{"PubmedArticle":{"MedlineCitation":{"@attributes":{"Status":"MEDLINE","Owner":"NLM","IndexingMethod":"Automated"},"PMID":{"@attributes":{"Version":"1"},"@text":"39760982"},"DateCompleted":{"Year":"2025","Month":"04","Day":"29"},"DateRevised":{"Year":"2025","Month":"05","Day":"20"},"Article":{"@attributes":{"PubModel":"Print-Electronic"},"Journal":{"ISSN":{"@attributes":{"IssnType":"Electronic"},"@text":"1559-1182"},"JournalIssue":{"@attributes":{"CitedMedium":"Internet"},"Volume":"62","Issue":"5","PubDate":{"Year":"2025","Month":"May"}},"Title":"Molecular neurobiology","ISOAbbreviation":"Mol Neurobiol"},"ArticleTitle":"Characterization of Dystrophin Dp71 Expression and Interaction Partners in Embryonic Brain Development: Implications for Duchenne\/Becker Muscular Dystrophy.","Pagination":{"StartPage":"6256","EndPage":"6272","MedlinePgn":"6256-6272"},"ELocationID":[{"@attributes":{"EIdType":"doi","ValidYN":"Y"},"@text":"10.1007\/s12035-024-04676-6"}],"Abstract":{"AbstractText":["Duchenne\/Becker muscular dystrophy (DMD\/BMD) manifests progressive muscular dystrophy and non-progressive central nervous disorder. The neural disorder is possibly caused by abnormalities in the developmental period; however, basic research to understand the mechanisms remains underdeveloped. The responsible gene, Dmd (dystrophin), generates multiple products derived from several gene promoters. Here, we aim to characterize the expression of the shortest product, Dp71, during embryonic brain development and to identify its interaction proteins by using Dp71-specific tag-insertion mice. We showed that Dp71 and Dp140 were major dystrophin products significantly detectable in the mouse embryonic brains and Dp71 was the only dystrophin product derived from intron-62 gene promoter in the physiological mouse brains. Although both Dp71f (exon 78-exclusive form) and Dp71d (exon 78-inclusive form) existed in the embryonic brains, Dp71f and Dp71d were dominant forms in the prenatal and postnatal periods, respectively. We histologically found that Dp71 was prominently expressed in the neuroepithelium of the dorsal and medial telencephalon, which gives rise to the primordial cerebral cortex and hippocampus. Deeper analysis using in vitro primary culture verified Dp71 expressions in Nestin-positive neural stem\/progenitor, Fabp7-positive radial glia, and Gfap-positive astrocytic cell populations. Interestingly, Dp71 was downregulated upon neuronal differentiation from stem\/progenitor cells into TuJ1-positive immature neurons; however, Dp71 became detectable at Gephyrin-positive inhibitory postsynapses within mature neurons. Importantly, interactome analysis revealed dystroglycan, dystrobrevins, and syntrophins as dominant Dp71-partners in the embryonic neural stem\/progenitor cells. Thus, the presence of Dp71-dystroglycan macromolecular complex was clearly established at an early stage of embryonic brain development, which sheds light on relations between fetal abnormalities and intellectual disabilities in DMD\/BMD."],"CopyrightInformation":"\u00a9 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature."},"AuthorList":{"@attributes":{"CompleteYN":"Y"},"Author":[{"@attributes":{"ValidYN":"Y"},"LastName":"Fujimoto","ForeName":"Takahiro","Initials":"T","AffiliationInfo":[{"Affiliation":"Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-Cho, Kawaramachi Hirokoji, Kamigyo-Ku, Kyoto, 602-8566, Japan. tfuji@koto.kpu-m.ac.jp."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Mori","ForeName":"Miyuki","Initials":"M","AffiliationInfo":[{"Affiliation":"Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-Cho, Kawaramachi Hirokoji, Kamigyo-Ku, Kyoto, 602-8566, Japan."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Tonosaki","ForeName":"Madoka","Initials":"M","AffiliationInfo":[{"Affiliation":"Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-Cho, Kawaramachi Hirokoji, Kamigyo-Ku, Kyoto, 602-8566, Japan."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Yaoi","ForeName":"Takeshi","Initials":"T","AffiliationInfo":[{"Affiliation":"Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-Cho, Kawaramachi Hirokoji, Kamigyo-Ku, Kyoto, 602-8566, Japan."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Nakano","ForeName":"Kenta","Initials":"K","AffiliationInfo":[{"Affiliation":"Department of Laboratory Animal Medicine, Research Institute, National Center for Global Health and Medicine (NCGM), Tokyo, 162-8655, Japan."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Okamura","ForeName":"Tadashi","Initials":"T","AffiliationInfo":[{"Affiliation":"Department of Laboratory Animal Medicine, Research Institute, National Center for Global Health and Medicine (NCGM), Tokyo, 162-8655, Japan."}]},{"@attributes":{"ValidYN":"Y"},"LastName":"Itoh","ForeName":"Kyoko","Initials":"K","AffiliationInfo":[{"Affiliation":"Department of Pathology and Applied Neurobiology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-Cho, Kawaramachi Hirokoji, Kamigyo-Ku, Kyoto, 602-8566, Japan."}]}]},"Language":["eng"],"GrantList":{"@attributes":{"CompleteYN":"Y"},"Grant":[{"GrantID":"18K07883","Agency":"Grants-in-Aid for Scientific Research (Kakenhi)","Country":""},{"GrantID":"(5-7)","Agency":"Intramural Research Grant for Neurological and Psychiatric Disorders of NCNP","Country":""},{"GrantID":"20A1019","Agency":"Grants-in-Aid for Research from the National Center for Global Health and Medicine","Country":""}]},"PublicationTypeList":{"PublicationType":[{"@attributes":{"UI":"D016428"},"@text":"Journal Article"}]},"ArticleDate":[{"@attributes":{"DateType":"Electronic"},"Year":"2025","Month":"01","Day":"06"}]},"MedlineJournalInfo":{"Country":"United States","MedlineTA":"Mol Neurobiol","NlmUniqueID":"8900963","ISSNLinking":"0893-7648"},"ChemicalList":{"Chemical":[{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"D016189"},"@text":"Dystrophin"}},{"RegistryNumber":"0","NameOfSubstance":{"@attributes":{"UI":"C085339"},"@text":"apo-dystrophin 1"}}]},"CitationSubset":["IM"],"MeshHeadingList":{"MeshHeading":[{"DescriptorName":{"@attributes":{"UI":"D000818","MajorTopicYN":"N"},"@text":"Animals"}},{"DescriptorName":{"@attributes":{"UI":"D016189","MajorTopicYN":"Y"},"@text":"Dystrophin"},"QualifierName":[{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"},{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"}]},{"DescriptorName":{"@attributes":{"UI":"D001921","MajorTopicYN":"Y"},"@text":"Brain"},"QualifierName":[{"@attributes":{"UI":"Q000196","MajorTopicYN":"N"},"@text":"embryology"},{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"}]},{"DescriptorName":{"@attributes":{"UI":"D020388","MajorTopicYN":"Y"},"@text":"Muscular Dystrophy, Duchenne"},"QualifierName":[{"@attributes":{"UI":"Q000378","MajorTopicYN":"N"},"@text":"metabolism"},{"@attributes":{"UI":"Q000235","MajorTopicYN":"N"},"@text":"genetics"},{"@attributes":{"UI":"Q000196","MajorTopicYN":"N"},"@text":"embryology"},{"@attributes":{"UI":"Q000473","MajorTopicYN":"N"},"@text":"pathology"}]},{"DescriptorName":{"@attributes":{"UI":"D051379","MajorTopicYN":"N"},"@text":"Mice"}},{"DescriptorName":{"@attributes":{"UI":"D018507","MajorTopicYN":"N"},"@text":"Gene Expression Regulation, Developmental"}},{"DescriptorName":{"@attributes":{"UI":"D008810","MajorTopicYN":"N"},"@text":"Mice, Inbred C57BL"}}]},"KeywordList":[{"@attributes":{"Owner":"NOTNLM"},"Keyword":[{"@attributes":{"MajorTopicYN":"N"},"@text":"Brain development,"},{"@attributes":{"MajorTopicYN":"N"},"@text":"Dp71,"},{"@attributes":{"MajorTopicYN":"N"},"@text":"Duchenne muscular dystrophy"},{"@attributes":{"MajorTopicYN":"N"},"@text":"Dystrophin,"},{"@attributes":{"MajorTopicYN":"N"},"@text":"Neural stem cells,"}]}],"CoiStatement":"Declarations. Ethics Approval and Consent to Participate: All animal experiments were approved by the President of Kyoto Prefectural University of Medicine and the National Center for Global Health and Medicine following consideration by the Institutional Animal Care and Use Committee of each institute (approval ID: M2020-241\u20131, M2021-268, M2022-254, M2023-546, M2024-223 and 18037) and were carried out in accordance with institutional procedures, national guidelines, and the relevant national laws on the protection of animals. The welfare of animals was considered during experiments. Consent for Publication: Not applicable. Conflict of Interest: The authors declare no competing interests."},"PubmedData":{"History":{"PubMedPubDate":[{"@attributes":{"PubStatus":"received"},"Year":"2024","Month":"6","Day":"8"},{"@attributes":{"PubStatus":"accepted"},"Year":"2024","Month":"12","Day":"17"},{"@attributes":{"PubStatus":"medline"},"Year":"2025","Month":"3","Day":"28","Hour":"18","Minute":"25"},{"@attributes":{"PubStatus":"pubmed"},"Year":"2025","Month":"1","Day":"6","Hour":"12","Minute":"23"},{"@attributes":{"PubStatus":"entrez"},"Year":"2025","Month":"1","Day":"6","Hour":"11","Minute":"17"}]},"PublicationStatus":"ppublish","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"pubmed"},"@text":"39760982"},{"@attributes":{"IdType":"doi"},"@text":"10.1007\/s12035-024-04676-6"},{"@attributes":{"IdType":"pii"},"@text":"10.1007\/s12035-024-04676-6"}]},"ReferenceList":[{"Reference":[{"Citation":"Anderson JL, Head SI, Rae C, Morley JW (2002) Brain function in Duchenne muscular dystrophy. Brain 125(Pt 1):4\u201313. https:\/\/doi.org\/10.1093\/brain\/awf012","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1093\/brain\/awf012"},{"@attributes":{"IdType":"pubmed"},"@text":"11834588"}]}},{"Citation":"Blake DJ, Kr\u00f6ger S (2000) The neurobiology of Duchenne muscular dystrophy: learning lessons from muscle? Trends Neurosci 23(3):92\u201399. https:\/\/doi.org\/10.1083\/jcb.147.3.645","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1083\/jcb.147.3.645"},{"@attributes":{"IdType":"pubmed"},"@text":"10675908"}]}},{"Citation":"De Stefano ME, Ferretti V, Mozzetta C (2022) Synaptic alterations as a neurodevelopmental trait of Duchenne muscular dystrophy. Neurobiol Dis 168:105718. https:\/\/doi.org\/10.1016\/j.nbd.2022.105718","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1016\/j.nbd.2022.105718"},{"@attributes":{"IdType":"pubmed"},"@text":"35390481"}]}},{"Citation":"Naidoo M, Anthony K (2020) Dystrophin Dp71 and the neuropathophysiology of Duchenne muscular dystrophy. Mol Neurobiol 57(3):1748\u20131767. https:\/\/doi.org\/10.1007\/s12035-019-01845-w","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1007\/s12035-019-01845-w"},{"@attributes":{"IdType":"pubmed"},"@text":"31836945"}]}},{"Citation":"Waite A, Brown SC, Blake DJ (2012) The dystrophin-glycoprotein complex in brain development and disease. Trends Neurosci 35(8):487\u2013496. https:\/\/doi.org\/10.1016\/j.tins.2012.04.004","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1016\/j.tins.2012.04.004"},{"@attributes":{"IdType":"pubmed"},"@text":"22626542"}]}},{"Citation":"Ciptasari U, van Bokhoven H (2020) The phenomenal epigenome in neurodevelopmental disorders. Hum Mol Genet 29(R1):R42\u2013R50. https:\/\/doi.org\/10.1093\/hmg\/ddaa175","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1093\/hmg\/ddaa175"},{"@attributes":{"IdType":"pubmed"},"@text":"32766754"},{"@attributes":{"IdType":"pmc"},"@text":"7530535"}]}},{"Citation":"Cristino AS, Williams SM, Hawi Z, An JY, Bellgrove MA, Schwartz CE, Costa Lda F, Claudianos C (2014) Neurodevelopmental and neuropsychiatric disorders represent an interconnected molecular system. Mol Psychiatry 19(3):294\u2013301. https:\/\/doi.org\/10.1038\/mp.2013.16","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1038\/mp.2013.16"},{"@attributes":{"IdType":"pubmed"},"@text":"23439483"}]}},{"Citation":"Hormozdiari F, Penn O, Borenstein E, Eichler EE (2015) The discovery of integrated gene networks for autism and related disorders. Genome Res 25(1):142\u2013154. https:\/\/doi.org\/10.1101\/gr.178855.114","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1101\/gr.178855.114"},{"@attributes":{"IdType":"pubmed"},"@text":"25378250"},{"@attributes":{"IdType":"pmc"},"@text":"4317170"}]}},{"Citation":"Vissers LE, Gilissen C, Veltman JA (2016) Genetic studies in intellectual disability and related disorders. Nat Rev Genet 17(1):9\u201318. https:\/\/doi.org\/10.1038\/nrg3999","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1038\/nrg3999"},{"@attributes":{"IdType":"pubmed"},"@text":"26503795"}]}},{"Citation":"Emery AEH, Muntoni F, Quinlivan RCM (1993) Duchenne muscular dystrophy (4edn) Oxford University Press. https:\/\/doi.org\/10.1093\/med\/9780199681488.001.0001 ."},{"Citation":"Doorenweerd N, Mahfouz A, van Putten M, Kaliyaperumal R, T\u2019 Hoen PAC, Hendriksen JGM, Aartsma-Rus AM, Verschuuren JJGM et al (2017) Timing and localization of human dystrophin isoform expression provide insights into the cognitive phenotype of Duchenne muscular dystrophy. Sci Rep 7(1):12575. https:\/\/doi.org\/10.1038\/s41598-017-12981-5","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1038\/s41598-017-12981-5"},{"@attributes":{"IdType":"pubmed"},"@text":"28974727"},{"@attributes":{"IdType":"pmc"},"@text":"5626779"}]}},{"Citation":"Arag\u00f3n J, Gonz\u00e1lez-Reyes M, Romo-Y\u00e1\u00f1ez J, Vacca O, Aguilar-Gonz\u00e1lez G, Rend\u00f3n A, Vaillend C, Monta\u00f1ez C (2018) Dystrophin Dp71 isoforms are differentially expressed in the mouse brain and retina: report of new alternative splicing and a novel nomenclature for Dp71 isoforms. Mol Neurobiol 55(2):1376\u20131386. https:\/\/doi.org\/10.1007\/s12035-017-0405-x","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1007\/s12035-017-0405-x"},{"@attributes":{"IdType":"pubmed"},"@text":"28127699"}]}},{"Citation":"Fujimoto T, Yaoi T, Tanaka H, Itoh K (2020) Dystroglycan regulates proper expression, submembranous localization and subsequent phosphorylation of Dp71 through physical interaction. Hum Mol Genet 29(19):3312\u20133326. https:\/\/doi.org\/10.1093\/hmg\/ddaa217","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1093\/hmg\/ddaa217"},{"@attributes":{"IdType":"pubmed"},"@text":"32996569"}]}},{"Citation":"Gonz\u00e1lez-Reyes M, Arag\u00f3n J, S\u00e1nchez-Trujillo A, Rodr\u00edguez-Mart\u00ednez G, Duarte K, Eleftheriou E, Barnier JV, Naquin D et al (2024) Expression of dystrophin Dp71 splice variants is temporally regulated during rodent brain development. Mol Neurobiol. https:\/\/doi.org\/10.1007\/s12035-024-04232-2","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1007\/s12035-024-04232-2"},{"@attributes":{"IdType":"pubmed"},"@text":"38802640"},{"@attributes":{"IdType":"pmc"},"@text":"11584426"}]}},{"Citation":"Romo-Y\u00e1\u00f1ez J, Rodr\u00edguez-Mart\u00ednez G, Arag\u00f3n J, Siqueiros-M\u00e1rquez L, Herrera-Salazar A, Velasco I, Montanez C (2020) Characterization of the expression of dystrophins and dystrophin-associated proteins during embryonic neural stem\/progenitor cell differentiation. Neurosci Lett 736:135247. https:\/\/doi.org\/10.1016\/j.neulet.2020.135247","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1016\/j.neulet.2020.135247"},{"@attributes":{"IdType":"pubmed"},"@text":"32668267"}]}},{"Citation":"Daoud F, Angeard N, Demerre B, Martie I, Benyaou R, Leturcq F, Coss\u00e9e M, Deburgrave N et al (2009) Analysis of Dp71 contribution in the severity of mental retardation through comparison of Duchenne and Becker patients differing by mutation consequences on Dp71 expression. Hum Mol Genet 18(20):3779\u20133794. https:\/\/doi.org\/10.1093\/hmg\/ddp320","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1093\/hmg\/ddp320"},{"@attributes":{"IdType":"pubmed"},"@text":"19602481"}]}},{"Citation":"Iskandar K, Triono A, Sunartini, Dwianingsih EK, Indraswari BW, Kirana IR, Ivana G, Sutomo R et al (2022) Dp71 and intellectual disability in Indonesian patients with Duchenne muscular dystrophy. PLoS One 17(10):e0276640. https:\/\/doi.org\/10.1371\/journal.pone.0276640","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1371\/journal.pone.0276640"},{"@attributes":{"IdType":"pubmed"},"@text":"36315559"},{"@attributes":{"IdType":"pmc"},"@text":"9621454"}]}},{"Citation":"Lenk U, Hanke R, Thiele H, Speer A (1993) Point mutations at the carboxy terminus of the human dystrophin gene: implications for an association with mental retardation in DMD patients. Hum Mol Genet 2(11):1877\u20131881. https:\/\/doi.org\/10.1093\/hmg\/2.11.1877","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1093\/hmg\/2.11.1877"},{"@attributes":{"IdType":"pubmed"},"@text":"8281150"}]}},{"Citation":"Moizard MP, Toutain A, Fournier D, Berret F, Raynaud M, Billard C, Andres C, Moraine C (2000) Severe cognitive impairment in DMD: obvious clinical indication for Dp71 isoform point mutation screening. Eur J Hum Genet 8(7):552\u2013556. https:\/\/doi.org\/10.1038\/sj.ejhg.5200488","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1038\/sj.ejhg.5200488"},{"@attributes":{"IdType":"pubmed"},"@text":"10909857"}]}},{"Citation":"Pascual-Morena C, Cavero-Redondo I, \u00c1lvarez-Bueno C, Jim\u00e9nez-L\u00f3pez E, Saz-Lara A, Mart\u00ednez-Garc\u00eda I, Mart\u00ednez-Vizca\u00edno V (2023) Global prevalence of intellectual developmental disorder in dystrophinopathies: a systematic review and meta-analysis. Dev Med Child Neurol 65(6):734\u2013744. https:\/\/doi.org\/10.1111\/dmcn.15481","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1111\/dmcn.15481"},{"@attributes":{"IdType":"pubmed"},"@text":"36440509"}]}},{"Citation":"Taylor PJ, Betts GA, Maroulis S, Gilissen C, Pedersen RL, Mowat DR, Johnston HM, Buckley MF (2010) Dystrophin gene mutation location and the risk of cognitive impairment in Duchenne muscular dystrophy. PLoS One 5(1):e8803. https:\/\/doi.org\/10.1371\/journal.pone.0008803","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1371\/journal.pone.0008803"},{"@attributes":{"IdType":"pubmed"},"@text":"20098710"},{"@attributes":{"IdType":"pmc"},"@text":"2808359"}]}},{"Citation":"G\u00f3recki DC, Abdulrazzak H, Lukasiuk K, Barnard EA (1997) Differential expression of syntrophins and analysis of alternatively spliced dystrophin transcripts in the mouse brain. Eur J Neurosci 9(5):965\u2013976. https:\/\/doi.org\/10.1111\/j.1460-9568.1997.tb01447.x","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1111\/j.1460-9568.1997.tb01447.x"},{"@attributes":{"IdType":"pubmed"},"@text":"9182949"}]}},{"Citation":"Wertz K, F\u00fcchtbauer EM (1998) Dmd(mdx-beta geo): a new allele for the mouse dystrophin gene. Dev Dyn 212(2):229\u2013241. https:\/\/doi.org\/10.1002\/(SICI)1097-0177(199806)212:2%3c229::AID-AJA7%3e3.0.CO;2-J","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1002\/(SICI)1097-0177(199806)212:2<229::AID-AJA7>3.0.CO;2-J"},{"@attributes":{"IdType":"pubmed"},"@text":"9626497"}]}},{"Citation":"Sarig R, Mezger-Lallemand V, Gitelman I, Davis C, Fuchs O, Yaffe D, Nudel U (1999) Targeted inactivation of Dp71, the major non-muscle product of the DMD gene: differential activity of the Dp71 promoter during development. Hum Mol Genet 8(1):1\u201310. https:\/\/doi.org\/10.1093\/hmg\/8.1.1","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1093\/hmg\/8.1.1"},{"@attributes":{"IdType":"pubmed"},"@text":"9887326"}]}},{"Citation":"Simon MJ, Murchison C, Iliff JJ (2018) A transcriptome-based assessment of the astrocytic dystrophin-associated complex in the developing human brain. J Neurosci Res 96(2):180\u2013193. https:\/\/doi.org\/10.1002\/jnr.24082","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1002\/jnr.24082"},{"@attributes":{"IdType":"pubmed"},"@text":"28509351"}]}},{"Citation":"Pa\u00fal-Gonz\u00e1lez S, Arag\u00f3n J, Rodr\u00edguez-Mart\u00ednez G, Romo-Y\u00e1\u00f1ez J, Montanez C (2021) Differential expression of Dp71 and Dp40 isoforms in proliferating and differentiated neural stem cells: identification of Dp40 splicing variants. Biochem Biophys Res Commun 560:152\u2013158. https:\/\/doi.org\/10.1016\/j.bbrc.2021.03.142","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1016\/j.bbrc.2021.03.142"},{"@attributes":{"IdType":"pubmed"},"@text":"33989907"}]}},{"Citation":"Fujimoto T, Itoh K, Yaoi T, Fushiki S (2014) Somatodendritic and excitatory postsynaptic distribution of neuron-type dystrophin isoform, Dp40, in hippocampal neurons. Biochem Biophys Res Commun 452(1):79\u201384. https:\/\/doi.org\/10.1016\/j.bbrc.2014.08.064","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1016\/j.bbrc.2014.08.064"},{"@attributes":{"IdType":"pubmed"},"@text":"25152393"}]}},{"Citation":"Fujimoto T, Yaoi T, Nakano K, Arai T, Okamura T, Itoh K (2022) Generation of dystrophin short product-specific tag-insertion mouse: distinct Dp71 glycoprotein complexes at inhibitory postsynapse and glia limitans. Cell Mol Life Sci 79(2):109. https:\/\/doi.org\/10.1007\/s00018-022-04151-2","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1007\/s00018-022-04151-2"},{"@attributes":{"IdType":"pubmed"},"@text":"35098363"},{"@attributes":{"IdType":"pmc"},"@text":"11071725"}]}},{"Citation":"Fujimoto T, Stam K, Yaoi T, Nakano K, Arai T, Okamura T, Itoh K (2023) Dystrophin short product, Dp71, interacts with AQP4 and Kir4.1 channels in the mouse cerebellar glial cells in contrast to Dp427 at inhibitory postsynapses in the Purkinje neurons. Mol Neurobiol 60(7):3664\u20133677. https:\/\/doi.org\/10.1007\/s12035-023-03296-w","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1007\/s12035-023-03296-w"},{"@attributes":{"IdType":"pubmed"},"@text":"36918517"}]}},{"Citation":"Tozawa T, Itoh K, Yaoi T, Tando S, Umekage M, Dai H, Hosoi H, Fushiki S (2012) The shortest isoform of dystrophin (Dp40) interacts with a group of presynaptic proteins to form a presumptive novel complex in the mouse brain. Mol Neurobiol 45(2):287\u2013297. https:\/\/doi.org\/10.1007\/s12035-012-8233-5","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1007\/s12035-012-8233-5"},{"@attributes":{"IdType":"pubmed"},"@text":"22258561"},{"@attributes":{"IdType":"pmc"},"@text":"3311850"}]}},{"Citation":"Crosbie RH, Lim LE, Moore SA, Hirano M, Hays AP, Maybaum SW, Collin H, Dovico SA et al (2000) Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions. Hum Mol Genet 9(13):2019\u20132027. https:\/\/doi.org\/10.1093\/hmg\/9.13.2019","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1093\/hmg\/9.13.2019"},{"@attributes":{"IdType":"pubmed"},"@text":"10942431"}]}},{"Citation":"Waite AJ, Carlisle FA, Chan YM, Blake DJ (2016) Myoclonus dystonia and muscular dystrophy: \u025b-sarcoglycan is part of the dystrophin-associated protein complex in brain. Mov Disord 31(11):1694\u20131703. https:\/\/doi.org\/10.1002\/mds.26738","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1002\/mds.26738"},{"@attributes":{"IdType":"pubmed"},"@text":"27535350"},{"@attributes":{"IdType":"pmc"},"@text":"5129563"}]}},{"Citation":"Blake DJ, Hawkes R, Benson MA, Beesley PW (1999) Different dystrophin-like complexes are expressed in neurons and glia. J Cell Biol 147(3):645\u2013658. https:\/\/doi.org\/10.1083\/jcb.147.3.645","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1083\/jcb.147.3.645"},{"@attributes":{"IdType":"pubmed"},"@text":"10545507"},{"@attributes":{"IdType":"pmc"},"@text":"2151186"}]}},{"Citation":"Grady RM, Wozniak DF, Ohlemiller KK, Sanes JR (2006) Cerebellar synaptic defects and abnormal motor behavior in mice lacking alpha- and beta-dystrobrevin. J Neurosci 26(11):2841\u20132851. https:\/\/doi.org\/10.1523\/JNEUROSCI.4823-05.2006","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1523\/JNEUROSCI.4823-05.2006"},{"@attributes":{"IdType":"pubmed"},"@text":"16540561"},{"@attributes":{"IdType":"pmc"},"@text":"6673965"}]}},{"Citation":"Arag\u00f3n J, Mart\u00ednez-Herrera A, Berm\u00fadez-Cruz RM, Baz\u00e1n ML, Soid-Raggi G, Ceja V, Coy-Arechavaleta AS, Alem\u00e1n V et al (2015) EF-hand domains are involved in the differential cellular distribution of dystrophin Dp40. Neurosci Lett 600:115\u2013120. https:\/\/doi.org\/10.1016\/j.neulet.2015.05.038","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1016\/j.neulet.2015.05.038"},{"@attributes":{"IdType":"pubmed"},"@text":"26004254"}]}},{"Citation":"Tinsley JM, Blake DJ, Davies KE (1993) Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site. Hum Mol Genet 2(5):521\u2013524. https:\/\/doi.org\/10.1093\/hmg\/2.5.521","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1093\/hmg\/2.5.521"},{"@attributes":{"IdType":"pubmed"},"@text":"8518789"}]}},{"Citation":"Garc\u00eda-Cruz C, Merino-Jim\u00e9nez C, Arag\u00f3n J, Ceja V, Gonz\u00e1lez-Assad B, Reyes-Grajeda JP, Montanez C (2022) Overexpression of the dystrophins Dp40 and Dp40(L170P) modifies neurite outgrowth and the protein expression profile of PC12 cells. Sci Rep 12(1):1410. https:\/\/doi.org\/10.1038\/s41598-022-05271-2","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1038\/s41598-022-05271-2"},{"@attributes":{"IdType":"pubmed"},"@text":"35082358"},{"@attributes":{"IdType":"pmc"},"@text":"8791958"}]}},{"Citation":"Belmaati Cherkaoui M, Vacca O, Izabelle C, Boulay AC, Boulogne C, Gillet C, Barnier JV, Rendon A et al (2021) Dp71 contribution to the molecular scaffold anchoring aquaporine-4 channels in brain macroglial cells. Glia 69(4):954\u2013970. https:\/\/doi.org\/10.1002\/glia.23941","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1002\/glia.23941"},{"@attributes":{"IdType":"pubmed"},"@text":"33247858"}]}},{"Citation":"Fujimoto T, Okamura T, Itoh K (2024) Extraction method combining saponin and trehalose useful for analyzing fragile intermolecular association. Biochem Biophys Res Commun 727:150323. https:\/\/doi.org\/10.1016\/j.bbrc.2024.150323","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1016\/j.bbrc.2024.150323"},{"@attributes":{"IdType":"pubmed"},"@text":"38945065"}]}},{"Citation":"Uezu A, Kanak DJ, Bradshaw TW, Soderblom EJ, Catavero CM, Burette AC, Weinberg RJ, Soderling SH (2016) Identification of an elaborate complex mediating postsynaptic inhibition. Science 353(6304):1123\u20131129. https:\/\/doi.org\/10.1126\/science.aag0821","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1126\/science.aag0821"},{"@attributes":{"IdType":"pubmed"},"@text":"27609886"},{"@attributes":{"IdType":"pmc"},"@text":"5432043"}]}},{"Citation":"Uezu A, Hisey E, Kobayashi Y, Gao Y, Bradshaw TW, Devlin P, Rodriguiz R, Tata PR et al (2019) Essential role for InSyn1 in dystroglycan complex integrity and cognitive behaviors in mice. Elife 8:e50712. https:\/\/doi.org\/10.7554\/eLife.50712","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.7554\/eLife.50712"},{"@attributes":{"IdType":"pubmed"},"@text":"31829939"},{"@attributes":{"IdType":"pmc"},"@text":"6944460"}]}},{"Citation":"Angelini C, Pinzan E (2019) Advances in imaging of brain abnormalities in neuromuscular disease. Ther Adv Neurol Disord 12:1756286419845567. https:\/\/doi.org\/10.1177\/1756286419845567","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1177\/1756286419845567"},{"@attributes":{"IdType":"pubmed"},"@text":"31105770"},{"@attributes":{"IdType":"pmc"},"@text":"6503605"}]}},{"Citation":"Beltr\u00e1n-Valero de Bernab\u00e9 D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L et al (2002) Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 71(5):1033\u20131043. https:\/\/doi.org\/10.1086\/342975","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1086\/342975"},{"@attributes":{"IdType":"pubmed"},"@text":"12369018"},{"@attributes":{"IdType":"pmc"},"@text":"419999"}]}},{"Citation":"Booler HS, Williams JL, Hopkinson M, Brown SC (2016) Degree of Cajal-Retzius cell mislocalization correlates with the severity of structural brain defects in mouse models of dystroglycanopathy. Brain Pathol 26(4):465\u2013478. https:\/\/doi.org\/10.1111\/bpa.12306","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1111\/bpa.12306"},{"@attributes":{"IdType":"pubmed"},"@text":"26306834"}]}},{"Citation":"Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, Straub V, Robb S et al (2007) Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 130(Pt 10):2725\u20132735. https:\/\/doi.org\/10.1093\/brain\/awm212","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1093\/brain\/awm212"},{"@attributes":{"IdType":"pubmed"},"@text":"17878207"}]}},{"Citation":"Jagadha V, Becker LE (1988) Brain morphology in Duchenne muscular dystrophy: a Golgi study. Pediatr Neurol 4(2):87\u201392. https:\/\/doi.org\/10.1016\/0887-8994(88)90047-1","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1016\/0887-8994(88)90047-1"},{"@attributes":{"IdType":"pubmed"},"@text":"3242516"}]}},{"Citation":"Jahncke JN, Miller DS, Krush M, Schnell E, Wright KM (2024) Inhibitory CCK+ basket synapse defects in mouse models of dystroglycanopathy. Elife 12:RP87965. https:\/\/doi.org\/10.7554\/eLife.87965","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.7554\/eLife.87965"},{"@attributes":{"IdType":"pubmed"},"@text":"38179984"},{"@attributes":{"IdType":"pmc"},"@text":"10942650"}]}},{"Citation":"Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, Feng L, Saran RK et al (2003) Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet 12(21):2853\u20132861. https:\/\/doi.org\/10.1093\/hmg\/ddg307","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1093\/hmg\/ddg307"},{"@attributes":{"IdType":"pubmed"},"@text":"12966029"}]}},{"Citation":"Michele DE, Barresi R, Kanagawa M, Saito F, Cohn RD, Satz JS, Dollar J, Nishino I et al (2002) Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies. Nature 418(6896):417\u2013422. https:\/\/doi.org\/10.1038\/nature00837","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1038\/nature00837"},{"@attributes":{"IdType":"pubmed"},"@text":"12140558"}]}},{"Citation":"Yoshioka M, Okuno T, Honda Y, Nakano Y (1980) Central nervous system involvement in progressive muscular dystrophy. Arch Dis Child 55(8):589\u2013594. https:\/\/doi.org\/10.1136\/adc.55.8.589","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1136\/adc.55.8.589"},{"@attributes":{"IdType":"pubmed"},"@text":"7436514"},{"@attributes":{"IdType":"pmc"},"@text":"1627064"}]}},{"Citation":"Bhat HF, Mir SS, Dar KB, Bhat ZF, Shah RA, Ganai NA (2018) ABC of multifaceted dystrophin glycoprotein complex (DGC). J Cell Physiol 233(7):5142\u20135159. https:\/\/doi.org\/10.1002\/jcp.25982","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1002\/jcp.25982"},{"@attributes":{"IdType":"pubmed"},"@text":"28464259"}]}},{"Citation":"Canessa EH, Spathis R, Novak JS, Beedle A, Nagaraju K, Bello L, Pegoraro E, Hoffman EP et al (2024) Characterization of the dystrophin-associated protein complex by mass spectrometry. Mass Spectrom Rev 43(1):90\u2013105. https:\/\/doi.org\/10.1002\/mas.21823","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1002\/mas.21823"},{"@attributes":{"IdType":"pubmed"},"@text":"36420714"}]}},{"Citation":"Garc\u00eda-Cruz C, Arag\u00f3n J, Lourdel S, Annan A, Roger JE, Montanez C, Vaillend C (2023) Tissue- and cell-specific whole-transcriptome meta-analysis from brain and retina reveals differential expression of dystrophin complexes and new dystrophin spliced isoforms. Hum Mol Genet 32(4):659\u2013676. https:\/\/doi.org\/10.1093\/hmg\/ddac236","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1093\/hmg\/ddac236"},{"@attributes":{"IdType":"pubmed"},"@text":"36130212"}]}},{"Citation":"Haenggi T, Fritschy JM (2006) Role of dystrophin and utrophin for assembly and function of the dystrophin glycoprotein complex in non-muscle tissue. Cell Mol Life Sci 63(14):1614\u20131631. https:\/\/doi.org\/10.1007\/s00018-005-5461-0","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1007\/s00018-005-5461-0"},{"@attributes":{"IdType":"pubmed"},"@text":"16710609"},{"@attributes":{"IdType":"pmc"},"@text":"11136313"}]}},{"Citation":"Pilgram GS, Potikanond S, Baines RA, Fradkin LG, Noordermeer JN (2010) The roles of the dystrophin-associated glycoprotein complex at the synapse. Mol Neurobiol 41(1):1\u201321. https:\/\/doi.org\/10.1007\/s12035-009-8089-5","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1007\/s12035-009-8089-5"},{"@attributes":{"IdType":"pubmed"},"@text":"19899002"}]}},{"Citation":"Waite A, Tinsley CL, Locke M, Blake DJ (2009) The neurobiology of the dystrophin-associated glycoprotein complex. Ann Med 41(5):344\u2013359. https:\/\/doi.org\/10.1080\/07853890802668522","ArticleIdList":{"ArticleId":[{"@attributes":{"IdType":"doi"},"@text":"10.1080\/07853890802668522"},{"@attributes":{"IdType":"pubmed"},"@text":"19172427"}]}}]}]}}}