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

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia

2 Jun 2009

Abstract excerpt

Dopa-responsive dystonia is a childhood-onset dystonic disorder, characterized by a dramatic response to low dose of L-Dopa. Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely by autosomal recessive mutations in the TH (tyrosine hydroxylase) or SPR (sepiapterin reductase) genes. In addition, mutations in the PARK2 gene (parkin) which...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Neurodegenerative Diseases
Share to Metabolism and Genetic Disorders
Share to Neurological disorders and treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 19491146
DOI: 10.1093/brain/awp084

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystoniaPMID 19491146Read ↗

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.Semantic proximity Read ↗

Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.Semantic proximity Read ↗

Crucial neuroprotective roles of the metabolite BH4 in dopaminergic neuronsSemantic proximity Read ↗

A novel tyrosine hydroxylase variant in a group of Chinese patients with dopa-responsive dystonia.Semantic proximity Read ↗

Dystonia-plus syndromes.Semantic proximity Read ↗

Genetic diagnosis of two dopa-responsive dystonia families by exome sequencing.Semantic proximity Read ↗

Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.Semantic proximity Read ↗

Genetic and clinical profile of a Brazilian cohort of dopa-responsive dystonia.Semantic proximity Read ↗

Mutations of GCH1 in Dopa-responsive dystonia.Semantic proximity Read ↗

GCH1 mutations are common in Serbian patients with dystonia-parkinsonism: Challenging previously reported prevalence rates of DOPA-responsive dystonia.Semantic proximity Read ↗

A case of dopa-responsive dystonia with a novel GCH1 variant c.579 C > G (p.Ile193Met).Semantic proximity Read ↗

Genetic and pharmacological correction of aberrant dopamine synthesis using patient iPSCs with BH4 metabolism disorders.Semantic proximity Read ↗

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