Diverse mechanisms of post-transcriptional repression by the small RNA regulator of glucose-phosphate stress.
Urbana, United States. In Mol Microbiol, Oct 2015
These new targets, asd, adiY, folE and purR, encode transcription factors or enzymes of diverse metabolic pathways, including aspartate semialdehyde dehydrogenase, arginine decarboxylase gene activator, GTP cyclohydrolase I and a repressor of purine biosynthesis, respectively.
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Houston, United States. In Nat Rev Neurol, Jul 2015
Autosomal dominant GTP cyclohydrolase 1 deficiency, also known as Segawa disease, is the most common and best-characterized condition that manifests as DRD, but a similar presentation can be seen with genetic abnormalities that lead to deficiencies in tyrosine hydroxylase, sepiapterin reductase or other enzymes that are involved in the biosynthesis of dopamine.
Genetics in dystonia.
Lübeck, Germany. In Parkinsonism Relat Disord, 2014
While Hermann Oppenheim probably described the first cases of genetic (DYT1) dystonia in 1911, the 'modern history' of dystonia genetics dates back to 1994 when mutations in the GTP cyclohydrolase I gene were discovered to cause dopa-responsive dystonia.
Monoamine neurotransmitter deficiencies.
Washington, D.C., United States. In Handb Clin Neurol, 2012
The first, autosomal dominantly inherited GTP cyclohydrolase deficiency, has a satisfying response to therapy at any age with benefits maintained over time.