Ask about this productRelated genes to: PUF60 antibody
- Gene:
- PUF60 NIH gene
- Name:
- poly(U) binding splicing factor 60
- Previous symbol:
- -
- Synonyms:
- FIR, SIAHBP1, RoBPI
- Chromosome:
- 8q24.3
- Locus Type:
- gene with protein product
- Date approved:
- 2007-07-27
- Date modifiied:
- 2016-06-22
Related products to: PUF60 antibody
Related articles to: PUF60 antibody
- mRNA splicing represents a fundamental level of gene regulation that alters proteomic diversity and cellular state. Its dysfunction can profoundly rewire metabolism, yet underlying mechanisms remain elusive. Here, we investigate Verheij syndrome, caused by mutations in core splicing factor PUF60, using a Caenorhabditis elegans model, human cell lines, and patient-derived samples. We demonstrate that RNP-6/PUF60 deficiency disrupts splicing of genes governing one-carbon metabolism and phospholipid remodeling, impairing S-adenosylmethionine/S-adenosylhomocysteine cycling and phosphatidylcholine synthesis. These perturbations trigger the integrated stress response and compromise mTORC1 signaling, causing developmental growth defects. Vitamin B supplementation restores metabolic balance by reactivating S-adenosylmethionine-dependent phospholipid remodeling and mTORC1 activity, effectively rescuing Verheij-like phenotypes. Similar responses arise from perturbing another splicing factor, PRP-19. Mechanistically, intron retention of nhr-114/HNF4 transcription factor drives these phenotypes, while restoring its splicing rescues them. Our findings implicate vitamin B-dependent one-carbon metabolism as a metabolic modulator with therapeutic potential to mitigate Verheij syndrome and other spliceosomopathies. - Source: PubMed
Publication date: 2026/08/07
Kölschbach JonathanDafsari Hormos SBaum EmilyLöhrke AnnaKew ChunDikic IvanHuang WenmingAntebi Adam
- Source: PubMed
- Pyruvate kinase M (PKM) catalyzes the conversion of phosphoenolpyruvate to pyruvate in glycolysis and exists as two splice isoforms, PKM1 and PKM2, generated from alternative splicing of mutually exclusive exons 9 or 10, respectively. The expression balance between PKM1 and PKM2 is tightly regulated in a cell-type-specific manner. PKM1 is predominantly expressed in tissues such as skeletal muscle, heart, and brain, whereas PKM2 is prevalent in most other tissues and various cancer cells. Despite its importance, the trans-acting factors promoting exon 9 selection in a tissue-specific context remain largely unknown. Here, using a multi-color splicing reporter system for cell-based cDNA screening, we identified PUF60 as a novel -acting factor that promotes PKM1-type splicing. We also demonstrated that PUF60 induction and the resulting splicing switch are essential for myotube formation during C2C12 differentiation. This study establishes PUF60 as a critical regulator of muscle-specific splicing and provides new insights into the fundamental mechanisms governing skeletal muscle differentiation. - Source: PubMed
Publication date: 2026/07/14
Masaki SoNojima TakayukiOshiro-Ideue TakakoSuenaga AsamiTakeuchi AkihideKii IsaoSuzuki KenjiTanaka SatoshiHagiwara MasatoshiKataoka Naoyuki - - Source: PubMed
Publication date: 2026/05/13
Xiang DanYang JiaxinXiao MiaofangLong CongLin YangxuanMao ChenchenLiu XinMei DianfengXie WangkaiHan ZhengChen ChenbinLin XiaomingShen XianXue XiangyangChen Tanzhou - To evaluate the clinical performance of particle-based multi-analyte technology (PMAT) for the detection of systemic sclerosis (SSc)-associated autoantibodies and to explore correlations between antibody profiles and disease manifestations. - Source: PubMed
Publication date: 2026/04/20
Pérez-Isidro AlbertLledó-Ibañez Gema-MariaPrieto-González SergioHernández-González FernandaAndalucia CarmenAure Mary AnnMelus CarlosDe Moner NoemiViñas OdetteEspinosa GerardRuiz-Ortiz Estíbaliz