<i>NF‐E2</i> mutation as a novel cause for inherited thrombocytopenia

Luk, Anderson Dik Wai; Yang, Xintao; Alcasabas, Ana Patricia; Hao, Roxanne Casis; Chan, Koon-Wing; Lee, Pamela; Yang, Jing; Chan, Godfrey Chi‐Fung; So, Jason Chi-Chiu; Yang, Wanling; Lau, Yu Lung

doi:10.1111/bjh.16438

Cited by 5 publications

(3 citation statements)

References 19 publications

(28 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Additionally, NF-E2 is specifically limited to megakaryocytes, mast cells, erythrocytes, and hematopoietic progenitors. [48][49][50]. It appears NRF1 assists in the the proteasome transcriptional bounce-back response to proteasome blocker processing [51].…”

Section: Introductionmentioning

confidence: 99%

NRF1 or NRF2: Emerging Role of Redox Homeostasis on PERK/NRF/Autophagy Mediated Antioxidant in Tumor and Patient Dependent Chemo Sensitivity

Dastghaib,

Shafiee,

Ramezani

et al. 2024

Preprint

View full text Add to dashboard Cite

Chemo-resistance is a substantial challenge in the realm of cancer treatment that requires exploring new therapeutic approaches for effective mitigation. Achieving this goal requires examination of the molecular mechanisms involved in both tumor growth and therapeutic interventions. The potential of NRF2 (Nuclear factor E2-related factor 2) in addressing resistance to chemotherapy across diverse cancer types highlights its value as a promising therapeutic approach based on cancer characteristics. Manipulating the NRF2 signaling pathway has a dual impact, offering promise for both preventing and treating cancer, as well as inhibiting carcinogenesis. The influence of the NRF2/KEAP1 pathway on the progression of tumor formation and resistance to drugs has been well-documented. The interplay between the NRF2 signaling pathway and processes such as endoplasmic reticulum (ER) stress, unfolded protein response (UPR), and autophagy plays a crucial protective role. A deeper understanding of NRF2's role in the modulating these pathways is necessary to develop novel approaches for improving chemotherapeutic efficacy. This article discusses the significance of the NRF2-KEAP1 pathway in preventing/promoting cancer and resistance mechanisms to various chemotherapeutic agents, with a focus on the complementary effects of antioxidants via NRF2-mediated signaling pathways. This study aims to provide a molecular basis for targeting NRF2 via inhibitors/activators as promising therapeutic strategies to overcome chemo-resistance.

show abstract

Section: Introductionmentioning

confidence: 99%

NRF1 or NRF2: Emerging Role of Redox Homeostasis on PERK/NRF/Autophagy Mediated Antioxidant in Tumor and Patient Dependent Chemo Sensitivity

Dastghaib,

Shafiee,

Ramezani

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…Anderson et al recently reported a novel NF‐E2 mutation as a cause of inherited thrombocytopenia. Sanger sequencing identified a homozygous frameshift mutation (c.952delA, p.T318fsX326) in exome 3, which produced a truncated p45/NF‐E2, with loss of its sumoylation site 1 . The patient was lost to follow up, so the clinical course could not be ascertained.…”

mentioning

confidence: 99%

“…He was empirically treated with intravenous immunoglobulin, prednisolone, cyclosporine, and sirolimus; however, none were effective and he remained on regular platelet and intermittent PRBC transfusions. Whole‐exome sequencing (WES) revealed a homozygous frameshift mutation in NF‐E2 (c.952delA, p.T318fsX326), which resulted in a truncated transcription factor NF‐E2 45 kDa subunit (p45/NF‐E2) 1 . The patient moved to UAE where he was referred to us at 17 months of age for definitive management.…”

mentioning

confidence: 99%