Nogo‑B receptor in relevant carcinoma: Current achievements, challenges and aims (Review)

Li, Yukun; Xie, Yuanjie; Wu, Daichao; Long, Shuang-lian; Tang, Shengsong; Zhang, Mo

doi:10.3892/ijo.2018.4520

Cited by 9 publications

(6 citation statements)

References 75 publications

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“…It is primarily located in the endoplasmic reticulum. NgBR plays a crucial in lipid and cholesterol homeostasis through direct interaction with Nogo-B, and in uences N-linked protein glycosylation by regulating the cis-PTase activity (Harrison et al, 2011;Li et al, 2018). Functional experiments showed that the loss of Drosophila NUS1 orthologous gene tango14 leads to motor de cits, reduces the number of apoptotic dopaminergic neurons and dopamine contents in Drosophila, and results in cholesterol accumulation in the Malpighian tubules and brain, as well as the formation of neurodegenerative brain vacuoles in an age dependent manner (Guo et Park et al, 2014).…”

Section: Discussionmentioning

confidence: 99%

Identification of two novel variants in NUS1 gene in two unrelated Chinese families with intellectual disorder and epilepsy

Kan,

Zhao,

et al. 2024

Preprint

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Background Mutations in the NUS1 gene, which encodes a Nogo-B receptor (NgBR), are related to congenital disorder of glycosylation, epilepsy, and Parkinson’s disease. However, due to the limited number of cases with genotype and detailed clinical features, more cases are needed to better understand the functional and phenotypic characteristics of NUS1 variants. In this study, we reported two unrelated Chinese individuals suffering from intellectual disorder and epilepsy. Materials and methods Whole-exome sequencing (WES) was performed on the two patients to identify pathogenic variants, and copy number variation sequencing (CNV-Seq) was conducted on the patients 2. The candidate variants were subsequently validated using Sanger sequencing. Additionally, bioinformatics analyses were used to investigate the deleteriousness of the identified variants. Results WES identified two novel variants in the NUS1 gene [NM_138459.5: c.640A > T/p.K214*, c.278delC/p.L94Wfs*11] in the two unrelated individuals with myoclonus, epilepsy, and intellectual disability. These variants resulted in truncated NgBR proteins, which lost the cis-PTase domain. According to the American College of Medical Genetics and Genomics (ACMG) classification, p.K214* was evaluated as likely pathogenic and p.L94Wfs*11 was evaluated as pathogenic. CNV-Seq analysis revealed a 0.4Mb duplication of Xq27.2q27.2 in patient 2, which was considered uncertain significance. Conclusion Our findings strongly suggest that the two novel variants in NUS1 gene may be the cause of the patient's clinical characteristics, possibly due to the loss of cis-PTase activity. Furthermore, our study expanded the genotype-phenotype spectrum of the NUS1 gene.

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Section: Discussionmentioning

confidence: 99%

Identification of two novel variants in NUS1 gene in two unrelated Chinese families with intellectual disorder and epilepsy

Kan,

Zhao,

et al. 2024

Preprint

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“…It also regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol. Meanwhile, NUS1 has been widely documented to regulate cell growth, adhesion, and differentiation [37]. In addition, there is growing evidence that NUS1 is upregulated in several cancer types, such as breast cancer [38], liver cancer [39,40], and lung cancer [41].…”

Section: Discussionmentioning

confidence: 99%

miR-184-5p inhibits cell proliferation, invasion and predicts prognosis of clear cell renal cell carcinoma by targeting NUS1 dehydrodolichyl diphosphate synthase subunit: Results from large-scale comprehensive identification and validation

Liu¹,

Ma²,

Xu³

et al. 2022

J. Cancer

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Clear cell renal cell carcinoma (ccRCC) has become a common malignant cancer with increasing incidence rate and high recurrence risk in genitourinary oncology around the world. Recently, miRNAs were identified to affect pathogenesis, development, molecular functions, and prognosis of ccRCC. In this study, microRNA-184-5p (miR-184-5p) was identified from three independent ccRCC cohorts and was determined as a significantly distinct prognostic biomarker. Relative miR-184-5p expression was found in A-498 and 786-O ccRCC cells compared with HK-2 cells. After ccRCC cells were transfected with miR-184-5p mimics or inhibitor, biological abilities of miR-184-5p in tumor cell proliferation, cycle, apoptosis and invasion were determined. Additionally, we confirmed the direct relationship between miR-184-5p and NUS1 dehydrodolichyl diphosphate synthase subunit (NUS1) by using the Luciferase reporter and rescue assays. These results indicated that the expression level of miR-184-5p in human ccRCC cells and tissues was reduced, and the up-regulation of miR-184-5p regulated A-498 and 786-O cell proliferation, invasion and apoptosis by directly targeting NUS1. These findings may provide new theoretical targets for treatment strategies and drug development of ccRCC.

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“…AMPK, a serine/threonine kinase, is characterized by sensitivity to changes in the ratio of AMP/ATP; AMPK acts as a cellular energy sensor, regulating various cell progression processes such as CRC cell survival, proliferation, differentiation, migration and metabolism [122,123].…”

Section: The Function and Mechanism Of Ampk A Key Energy Metabolism mentioning

confidence: 99%

Colorectal cancer (CRC) as a multifactorial disease and its causal correlations with multiple signaling pathways

et al. 2020

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Colorectal cancer (CRC) is the third most common malignancy and one of the leading causes of cancer-related death among men worldwide. CRC is a multifactor digestive pathology, which is a huge problem faced not only by clinicians but also by researchers. Importantly, a unique feature of CRC is the dysregulation of molecular signaling pathways. To date, a series of reviews have indicated that different signaling pathways are disordered and have potential as therapeutic targets in CRC. Nevertheless, an overview of the function and interaction of multiple signaling pathways in CRC is needed. Therefore, we summarized the pathways, biological functions and important interactions involved in CRC. First, we investigated the involvement of signaling pathways, including Wnt, PI3K/Akt, Hedgehog, ErbB, RHOA, Notch, BMP, Hippo, AMPK, NF-κB, MAPK and JNK. Subsequently, we discussed the biological function of these pathways in pathophysiological aspects of CRC, such as proliferation, apoptosis and metastasis. Finally, we summarized important interactions among these pathways in CRC. We believe that the interaction of these pathways could provide new strategies for the treatment of CRC.

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Nogo‑B receptor in relevant carcinoma: Current achievements, challenges and aims (Review)

Cited by 9 publications

References 75 publications

Identification of two novel variants in NUS1 gene in two unrelated Chinese families with intellectual disorder and epilepsy

Identification of two novel variants in NUS1 gene in two unrelated Chinese families with intellectual disorder and epilepsy

miR-184-5p inhibits cell proliferation, invasion and predicts prognosis of clear cell renal cell carcinoma by targeting NUS1 dehydrodolichyl diphosphate synthase subunit: Results from large-scale comprehensive identification and validation

Colorectal cancer (CRC) as a multifactorial disease and its causal correlations with multiple signaling pathways

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