(Q43170306)

15 November 2017

1 reference

title

Lesch-Nyhan disease: from mechanism to model and back again (English)

1 reference

15 November 2017

0 references

H A Jinnah

1

1 reference

PMC publication ID

2650214

15 November 2017

language of work or name

1 reference

1 March 2009

1 reference

Disease Models & Mechanisms

15 November 2017

1 reference

15 November 2017

2

1 reference

15 November 2017

3-4

1 reference

15 November 2017

116-121

1 reference

Animal models for drug discovery in dystonia

15 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Localization of hypoxanthine-guanine phosphoribosyltransferase mRNA in the mouse brain by in situ hybridization

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Consequences of impaired purine recycling in dopaminergic neurons

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

A human neuronal tissue culture model for Lesch-Nyhan disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Basal ganglia dopamine loss due to defect in purine recycling

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Nifedipine suppresses self-injurious behaviors in animals.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Delineation of the motor disorder of Lesch-Nyhan disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Rodent models for dystonia research: characteristics, evaluation, and utility

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

The mousetrap: what we can learn when the mouse model does not mimic the human disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Abnormal development of hypoxanthine-guanine phosphoribosyltransferase-deficient CNS neuroblastoma

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Calcium channel activation and self-biting in mice

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Presynaptic dopaminergic deficits in Lesch-Nyhan disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Brain purines in a genetic mouse model of Lesch-Nyhan disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Biochemical Evidence of Dysfunction of Brain Neurotransmitters in the Lesch-Nyhan Syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

HPRT-deficient (Lesch-Nyhan) mouse embryos derived from germline colonization by cultured cells

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Pharmacotherapy for self-injurious behavior: preliminary tests of the D1 hypothesis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Amphetamine-induced behavioral phenotype in a hypoxanthine-guanine phosphoribosyltransferase-deficient mouse model of Lesch-Nyhan syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

An error in the code: what can a rare disorder tell us about human behavior?

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Behavioral aspects of Lesch-Nyhan disease and its variants

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

A Golgi study of neuronal architecture in a genetic mouse model for Lesch-Nyhan disease

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Dopamine receptor upregulation in Lesch-Nyhan syndrome: a postmortem study

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Impaired differentiation of HPRT-deficient dopaminergic neurons: a possible mechanism underlying neuronal dysfunction in Lesch-Nyhan syndrome

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome.

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

The neonate-6-hydroxydopamine-lesioned rat: a model for clinical neuroscience and neurobiological principles

15 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2650214

Why isn't a mouse more like a man?

29 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19259384

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Dopamine metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient variants of PC12 cells

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19259384

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Lesch-Nyhan disease and the basal ganglia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19259384

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1242/DMM.002543

1 reference

15 November 2017

1 reference

PMC publication ID

2650214

15 November 2017

PubMed publication ID

19259384

1 reference

PMC publication ID

2650214