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Nguyen KV. Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer. AIMS Neurosci. 2021;8(4):548-557doi: 10.3934/Neuroscience.2021030.
Nguyen, K. V. (2021). Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer. AIMS neuroscience, 8(4), 548-557. https://doi.org/10.3934/Neuroscience.2021030
Nguyen, Khue Vu. "Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer." AIMS neuroscience vol. 8,4 (2021): 548-557. doi: https://doi.org/10.3934/Neuroscience.2021030
Nguyen KV. Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer. AIMS Neurosci. 2021 Oct 28;8(4):548-557. doi: 10.3934/Neuroscience.2021030. eCollection 2021. PMID: 34877405; PMCID: PMC8611187.
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AIMS Neurosci. 2021 Oct 28;8(4):548-557. doi: 10.3934/Neuroscience.2021030. eCollection 2021.

Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer.

AIMS neuroscience

Khue Vu Nguyen

Affiliations

  1. Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California, San Diego, Building CTF, Room C-103, 214 Dickinson Street, San Diego, CA 92103-8467, USA.
  2. Department of Pediatrics, University of California, San Diego, School of Medicine, San Diego, La Jolla, CA 92093-0830, USA.

PMID: 34877405 PMCID: PMC8611187 DOI: 10.3934/Neuroscience.2021030

Abstract

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 (

© 2021 the Author(s), licensee AIMS Press.

Keywords: 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)

Conflict of interest statement

Conflict of interest: The author declares that there are no conflicts of interest.

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