Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer.
APP gene
COVID-19
Lesch-Nyhan disease
alternative splicing
antisense drugs
cancer
epigenetics
epistasis
hypoxanthine phosphoribosyltransferase 1 (HPRT1) gene
hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme
thrombosis
β-amyloid precursor protein (APP)
Journal
AIMS neuroscience
ISSN: 2373-7972
Titre abrégé: AIMS Neurosci
Pays: United States
ID NLM: 101665668
Informations de publication
Date de publication:
2021
2021
Historique:
received:
23
06
2021
accepted:
25
10
2021
entrez:
8
12
2021
pubmed:
9
12
2021
medline:
9
12
2021
Statut:
epublish
Résumé
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorders of purine metabolic in which the cytoplasmic enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. Despite having been characterized over 60 years ago, however, up to now, there is no satisfactory explanation of how deficits in enzyme HGprt can lead to LND with the development of the persistent and severe self-injurious behavior. Recently, a role for epistasis between the mutated hypoxanthine phosphoribosyltransferase 1 (
Identifiants
pubmed: 34877405
doi: 10.3934/Neuroscience.2021030
pii: neurosci-08-04-030
pmc: PMC8611187
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
548-557Informations de copyright
© 2021 the Author(s), licensee AIMS Press.
Déclaration de conflit d'intérêts
Conflict of interest: The author declares that there are no conflicts of interest.
Références
Mol Cell Oncol. 2018 Aug 1;5(4):e1481810
pubmed: 30250925
Neuroscience. 2000;98(2):397-401
pubmed: 10854773
Onco Targets Ther. 2017 Mar 30;10:1921-1932
pubmed: 28408844
Biomol Concepts. 2015 Mar;6(1):11-32
pubmed: 25719338
J Exp Clin Cancer Res. 2018 Jul 21;37(1):163
pubmed: 30031396
Neurosci Lett. 2015 Mar 17;590:35-9
pubmed: 25636690
Ann Neurol. 2014 Jul;76(1):95-107
pubmed: 24891139
Hum Mol Genet. 2002 Oct 1;11(20):2463-8
pubmed: 12351582
Mol Neurodegener. 2006 Jul 03;1:5
pubmed: 16930452
Oncotarget. 2016 Apr 12;7(15):19430-44
pubmed: 26840089
Brain Dev. 1992 Nov;14(6):424-5
pubmed: 1492659
Antiviral Res. 2020 Apr;176:104742
pubmed: 32057769
Mol Cell Biol. 1986 Feb;6(2):393-403
pubmed: 3023844
Neurology. 2015 Jan 13;84(2):190-6
pubmed: 25503620
Biochem Biophys Res Commun. 2014 Apr 18;446(4):1091-5
pubmed: 24680827
J Neurosci. 2009 Apr 29;29(17):5666-70
pubmed: 19403832
Am J Hum Genet. 1977 May;29(3):304-11
pubmed: 868879
AIMS Neurosci. 2019 Oct 29;6(4):273-281
pubmed: 32341983
Arch Neurol. 1998 Apr;55(4):547-53
pubmed: 9561984
Brain. 2014 May;137(Pt 5):1282-303
pubmed: 23975452
Science. 1967 Mar 31;155(3770):1682-4
pubmed: 6020292
Intractable Rare Dis Res. 2017 Feb;6(1):65-68
pubmed: 28357186
Nucleosides Nucleotides Nucleic Acids. 2020;39(6):905-922
pubmed: 32312153
Thromb Res. 2017 Jul;155:58-64
pubmed: 28499154
Blood. 2017 Jul 27;130(4):527-536
pubmed: 28611024
Brain Res. 2001 Nov 9;918(1-2):20-7
pubmed: 11684038
Am J Med. 2014 Jul;127(7):e11-2
pubmed: 24530950
Neurosci Lett. 2017 Mar 16;643:52-58
pubmed: 28192196
Annu Rev Genet. 1985;19:127-48
pubmed: 3909940
Am J Hum Genet. 2017 Aug 3;101(2):177-191
pubmed: 28777930
Nucleosides Nucleotides Nucleic Acids. 2021;40(6):665-706
pubmed: 33982646
Lancet Neurol. 2013 Dec;12(12):1151-8
pubmed: 24383089
Hum Mol Genet. 2009 Jul 1;18(13):2317-27
pubmed: 19342420
Cancer Cell Int. 2019 Jan 21;19:19
pubmed: 30679932
Am J Med. 1964 Apr;36:561-70
pubmed: 14142409
Nucleosides Nucleotides Nucleic Acids. 2015;34(10):674-90
pubmed: 26398526
Hum Hered. 2003;56(1-3):73-82
pubmed: 14614241
Med Oncol. 2018 May 5;35(6):89
pubmed: 29730818
Eur J Pharmacol. 2000 Sep 29;405(1-3):277-83
pubmed: 11033334
Prog Neurobiol. 2003 May;70(1):1-32
pubmed: 12927332