دورية أكاديمية
Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).
| العنوان: | Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP). |
|---|---|
| المؤلفون: | Nguyen KV; Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, San Diego, California, USA.; Department of Pediatrics, School of Medicine, University of California, San Diego, California, USA., Naviaux RK; Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, San Diego, California, USA.; Department of Pediatrics, School of Medicine, University of California, San Diego, California, USA.; Department of Pathology, School of Medicine, University of California, San Diego, California, USA., Nyhan WL; Department of Pediatrics, School of Medicine, University of California, San Diego, California, USA. |
| المصدر: | Nucleosides, nucleotides & nucleic acids [Nucleosides Nucleotides Nucleic Acids] 2020; Vol. 39 (6), pp. 905-922. Date of Electronic Publication: 2020 Apr 20. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Taylor & Francis Country of Publication: United States NLM ID: 100892832 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2335 (Electronic) Linking ISSN: 15257770 NLM ISO Abbreviation: Nucleosides Nucleotides Nucleic Acids Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Philadelphia : Taylor & Francis Original Publication: Monticello, NY : Marcel Dekker, c2000- |
| مواضيع طبية MeSH: | Amyloid beta-Protein Precursor/*genetics , Hypoxanthine Phosphoribosyltransferase/*genetics , Lesch-Nyhan Syndrome/*genetics , Lesch-Nyhan Syndrome/*metabolism, Amyloid beta-Protein Precursor/metabolism ; Epigenomics ; Gene Expression Regulation ; HEK293 Cells ; Humans ; Hypoxanthine Phosphoribosyltransferase/metabolism ; Mutation ; Purines/metabolism ; Reduced Folate Carrier Protein/genetics ; Reduced Folate Carrier Protein/metabolism ; Transfection |
| مستخلص: | 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. |
| فهرسة مساهمة: | Keywords: APP gene; HEK 293 cells; HGprt enzyme; HPRT1 gene; Lesch-Nyhan disease; antisense drugs; epigenetics; epistasis; expression vectors; mutation |
| المشرفين على المادة: | 0 (Amyloid beta-Protein Precursor) 0 (Purines) 0 (Reduced Folate Carrier Protein) 0 (SLC19A1 protein, human) EC 2.4.2.8 (Hypoxanthine Phosphoribosyltransferase) W60KTZ3IZY (purine) |
| تواريخ الأحداث: | Date Created: 20200422 Date Completed: 20201218 Latest Revision: 20201218 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1080/15257770.2020.1714653 |
| PMID: | 32312153 |
| قاعدة البيانات: | MEDLINE |
PDF full text from Publisher 
Full Text Finder | تدمد: | 1532-2335 |
|---|---|
| DOI: | 10.1080/15257770.2020.1714653 |