| http://purl.uniprot.org/citations/32312153 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32312153 | http://www.w3.org/2000/01/rdf-schema#comment | "Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in HGprt enzyme activity can lead to the neurological syndrome, especially the self-injury of LND. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients. However, up to now, there is no satisfactory explanation of the disease and for many LND patients, efficacious treatment for persistent self-injurious behavior remains unreachable. A role for epistasis between mutated hypoxanthine phosphoribosyltransferase 1 (HPRT1) and amyloid precursor protein (APP) genes has been recently suggested. This finding may provide new directions not only for investigating the role of APP in neuropathology associated with HGprt-deficiency in LND but also for the research in neurodevelopmental and neurodegenerative disorders in which the APP gene is involved in the pathogenesis of diseases and may pave the way for new strategies applicable to rational antisense drugs design. It is therefore necessary to study the HGprt enzyme and APP using expression vectors for exploring their impacts on LND as well as other human diseases, especially the ones related to APP such as Alzheimer's disease in which the physiologic function and the structure of the entire APP remain largely unclear until now. For such a purpose, we report here the construction of expression vectors as the first step (Part I) of our investigation."xsd:string |
| http://purl.uniprot.org/citations/32312153 | http://purl.org/dc/terms/identifier | "doi:10.1080/15257770.2020.1714653"xsd:string |
| http://purl.uniprot.org/citations/32312153 | http://purl.uniprot.org/core/author | "Nyhan W.L."xsd:string |
| http://purl.uniprot.org/citations/32312153 | http://purl.uniprot.org/core/author | "Naviaux R.K."xsd:string |
| http://purl.uniprot.org/citations/32312153 | http://purl.uniprot.org/core/author | "Nguyen K.V."xsd:string |
| http://purl.uniprot.org/citations/32312153 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32312153 | http://purl.uniprot.org/core/name | "Nucleosides Nucleotides Nucleic Acids"xsd:string |
| http://purl.uniprot.org/citations/32312153 | http://purl.uniprot.org/core/pages | "905-922"xsd:string |
| http://purl.uniprot.org/citations/32312153 | http://purl.uniprot.org/core/title | "Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP)."xsd:string |
| http://purl.uniprot.org/citations/32312153 | http://purl.uniprot.org/core/volume | "39"xsd:string |
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