Ask about this productRelated genes to: NUMA1 Blocking Peptide
- Gene:
- NUMA1 NIH gene
- Name:
- nuclear mitotic apparatus protein 1
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 11q13.4
- Locus Type:
- gene with protein product
- Date approved:
- 1993-03-05
- Date modifiied:
- 2015-08-17
Related products to: NUMA1 Blocking Peptide
Related articles to: NUMA1 Blocking Peptide
- Polychlorinated biphenyls (PCBs) are persistent environmental contaminants associated with chronic toxicity and neurological dysfunction. PCB 153 is among the most prevalent congeners detected in environmental and dietary matrices. Although transcriptional responses to PCB 153 have been described, its potential association with post-transcriptional regulation remains poorly defined. Here, we performed an exploratory computational RNA-seq splicing analysis of previously generated transcriptomic data from retinoic acid-differentiated SH-SY5Y cells exposed to a sub-cytotoxic concentration of PCB 153. RNA-seq data were analyzed to identify candidate differentially alternative splicing events (DASEs). Candidate events were further examined for retained intron (RI)-related premature termination codons (PTCs), and potential regulatory interactions, including DASE-RNA-binding protein (RBP) motif enrichment. PCB 153 exposure was associated with differential expression of 32 RNA-binding protein (RBP) encoding genes and with 90 candidate DASEs. Disease enrichment analysis indicates that genes affected by candidate splicing alterations overlapped with gene sets annotated to intellectual disability and related neurodevelopmental phenotypes. Among retained intron events, several were predicted to introduce PTCs, suggesting potential effects on transcript stability or coding potential. Motif enrichment analysis identified positional enrichment of motifs corresponding to CELF2, NUMA1, PRPF8, and RBM22 within DASE-associated regions, nominating these RBPs as putative regulators associated with the observed splicing alterations. This computational study identifies candidate PCB 153-associated splicing alterations and RBP-related regulatory hypotheses in a neuron-like in vitro model, suggesting a potential mechanistic link between PCB 153 and neurodevelopmental dysfunction. - Source: PubMed
Publication date: 2026/06/13
Lui MariaMinuti AurelioD'Angiolini SimoneScuruchi MicheleSilvestro SerenaArtimagnella Osvaldo - Skeletal muscle consists of a bundle of thousands of post-mitotic multinucleated cells (i.e., myofibers), in which myonuclei are evenly spaced and positioned at the periphery. This myonuclear positioning shapes myonuclear domain (MND) in myofibers, is essential for the transcriptional integrity of myofibers, is driven by the cytoskeleton and associated proteins and is required for proper myofiber functions. In numerous muscle diseases (i.e., myopathies), alteration of myonuclei localization contributes to myofiber dysfunction, supporting the need to better understand the fundamental mechanisms that regulate myonuclei dynamics in differentiated myofibers. In this study, we show that in Duchenne muscular dystrophy (DMD) myofibers, myonuclei are more dynamic and contribute to the failure in MND settings, suggesting enhanced myonuclear motility impacts myonuclear distribution. To identify new actors in MND settings, we performed a mass spectrometry (MS)-based proteomic analysis to identify microtubule-associated proteins (MAPs) in myotubes/myofibers and performed a siRNA screening on candidates. This approach highlighted NuMA1 as a new factor controlling myoblast fusion and myonuclear positioning through the control of nuclear-microtubule-organizing-center (n-MTOC) integrity and microtubule network orientation. Strikingly, while NuMA1 is restrained to myonuclei in mononucleated myoblasts, it progressively accumulates in the cytoplasm during muscle cell differentiation, preferentially with microtubule (MT) nucleation spots at the vicinity of the nuclear membrane. We identified that AMP Kinase activity has an essential role in NuMA1 nuclear/cytoplasmic accumulation through the specific phosphorylation on serine-1853 and the ability of myonuclei to accumulate NuMA1 is correlated to their motility in myofibers. Finally, we show that nuclear NuMA1 content is increased in DMD patients and mdx mouse model, contributing to more dynamic myonuclei that can be manipulated pharmacologically through the control of AMPK activity. Altogether, our data identifies a novel mechanism by which nuclear sequestration of a MAP allows to couple nuclear positioning and motion to MT organization along skeletal muscle differentiation. - Source: PubMed
Publication date: 2026/06/17
Couturier NathalieCastellano LéaGhasemizadeh AlirezaChristin EmilieSébastien MurielBrun Caroline ECaillol DamienMalleval CélineJanin AlexandreJuban GaëtanOsseni AlexisThomas Jean-LucKoenig StéphaneBrunetti JessicaKraut AlexandraCouté YohannStreichenberger NathalieMounier RémiGache Vincent - This study aimed to identify novel mutations associated with the progression of gastric cancer by establishing patient-derived xenograft (PDX) models and performing comprehensive genomic characterization of these PDX models and their corresponding primary tumors. - Source: PubMed
Publication date: 2026/01/29
Kong LukeWang JieZheng JunqiYang XihuaSun RuifangKou JiahuiYao YujieLi FengWang FuhuaGuo Sutang - Mammalian oocyte maturation relies on the precise assembly of the acentrosomal spindle, and its disruption causes aneuploidy and developmental failure. Symplekin (SYMPK), a 3'-end processing scaffold with emerging functions in regulating chromosome dynamics, remains unexplored in oocytes. Here, we investigate whether SYMPK governs spindle dynamics and chromosome fidelity during meiotic maturation. We find SYMPK dynamically tracks spindle microtubules during oocyte maturation following germinal vesicle breakdown (GVBD). By generating oocyte-specific Sympk knockout mice, loss of SYMPK in oocytes yields complete female infertility and impaired oocyte quality. Sympk-deficient oocytes show a predominant metaphase I (MI) arrest, accompanied by disorganized spindle architecture and destabilized kinetochore-microtubule attachments. Furthermore, chromosome spreads indicate persistent spindle assembly checkpoint (SAC) activation, and pharmacologic SAC inhibition can partially restore meiotic progression but not spindle integrity in SYMPK-deficient oocytes. Mechanistically, immunoprecipitation-mass spectrometry in MI oocytes reveals that SYMPK interacts with the spindle regulators KIF20A and NUMA1, and is required for their proper localization to the spindle. Collectively, these findings establish that SYMPK supports KIF20A and NUMA1 to coordinate acentrosomal spindle organization, thereby safeguarding oocyte meiotic maturation and ensuring faithful female meiotic progression. - Source: PubMed
Publication date: 2026/01/09
Chen BeiZhou MofanWang JiaqiXiao JinxinChen YirongWang JinyingHe WenlinSong TianbaoLuo JinXie QingzhenLiu Cong - Lymph node (LN) metastasis is a strong predictor of tumor recurrence following pancreatectomy for localized pancreatic neuroendocrine tumors (PanNETs). However, most patients lack LN metastasis and many tumors recur. Tools to guide risk-adapted surveillance in this group are lacking. - Source: PubMed
Ventin MarcoArya ShahrzadZhang LitiGangi AlexandraFernandez Del-Castillo CarlosQadan MotazHendifar Andrew ECattaneo GiuliaLiguori LuigiOsipov ArsenSabbatino FrancescoNissen Nicholas NKosari KambizLillemoe Keith DWei Alice CHe JinZureikat Amer HFerrone Cristina R