Ask about this productRelated genes to: MDM1 antibody
- Gene:
- MDM1 NIH gene
- Name:
- Mdm1 nuclear protein
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 12q15
- Locus Type:
- gene with protein product
- Date approved:
- 2004-12-20
- Date modifiied:
- 2015-06-19
Related products to: MDM1 antibody
Related articles to: MDM1 antibody
- Membrane lipid composition influences endocytic remodeling of nutrient transporters, yet how lipid metabolism is spatially coordinated to support sustained adaptation to nutrient limitations remains unclear. Here, we investigated whether the ER-vacuole tether Mdm1 links sphingolipid homeostasis to regulation of the high-affinity methionine permease Mup1 in budding yeast. To test this, we examined Mup1 trafficking, amino acid homeostasis, and sphingolipid composition in Δ cells during starvation. We found that loss of Mdm1 causes persistent retention of Mup1 at the plasma membrane, accompanied by reduced intracellular methionine and broad amino acid depletion. Lipidomic analyses revealed decreased sphingoid bases and altered ceramide composition in Δ cells. Importantly, supplementation with the sphingolipid precursor phytosphingosine restored sphingolipid pools, rescued Mup1 endocytosis, and improved amino acid homeostasis. Consistent with a chronic amino acid restriction-like state, Δ cells exhibited extended chronological lifespan. Together, these findings identify Mdm1 as a spatial organizer of sphingolipid metabolism required for adaptive endocytic remodeling of Mup1, thereby linking ER-vacuole contact site function to plasma membrane proteostasis and metabolic adaptation. - Source: PubMed
Publication date: 2026/02/26
Adebayo DanielObaseki EseiwiVasudeva KashviAboumourad MarwaMiller ScottOstermeyer-Fay AnneCanals DanielBao XunLi JingHariri Hanaa - Over 500 genes have been linked to various forms of inherited retinal diseases (IRDs), a class of Mendelian conditions that affect the survival and function of rod and cone photoreceptors and, in most instances, lead to progressive visual loss. Yet some affected individuals still lack a clear genetic diagnosis, suggesting that more disease-associated genes remain to be discovered. Following the genetic analysis of extended cohorts of individuals diagnosed with late-onset recessive retinal dystrophy, we identified bi-allelic combinations of six predicted null variants in MDM1 (now renamed SAXO6, stabilizer of axonemal microtubules 6) in six subjects from five families. Iterative ultrastructure expansion microscopy coupled with immuno-gold transmission electron microscopy revealed co-localization of SAXO6 with distinct ciliary microtubules from the immotile cilium present in rod and cone photoreceptors in human retina, as well as from the motile cilia present in lung epithelial cells. Cross-linking mass spectrometry uncovered an interaction between SAXO6 and α-tubulin, supporting its classification as a microtubule inner protein (MIP). These results link SAXO proteins to Mendelian conditions, highlighting the fundamental role for MIPs in the preservation of long-term retinal function. - Source: PubMed
Publication date: 2026/02/24
Moye Abigail RMcCafferty Caitlyn LLin SiyingHan Ji HoonDudakova LubicaRodenburg KimSzabó ViktóriaNagy Zoltán ZsoltZur DinahVajter MarieKousal BohdanMoulin Alexandre PGraff-Meyer AlexandraRoosing SusanneMahroo Omar AArno GavinWebster Andrew RBen-Yosef TamarLiskova PetraEngel Benjamin DZobor DittaQuinodoz MathieuRivolta Carlo - Mandibular prognathism (Class III malocclusion) is a craniofacial anomaly characterized by an anteriorly positioned mandible, a concave facial profile and impaired mastication, and appears unusually frequently in Dolang sheep (). We combined clinical phenotyping and three-dimensional (3D) genome profiling to investigate this trait in a Dolang sheep flock. We examined 959 animals using standardized criteria, estimated a local prevalence of 10.3%, and assembled a 200 affected/200 unaffected case-control cohort for genomic analyses. As an exploratory pilot study of 3D genome architecture, we generated in situ Hi-C datasets from mandibular bone of two affected and two control sheep. At 40 kb resolution, global topologically associating domain (TAD) organization and boundary strength were broadly conserved between groups, but sliding-window analyses identified a small number of 1 Mb hotspots where affected animals showed increased TAD-boundary density and strengthened insulation. These UNDER-enriched windows lay near genes with plausible roles in craniofacial development, including and a cytokine cluster ( with ). Together, our data indicate that mandibular prognathism in Dolang sheep is associated with localized remodeling of chromatin insulation at a restricted set of gene-proximal loci and highlight candidate regions and mechanisms for integration with whole-genome sequencing, association and transcriptomic data. - Source: PubMed
Publication date: 2025/12/23
Fang ChaoCao HangLiu LinglingLiu Wujun - Heterogeneity of monocyte-derived macrophages (MDMs) is gradually recognized in polyp tissue of chronic rhinosinusitis with nasal polyps (CRSwNP). However, the contributions of MDM subsets for sustaining inflammation remain unclear. This study therefore aimed to characterize MDM subsets in polyp tissues and estimate their functions. We identified MDM subsets in polyp tissues by flow cytometry, and analyzed the correlation between the expression of these subsets and disease severity. We also explored the similarities and differences between tissue MDMs and classical ex vivo polarized MDMs. By using appropriate substitutes for tissue MDMs, we investigated the function of MDMs. MDM1 (linCD44CD64) and MDM3 (linCD44CCR2CD64) were identified in polyp tissues by flow cytometry. Recurrent CRSwNP patients exhibited higher levels of MDM3 compared to non-recurrent patients. This increase in MDM3 was positively correlated with the Lund-Mackay score, the number of infiltrated tissue eosinophils, and IL-5 expression levels. Ex vivo polarized alternatively activated (M2a) macrophage preferentially expressed MDM3 marker genes, which can be used as the substitute for MDM3 within the polyp tissues. M2a macrophages engulfed more Staphylococcus aureus than classically activated (M1) macrophages. However, interferon lambda 1 (IFN-λ1) did not alter the bacterial killing efficiency of M2a macrophages, nor did it affect the activation of reactive oxidase substrate (ROS) and signal transducer and activator of transcription 1 (STAT1) pathway and viability. The increase in MDM3 within polyp tissues, similar to classical M2a macrophages, acted as bacterial reservoirs and contributed to persistent inflammation, offering insights into the underlying mechanisms of CRSwNP. - Source: PubMed
Publication date: 2025/04/12
Zhang YulingYang MengzheLi YanWang ZaichuanZhang ShujianZhao LiminLiu YingyueLi XinyiWang XueLan FengZhang Luo - Identifying biomarkers that predict the efficacy and prognosis of chemoradiotherapy is important for individualized clinical treatment. We previously reported that high murine double minute 1 () expression in patients with rectal cancer is linked to a favorable chemoradiation response. In this study the role of MDM1 in the chemoradiotherapy response in colorectal cancer (CRC) patients was evaluated. - Source: PubMed
Ren NingxinChen HongxiaHuang YingJin JingZhang ShaosenYan RuoqingLi MengjieZheng LinlinZou ShuangmeiLi YexiongTan WenLin Dongxin