New personalized genetic mouse model of Lesch-Nyhan syndrome for pharmacology and gene therapy [PDF]
Research Results in Pharmacology, 2018 Introduction: Lesch-Nyhan syndrome is a clinical and laboratory disorder caused by X-linked disruption of the purine metabolism. The deletion in the HPRT1 gene leads to the disappearance of valine in the eighth position of the protein amino acid sequence.
Vladislav Kalmykov +8 more
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Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series [PDF]
DiagnosticsBackground: Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the HPRT1 gene, resulting in hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency.
Hung-Hsiang Fang +9 more
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Lesch-nyhan syndrome in an Indian child
Indian Journal of Dermatology, 2015 Hypoxanthine guanine phosphoribosyl transferase-1 (HGPRT-1) leading to Lesch-Nyhan syndrome (LNS) is one of the important causes of self-mutilation.
Priyanka Chandekar +3 more
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Guanine is an inhibitor of c-jun terminal kinases [PDF]
Scientific ReportsThe toxicity of purine bases adenine and guanine is mostly recognized when associated with inborn errors of purine metabolism such as Lesch-Nyhan syndrome, and metabolic diseases with a lifestyle component including gout.
Jessica Treeby +10 more
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Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay [PDF]
Frontiers in GeneticsLesch-Nyhan syndrome (LNS, OMIM #300322) is a rare X-linked genetic disorder caused by variants in the HPRT1 gene, which codes for the Hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Haoyang Zheng +24 more
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Striatal neurodevelopment is dysregulated in purine metabolism deficiency and impacts DARPP-32, BDNF/TrkB expression and signaling: new insights on the molecular and cellular basis of Lesch-Nyhan Syndrome. [PDF]
PLoS ONE, 2014 Lesch-Nyhan Syndrome (LNS) is a neurodevelopmental disorder caused by mutations in the gene encoding the purine metabolic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Ghiabe-Henri Guibinga +2 more
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Epigenetic modulation of human neurobiological disorders: Lesch-Nyhan disease as a model disorder [PDF]
AIMS NeuroscienceEpigenetics is the study of how cells control gene activity without changing the DNA sequence. Epigenetic changes affect how genes are turned on and off or expressed, and thus help regulate how cells in different parts of the body use the same genetic ...
Khue Vu Nguyen
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Anaesthetic management of a child with Lesch Nyhan syndrome
Indian Journal of Anaesthesia, 2019 Shraya Banerjee +3 more
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Journal of Pediatric Rehabilitation Medicine, 2021 Lesch-Nyhan syndrome is a genetic metabolic disorder often involving dystonia and self-mutilating behavior. This case report describes a 13-year-old boy with Lesch-Nyhan syndrome and self-mutilating behavior who received botulinum toxin injections to his
Courtney Gilbert +2 more
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Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females [PDF]
Arquivos de Neuro-Psiquiatria, 1999 The mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were ...
PATRICK O'NEILL +10 more
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