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Abstract (English)

Chorein is an endoplasmic reticulum protein expressed in many cell types. Loss-of-function mutations of the gene encoding chorein ( VPS13A ) are the cause of chorea-acanthocytosis, a rare and severe neurodegenerative disease with chorea-like movements, loss of mental function, progressive muscle weakness and misshaped erythrocytes (acanthocytes). Chorein regulates diverse cellular functions including the cytoskeleton, apoptosis, Ca 2+ entry, or autophagy. Since its role in bone is enigmatic, we aimed to explore the function of chorein in osteoblasts. To this end, we generated UMR-106 osteoblast-like cells with stable chorein knockdown (KD) using a CRISPR/Cas9-based approach and compared them to cells undergoing CRISPR/Cas9 with a non-targeting sequence (NT). Gene expression was assessed by qPCR and protein by Western blotting and ELISA. Gene and protein expression of chorein and fibroblast growth factor 23 (FGF23), an osteoblast-derived hormonal regulator of phosphate metabolism, were decreased in KD compared to NT cells. Moreover, FGF23 regulator Phex was down- and Galnt3 was up-regulated in KD compared to NT cells. The expression of further genes regulating osteoblast and osteoclast differentiation was affected by chorein knockdown. Taken together, chorein is expressed in UMR-106 osteoblasts and modulates the expression of various genes affecting osteoblast and osteoclast differentiation and function.

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Cell biochemistry and biophysics, 84 (2026), 1, 1245-1252. https://doi.org/10.1007/s12013-025-01939-4. ISSN: 1559-0283 New York : Springer US

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Feger, M., Tsapara, A., Hülße, S., Rausch, S., Barholz, M., Stournaras, C., & Föller, M. (2026). Chorein regulates key osteoblast genes in UMR-106 cells. Cell biochemistry and biophysics, 84(1). https://doi.org/10.1007/s12013-025-01939-4

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English

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610 Medicine and health

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Sustainable Development Goals

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@article{Feger2026, doi = {10.1007/s12013-025-01939-4}, author = {Feger, Martina and Tsapara, Anna and Hülße, Sina et al.}, title = {Chorein regulates key osteoblast genes in UMR-106 cells}, journal = {Cell biochemistry and biophysics}, year = {2026}, volume = {84}, number = {1}, pages = {1245--1252}, }

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