| http://purl.uniprot.org/citations/22922231 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22922231 | http://www.w3.org/2000/01/rdf-schema#comment | "Hereditary sensory and autonomic neuropathies (HSANs) encompass a group of genetically inherited disorders characterized by sensory and autonomic dysfunctions. Familial dysautonomia (FD), also known as HSAN type III, is an autosomal recessive disorder that affects 1/3600 live births in the Ashkenazi Jewish population. The disease is caused by abnormal development and progressive degeneration of the sensory and autonomic nervous systems and is inevitably fatal, with only 50% of patients reaching the age of 40. FD is caused by a mutation in intron 20 of the Ikbkap gene that results in severe reduction in the expression of its encoded protein, inhibitor of kappaB kinase complex-associated protein (IKAP). Although the mutation that causes FD was identified in 2001, so far there is no appropriate animal model that recapitulates the disorder. Here, we report the generation and characterization of the first mouse models for FD that recapitulate the molecular and pathological features of the disease. Important for therapeutic interventions is also our finding that a slight increase in IKAP levels is enough to ameliorate the phenotype and increase the life span. Understanding the mechanisms underlying FD will provide insights for potential new therapeutic interventions not only for FD, but also for other peripheral neuropathies."xsd:string |
| http://purl.uniprot.org/citations/22922231 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/dds354"xsd:string |
| http://purl.uniprot.org/citations/22922231 | http://purl.uniprot.org/core/author | "Dietrich P."xsd:string |
| http://purl.uniprot.org/citations/22922231 | http://purl.uniprot.org/core/author | "Dragatsis I."xsd:string |
| http://purl.uniprot.org/citations/22922231 | http://purl.uniprot.org/core/author | "Shanmugasundaram R."xsd:string |
| http://purl.uniprot.org/citations/22922231 | http://purl.uniprot.org/core/author | "Alli S."xsd:string |
| http://purl.uniprot.org/citations/22922231 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22922231 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/22922231 | http://purl.uniprot.org/core/pages | "5078-5090"xsd:string |
| http://purl.uniprot.org/citations/22922231 | http://purl.uniprot.org/core/title | "IKAP expression levels modulate disease severity in a mouse model of familial dysautonomia."xsd:string |
| http://purl.uniprot.org/citations/22922231 | http://purl.uniprot.org/core/volume | "21"xsd:string |
| http://purl.uniprot.org/citations/22922231 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/22922231 |
| http://purl.uniprot.org/citations/22922231 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/22922231 |
| http://purl.uniprot.org/uniprot/#_A0A0U1RNZ0-mappedCitation-22922231 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22922231 |
| http://purl.uniprot.org/uniprot/#_E9Q9G5-mappedCitation-22922231 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22922231 |
| http://purl.uniprot.org/uniprot/#_A0A0U1RNG0-mappedCitation-22922231 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22922231 |
| http://purl.uniprot.org/uniprot/#_D3Z0B1-mappedCitation-22922231 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22922231 |
| http://purl.uniprot.org/uniprot/#_D6RGQ9-mappedCitation-22922231 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22922231 |
| http://purl.uniprot.org/uniprot/#_F6VPB5-mappedCitation-22922231 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22922231 |
| http://purl.uniprot.org/uniprot/#_P24529-mappedCitation-22922231 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22922231 |
| http://purl.uniprot.org/uniprot/#_Q3UTB3-mappedCitation-22922231 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22922231 |
| http://purl.uniprot.org/uniprot/#_Q99JA0-mappedCitation-22922231 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22922231 |
| http://purl.uniprot.org/uniprot/#_P70160-mappedCitation-22922231 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22922231 |
| http://purl.uniprot.org/uniprot/#_Q3TD73-mappedCitation-22922231 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/22922231 |