Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Human neural stem cells: a model system for the study of Lesch–Nyhan disease neurological aspects

16 Feb 2010

Abstract excerpt

The study of Lesch-Nyhan-diseased (LND) human brain is crucial for understanding how mutant hypoxanthine-phosphoribosyltransferase (HPRT) might lead to neuronal dysfunction. Since LND is a rare, inherited disorder caused by a deficiency of the enzyme HPRT, human neural stem cells (hNSCs) that carry this mutation are a precious source for delineating the consequences of HPRT deficiency and for developing new...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Biochemical and Molecular Research
Share to Neurogenetic and Muscular Disorders Research
Share to Trypanosoma species research and implications

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 20159777
DOI: 10.1093/hmg/ddq072

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human neural stem cells: a model system for the study of Lesch–Nyhan disease neurological aspectsPMID 20159777Read ↗

Deficiency of the Housekeeping Gene Hypoxanthine–Guanine Phosphoribosyltransferase (HPRT) Dysregulates NeurogenesisSemantic proximity Read ↗

The Housekeeping Gene Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Regulates Multiple Developmental and Metabolic Pathways of Murine Embryonic Stem Cell Neuronal DifferentiationSemantic proximity Read ↗

Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesisSemantic proximity Read ↗

HGprt deficiency disrupts dopaminergic circuit development in a genetic mouse model of Lesch–Nyhan diseaseSemantic proximity Read ↗

A human neuronal tissue culture model for Lesch-Nyhan disease.Semantic proximity Read ↗

Molecular Diversity of Midbrain Development in Mouse, Human, and Stem CellsSemantic proximity Read ↗

Enhanced Production of Mesencephalic Dopaminergic Neurons from Lineage-Restricted Human Undifferentiated Stem CellsSemantic proximity Read ↗

Characterization of the dopamine defect in primary cultures of dopaminergic neurons from hypoxanthine phosphoribosyltransferase knockout mice.Semantic proximity Read ↗

Purinergic signaling in human pluripotent stem cells is regulated by the housekeeping gene encoding hypoxanthine guanine phosphoribosyltransferaseSemantic proximity Read ↗

Neural Differentiation of Human Pluripotent Stem Cells for Nontherapeutic Applications: Toxicology, Pharmacology, andIn VitroDisease ModelingSemantic proximity Read ↗

Specification of a dopaminergic phenotype from adult human mesenchymal stem cells.Semantic proximity Read ↗

Rapid, complete and large-scale generation of post-mitotic neurons from the human LUHMES cell line.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.