| http://purl.uniprot.org/citations/24668811 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24668811 | http://www.w3.org/2000/01/rdf-schema#comment | "The core of skeletal muscle Z-discs consists of actin filaments from adjacent sarcomeres that are cross-linked by α-actinin homodimers. Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP)/Cypher interacts with α-actinin, myotilin, and other Z-disc proteins via the PDZ domain. However, these interactions are not sufficient to maintain the Z-disc structure. We show that ZASP directly interacts with skeletal actin filaments. The actin-binding domain is between the modular PDZ and LIM domains. This ZASP region is alternatively spliced so that each isoform has unique actin-binding domains. All ZASP isoforms contain the exon 6-encoded ZASP-like motif that is mutated in zaspopathy, a myofibrillar myopathy (MFM), whereas the exon 8-11 junction-encoded peptide is exclusive to the postnatal long ZASP isoform (ZASP-LΔex10). MFM is characterized by disruption of skeletal muscle Z-discs and accumulation of myofibrillar degradation products. Wild-type and mutant ZASP interact with α-actin, α-actinin, and myotilin. Expression of mutant, but not wild-type, ZASP leads to Z-disc disruption and F-actin accumulation in mouse skeletal muscle, as in MFM. Mutations in the actin-binding domain of ZASP-LΔex10, but not other isoforms, cause disruption of the actin cytoskeleton in muscle cells. These isoform-specific mutation effects highlight the essential role of the ZASP-LΔex10 isoform in F-actin organization. Our results show that MFM-associated ZASP mutations in the actin-binding domain have deleterious effects on the core structure of the Z-discs in skeletal muscle."xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.m114.550418"xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/author | "Lin X."xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/author | "Wingfield P.T."xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/author | "Banerjee S."xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/author | "Fischbeck K.H."xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/author | "Ruiz J."xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/author | "Kaufman J.D."xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/author | "Griggs R.C."xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/author | "Mankodi A."xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/author | "Ohman R."xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/author | "Bajraktari I."xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/author | "Gribble K."xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/name | "J Biol Chem"xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/pages | "13615-13626"xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/title | "Z-disc-associated, alternatively spliced, PDZ motif-containing protein (ZASP) mutations in the actin-binding domain cause disruption of skeletal muscle actin filaments in myofibrillar myopathy."xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://purl.uniprot.org/core/volume | "289"xsd:string |
| http://purl.uniprot.org/citations/24668811 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24668811 |
| http://purl.uniprot.org/citations/24668811 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/24668811 |
| http://purl.uniprot.org/uniprot/#_A0A0C4DGG7-mappedCitation-24668811 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24668811 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z501-mappedCitation-24668811 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24668811 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z521-mappedCitation-24668811 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24668811 |
| http://purl.uniprot.org/uniprot/#_A0A0S2Z530-mappedCitation-24668811 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/24668811 |