GCH1
- Known as:
- GCH1
- Catalog number:
- Y213989
- Product Quantity:
- 200ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- GCH1
Related genes to: GCH1
- Gene:
- GCH1 NIH gene
- Name:
- GTP cyclohydrolase 1
- Previous symbol:
- GCH, DYT5, DYT14
- Synonyms:
- GTPCH1, DYT5a
- Chromosome:
- 14q22.2
- Locus Type:
- gene with protein product
- Date approved:
- 1988-05-11
- Date modifiied:
- 2016-10-05
Related products to: GCH1
anti-GCH1 (4A12)anti-GCH1 (4A12), Mouse monoclonal to GCH1, Isotype IgG2a, Host Mouseanti-GCH1(4A12)anti-GCH1(4A12) type: Primary antibodies host: MouseAntibodies: GCH1 HOST: Goat Clonality: pAbBovine Guanosine 5-triphosphate Cyclohydrolase1 ELISA , GCH1Bovine Guanosine 5-triphosphate Cyclohydrolase1 ELISA , GCH1Canine Guanosine 5-triphosphate Cyclohydrolase1 ELISA , GCH1Canine Guanosine 5-triphosphate Cyclohydrolase1 ELISA , GCH1Chicken GTP cyclohydrolase 1 (GCH1) ELISA kit, Species Chicken, Sample Type serum, plasmaChicken GTP cyclohydrolase 1(GCH1) ELISA kitChicken GTP cyclohydrolase 1(GCH1) ELISA kit SpeciesChickenChicken Guanosine 5-triphosphate Cyclohydrolase1 ELISA , GCH1Chicken Guanosine 5-triphosphate Cyclohydrolase1 ELISA , GCH1ELISA Kit FOR GTP cyclohydrolase 1; organism: Mouse; gene name: Gch1 Related articles to: GCH1
- Young-onset Parkinson's disease (YOPD), defined by symptom onset at or before 50 years of age, has a strong genetic component. The mutation spectra vary markedly across ethnic groups. However, YOPD among the Hakka, a subgroup of the Han Chinese ethnicity, remains uncharacterized. We investigated the genetic and clinical profiles of YOPD in the Hakka population of western Fujian. - Source: PubMed
Pan Li-YingGuo FangZheng ChongHu Xiao-HongChen Yan-GuiLin Rong-Rong - While genetic testing in Movement Disorders (MD) has expanded enormously, access to genetic testing and genetic counseling remains asymmetric at the global scale. Guidance on efficient testing strategies for clinicians, governments and stakeholders is crucial. - Source: PubMed
Publication date: 2026/05/22
Carvalho VanessaGuedes Leonor CorreiaGatto EmiliaRodriguez-Violante MayelaKlein ChristineRodriguez-Porcel FedericoMorgante FrancescaRossi MalcoMiranda MarceloGanos ChristosRiboldi Giulietta MCesarini MartinDarling AlejandraSkorvanek Matejvan de Warrenburg BartShalash AliCossu GiovanniFriedman JenniferAlbanese AlbertoCardozo AdrianaLohmann KatjaThaler AvnerStamelou MariaSaunders-Pullman RachelMarras ConnieSarva HariniBhatia Kailash PFerreira Joaquim J - : Dystonia is a heterogeneous hyperkinetic movement disorder characterized by sustained or intermittent muscle contractions causing abnormal movements and postures. Although numerous genes associated with dystonia have been identified, the genetic background remains unknown in many patients. Data on genotype-phenotype correlations in Polish populations remain limited. : To analyze the clinical characteristics of patients with generalized dystonia and compare clinical features between individuals with and without genetically confirmed dystonia-causative variants in a Polish cohort. : A retrospective analysis of patients diagnosed with generalized dystonia at a single neurological center was performed. Diagnosis was established according to MDS criteria. Genetic analysis included whole-exome sequencing, targeted NGS genetic panel, MLPA, Sanger sequencing and PCR_RFLP analysis. Clinical and demographic data were extracted from medical records. Clinical characteristics of individuals with and without causative variants were compared. : A total of 113 patients with generalized dystonia were included. Genetic variants were identified in 13 patients (11.5%). These included variants within the , , , , , , , , , and genes. We found detailed clinical data of 46 patients included in the study. Our comparative analysis of patients with causative ( = 7) and without causative variants ( = 39) revealed no statistically significant differences in age of onset, initial symptom localization, treatment response, family history, or associated neurological features. : In this cohort of Polish patients with generalized dystonia, we identified pathogenic variants in approximately 11.5% of cases. No significant clinical differences were observed between patients with genetically confirmed dystonia and those without identified variants. In this study, we report the first two Polish cases with DYT- variants. Further studies are required to reveal the clinical heterogeneity of dystonia and characterize dystonia subtypes. - Source: PubMed
Publication date: 2026/05/21
Milanowski LukaszJurek MartaSalińska AnnaPodwysocka AleksandraFigura MonikaSzlufik StanisławGeremek MaciejNowak JuliaSzczałuba KrzysztofHoffman-Zacharska DorotaKoziorowski Dariusz - Korat chicken (KRC), a slow-growing chicken known for its unique meat flavor and nutritional value, exhibits variation in feed efficiency (FE). Since the hypothalamus acts as a convergent and integrative center for multiple nutrient-related signals, this study aims to compare transcriptomic profiles and neuronal pathways in hypothalamus between two groups of male KRCs differing in residual feed intake (RFI). RNA was extracted from hypothalamic tissues of males KRC either in the low-RFI (n = 10) or in the high-RFI (n = 10) group. The results showed 257 DEGs, including 138 upregulated and 119 downregulated genes in the low RFI compared to the high-RFI groups. Gene Ontology analysis of the DEGs revealed that they were mainly related to metabolic processes and transporter activity. Kyoto Encyclopedia of Genes and Genomes pathway analysis identified 3 significant pathways, including the folate biosynthesis (3 genes including GCH1, TPH2, and TH), tyrosine metabolism (3 genes including DDC, TH and FAH), and tryptophan metabolism (3 genes including DDC, TPH2, and TDO2) pathways. The upregulated genes in the low-RFI group (TPH2, DDC, and TH) were enriched in the folate biosynthesis, tyrosine metabolism, and tryptophan metabolism pathways, which is consistent with the observed plasma concentrations of dopamine (DA) and serotonin/5-hydroxytryptamine (ST/5-HT). These findings suggest that differences in DA and ST/5-HT levels among the chicken groups may be associated with variation in FE. Furthermore, genes such as GCH1, TPH2, DDC, TH, and FAH could be candidate genes supporting the role of hypothalamus in regulating FE of slow-growing KRC. - Source: PubMed
Publication date: 2026/05/08
Sinpru PanpradubJantasaeng OrapinPasri PhocharaponKamkrathok BoonyaritPengsanthia SaknarinPorter Tom EMolee WittawatMolee Amonrat - Ferroptosis, an iron-dependent cell death driven by lipid peroxidation, is a central pathological mechanism unifying diverse skeletal muscle disorders, including atrophy (e.g., sarcopenia, CKD), impaired regeneration, and acute injury. This review synthesizes recent evidence to map a multilayered regulatory network encompassing dysregulated iron/lipid metabolism, collapsed antioxidant defenses (e.g., GPX4, FSP1, GCH1), organelle cross-talk, and complex signaling pathways (e.g., NRF2, p53). Critical translational gaps persist, such as a lack of human validation, insufficient understanding of context-dependent regulation, and challenges in biomarker development. Future directions must prioritize human biomarker discovery, elucidate nonautonomous drivers (e.g., senescent macrophages), evaluate organelle-targeted therapies, and advance biomarker-stratified trials with repurposed drugs (e.g., SGLT2 inhibitors) to enable ferroptosis-targeted precision medicine for muscle diseases. - Source: PubMed
Ji YananQi LeiSun JiachengWang JieShang TongxinSun Hualin