| http://purl.uniprot.org/citations/14741210 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/14741210 | http://www.w3.org/2000/01/rdf-schema#comment | "Muscular dystrophy with myositis (mdm) is a recessive mouse mutation that is caused by a small deletion in the giant elastic muscle protein titin. Homozygous mdm/mdm mice develop a progressive muscular dystrophy, leading to death at approximately 2 months of age. We surveyed the transcriptomes of skeletal muscles from 24 day old homozygous mdm/mdm and +/+ wild-type mice, an age when MDM animals have normal passive and active tensions and sarcomeric structure. Of the 12488 genes surveyed (U74 affymetrix array), 75 genes were twofold to 30-fold differentially expressed, including CARP (cardiac ankyrin repeat protein), ankrd2/Arpp (a CARP-like protein) and MLP (muscle LIM protein), all of which associate with the titin filament system. The four genes most strongly affected (eightfold to 30-fold change) were all members of the CARP-regulated Nkx-2.5-dependent signal pathway, and CARP mRNA level was 30-fold elevated in MDM skeletal muscle tissues. The CARP protein overexpressed in MDM became associated with the I-band region of the sarcomere. The mdm mutation excises the C-terminal portion of titin's N2A region, abolishing its interaction with p94/calpain-3 protease. Thus, the composition of the titin N2A protein complex is altered in MDM by incorporation of CARP and loss of p94/calpain-3. These changes were absent from the following control tissues (1). cardiac muscles from homozygous mdm/mdm animals, (2). skeletal and cardiac muscle from heterozygous mdm/+ animals, and (3). dystrophic muscles from MDX mice. Thus, the altered composition of the titin N2A complex is specific for the titin-based skeletal muscular dystrophy in MDM."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.jmb.2003.12.021"xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/author | "Ono Y."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/author | "Wu Y."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/author | "Gotthardt M."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/author | "Granzier H."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/author | "Gregorio C.C."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/author | "Labeit D."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/author | "Labeit S."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/author | "Witt C.C."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/author | "Sorimachi H."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/author | "Witt S.H."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/author | "McNabb M."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/author | "Haak M."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/author | "Puschmann E."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/date | "2004"xsd:gYear |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/name | "J Mol Biol"xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/pages | "145-154"xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/title | "Induction and myofibrillar targeting of CARP, and suppression of the Nkx2.5 pathway in the MDM mouse with impaired titin-based signaling."xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://purl.uniprot.org/core/volume | "336"xsd:string |
| http://purl.uniprot.org/citations/14741210 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/14741210 |
| http://purl.uniprot.org/citations/14741210 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/14741210 |
| http://purl.uniprot.org/uniprot/Q9WV06#attribution-6C50F056EF260A27497DF8191EB5686F | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/14741210 |
| http://purl.uniprot.org/uniprot/Q812A3#attribution-6C50F056EF260A27497DF8191EB5686F | http://purl.uniprot.org/core/source | http://purl.uniprot.org/citations/14741210 |