Abidi, I., Kocev, A. N., Babulic, J. L., Capicciotti, C. J., Walia, J., & Brockhausen, I. (2025). Characterization of human recombinant β1,4-galnac-transferase B4GALNT1 and inhibition by selected compounds. Molecules, 30(17), 3615. https://doi.org/10.3390/molecules30173615

Article  CAS  PubMed  PubMed Central  Google Scholar 

Alecu, J. E., Ohmi, Y., Bhuiyan, R. H., Inamori, K., Nitta, T., Saffari, A., Jumo, H., Ziegler, M., de Gusmao, C. M., Sharma, N., Ohno, S., Manabe, N., Yamaguchi, Y., Kambe, M., Furukawa, K., Sahin, M., Inokuchi, J., Furakawa, K., & Ebrahimi-Fakhari, D. (2022). Functional validation of novel variants in b4galnt1 associated with early‐onset complex hereditary spastic paraplegia with impaired ganglioside synthesis. American Journal of Medical Genetics Part A, 188(9), 2590–2598. https://doi.org/10.1002/ajmg.a.62880

Article  CAS  PubMed  PubMed Central  Google Scholar 

An, Y., Yao, Y., Liu, H., Xi, Y., Pi, M., Xu, R., Huang, Y., Li, S., & Gu, X. (2025). The role of the CCL5-CCR5 axis in microglial activation leading to postoperative cognitive dysfunction. Experimental Neurology, 385, 115114. https://doi.org/10.1016/j.expneurol.2024.115114

Article  CAS  PubMed  Google Scholar 

Bufi, A. A., Di Stefano, J., Papait, A., Silini, A. R., Parolini, O., & Ponsaerts, P. (2025). The central role of CXCL10-CXCR3 signaling in neuroinflammation and neuropathology. Cytokine & Growth Factor Reviews, 84, 20–34. https://doi.org/10.1016/j.cytogfr.2025.05.003

Article  CAS  Google Scholar 

Canini, G., Mazzinelli, E., Nocca, G., Lattanzi, W., & Arcovito, A. (2025). Targeting glucosylceramide synthase: Innovative Drug repurposing strategies for lysosomal diseases. International Journal of Molecular Sciences, 26(5), 2195. https://doi.org/10.3390/ijms26052195

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cherry, J. D., Meng, G., Daley, S., Xia, W., Svirsky, S., Alvarez, V. E., Nicks, R., Pothast, M., Kelley, H., Huber, B., Tripodis, Y., Alosco, M. L., Mez, J., McKee, A. C., & Stein, T. D. (2020). CCL2 is associated with microglia and macrophage recruitment in chronic traumatic encephalopathy. Journal of Neuroinflammation, 17(1). https://doi.org/10.1186/s12974-020-02036-4

Chiavegatto, S., Sun, J., Nelson, R. J., & Schnaar, R. L. (2000). A functional role for complex gangliosides: Motor deficits in GM2/GD2 synthase knockout mice. Experimental Neurology, 166(2), 227–234. https://doi.org/10.1006/exnr.2000.7504

Article  CAS  PubMed  Google Scholar 

Coutinho, M., Santos, J., & Alves, S. (2016). Less is more: Substrate reduction therapy for lysosomal storage disorders. International Journal of Molecular Sciences, 17(7), 1065. https://doi.org/10.3390/ijms17071065

Article  CAS  PubMed  PubMed Central  Google Scholar 

Demir, S. A., Timur, Z. K., Ateş, N., Martínez, L. A., & Seyrantepe, V. (2020). GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease. Journal of Neuroinflammation, 17(1). https://doi.org/10.1186/s12974-020-01947-6

Friso, A., Tomanin, R., Salvalaio, M., & Scarpa, M. (2010). Genistein reduces glycosaminoglycan levels in a mouse model of mucopolysaccharidosis type II. British Journal of Pharmacology, 159(5), 1082–1091. https://doi.org/10.1111/j.1476-5381.2009.00565.x

Article  CAS  PubMed  PubMed Central  Google Scholar 

González-Sánchez, M., Ramírez-Expósito, M. J., & Martínez-Martos, J. M. (2025). Advances in diagnosis, pathological mechanisms, clinical impact, and future therapeutic perspectives in Tay–Sachs disease. Neurology International, 17(7), 98. https://doi.org/10.3390/neurolint17070098

Article  CAS  PubMed  PubMed Central  Google Scholar 

Goodspeed, K., Feng, C., Laine, M., & Lund, T. C. (2021). Aspartylglucosaminuria: Clinical presentation and potential therapies. Journal of Child Neurology, 36(5), 403–414. https://doi.org/10.1177/0883073820980904

Article  PubMed  Google Scholar 

Inamori, K., Nakamura, K., Shishido, F., Hsu, J. C., Nagafuku, M., Nitta, T., Ikeda, J., Yoshimura, H., Kodaira, M., Tsuchida, N., Matsumoto, N., Uemura, S., Ohno, S., Manabe, N., Yamaguchi, Y., Togayachi, A., Aoki-Kinoshita, K. F., Nishihara, S., Furukawa, J., & Inokuchi, J. (2024). Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population. Frontiers in Neuroscience, 18. https://doi.org/10.3389/fnins.2024.1437668

Inci, O. K., & Seyrantepe, V. (2025). Combined treatment of ketogenic diet and propagermanium reduces neuroinflammation in Tay-Sachs disease mouse model. Metabolic Brain Disease, 40(3). https://doi.org/10.1007/s11011-025-01553-6

Jeyakumar, M., Thomas, R., Elliot-Smith, E., Smith, D. A., van der Spoel, A. C., d’Azzo, A., Perry, V. H., Butters, T. D., Dwek, R. A., & Platt, F. M. (2003). Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis. Brain, 126(4), 974–987. https://doi.org/10.1093/brain/awg089

Article  CAS  PubMed  Google Scholar 

Joly-Amado, A., Hunter, J., Quadri, Z., Zamudio, F., Rocha-Rangel, P. V., Chan, D., Kesarwani, A., Nash, K., Lee, D. C., Morgan, D., Gordon, M. N., & Selenica, M. L. B. (2020). CCL2 overexpression in the brain promotes glial activation and accelerates tau pathology in a mouse model of tauopathy. Frontiers in Immunology, 11. https://doi.org/10.3389/fimmu.2020.00997

Khan, A., & Sergi, C. (2018). Sialidosis: A review of morphology and molecular biology of a rare pediatric disorder. Diagnostics, 8(2), 29. https://doi.org/10.3390/diagnostics8020029

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu, Y., Wada, R., Kawai, H., Sango, K., Deng, C., Tai, T., McDonald, M. P., Araujo, K., Crawley, J. N., Bierfreund, U., Sandhoff, K., Suzuki, K., & Proia, R. L. (1999). A genetic model of substrate deprivation therapy for a glycosphingolipid storage disorder. Journal of Clinical Investigation, 103(4), 497–505. https://doi.org/10.1172/jci5542

Article  CAS  PubMed  PubMed Central  Google Scholar 

Liu, Y., Wu, Y. P., Wada, R., Neufeld, E. B., Mullin, K. A., Howard, A. C., Pentchev, P. G., Vanier, M. T., Suzuki, K., & Proia, R. L. (2000). Alleviation of neuronal ganglioside storage does not improve the clinical course of the Niemann–Pick C disease mouse. Human Molecular Genetics, 9(7), 1087–1092. https://doi.org/10.1093/hmg/9.7.1087

Article  CAS  PubMed  Google Scholar 

Marshall, J., Nietupski, J. B., Park, H., Cao, J., Bangari, D. S., Silvescu, C., Wilper, T., Randall, K., Tietz, D., Wang, B., Ying, X., Leonard, J. P., & Cheng, S. H. (2019). Substrate reduction therapy for Sandhoff disease through inhibition of glucosylceramide synthase activity. Molecular Therapy, 27(8), 1495–1506. https://doi.org/10.1016/j.ymthe.2019.05.018

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mendiola, A. S., & Cardona, A. E. (2018). The IL-1β phenomena in neuroinflammatory diseases. Journal of Neural Transmission, 125(5), 781–795. https://doi.org/10.1007/s00702-017-1732-9

Article  CAS  PubMed  Google Scholar 

Ohmi, K., Greenberg, D. S., Rajavel, K. S., Ryazantsev, S., Li, H. H., & Neufeld, E. F. (2003). Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proceedings of the National Academy of Sciences, 100(4), 1902–1907. https://doi.org/10.1073/pnas.252784899

Article  CAS  Google Scholar 

Pelisch, N., Rosas Almanza, J., Stehlik, K. E., Aperi, B. V., & Kroner, A. (2020). CCL3 contributes to secondary damage after spinal cord injury. Journal of Neuroinflammation, 17(1). https://doi.org/10.1186/s12974-020-02037-3

Phaneuf, D., Wakamatsu, N., Huang, J. Q., Borowski, A., Peterson, A. C., Fortunato, S. R., Ritter, G., Igdoura, S. A., Morales, C. R., Benoit, G., Akerman, B. R., Leclerc, D., Hanai, N., Marth, J. D., Trasler, J. M., & Gravel, R. A. (1996). Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff diseases. Human Molecular Genetics, 5(1), 1–14. https://doi.org/10.1093/hmg/5.1.1

Article  CAS  PubMed  Google Scholar 

Piotrowska, E., Jakóbkiewicz-Banecka, J., Barańska, S., Tylki-Szymańska, A., Czartoryska, B., Węgrzyn, A., & Węgrzyn, G. (2006). Genistein-mediated inhibition of glycosaminoglycan synthesis as a basis for gene expression-targeted isoflavone therapy for mucopolysaccharidoses. European Journal of Human Genetics, 14(7), 846–852. https://doi.org/10.1038/sj.ejhg.5201623

Article  CAS  PubMed  Google Scholar 

Reichel, C. A., Rehberg, M., Lerchenberger, M., Berberich, N., Bihari, P., Khandoga, A. G., Zahler, S., & Krombach, F. (2009). CCL2 and CCL3 mediate neutrophil recruitment via induction of protein synthesis and generation of lipid mediators. Arteriosclerosis Thrombosis and Vascular Biology, 29(11), 1787–1793. https://doi.org/10.1161/atvbaha.109.193268

Article  CAS  PubMed  Google Scholar 

Sango, K., Yamanaka, S., Hoffmann, A., Okuda, Y., Grinberg, A., Westphal, H., McDonald, M. P., Crawley, J. N., Sandhoff, K., Suzuki, K., & Proia, R. L. (1995). Mouse models of Tay–Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nature Genetics, 11(2), 170–176. https://doi.org/10.1038/ng1095-170

Article  CAS  PubMed  Google Scholar 

Seyrantepe, V., Lema, P., Caqueret, A., Dridi, L., Bel Hadj, S., Carpentier, S., Boucher, F., Levade, T., Carmant, L., Gravel, R. A., Hamel, E., Vachon, P., Di Cristo, G., Michaud, J. L., Morales, C. R., & Pshezhetsky, A. V. (2010). Mice doubly-deficient in lysosomal hexosaminidase A and neuraminidase 4 show epileptic crises and rapid neuronal loss. PLoS Genetics, 6(9). https://doi.org/10.1371/journal.pgen.1001118

Seyrantepe, V., Demir, S. A., Timur, Z. K., Von Gerichten, J., Marsching, C., Erdemli, E., Oztas, E., Takahashi, K., Yamaguchi, K., Ates, N., Dönmez Demir, B., Dalkara, T., Erich, K., Hopf, C., Sandhoff, R., & Miyagi, T. (2018). Murine sialidase NEU3 facilitates GM2 degradation and bypass in mouse model of Tay-Sachs disease. Experimental Neurology, 299, 26–41. https://doi.org/10.1016/j.expneurol.2017.09.012

Article  CAS  PubMed  Google Scholar 

Sheikh, K. A., Sun, J., Liu, Y., Kawai, H., Crawford, T. O., Proia, R. L., Griffin, J. W., & Schnaar, R. L. (1999). Mice lacking complex gangliosides develop Wallerian degeneration and myelination defects. Proceedings of the National Academy of Sciences, 96(13), 7532–7537. https://doi.org/10.1073/pnas.96.13.7532

Article  CAS