Ask about this productRelated genes to: TIMM17B antibody
- Gene:
- TIMM17B NIH gene
- Name:
- translocase of inner mitochondrial membrane 17B
- Previous symbol:
- -
- Synonyms:
- DXS9822, JM3
- Chromosome:
- Xp11.23
- Locus Type:
- gene with protein product
- Date approved:
- 2002-01-15
- Date modifiied:
- 2017-01-18
Related products to: TIMM17B antibody
Related articles to: TIMM17B antibody
- The competing endogenous RNA hypothesis offers new insights into tumour progression, yet its role in posttreatment nasopharyngeal carcinoma relapse remains unclear. This study constructed ceRNA networks to identify molecular markers associated with NPC relapse. Three pairs of primary and relapse NPC tissue samples, along with their matched adjacent tissues, were collected for the RNA and miRNA sequencing, screened and identified relapse-related specific differentially expressed genes. We identified relapse-specific differentially expressed genes and functional analyses revealed enrichment in translation, biosynthesis, metabolism, TCA cycle, cell cycle, p53 signalling and immune pathways. Then these relapse-associated differentially expressed mRNAs, lncRNAs, and miRNAs were utilised to construct regulatory networks, resulting in a ceRNA network comprising 813 mRNAs, 143 lncRNAs, and 24 miRNAs, along with a survival-associated subnetwork of 23 mRNAs. Key mRNAs, such as UBC, PLA2R1, PTPRO, SMC5, PFN2, TIMM17B, NT5E and PCSK5, were validated via qPCR in NPC cell lines and tissues. To our knowledge, this is the first study to construct a comprehensive ceRNA network specifically for posttreatment recurrent NPC. These findings highlight the ceRNA network as a valuable framework for elucidating the mechanisms of NPC relapse and for identifying potential biomarkers for prognosis and therapeutic targets in recurrent nasopharyngeal carcinoma. - Source: PubMed
Liu QihongLu JingxiaoWang ZhiqiangLi QingmingWu JianhuiLyu KexingMiao BeipingLei WenbinNie GuohuiFan Xiaoqin - Renpenning syndrome is a rare X-linked genetic disorder caused by variants in the PQBP1 gene, but the information about its prenatal presentation is very limited. A 35-year-old woman experienced two male pregnancies with thickened nuchal translucency (NT) (5.5 mm and 5 mm). She went to our prenatal diagnosis center for the current natural conception during the second pregnancy. Trio-whole exome sequencing (TrioWES) of chorionic villus biopsy revealed a 666-bp genetic deletion (chrX:48755195-49760422) in the fetus, inherited from the mother, which included and . The couple opted for termination of pregnancy. During the third pregnancy, systematic fetal screening was performed in early pregnancy. An ultrasound examination at 12+1 weeks revealed a thickened NT (6.5 mm), nasal bones abnormalities and a cleft palate. Ultrasound examination at 16 weeks showed ventricular septal defect (VSD), and mild enlargement of the lateral ventricles in the fetus. Chorionic villus biopsy samples were tested for Multiplex Ligation-dependent Probe Amplification (MLPA), showing a 666-bp genetic deletion, inherited from the mother. The couple opted for termination of pregnancy, and the male fetus had a sunken nose and cup-shaped ears leading to a diagnosis of Renpenning syndrome. In conclusion, this emphasized the importance of early systematic pregnancy screening. Increased NT in the first trimester, especially when present in conjunction with ultrasound structural abnormalities such as nasal bone abnormalities, VSD, and mild bilateral ventriculomegaly, emphasized the importance of genetic testing, including chromosome testing, genomic testing, and Whole-exome sequencing. - Source: PubMed
Publication date: 2025/07/21
Shen YongmeiZhang LeiLi YaqiYao LiyingCao JiasongLin QimeiNie MaolinWang HefeiWei RongxinChang Ying - Most mitochondrial proteins are imported through the actions of the presequence translocase of the inner membrane, the TIM23 complex, which requires energy in the form of the electrochemical potential of the inner membrane and ATP. Conversions of energy in mitochondria are disturbed in mitochondrial disorders that affect oxidative phosphorylation. Despite the widely accepted dependence of protein import into mitochondria on mitochondrial bioenergetics, effects of mitochondrial disorders on biogenesis of the mitochondrial proteome are poorly characterized. Here, we describe molecular tools that can be used to explore mitochondrial protein import in intact cells, the mitoRUSH assay, and a novel method based on labeling of nascent proteins with an amino acid analog and click chemistry. Using these orthogonal approaches, we discovered that defects in the electron transport chain and manipulating the expression of TIMM23, as well as the TIMM17A or TIMM17B paralogs, in human cells are associated with a decrease in protein import into mitochondria. We postulate that in the absence of a functional electron transfer chain, the mechanisms that support electrochemical potential of the inner membrane and ATP production are insufficient to sustain the import of proteins to mitochondria. - Source: PubMed
Publication date: 2025/07/09
Wasilewski MichalMohanraj KarthikZakrzewski MaciejSerwa Remigiusz AChacinska Agnieszka - Mitochondrial proteins are transported and sorted to the matrix or inner mitochondrial membrane by the presequence translocase TIM23. In yeast, this essential and highly conserved machinery is composed of the core subunits Tim23 and Tim17. The architecture, assembly, and regulation of the human TIM23 complex are poorly characterized. The human genome encodes two paralogs, TIMM17A and TIMM17B. Here, we describe an unexpected role of the ovarian cancer immunoreactive antigen domain-containing protein 1 (OCIAD1) and the prohibitin complex in the biogenesis of human TIM23. Prohibitins were required to stabilize both the TIMM17A- and TIMM17B-containing variants of the translocase. Interestingly, OCIAD1 assembled with the prohibitin complex to protect the TIMM17A variant from degradation by the YME1L protease. The expression of OCIAD1 was in turn regulated by the status of the TIM23 complex. We postulate that OCIAD1 together with prohibitins constitute a regulatory axis that differentially regulates variants of human TIM23. - Source: PubMed
Publication date: 2024/12/03
Elancheliyan PraveenrajMaruszczak Klaudia KSerwa Remigiusz AdamStephan TillGulgec Ahmet SadikBorrero-Landazabal Mayra ANgati SoniaGosk AleksandraJakobs StefanWasilewski MichalChacinska Agnieszka - Ascending Thoracic Aortic Aneurysm (ATAA) is a progressive dilation of the aorta that can be complicated by its dissection leading to death in 80-90% of the patients. When associated with aging and atherosclerosis, the outcome is worse and reconstructive surgery is the only effective therapy. Our objective was to characterize differential expressed genes (DEG) involved in endoplasmic reticulum (ER) and mitochondria dysfunction in patients with degenerative ATAA. - Source: PubMed
Publication date: 2024/10/18
Almendra-Pegueros RafaelBarros-Membrilla Antonio JPérez-Marlasca ElviraJulve JosepMartinez-González JoséRodriguez CristinaGalán María