| http://purl.uniprot.org/citations/35763354 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/35763354 | http://www.w3.org/2000/01/rdf-schema#comment | "Striated preferentially expressed protein kinase (SPEG), a myosin light chain kinase, is mutated in centronuclear myopathy (CNM) and/or dilated cardiomyopathy. No precise therapies are available for this disorder, and gene replacement therapy is not a feasible option due to the large size of SPEG. We evaluated the potential of dynamin-2 (DNM2) reduction as a potential therapeutic strategy because it has been shown to revert muscle phenotypes in mouse models of CNM caused by MTM1, DNM2, and BIN1 mutations. We determined that SPEG-β interacted with DNM2, and SPEG deficiency caused an increase in DNM2 levels. The DNM2 reduction strategy in Speg-KO mice was associated with an increase in life span, body weight, and motor performance. Additionally, it normalized the distribution of triadic proteins, triad ultrastructure, and triad number and restored phosphatidylinositol-3-phosphate levels in SPEG-deficient skeletal muscles. Although DNM2 reduction rescued the myopathy phenotype, it did not improve cardiac dysfunction, indicating a differential tissue-specific function. Combining DNM2 reduction with other strategies may be needed to target both the cardiac and skeletal defects associated with SPEG deficiency. DNM2 reduction should be explored as a therapeutic strategy against other genetic myopathies (and dystrophies) associated with a high level of DNM2."xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.org/dc/terms/identifier | "doi:10.1172/jci.insight.157336"xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/author | "Lin J."xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/author | "Liu X."xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/author | "Li G."xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/author | "Luo S."xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/author | "Li Q."xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/author | "Laporte J."xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/author | "Agrawal P.B."xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/author | "Perrella M.A."xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/author | "Widrick J.J."xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/date | "2022"xsd:gYear |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/name | "JCI Insight"xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/pages | "e157336"xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/title | "Dynamin-2 reduction rescues the skeletal myopathy of a SPEG-deficient mouse model."xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://purl.uniprot.org/core/volume | "7"xsd:string |
| http://purl.uniprot.org/citations/35763354 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/35763354 |
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| http://purl.uniprot.org/uniprot/#_A0A3Q4EBR8-mappedCitation-35763354 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/35763354 |