| http://purl.uniprot.org/citations/10686344 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10686344 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10686344 | http://www.w3.org/2000/01/rdf-schema#comment | "Refsum disease is an autosomal recessive neurologic disorder of the lipid metabolism. Major diagnostic clinical findings include retinitis pigmentosa, peripheral polyneuropathy, cerebellar ataxia, increased cerebrospinal fluid protein without pleocytosis, nerve deafness, and cardiac involvement. We have identified a novel protein (PAHX-AP #1) associated with phytanoyl-CoA alpha-hydroxylase (PAHX), a Refsum disease gene product, using the yeast-based two-hybrid assay. The middle portion (amino acids 83-264) of PAHX was used as a bait and a mouse brain cDNA library was searched. The ability of PAHX-AP #1 to interact with PAHX was confirmed using immunoprecipitation and Western blot studies in NIH3T3 cells which stably expressed both PAHX and PAHX-AP #1. Northern and Western blot analyses demonstrated a unique pattern of developmental PAHX-AP #1 expression which was targeted to the adult brain, but ubiquitous expressions of PAHX were observed in all examined tissues. In situ hybridization analyses of the brain showed specific localization of PAHX-AP #1 to the supragranular layer in the cerebral cortex, dentate gyrus, hippocampus, Purkinje cell layer, deep cerebellar nucleus, trigeminal nucleus, abducent nucleus, facial nucleus, cochlear and vestibular nucleus, ganglion cell and nuclear layer of the retina. These data indicate that localization of PAHX-AP #1 in the brain is correlated with central neurologic symptoms of Refsum disease such as retinitis pigmentosa, cerebellar ataxia, nerve deafness and suggest that PAHX-AP #1 may be involved in the development of the central neurologic deficits of Refsum disease."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0169-328x(99)00304-6"xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0169-328x(99)00304-6"xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/author | "Kim K.K."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/author | "Kim K.K."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/author | "Seo K.H."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/author | "Seo K.H."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/author | "Kim J.K."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/author | "Kim J.K."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/author | "Lee Z.H."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/author | "Lee Z.H."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/author | "Ahn K.Y."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/author | "Ahn K.Y."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/author | "Bae C.S."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/author | "Bae C.S."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/author | "Kim H.-H."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/author | "Kim H.-H."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/name | "Brain Res. Mol. Brain Res."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/name | "Brain Res. Mol. Brain Res."xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/pages | "237-247"xsd:string |
| http://purl.uniprot.org/citations/10686344 | http://purl.uniprot.org/core/pages | "237-247"xsd:string |