Ask about this productRelated genes to: DPH1 antibody
- Gene:
- DPH1 NIH gene
- Name:
- diphthamide biosynthesis 1
- Previous symbol:
- DPH2L, DPH2L1
- Synonyms:
- OVCA1
- Chromosome:
- 17p13.3
- Locus Type:
- gene with protein product
- Date approved:
- 1995-08-25
- Date modifiied:
- 2015-08-25
Related products to: DPH1 antibody
Related articles to: DPH1 antibody
- The aim of this study was to gain insight into the molecular spectrum of anophthalmia and microphthalmia (A/M) in the Egyptian population. - Source: PubMed
Publication date: 2026/01/20
Elmakkawy GehadNabil AmiraNabil KarimAmin Asmaa KenawyMaskill DavidAli ManirSchorderet DanielBayoumi NaderShakankiri NihalAbdalla Ebtesam - Lethal toxins could become potent therapies against cancer, but their clinical utility is limited by adverse events upon systemic administration. These could be reduced if the toxins were delivered by effector cells that specifically infiltrate cancers, thereby releasing toxins locally into the tumor microenvironment. One of the challenges underlying this strategy is that cells delivering toxins would have to be resistant to them. We address this obstacle by showing that effectors derived from transformed human cell lines genetically engineered for resistance to bacterial adenosine diphosphate ribosylating toxins (ADPRTs), including exotoxin A (PE), can produce targeted immunotoxins that specifically kill cancer cells expressing cognate tumor-associated antigens. Resistance to immunotoxins was achieved by knockout of genes in the diphthamide biosynthesis pathway () required for the posttranslational modification of eukaryotic elongation factor 2 (EEF2) that is the target of ADPRTs or by mutation of itself. We show that engineering resistance to ADPRTs, one of the most potent toxins acting on human cells, is essential to achieve robust function of armored effector cell lines. This work establishes a critical step on the path to equip effector cells with the ability to deliver powerful toxins to cancer cells and introduces a platform to investigate extension to primary autologous or allogeneic therapeutic cell types. - Source: PubMed
Publication date: 2026/03/16
Pearlman Alexander HMog Brian JHwang Michael SRincon-Torroella JordinaDiNapoli Sarah RPaul SumanDouglass JacquelineHsiue Emily Han-ChungGlavaris Stephanie APardoll Drew MPapadopoulos NickolasKinzler Kenneth WBettegowda ChetanZhou ShibinVogelstein BertKonig Maximilian F - Diphthamide biosynthesis 1 is a critical component of the multiprotein complex responsible for diphthamide biosynthesis. Autosomal recessive variants in Diphthamide biosynthesis 1 gene are associated with an ultra-rare neurodevelopmental disorder called developmental delay with short stature, dysmorphic facial features, and sparse hair, also known as Loucks-Innes syndrome. To the best of our knowledge, there have been fewer than 20 reported cases of Loucks-Innes syndrome in the literature. - Source: PubMed
Publication date: 2025/12/24
Al-Ajlouni Yazan ALihaz MaysaIslam Mohammad - Lethal toxins could become potent therapies against cancer, but their clinical utility is limited by adverse events upon systemic administration. These could be reduced if the toxins were delivered by effector cells that specifically infiltrate cancers, thereby releasing toxins locally into the tumor microenvironment. One of the challenges underlying this strategy is that cells delivering toxins would have to be resistant to them. We address this obstacle by showing that effectors derived from transformed human cell lines genetically engineered for resistance to bacterial adenosine diphosphate ribosylating toxins (ADPRTs), including exotoxin A (PE), can produce targeted immunotoxins that specifically kill cancer cells expressing cognate tumor-associated antigens. Resistance to immunotoxins was achieved by knockout of genes in the diphthamide biosynthesis pathway ( ) required for the posttranslational modification of eukaryotic elongation factor 2 (EEF2) that is the target of ADPRTs, or by mutation of itself. We show that engineering resistance to ADPRTs, one of the most potent toxins acting on human cells, is essential to achieve robust function of armored effector cell lines. This work establishes a first step on the path to equip effector cells with the ability to deliver powerful toxins to cancer cells and introduces a platform to investigate extension to primary autologous or allogeneic therapeutic cell types. - Source: PubMed
Publication date: 2025/12/11
Pearlman Alexander HMog Brian JHwang Michael SRincon-Torroella JordinaDiNapoli Sarah RPaul SumanDouglass JacquelineHsiue Emily Han-ChungGlavaris Stephanie APardoll Drew MPapadopoulos NickolasKinzler Kenneth WBettegowda ChetanZhou ShibinVogelstein BertKonig Maximilian F - Migraine is a common, disabling neurological disorder. Genome-wide association studies have mapped numerous migraine risk loci, but the causal genes and their cell-type context remain unclear. Prior work linked migraine GWAS to bulk brain eQTLs; however, tissue-average signals obscure cell-specific regulation. - Source: PubMed
Publication date: 2025/12/05
Ye HongHuang YajingWang ChengJin JianchengJiang ChaoyaFang JunjieXu Qiuhan