AML1 (Phospho-Ser435) Antibody
- Known as:
- AML1 (Phospho-Ser435) Antibody
- Catalog number:
- 11783
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Signalway
- Gene target:
- AML1 (Phospho-Ser435) Antibody
Related genes to: AML1 (Phospho-Ser435) Antibody
- Gene:
- RUNX1 NIH gene
- Name:
- RUNX family transcription factor 1
- Previous symbol:
- AML1, CBFA2
- Synonyms:
- PEBP2A2, AMLCR1
- Chromosome:
- 21q22.12
- Locus Type:
- gene with protein product
- Date approved:
- 1991-08-20
- Date modifiied:
- 2019-04-23
- Gene:
- RUNX1T1 NIH gene
- Name:
- RUNX1 translocation partner 1
- Previous symbol:
- AML1T1, CBFA2T1
- Synonyms:
- CDR, ETO, MTG8, ZMYND2
- Chromosome:
- 8q21.3
- Locus Type:
- gene with protein product
- Date approved:
- 1993-12-16
- Date modifiied:
- 2016-10-05
Related products to: AML1 (Phospho-Ser435) Antibody
Related articles to: AML1 (Phospho-Ser435) Antibody
- Acute myeloid leukemia (AML) is characterized by uncontrolled malignant clonal proliferation of leukemic cells resulting from the blockade of myeloid hematopoietic stem/progenitor cell differentiation. The disease-causing fusion protein AML1-ETO (also known as RUNX1-ETO or RUNX1-RUNX1T1) and the chemokine (C-X-C motif) receptor 4 (CXCR4) have been recognized as crucial effectors. Strategies targeting each individual factor have been applied to develop new therapeutic approaches; however, clinical demands remain unmet, and much is still unknown about the crosstalk between the two factors. In this study, we utilized a lipid nanoparticle platform to carry AML1-ETO siRNA and the CXCR4 antagonistic peptide E5 (E5-LNP@siAE) to simultaneously deplete the fusion protein and inhibit CXCR4 activation, aiming to elucidate the crosstalk between the two factors and to develop a novel dual-functional therapeutic approach based on lipid nanoparticles. The resulting nanoparticles were investigated in a refractory AML mouse model (AML1-ETO & C-KIT) with a high level of CXCR4 and in the t(8; 21)-positive AML cell line Kasumi-1. It was shown that E5-LNP@siAE effectively achieved RNAi of and antagonism of CXCR4, thereby synergistically inducing effective multi-lineage differentiation, leading to significantly enhanced differentiation-post apoptotic responses of AML cells to homoharringtonine and remarkably prolonged survival in refractory AML mice. - Source: PubMed
Publication date: 2026/05/18
Peng XueluGu RunxiaWang TaoJiang ChuanmeiXing HaiyanMeng JieWen TaoWang JianxiangLiu JianXu Haiyan - Core-binding factor (CBF) acute myeloid leukemia (AML) with t(8;21)(q22;q22)/RUNX1::RUNX1T1 is typically considered as a favorable-risk AML in the context of cytarabine-based intensive chemotherapy. However, in some situations such as additional adverse-risk mutations or cytogenetics, the prognosis and disease course may be more uncertain. Here, we report the case of a young patient diagnosed with CBF-AML and RUNX1::RUNX1T1 fusion gene, carrying a rare and complex three-way t(8;11;21)(q22;q13;q22) translocation, with mutated KIT, ASXL1 and TET2 genes, transforming into an aggressive and multi-refractory mediastinal myeloid sarcoma. This case illustrates that this scarcely reported variant might negatively impact the favorable prognosis of CBF-AML. - Source: PubMed
Publication date: 2026/05/22
Wery Alexandre-RaphaelDalborgo MarieHeimann PierreSidon PierreDewispelaere LaurentPoutakidou DanaiWittnebel SebastianLewalle PhilippeFarhat Hussein - To evaluate the efficacy and safety of avapritinib in children with RUNX1::RUNX1T1-positive acute myeloid leukemia (AML) with KIT mutations. Clinical data on children with RUNX1::RUNX1T1-positive AML with KIT mutations who received avapritinib at the Department of Pediatrics, Peking University People's Hospital, from September 2022 to June 2025 were collected. The overall response rate (ORR), event-free survival (EFS), overall survival (OS), and adverse reactions of avapritinib treatment were retrospectively analyzed. Ten children (6 males, 4 females) with a median age of 6.5 years were enrolled. All carried KIT mutations (D816V, =8; D816H, =1; D816Y, = 1). All children completed ≥1 cycle of avapritinib; 9 received ≥2 cycles, and 6 received ≥3 cycles. After cycle 1, the ORR was 80% (8/10), with 5 children achieving ≥1 log reduction in RUNX1::RUNX1T1. The ORR was 78% (7/9) after cycle 2 and 67% (4/6) after cycle 3. With a median follow-up of 10 months, the EFS rate were 90%, and the OS rate was 100%. During avapritinib treatment, 5 of the 10 children showed elevated levels of the RUNX1::RUNX1T1. During combination avapritinib and chemotherapy, adverse events were largely attributable to chemotherapy, manifesting as hematological adverse reactions, gastrointestinal reactions, and infections, all of which improved after symptomatic treatment. When avapritinib was used alone or with interferon, toxicity was mainly associated with grade 1-2 hematological adverse reactions; one case developed convulsions and improved after drug withdrawal and symptomatic treatment. Avapritinib provides a favorable initial response in children with RUNX1::RUNX1T1-positive AML harboring KIT mutations, enabling deeper molecular remission; however, response rates decline with prolonged treatment. Avapritinib has a favorable safety profile. - Source: PubMed
Zheng F YDing M MLu A DJia Y PZeng H MZhang L P - Skraban-Deardorff syndrome, a rare neurodevelopmental disorder caused by WD repeat domain 26 (WDR26) haploinsufficiency, is characterized by intellectual disability, seizures, autistic-like behaviors, and craniofacial anomalies. Despite its genetic association with variants disrupting the C-terminal to LisH (CTLH) E3 ubiquitin ligase complex, the molecular mechanisms linking WDR26 dysfunction to neurodevelopmental deficits remain unclear. Here, we demonstrate that Wdr26 heterozygous-KO mice (Wdr26+/-) recapitulated core clinical features of the syndrome, including learning and memory impairments, social dysfunction, heightened seizure susceptibility, and motor deficits, alongside rare craniofacial and dental abnormalities. Mechanistically, Wdr26 haploinsufficiency stabilized RUNX1 translocation partner 1 (RUNX1T1), a transcriptional coactivator critical for neuronal differentiation, by impairing its ubiquitination and proteasomal degradation, consequently disrupting the level of microtubule-associated protein 2 (MAP2), a key regulator of dendritic architecture and synaptic plasticity. Early intervention in neonatal Wdr26+/- mice (P0.5) using AAV-shRNA-mediated Runx1t1 knockdown reversed MAP2 overexpression and behavioral deficits. Notably, the antipsychotic risperidone ameliorated cognitive and social impairments in Wdr26+/- mice by upregulating WDR26 levels, suggesting a potential therapeutic avenue. Our findings not only establish the animal model as a robust preclinical tool but also define the WDR26/RUNX1T1/MAP2 regulatory axis as pivotal to the syndrome's pathogenesis, while identifying actionable therapeutic targets. - Source: PubMed
Publication date: 2026/05/15
Xu XingyunZhou YaohuiXu ShiyaoZhou HongjieLin XuexiaLuo YuhaoXu YuMiao ZhigangGe WeiYang HaoXu Xingshun - KIT mutations are recurrent genetic alterations in myeloid neoplasms (MNs), with the D816 hot-spot variant recognized as a poor prognostic marker in acute myeloid leukemia (AML) with RUNX1::RUNX1T1 and as a diagnostic criterion for systemic mastocytosis (SM). In contrast, the clinical and biological relevance of KIT mutations outside codon 816 remains insufficiently characterized. We retrospectively analyzed 40 MNs with pathogenic KIT mutations, comparing 26 cases harboring D816 variants to 14 cases with non-D816 changes. Clinicopathologic features, cytogenetics, molecular profiles, immunohistochemical data, and survival outcomes were evaluated. The two groups showed similar distributions of MN subtypes and cytogenetic abnormalities. However, the non-D816 group exhibited significantly lower mast-cell burden by CD117 immunohistochemistry and no cases of SM, whereas 31% of D816 cases showed concurrent or subsequent SM. D816 cases displayed more complex co-mutational profiles and a higher rate of KIT acquisition as a secondary event. Non-D816 cases demonstrated significantly longer overall survival. In the subset of AML with t(8;21), D816 variants trended toward inferior survival compared with non-D816 variants. Our findings suggest that non-D816 KIT mutations are associated with a less aggressive clinical phenotype, lower mast-cell differentiation, and improved outcomes. These results support a biologically distinct role of non-D816 KIT variants in MNs and highlight the need for refined risk stratification incorporating KIT variant classes. - Source: PubMed
Publication date: 2026/04/28
Aqil BarinaSantana-Santos LucasGao JuehuaKaur AmandeepLu XinyanJennings Lawrence JAbaza YasminJi PengSukhanova Madina