• Tetrahydrobiopterin (BH(4)) deficiencies are a highly heterogeneous group of disorders with several hundred patients, and so far a total of 193 different mutant alleles or molecular lesions identified in the GTP cyclohydrolase I (GTPCH), 6-pyruvoyl-tetrahydropterin synthase (PTPS), sepiapterin reductase (SR), carbinolamine-4a-dehydratase (PCD), or dihydropteridine reductase (DHPR) genes. (qxmd.com)
  • With regard to BH4 deficiencies, more than 190 different mutant alleles or molecular lesions have been identified, including in the genes for guanosine triphosphate cyclohydrolase (GCH), 6-pyruvoyl-tetrahydropterin synthase (PTPS), sepiapterin reductase (SR), carbinolamine-4a-dehydratase (PCD), and dihydropteridine reductase (DHPR). (medscape.com)
  • Mutations in GCH1 are scattered over the entire gene, and only 5 out of 104 mutant alleles, present in a homozygous state, are reported to cause the autosomal recessive form of inheritable hyperphenylalaninemia (HPA) associated with monoamine neurotransmitter deficiency. (qxmd.com)
  • Almost all other 99 different mutant alleles in GCH1 are observed together with a wild-type allele and cause Dopa-responsive dystonia (DRD, Segawa disease) in a dominant fashion with reduced penetrance. (qxmd.com)
  • The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. (origene.com)
  • Lack of sepiapterin reductase activity, an autosomal recessive variant of BH(4) deficiency presenting without HPA, was diagnosed in patients with seven different mutant alleles in the SPR gene in exons 2 or 3 or in intron 2. (qxmd.com)
  • This gene encodes a member of the GTP cyclohydrolase family. (origene.com)
  • Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. (medscape.com)
  • Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. (qxmd.com)
  • Compound heterozygous or homozygous mutations are spread over the entire genes for PTS with 44 mutant alleles, for PCBD with nine mutant alleles, and for QDPR with 29 mutant alleles. (qxmd.com)
  • Background The amplification of GTP cyclohydrolase 1 (pfgch1) in Plasmodium falciparum has been linked to the upregulation of the pfdhfr and pfdhps genes associated with resistance to the antimalarial drug sulfadoxine-pyrimethamine. (tropmedres.ac)
  • No cellular phenotype was evident following infection with ΔbopC or ΔbopE deletion mutants, and the ΔbopACE triple effector mutant was indistinguishable from the ΔbopA single deletion strain. (mirnaarray.com)
  • The present invention is used for inhibiting the activity of an L858R EGFR mutant, a T790M EGFR mutant and an exon 19 deletion activating mutant etc., may be widely applied in preventing and treating cancer, especially non-small cell lung cancer and other related diseases, and is expected to develop into a new generation of EGFR inhibitors. (justia.com)
  • 99 of the 104 mutant alleles are present in a heterozygous state and cause DRD in a dominant fashion with reduced penetrance. (medscape.com)
  • Here, we identified in two different DYT1 mouse strains, heterozygous torsinA knockout mice (Tor1a+/-) and human ΔGAG mutant torsinA transgenic mice (hMT), the anatomical abnormalities in the cerebellum, during a critical age for synaptogenesis (postnatal day 14, P14). (foundationdystoniaresearch.org)
  • The present invention specifically relates to an N-(5-((4-(1-cyclopropyl-1H-indol-3-yl)pyrimidin-2-yl)amino)-2-((2-(dimethylamino)ethyl)(methyl)amino)-4-methoxyphenyl)acrylamide free base or acid salt polycrystalline form, a preparation method therefor, and an application of the polycrystalline form in preparing a drug for treating an EGFR mutant activity-mediated disease. (justia.com)
  • 1. Regulation of GTP cyclohydrolase I gene transcription by basic region leucine zipper transcription factors. (nih.gov)
  • 4. Regulation of gene transcription by a constitutively active mutant of activating transcription factor 2 (ATF2). (nih.gov)
  • 6] Tetrahydrobiopterin and GTP-cyclohydrolase 1 (GTPCH) are important for regulation of beta-adrenergic control of heart rate,[7] and loss of BH4 in the fetal brain decreases neuronal function. (medscape.com)