| http://purl.uniprot.org/citations/32205255 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32205255 | http://www.w3.org/2000/01/rdf-schema#comment | "We analyzed Trim2A/A mice, generated by CRISPR-Cas9, which have a recessive, null mutation of Trim2. Trim2A/A mice develop ataxia that is associated with a severe loss of cerebellar Purkinje cells and a peripheral neuropathy. Myelinated axons in the CNS, including those in the deep cerebellar nuclei, have focal enlargements that contain mitochondria and neurofilaments. In the PNS, there is a loss of myelinated axons, particularly in the most distal nerves. The pathologically affected neuronal populations - primary sensory and motor neurons as well as cerebellar Purkinje cells - express TRIM2, suggesting that loss of TRIM2 in these neurons results in cell autonomous effects on their axons. In contrast, these pathological findings were not found in a second strain of Trim2 mutant mice (Trim2C/C), which has a partial deletion in the RING domain that is needed for ubiquitin ligase activity. Both the Trim2Aand the Trim2C alleles encode mutant TRIM2 proteins with reduced ubiquitination activity. In sum, Trim2A/A mice are a genetically authentic animal model of a recessive axonal neuropathy of humans, apparently for a function that does not depend on the ubiquitin ligase activity."xsd:string |
| http://purl.uniprot.org/citations/32205255 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.nbd.2020.104845"xsd:string |
| http://purl.uniprot.org/citations/32205255 | http://purl.uniprot.org/core/author | "Ross S.R."xsd:string |
| http://purl.uniprot.org/citations/32205255 | http://purl.uniprot.org/core/author | "Li J.J."xsd:string |
| http://purl.uniprot.org/citations/32205255 | http://purl.uniprot.org/core/author | "Scherer S.S."xsd:string |
| http://purl.uniprot.org/citations/32205255 | http://purl.uniprot.org/core/author | "Lancaster E."xsd:string |
| http://purl.uniprot.org/citations/32205255 | http://purl.uniprot.org/core/author | "Otkiran-Clare G."xsd:string |
| http://purl.uniprot.org/citations/32205255 | http://purl.uniprot.org/core/author | "Sarute N."xsd:string |
| http://purl.uniprot.org/citations/32205255 | http://purl.uniprot.org/core/author | "Fagla B.M."xsd:string |
| http://purl.uniprot.org/citations/32205255 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32205255 | http://purl.uniprot.org/core/name | "Neurobiol Dis"xsd:string |
| http://purl.uniprot.org/citations/32205255 | http://purl.uniprot.org/core/pages | "104845"xsd:string |
| http://purl.uniprot.org/citations/32205255 | http://purl.uniprot.org/core/title | "A recessive Trim2 mutation causes an axonal neuropathy in mice."xsd:string |
| http://purl.uniprot.org/citations/32205255 | http://purl.uniprot.org/core/volume | "140"xsd:string |
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