, 291\u2013294 (2004).","journal-title":"Pediatr. Neurol."},{"key":"8310_CR63","doi-asserted-by":"publisher","first-page":"100","DOI":"10.1016\/S0960-8966(99)00063-2","volume":"10","author":"KJ Nowak","year":"2000","unstructured":"Nowak, K. J. et al. Severe \u03b3-sarcoglycanopathy caused by a novel missense mutation and a large deletion. Neuromusc. Disord. 10, 100\u2013107 (2000).","journal-title":"Neuromusc. Disord."},{"key":"8310_CR64","doi-asserted-by":"publisher","first-page":"2019","DOI":"10.1093\/hmg\/9.13.2019","volume":"9","author":"RH Crosbie","year":"2000","unstructured":"Crosbie, R. H. et al. Molecular and genetic characterization of sarcospan:: insights into sarcoglycan\u2013sarcospan interactions. Hum. Mol. Genet. 9, 2019\u20132027 (2000).","journal-title":"Hum. Mol. Genet."},{"key":"8310_CR65","doi-asserted-by":"publisher","first-page":"2019","DOI":"10.1093\/hmg\/5.12.2019","volume":"5","author":"F Piccolo","year":"1996","unstructured":"Piccolo, F. et al. A founder mutation in the \u03b3-sarcoglycan gene of Gypsies possibly predating their migration out of India. Hum. Mol. Genet. 5, 2019\u20132022 (1996).","journal-title":"Hum. Mol. Genet."},{"key":"8310_CR66","doi-asserted-by":"publisher","first-page":"49","DOI":"10.1007\/s100480050008","volume":"1","author":"DJ Duggan","year":"1997","unstructured":"Duggan, D. J. et al. Mutations in the \u03b4-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). Neurogenetics 1, 49\u201358 (1997).","journal-title":"Neurogenetics"},{"key":"8310_CR67","doi-asserted-by":"publisher","first-page":"1179","DOI":"10.1093\/hmg\/5.8.1179","volume":"5","author":"V Nigro","year":"1996","unstructured":"Nigro, V. et al. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum. Mol. Genet. 5, 1179\u20131186 (1996).","journal-title":"Hum. Mol. Genet."},{"key":"8310_CR68","doi-asserted-by":"publisher","first-page":"951","DOI":"10.1136\/jmg.35.11.951","volume":"35","author":"ES Moreira","year":"1998","unstructured":"Moreira, E. S. et al. A first missense mutation in the \u03b4 sarcoglycan gene associated with a severe phenotype and frequency of limb-girdle muscular dystrophy type 2 F (LGMD2F) in Brazilian sarcoglycanopathies. J. Med. Genet. 35, 951\u2013953 (1998).","journal-title":"J. Med. Genet."},{"key":"8310_CR69","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1007\/s10048-013-0374-9","volume":"14","author":"T Geis","year":"2013","unstructured":"Geis, T. et al. Homozygous dystroglycan mutation associated with a novel muscle-eye-brain disease-like phenotype with multicystic leucodystrophy. Neurogenetics 14, 205\u2013213 (2013).","journal-title":"Neurogenetics"},{"key":"8310_CR70","doi-asserted-by":"publisher","first-page":"811","DOI":"10.1111\/jcmm.13979","volume":"23","author":"Y Dai","year":"2019","unstructured":"Dai, Y. et al. Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy. J. Cell. Mol. Med. 23, 811\u2013818 (2019).","journal-title":"J. Cell. Mol. Med."},{"key":"8310_CR71","doi-asserted-by":"publisher","first-page":"119","DOI":"10.1016\/S1096-7192(02)00153-1","volume":"77","author":"J Feng","year":"2002","unstructured":"Feng, J., Yan, J., Buzin, C. H., Towbin, J. A. & Sommer, S. S. Mutations in the dystrophin gene are associated with sporadic dilated cardiomyopathy. Mol. Genet. Metab. 77, 119\u2013126 (2002).","journal-title":"Mol. Genet. Metab."},{"key":"8310_CR72","doi-asserted-by":"publisher","first-page":"931","DOI":"10.1086\/374176","volume":"72","author":"KM Flanigan","year":"2003","unstructured":"Flanigan, K. M. et al. Rapid direct sequence analysis of the dystrophin gene. Am. J. Hum. Genet. 72, 931\u2013939 (2003).","journal-title":"Am. J. Hum. Genet."},{"key":"8310_CR73","doi-asserted-by":"publisher","first-page":"257","DOI":"10.1002\/humu.22479","volume":"35","author":"A Vulin","year":"2014","unstructured":"Vulin, A. et al. The ZZ domain of dystrophin in DMD: making sense of missense mutations. Hum. Mutat. 35, 257\u2013264 (2014).","journal-title":"Hum. Mutat."},{"key":"8310_CR74","doi-asserted-by":"publisher","first-page":"971","DOI":"10.1002\/ana.410440619","volume":"44","author":"LR Goldberg","year":"1998","unstructured":"Goldberg, L. R. et al. A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype. Ann. Neurol. 44, 971\u2013976 (1998).","journal-title":"Ann. Neurol."},{"key":"8310_CR75","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1093\/hmg\/5.7.973","volume":"5","author":"U Lenk","year":"1996","unstructured":"Lenk, U. et al. A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-wave. Hum. Mol. Genet. 5, 973\u2013975 (1996).","journal-title":"Hum. Mol. Genet."},{"key":"8310_CR76","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1038\/nmeth.4193","volume":"14","author":"SQ Zheng","year":"2017","unstructured":"Zheng, S. Q. et al. MotionCor2: anisotropic correction of beam-induced motion for improved cryo-electron microscopy. Nat. Methods 14, 331\u2013332 (2017).","journal-title":"Nat. Methods"},{"key":"8310_CR77","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1038\/nmeth.4169","volume":"14","author":"A Punjani","year":"2017","unstructured":"Punjani, A., Rubinstein, J. L., Fleet, D. J. & Brubaker, M. A. cryoSPARC: algorithms for rapid unsupervised cryo-EM structure determination. Nat. Methods 14, 290\u2013296 (2017).","journal-title":"Nat. Methods"},{"key":"8310_CR78","doi-asserted-by":"publisher","first-page":"1214","DOI":"10.1038\/s41592-020-00990-8","volume":"17","author":"A Punjani","year":"2020","unstructured":"Punjani, A., Zhang, H. & Fleet, D. J. Non-uniform refinement: adaptive regularization improves single-particle cryo-EM reconstruction. Nat. Methods 17, 1214\u20131221 (2020).","journal-title":"Nat. Methods"},{"key":"8310_CR79","doi-asserted-by":"publisher","first-page":"1605","DOI":"10.1002\/jcc.20084","volume":"25","author":"EF Pettersen","year":"2004","unstructured":"Pettersen, E. F. et al. UCSF chimera\u2014a visualization system for exploratory research and analysis. J. Comput. Chem. 25, 1605\u20131612 (2004).","journal-title":"J. Comput. Chem."},{"key":"8310_CR80","doi-asserted-by":"publisher","first-page":"70","DOI":"10.1002\/pro.3943","volume":"30","author":"EF Pettersen","year":"2021","unstructured":"Pettersen, E. F. et al. UCSF ChimeraX: structure visualization for researchers, educators, and developers. Protein Sci. 30, 70\u201382 (2021).","journal-title":"Protein Sci."},{"key":"8310_CR81","doi-asserted-by":"publisher","first-page":"583","DOI":"10.1038\/s41586-021-03819-2","volume":"596","author":"J Jumper","year":"2021","unstructured":"Jumper, J. et al. Highly accurate protein structure prediction with AlphaFold. Nature 596, 583\u2013589 (2021).","journal-title":"Nature"},{"key":"8310_CR82","doi-asserted-by":"publisher","first-page":"2126","DOI":"10.1107\/S0907444904019158","volume":"60","author":"P Emsley","year":"2004","unstructured":"Emsley, P. & Cowtan, K. Coot: model-building tools for molecular graphics. Acta Crystallogr. D 60, 2126\u20132132 (2004).","journal-title":"Acta Crystallogr. D"},{"key":"8310_CR83","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1107\/S2059798318006551","volume":"74","author":"PV Afonine","year":"2018","unstructured":"Afonine, P. V. et al. Real-space refinement in PHENIX for cryo-EM and crystallography. Acta Crystallogr. D 74, 531\u2013544 (2018).","journal-title":"Acta Crystallogr. D"}],"container-title":["Nature"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/s41586-024-08310-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41586-024-08310-2","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/s41586-024-08310-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,1,29]],"date-time":"2025-01-29T23:47:34Z","timestamp":1738194454000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/s41586-024-08310-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12,11]]},"references-count":83,"journal-issue":{"issue":"8048","published-print":{"date-parts":[[2025,1,30]]}},"alternative-id":["8310"],"URL":"https:\/\/doi.org\/10.1038\/s41586-024-08310-2","relation":{},"ISSN":["0028-0836","1476-4687"],"issn-type":[{"value":"0028-0836","type":"print"},{"value":"1476-4687","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,12,11]]},"assertion":[{"value":"13 June 2024","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 October 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"11 December 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}