Ask about this productRelated genes to: PDCD10 antibody
- Gene:
- PDCD10 NIH gene
- Name:
- programmed cell death 10
- Previous symbol:
- CCM3
- Synonyms:
- TFAR15
- Chromosome:
- 3q26.1
- Locus Type:
- gene with protein product
- Date approved:
- 1999-12-10
- Date modifiied:
- 2019-04-23
Related products to: PDCD10 antibody
Related articles to: PDCD10 antibody
- Cerebral cavernous malformations (CCM) are angiographically occult vascular anomalies of the brain, characterized by dilated capillaries, increased vascular permeability, and loss of endothelial junctional protein complexes. Loss-of-function mutations in one of the three genes, namely KRIT1/CCM1, CCM2, and PDCD10/CCM3, have been associated with the disease pathogenesis, although the contribution of other genetic determinants besides CCM genes has been recently identified. Despite recent advances in understanding the molecular mechanism of the disease, the current lack of therapies and its unpredictable clinical behavior represent a significant challenge in the identification of diagnostic biomarkers. ADGRL4/ETLD1 (epidermal growth factor, latrophilin and seven transmembrane domain-containing protein 1), a G-protein coupled receptor (GPCR) protein is a known biomarker of angiogenesis and inflammation, and it has been suggested to be a key therapeutic target for stroke and high-grade gliomas. However, the relevance of ELTD1 in CCM pathogenesis remains unexplored. - Source: PubMed
Publication date: 2026/05/08
Perrelli AndreaAhmed AshraqatOnisiforou AnnaBoulday GwenolaZalvide JuanPombo Celia MMartínez José EPaolini AlessioAbdelilah-Seyfried SalimPetrakakis IoannisKunz Wolfram SGeffers RobertHartmann ChristianBini WalterBaltsavias GerasimosSamii AmirBertalanffy HelmutRetta Saverio FGlading Angela JKar Souvik - Cerebral cavernous malformations (CCMs) are low-flow, thin-walled vascular conglomerates that arise within the central nervous system and constitute a significant cause of stroke. Experimental evidence indicates that mitochondrial dysfunction contributes to the pathogenesis of CCM, a disease that can be caused by PDCD10 deficiency. However, the specific mechanisms underlying mitochondrial homeostatic imbalance remain unclear. 3-oxoacid CoA-transferase 1 (OXCT1), localized in the mitochondrial matrix, serves as the rate-limiting enzyme of ketone body metabolism. Additionally, it also modulates diverse mitochondrial functions. Although the function of OXCT1 has been implicated in various diseases, its role in the progression of CCM awaits elucidation. Utilizing RNA-seq data from the CRISPR/Cas9-generated PDCD10-knockout endothelial cell line, primary endothelial cells from Pdcd10 mice, and CCM patient-derived endothelial cells, this study identified OXCT1 as a hub gene involved in mitochondrial pathways during CCM progression. Loss-of-function mutations of OXCT1 in malformed vascular endothelium accelerated disease progression and mediated mitochondrial impairment. High-throughput virtual screening identified S-adenosylmethionine (SAMe) as a small-molecule drug targeting the active site of OXCT1. Furthermore, SAMe is an orally available drug with high bioavailability and a favorable safety profile, which effectively suppressed disease progression in our murine model of CCM. In conclusion, this study provides initial evidence that OXCT1 is a novel therapeutic target in CCM and that SAMe holds promise as a potential treatment. - Source: PubMed
Publication date: 2026/03/21
Ye YongqingYan CongHuang XuyangHusilengtu Shi YucongLi YingZhao BonanDu WenzhongZhang DongdongXiong ZiyuMen ChunyangWang YuwenDuan QianpengBi RuiZhang YajieCheng JiaxinYang BaoSong ZheZhao XiaDu JiapeiShi Changbin - To review how the immune microenvironment and oxidative stress modulate the initiation, maturation, and hemorrhagic conversion of cerebral cavernous malformations (CCM) and to appraise the therapeutic potential of immune-directed interventions. - Source: PubMed
Zhu XuesaiYao YizhiYu TengboXiao Xiao - Familial cerebral cavernous malformations (fCCMs) are a rare genetic autosomal dominant cerebrovascular disease characterized by multiple cerebral and spinal angiomas. The condition is caused by mutations in KRIT1 (CCM1), CCM2 (malcavernin), or PDCD10 (CCM3) and may lead to intracerebral hemorrhage (ICH) or non-hemorrhagic focal neurological deficits (FNDs), potentially leading to severe disability and even death. To date, little is known about disease progression, and tools to identify patients at higher risk are lacking. - Source: PubMed
Publication date: 2026/01/05
Lanfranconi SilviaScola ElisaNovelli DeborahPoggesi AnnaPescini FrancescaPavanello MarcoRomano FerruccioD'Alessandris Quintino GiorgioMarani WalterSignorelli FrancescoIaconetta GiorgioTorelli GiovanniFainardi EnricoSeverino MariasavinaRemore Luigi GianmariaBertani Giulio AndreaConte GiorgioCapra ValeriaVasamì AntonellaNicolis EnricoContino GiorgiaRonchi DarioPalmieri Maria ChiaraPrevitali AlessandraMattogno Pier PaoloSturiale Carmelo LucioSolarino Maria ElenaCaliulo RitaBozzi Maria TeresaFratini FilippoZanier Elisa RLatini RobertoMeessen Jennifer Marie Theresia AnnaLocatelli Marco - Adults and children with cerebral cavernous malformations (CCMs) are at risk of experiencing lifelong complications such as hemorrhagic strokes, neurological deficits, and epileptic seizures. These complications can severely reduce quality of life. At present, there is no safe or effective therapeutic option for the long-term treatment of CCMs. - Source: PubMed
Publication date: 2025/12/11
Frias-Anaya EduardoGallego-Gutierrez HeliosBui CassandraBirrueta Janeth OchoaSteinberg JeffreyNiesman Ingrid ReynoldsGongol BrendanNguyen BrinaSawhney AaryamanMizushima ZaidaConnolly NyleKilpatrick BethanAwad Issam APatel Hemal HTrejo JoAnnMomper Jeremiah DTaddei AndreaLopez-Ramirez Miguel Alejandro