| http://purl.uniprot.org/citations/33016623 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/33016623 | http://www.w3.org/2000/01/rdf-schema#comment | "Distal arthrogryposis (DA) is group of syndromes characterized by congenital joint contractures. Treatment development is hindered by the lack of vertebrate models. Here, we describe a zebrafish model in which a common MYH3 missense mutation (R672H) was introduced into the orthologous zebrafish gene smyhc1 (slow myosin heavy chain 1) (R673H). We simultaneously created a smyhc1 null allele (smyhc1- ), which allowed us to compare the effects of both mutant alleles on muscle and bone development, and model the closely related disorder, spondylocarpotarsal synostosis syndrome. Heterozygous smyhc1R673H/+ embryos developed notochord kinks that progressed to scoliosis with vertebral fusions; motor deficits accompanied the disorganized and shortened slow-twitch skeletal muscle myofibers. Increased dosage of the mutant allele in both homozygous smyhc1R673H/R673H and transheterozygous smyhc1R673H/- embryos exacerbated the notochord and muscle abnormalities, causing early lethality. Treatment of smyhc1R673H/R673H embryos with the myosin ATPase inhibitor, para-aminoblebbistatin, which decreases actin-myosin affinity, normalized the notochord phenotype. Our zebrafish model of MYH3-associated DA2A provides insight into pathogenic mechanisms and suggests a beneficial therapeutic role for myosin inhibitors in treating disabling contractures."xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.org/dc/terms/identifier | "doi:10.15252/emmm.202012356"xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/author | "Harris M."xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/author | "Johnson A.N."xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/author | "Sepich D.S."xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/author | "Whittle J."xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/author | "Solnica-Krezel L."xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/author | "Gurnett C.A."xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/author | "Dobbs M.B."xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/author | "Antunes L."xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/author | "Mokalled M."xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/author | "Upshaw Z."xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/name | "EMBO Mol Med"xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/pages | "e12356"xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/title | "MYH3-associated distal arthrogryposis zebrafish model is normalized with para-aminoblebbistatin."xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://purl.uniprot.org/core/volume | "12"xsd:string |
| http://purl.uniprot.org/citations/33016623 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/33016623 |
| http://purl.uniprot.org/citations/33016623 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/33016623 |
| http://purl.uniprot.org/uniprot/Q508P8#attribution-09EAB689C45F8216DEAA9F52F2645D2B | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/33016623 |
| http://purl.uniprot.org/uniprot/A0A0R4INI3#attribution-09EAB689C45F8216DEAA9F52F2645D2B | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/33016623 |
| http://purl.uniprot.org/uniprot/#_A0A0R4INI3-mappedCitation-33016623 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33016623 |
| http://purl.uniprot.org/uniprot/#_B6IDE0-mappedCitation-33016623 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33016623 |
| http://purl.uniprot.org/uniprot/#_B6IDE1-mappedCitation-33016623 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/33016623 |