Ask about this productRelated genes to: PPP2R5C Blocking Peptide
- Gene:
- PPP2R5C NIH gene
- Name:
- protein phosphatase 2 regulatory subunit B'gamma
- Previous symbol:
- -
- Synonyms:
- B56G, PR61G, B56gamma
- Chromosome:
- 14q32.31
- Locus Type:
- gene with protein product
- Date approved:
- 1996-05-08
- Date modifiied:
- 2017-04-05
Related products to: PPP2R5C Blocking Peptide
Related articles to: PPP2R5C Blocking Peptide
- Infants and children with KMT2A::AFF1+ leukemia have a dismal prognosis and are therefore in urgent need for more efficient and less aggressive therapy. In this study, we investigated three microRNAs that are downregulated in KMT2A::AFF1+ B-cell precursor acute lymphoblastic leukemia (BCP-ALL): miR-194, miR-99b, and miR-125a-5p. When overexpressed, all three microRNAs impaired the survival of KMT2A::AFF1+ leukemic blasts and the maintenance of KMT2A::AFF1+ BCP-ALL. We identified microRNA target genes responsible for this phenotype that are upregulated in KMT2A::AFF1+ BCP-ALL: CA5B, PPP3CA, and PPP2R5C. Importantly, using a drug-repurposing approach, we found that inhibition of CA5B, PPP3CA, and PP2A by acetazolamide, tacrolimus, and LB-100, respectively, showed high toxicity toward KMT2A::AFF1+ leukemic blasts and reduced leukemia burden in vivo. Furthermore, acetazolamide was able to prolong the survival of patient-derived xenotransplant models in combination with infant ALL induction therapy. This study highlights how the unique microRNA expression signature of patients with KMT2A::AFF1+ BCP-ALL can be used to uncover novel therapeutic avenues and accelerate drug repurposing. It also indicates potential new drug combinations for less toxic chemotherapy. - Source: PubMed
Publication date: 2026/04/23
Malouf CamilleDuguid AlasdairVrenken Kirsten SLeah TomMedhi RaginiCamiolo GiuseppinaNitsche LeslieJakobczyk HélèneKotecha Rishi SAnderson Richard ABarrett Neil ASmith Owen PStam Ronald WOttersbach Katrin - Early intervention is the most effective strategy to impede the progression of Alzheimer's disease (AD), depending on the identification of early diagnostic biomarkers. Here, we isolate neuron-derived exosomes (NDEs) from plasma of familial AD (FAD), presymptomatic FAD (pre-FAD), and healthy controls (cognitively normal [CN]), followed by label-free liquid chromatography-tandem mass spectrometry (LC-MS/MS) analysis. A specific peptide from protein phosphatase 2 regulatory subunit B'β (PPP2R5C) shows a progressive decrease from CN to pre-FAD and FAD patients. This decline is further validated in plasma NDEs and brain tissue from amnestic mild cognitive impairment (aMCI) and sporadic AD (SAD) patients. Two independent cohorts confirm the early and differential diagnostic value of plasma PPP2R5C. Immunohistochemistry of Tau Braak-staged brains reveals PPP2R5C reduction preceding Tau hyperphosphorylation. Mechanistically, PPP2R5C interacts with Tau, reducing Tau levels and phosphorylation via unc-51-like kinase 1 (ULK1)-dependent autophagolysosomal activation and PP2A regulation. Our findings suggest that plasma PPP2R5C has the potential to serve as an ideal biomarker for the early diagnosis of AD. - Source: PubMed
Publication date: 2026/02/19
Luo ShilinLiu HuiXiao TingtingLi YunniLiu XixiXiao XuewenLiao XinxinLiu YingziZhou YafangWang Jun-LingGuo JifengTu TianYan XiaoxinTang BeishaZhang ZhentaoJiao BinShen Lu - The epigenome may represent a link between environmental factors and the genome in determining obesity risk. Alterations in the methylation pattern in DNA can affect gene expression. Therefore, the objective of this study was to evaluate global DNA methylation in children who develop obesity, establishing a comparison between them according to birth weight. - Source: PubMed
Publication date: 2025/09/16
Alfaro Juan ManuelVasquez Elsa MaríaRodriguez-Osorio NélidaUrrego Rodrigo - Houge-Janssens syndrome (HJS) is caused by protein phosphatase type 2A (PP2A) dysfunction. The core features are neurodevelopmental delay, especially concerning language, prolonged hypotonia, high risk of seizures, and behavior problems. PP2A oppose the activity of serine/threonine protein kinases, including growth promoting kinases of the PIK3CA/AKT/mTOR and RAS/MAPK pathways. Decreased PP2A activity can thus be growth promoting, as evidenced by recurrent pathogenic de novo missense variants in several PP2A subunits, some of which are associated with macrocephaly if congenital, or cancer if somatic. The current review gives an overview of both the clinical spectrum and known or potential pathogenic mechanisms in Houge-Janssens syndrome. For the latter, a basic insight in PP2A-mediated serine/threonine dephosphorylation is needed, although many fundamental questions regarding PP2A substrate specificity and activity determinants remain currently insufficiently resolved to provide a fully satisfactory molecular explanation of the effect of some mutations. So far, dominant pathogenic variants in at least two B subunits (PPP2R5D in HJS type 1 and PPP2R5C in HJS type 4), the major scaffolding subunit (PPP2R1A in HJS type 2) and the major catalytic subunit (PPP2CA in HJS type 3) can cause Houge-Janssens syndrome. The main aim is to explain why and how the different Houge-Janssens syndrome subtypes biochemically and clinically overlap, providing a framework for understanding new variants and new subtypes that will be found in the future. Hypothetically, small molecules that alleviate substrate blockade by affected B subunits or correct misfolding of affected A subunit, could represent treatment options, but these remain to be found. - Source: PubMed
Publication date: 2025/06/24
Houge Gunnar DouzgosHouge Sofia DouzgouHsieh Tzung-ChienVerbinnen IrisJanssens Veerle - Cutaneous squamous cell carcinoma (SCC) is known for its stepwise progression from healthy skin to premalignant actinic keratosis (AK), followed by a malignant transformation to SCC. Unfortunately, less attention has been paid to changes in gene expression in the tumour microenvironment during this process. We retrospectively selected early-stage cutaneous SCC tissue samples containing both invasive and premalignant portions and conducted a spatial transcriptomic experiment using a NanoString GeoMx Digital Spatial Profiler (DSP). First, we selected invasive and premalignant regions of interest (ROIs) for each tissue. We then compared the gene expression patterns between the two portions (invasive versus premalignant) of the three segments: tumour cells, immune cells and fibroblasts, in each ROI. As a result, early-stage cutaneous SCC tissue samples from 17 patients were selected for this study. We identified 29, 14 and 15 differentially expressed genes (DEGs) between the invasive and premalignant portions of the tumour cells, immune cells and fibroblasts, respectively. The top three genes with the highest absolute log fold-change were CCDC88C, GJD3 and COMP in tumour cells; SVEP1, TSLP and PPP2R5C in immune cells; and SPAG6, PPP1CA and CCDC68 in fibroblasts. Notably, several genes, such as COMP, SVEP1 and SPAG6, have been linked to the development and function of cancer-associated fibroblasts. Functional enrichment analysis revealed that several pathways were altered in tumour and immune cells. In conclusion, distinctive changes in gene expression patterns were observed as AK progressed to SCC. - Source: PubMed
Gim Jeong-AnKim ChungyeulOh Hyun JyungKim Ko EunJeon JiehyunKim AereeBaek Yoo Sang