Lesch-Nyhan disease: I. Construction of expression vectors for hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme and amyloid precursor protein (APP).
APP gene
HEK 293 cells
HGprt enzyme
HPRT1 gene
Lesch-Nyhan disease
antisense drugs
epigenetics
epistasis
expression vectors
mutation
Journal
Nucleosides, nucleotides & nucleic acids
ISSN: 1532-2335
Titre abrégé: Nucleosides Nucleotides Nucleic Acids
Pays: United States
ID NLM: 100892832
Informations de publication
Date de publication:
2020
2020
Historique:
pubmed:
22
4
2020
medline:
19
12
2020
entrez:
22
4
2020
Statut:
ppublish
Résumé
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 (
Identifiants
pubmed: 32312153
doi: 10.1080/15257770.2020.1714653
doi:
Substances chimiques
Amyloid beta-Protein Precursor
0
Purines
0
Reduced Folate Carrier Protein
0
SLC19A1 protein, human
0
Hypoxanthine Phosphoribosyltransferase
EC 2.4.2.8
purine
W60KTZ3IZY
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM