Glycoprotein Pathways Altered in Frontotemporal Dementia With Autoimmune Disease

Bright, Fiona; Katzeff, Jared S.; Hodges, John R.; Piguet, Olivier; Kril, Jillian J.; Halliday, Glenda M.; Kim, Woojin Scott

doi:10.3389/fimmu.2021.736260

Cited by 3 publications

(2 citation statements)

References 68 publications

(108 reference statements)

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“…In addition, the possible pathogenesis of Fam20C in coronary artery disease has been revealed, of which the Fam20C-dependent phosphorylation of sortlin at Ser825 is integral in the process of smooth muscle cell (SMC) calcification ( Goettsch et al, 2016 ). One latest study reported the decreased expression of Fam20C in behavioral variant frontotemporal dementia (bvFTD) with autoimmune disease ( Bright et al, 2021 ).…”

Section: Diseases Associated With Fam20cmentioning

confidence: 99%

Fam20C in Human Diseases: Emerging Biological Functions and Therapeutic Implications

Rong-sheng

Tan

Zhang

et al. 2021

Front. Mol. Biosci.

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Fam20C, a typical member of Fam20 family, has been well-known as a Golgi casein kinase, which is closely associated with Raine Syndrome (RS). It can phosphorylate many secreted proteins and multiple substrates, and thereby plays a crucial role in biological functions. More importantly, Fam20C has also been found to enhance the metastasis of several types of human cancers, such as breast cancer, indicating that Fam20C may be a promising therapeutic target. Accordingly, some small-molecule inhibitors of Fam20C have been reported in cancer. Taken together, these inspiring findings would shed new light on exploiting Fam20C as a potential therapeutic target and inhibiting Fam20C with small-molecule compounds would provide a clue on discovery of more candidate small-molecule drugs for fighting with human diseases.

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Section: Diseases Associated With Fam20cmentioning

confidence: 99%

Fam20C in Human Diseases: Emerging Biological Functions and Therapeutic Implications

Rong-sheng

Tan

Zhang

et al. 2021

Front. Mol. Biosci.

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“…Specific O- GlcNAc modifications are important for T cell activation and their blocking reduces IL-2 production and cell proliferation ( 82 ). Changes in O -glycan composition are associated with different metabolic conditions and disorders, including autoimmune diseases, type II diabetes, and cardiovascular diseases ( 83 , 84 ). O -glycans are present in high concentrations in the zona pellucida surrounding mammalian eggs and play critical roles in fertilization ( 85 ).…”

Section: Discussionmentioning

confidence: 99%

Exome sequencing to explore the possibility of predicting genetic susceptibility to the joint occurrence of polycystic ovary syndrome and Hashimoto’s thyroiditis

et al. 2023

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A large body of evidence indicates that women with polycystic ovary syndrome (PCOS) have a higher risk of developing Hashimoto’s thyroiditis (HT) than healthy individuals. Given the strong genetic impact on both diseases, common predisposing genetic factors are possibly involved but are not fully understood. Here, we performed whole-exome sequencing (WES) for 250 women with sporadic PCOS, HT, combined PCOS and HT (PCOS+HT), and healthy controls to explore the genetic background of the joint occurrence of PCOS and HT. Based on relevant comparative analyses, multivariate logistic regression prediction modeling, and the most informative feature selection using the Monte Carlo feature selection and interdependency discovery algorithm, 77 variants were selected for further validation by TaqMan genotyping in a group of 533 patients. In the allele frequency test, variants in RAB6A, GBP3, and FNDC7 genes were found to significantly (padjusted < 0.05) differentiated the PCOS+HT and PCOS groups, variant in HIF3A differentiated the PCOS+HT and HT groups, whereas variants in CDK20 and CCDC71 differentiated the PCOS+HT and both single disorder groups. TaqMan genotyping data were used to create final prediction models, which differentiated between PCOS+HT and PCOS or HT with a prediction accuracy of AUC = 0.78. Using a 70% cutoff of the prediction score improved the model parameters, increasing the AUC value to 0.87. In summary, we demonstrated the polygenic burden of both PCOS and HT, and many common and intersecting signaling pathways and biological processes whose disorders mutually predispose patients to the development of both diseases.

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FAM20C: A key protein kinase in multiple diseases

Zhang,

Ren,

et al. 2025

Genes & Diseases

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Glycoprotein Pathways Altered in Frontotemporal Dementia With Autoimmune Disease

Cited by 3 publications

References 68 publications

Fam20C in Human Diseases: Emerging Biological Functions and Therapeutic Implications

Fam20C in Human Diseases: Emerging Biological Functions and Therapeutic Implications

Exome sequencing to explore the possibility of predicting genetic susceptibility to the joint occurrence of polycystic ovary syndrome and Hashimoto’s thyroiditis

FAM20C: A key protein kinase in multiple diseases

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