{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T04:31:01Z","timestamp":1790742661094,"version":"4.1.0"},"reference-count":63,"publisher":"Oxford University Press (OUP)","issue":"8","license":[{"start":{"date-parts":[[2024,1,25]],"date-time":"2024-01-25T00:00:00Z","timestamp":1706140800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS109149"],"award-info":[{"award-number":["R01NS109149"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000867","name":"Robert Wood Johnson Foundation","doi-asserted-by":"publisher","award":["#74260"],"award-info":[{"award-number":["#74260"]}],"id":[{"id":"10.13039\/100000867","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["T32NS115700"],"award-info":[{"award-number":["T32NS115700"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R25NS105143"],"award-info":[{"award-number":["R25NS105143"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Rutgers Cancer Institute of New Jersey Biospecimen Repository and Histopathology Service Shared Resource"},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["NCI-CCSG P30CA072720-5919"],"award-info":[{"award-number":["NCI-CCSG P30CA072720-5919"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["NCI-CCSG P30CA016087"],"award-info":[{"award-number":["NCI-CCSG P30CA016087"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Laura and Isaac Perlmutter Cancer Center"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,4,8]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Biallelic mutations in Protein O-mannosyltransferase 1 (POMT1) are among the most common causes of a severe group of congenital muscular dystrophies (CMDs) known as dystroglycanopathies. POMT1 is a glycosyltransferase responsible for the attachment of a functional glycan mediating interactions between the transmembrane glycoprotein dystroglycan and its binding partners in the extracellular matrix (ECM). Disruptions in these cell-ECM interactions lead to multiple developmental defects causing brain and eye malformations in addition to CMD. Removing Pomt1 in the mouse leads to early embryonic death due to the essential role of dystroglycan during placental formation in rodents. Here, we characterized and validated a model of pomt1 loss of function in the zebrafish showing that developmental defects found in individuals affected by dystroglycanopathies can be recapitulated in the fish. We also discovered that pomt1 mRNA provided by the mother in the oocyte supports dystroglycan glycosylation during the first few weeks of development. Muscle disease, retinal synapse formation deficits, and axon guidance defects can only be uncovered during the first week post fertilization by generating knock-out embryos from knock-out mothers. Conversely, maternal pomt1 from heterozygous mothers was sufficient to sustain muscle, eye, and brain development only leading to loss of photoreceptor synapses at 30\u00a0days post fertilization. Our findings show that it is important to define the contribution of maternal mRNA while developing zebrafish models of dystroglycanopathies and that offspring generated from heterozygous and knock-out mothers can be used to differentiate the role of dystroglycan glycosylation in tissue formation and maintenance.<\/jats:p>","DOI":"10.1093\/hmg\/ddae006","type":"journal-article","created":{"date-parts":[[2024,1,26]],"date-time":"2024-01-26T00:33:40Z","timestamp":1706229220000},"page":"709-723","source":"Crossref","is-referenced-by-count":5,"title":["Removal of <i>pomt1<\/i> in zebrafish leads to loss of \u03b1-dystroglycan glycosylation and dystroglycanopathy phenotypes"],"prefix":"10.1093","volume":"33","author":[{"given":"Brittany F","family":"Karas","sequence":"first","affiliation":[{"name":"Department of Neuroscience and Cell Biology , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"},{"name":"Rutgers University-Robert Wood Johnson Medical School , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristin R","family":"Terez","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Cell Biology , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"},{"name":"Rutgers University-Robert Wood Johnson Medical School , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shorbon","family":"Mowla","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Cell Biology , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"},{"name":"Rutgers University-Robert Wood Johnson Medical School , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Namarata","family":"Battula","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Cell Biology , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"},{"name":"Rutgers University-Robert Wood Johnson Medical School , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyle P","family":"Flannery","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Cell Biology , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"},{"name":"Rutgers University-Robert Wood Johnson Medical School , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian M","family":"Gural","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Cell Biology , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"},{"name":"Rutgers University-Robert Wood Johnson Medical School , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grace","family":"Aboussleman","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Cell Biology , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"},{"name":"Rutgers University-Robert Wood Johnson Medical School , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Numa","family":"Mubin","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Cell Biology , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"},{"name":"Rutgers University-Robert Wood Johnson Medical School , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7175-1096","authenticated-orcid":false,"given":"M Chiara","family":"Manzini","sequence":"additional","affiliation":[{"name":"Department of Neuroscience and Cell Biology , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"},{"name":"Rutgers University-Robert Wood Johnson Medical School , Child Health Institute of New Jersey, , 89 French Street, New Brunswick, NJ 08901 , United States"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,1,25]]},"reference":[{"key":"2024040813554240000_ref1","doi-asserted-by":"crossref","first-page":"289","DOI":"10.1016\/j.nmd.2013.12.011","article-title":"Diagnostic approach to the congenital muscular dystrophies","volume":"24","author":"B\u00f6nnemann","year":"2014","journal-title":"Neuromuscul Disord"},{"key":"2024040813554240000_ref2","doi-asserted-by":"crossref","first-page":"13162","DOI":"10.3390\/ijms222313162","article-title":"Dystroglycanopathy: from elucidation of molecular and pathological mechanisms to development of treatment methods","volume":"22","author":"Kanagawa","year":"2021","journal-title":"Int J Mol Sci"},{"key":"2024040813554240000_ref3","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1093\/glycob\/cwv021","article-title":"Matriglycan: a novel polysaccharide that links dystroglycan to the basement membrane","volume":"25","author":"Yoshida-Moriguchi","year":"2015","journal-title":"Glycobiology"},{"key":"2024040813554240000_ref4","doi-asserted-by":"crossref","first-page":"3058","DOI":"10.1111\/jcmm.14218","article-title":"A molecular overview of the primary dystroglycanopathies","volume":"23","author":"Brancaccio","year":"2019","journal-title":"J Cell Mol Med"},{"key":"2024040813554240000_ref5","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1016\/j.nmd.2021.07.009","article-title":"Congenital muscular dystrophies: what is new?","volume":"31","author":"Zambon","year":"2021","journal-title":"Neuromuscul Disord"},{"key":"2024040813554240000_ref6","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1212\/01.WNL.0000115386.28769.65","article-title":"POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG","volume":"62","author":"Kim","year":"2004","journal-title":"Neurology"},{"key":"2024040813554240000_ref7","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1212\/WNL.0000000000001303","article-title":"Prevalence of congenital muscular dystrophy in Italy: a population study","volume":"84","author":"Graziano","year":"2015","journal-title":"Neurology"},{"key":"2024040813554240000_ref8","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1016\/j.nmd.2017.06.008","article-title":"Congenital muscular dystrophies in the UK population: clinical and molecular spectrum of a large cohort diagnosed over a 12-year period","volume":"27","author":"Sframeli","year":"2017","journal-title":"Neuromuscul Disord"},{"key":"2024040813554240000_ref9","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1111\/cge.13886","article-title":"Genetic variations and clinical Spectrum of Dystroglycanopathy in a large cohort of Chinese 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of zebrafish protein-coding gene function","volume":"496","author":"Kettleborough","year":"2013","journal-title":"Nature"},{"key":"2024040813554240000_ref29","doi-asserted-by":"crossref","first-page":"E231","DOI":"10.1002\/humu.20844","article-title":"Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East","volume":"29","author":"Manzini","year":"2008","journal-title":"Hum Mutat"},{"key":"2024040813554240000_ref30","doi-asserted-by":"crossref","first-page":"2725","DOI":"10.1093\/brain\/awm212","article-title":"Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan","volume":"130","author":"Godfrey","year":"2007","journal-title":"Brain J Neurol"},{"key":"2024040813554240000_ref31","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1111\/j.1460-9568.2010.07574.x","article-title":"Cone arrestin confers cone vision of high temporal resolution in 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