| http://purl.uniprot.org/citations/9581287 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/9581287 | http://www.w3.org/2000/01/rdf-schema#comment | "Dystonia musculorum (dt) is a recessive hereditary neuropathy of the mouse. Affected animals display loss of limb coordination and twisting of the trunk. Sensory nerve fibers of these mice are severely reduced in number, and the remaining fibers present numerous axonal swellings. The gene defective in dt, dystonin (Dst), encodes a cytoskeletal linker protein that forms the bridge between F-actin and intermediate filaments. Dst is expressed during embryogenesis, whereas overt phenotype in dt mice only appears during the second week after birth. Here we show that axonal swellings are present in sensory nerve fibers of dt embryos as early as E15.5, before myelination and radial axonal growth have begun. Thus disease progression is gradual in dt mice, having begun during embryogenesis. In dt embryos, microtubule network disorganization and cytoplasmic organelle accumulation within axonal swellings were consistently observed. In addition, a few of the axonal swellings presented intermediate filament accumulation. These results demonstrate that dystonin is required for cytoskeleton organization during axonogenesis. They also suggest that axonal transport defects, through microtubule network perturbation, may be the primary mechanism of neurodegeneration in dt mice."xsd:string |
| http://purl.uniprot.org/citations/9581287 | http://purl.org/dc/terms/identifier | "doi:10.1002/(sici)1520-6408(1998)22:2<160::aid-dvg5>3.0.co;2-4"xsd:string |
| http://purl.uniprot.org/citations/9581287 | http://purl.uniprot.org/core/author | "Bernier G."xsd:string |
| http://purl.uniprot.org/citations/9581287 | http://purl.uniprot.org/core/author | "Kothary R."xsd:string |
| http://purl.uniprot.org/citations/9581287 | http://purl.uniprot.org/core/date | "1998"xsd:gYear |
| http://purl.uniprot.org/citations/9581287 | http://purl.uniprot.org/core/name | "Dev Genet"xsd:string |
| http://purl.uniprot.org/citations/9581287 | http://purl.uniprot.org/core/pages | "160-168"xsd:string |
| http://purl.uniprot.org/citations/9581287 | http://purl.uniprot.org/core/title | "Prenatal onset of axonopathy in Dystonia musculorum mice."xsd:string |
| http://purl.uniprot.org/citations/9581287 | http://purl.uniprot.org/core/volume | "22"xsd:string |
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| http://purl.uniprot.org/uniprot/#_A0A0A6YXR1-mappedCitation-9581287 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/9581287 |
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| http://purl.uniprot.org/uniprot/#_A0A087WRB8-mappedCitation-9581287 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/9581287 |
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| http://purl.uniprot.org/uniprot/#_Q91ZU6-mappedCitation-9581287 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/9581287 |
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| http://purl.uniprot.org/uniprot/#_S4R1Y6-mappedCitation-9581287 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/9581287 |