Ask about this productRelated genes to: TRIT1 antibody
- Gene:
- TRIT1 NIH gene
- Name:
- tRNA isopentenyltransferase 1
- Previous symbol:
- -
- Synonyms:
- FLJ20061, IPT
- Chromosome:
- 1p34.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-01-15
- Date modifiied:
- 2017-12-15
Related products to: TRIT1 antibody
Related articles to: TRIT1 antibody
- Combined oxidative phosphorylation deficiency 35 (COXPD35) is an extremely rare mitochondrial disorder inherited in an autosomal recessive pattern. It results from pathogenic variants in the TRIT1 gene, leading to hypomodified cytosolic and mitochondrial tRNAs. We report the first identified case of COXPD35 in Palestine, resulting from 2 novel variants of the TRIT1 gene. - Source: PubMed
Doudin Ali A AOmran Weam N IAlkomi Saja MRjoub AhmadShoubaki HamzaAbu Mufreh Shurooq Tayseer - Global developmental delay (GDD) and intellectual disability (ID) affect up to 3% of the paediatric population, with a multifactorial aetiology that complicates genetic identification. To date, over 400 genes have been implicated in GDD. Here, we report a novel homozygous splice acceptor variant, NC_000001.11(NM_017646.6):c.1235-3C>G, in the TRIT1 gene, classified as 'likely pathogenic' through bioinformatics analysis. The proband, a 5-year-old male from a consanguineous family, presented with severe GDD, microcephaly, progressive spasticity, contractures, dysmorphic features (low-set ears, high-arched palate, simian creases and hypospadias), and refractory seizures (focal motor clonic, generalized myoclonic, and tonic) since 6 months of age. Brain MRI revealed nonspecific atrophy, while metabolic, laboratory and electrophysiological evaluations were unremarkable. To further assess the variant's frequency, we screened 430 healthy individuals from the same ethnic group and found no occurrences of the variant. Notably, this variant has not been documented in any published population databases, including gnomAD, the 1000 Genomes Project, Genome Asia, GME Variome and Iranome, despite coverage of the locus in these databases. Taken together, these findings strongly support the potential pathogenicity of the variant. In addition, the prenatal diagnosis results from the subsequent pregnancy in this family showed that the embryo was heterozygous for the mutation. The baby was born, and follow-up studies indicated that she was healthy, with no clinical manifestations observed in her affected brother. This further supports the classification of the variant as 'likely pathogenic.' This study expands the phenotypic spectrum of TRIT1-related disorders. - Source: PubMed
Beyad FatemehBonyadi MortazaBarzegar Mohammad - Ferroptosis has emerged as a promising therapeutic approach for hepatocellular carcinoma (HCC). To evade ferroptosis, HCC cells depend on the glutathione/GPX4 and CoQ10/FSP1 antioxidant systems. The mevalonate pathway enzyme mevalonate diphosphate decarboxylase (MVD) generates isopentenyl pyrophosphate (IPP), which supports both selenocysteine-tRNA modification and CoQ10 biosynthesis. Here, we investigated the role of the mevalonate pathway in HCC and explored novel vulnerabilities for therapeutic targeting. - Source: PubMed
Publication date: 2025/07/11
Chen YilingLee DerekKwan Kenneth Kin-LeungWu MengjieWang GengchaoZhang Misty ShuoDeng HaijingCheu Jacinth Wing-SumLau Mandy Ho-YingChan Cerise Yuen-KiOoi Zher YeeWu YibingBao Macus Hao-RanLo Regina Cheuk-LamNg Irene Oi-LinWong Chun-MingWong Carmen Chak-Lui - TRIT1 is identified as a potential tumor suppressor gene that may be involved in tumor development. Existing research indicates that TRIT1 is significant in the development of certain cancers. However, its specific role in liver cancer remains elusive. - Source: PubMed
Publication date: 2025/05/05
Niu XinyuPan XiaonaHe GuifangXuan ChaoTian QingwuYuan YuanChen JingqiuSong YaqiTang YujuanZhou Tingting - Bulb physiological dormancy significantly limits the development and utilization of Cardiocrinum giganteum (Wall.) Makino, a valuable medicinal, edible and ornamental plant. In the current study, to break the dormancy and reveal its mechanism, metabolome and transcriptome analyses using bulbs stored at 4°C for 0, 30, and 60 days (d) were conducted. Results revealed that bulb dormancy release and development were linked to hormones such as ABA, IAA, GA and ZR, as well as sucrose and starch. Total soluble sugars initially increased and then decreased within 60 days of low temperature treatment, contrary to the behaviour of starch content. Dormancy release predominantly relied on GA accumulation and ABA degradation. Additionally, genes involved in carbohydrate metabolism, including HK, SPS, BGLU, and SuSy, were up-regulated in the later stage. The energy production during carbohydrate metabolism mainly depended on the tricarboxylic acid cycle and glycolysis pathway. Hormone-mediated regulation and hormone signal transduction metabolism pathways were also obviously changed. Co-expression analysis indicated that key genes, such as NCED, PP2C and DELLA, related to the ABA signal transduction pathway, and GA2ox, ARF and SAUR, related to the IAA and GA signal transduction pathway, played a crucial role in dormancy release. Moreover, ZR signal transduction genes such as CRE, ARR-B, ARR-A and TRIT1 involved in cell division were up-regulated in bulbs treated at 4°C for 30 or 60 d. This study provides evidence for understanding the molecular mechanism underlying bulb dormancy release and is a guide for industry development and utilization of Cardiocrinum giganteum (Wall.) Makino. - Source: PubMed
Li RongchenCai ZianHuang XiaoluLiao JianmingHuang LiyunLiu DanZhao ZhihengChen YuzhenLu Cunfu