The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Loss of ceramide synthase 3 causes lethal skin barrier disruption
Open accessAbstract
The stratum corneum as the outermost epidermal layer protects against exsiccation and infection. Both the underlying cornified envelope (CE) and the intercellular lipid matrix contribute essentially to these two main protective barriers. Epidermis-unique ceramides with ultra-long-chain acyl moities (ULC-Cers) are key components of extracellular lipid lamellae (ELL) and are bound to CE proteins, thereby contributing to the cornified lipid envelope (CLE). Here, we identified human and mouse ceramide synthase 3 (CerS3), among CerS1-6, to be exclusively required for the ULC-Cer synthesis in vitro and of mouse CerS3 in vivo. Deficiency of CerS3 in mice results in complete loss of ULC-Cers (≥C26), lack of continuous ELL and a non-functional CLE. Consequently, newborn mutant mice die shortly after birth from transepidermal water loss. Mutant skin is prone to Candida albicans infection highlighting ULC-Cers to be pivotal for both barrier functions. Persistent periderm, hyperkeratosis and deficient cornification are hallmarks of mutant skin demonstrating loss of Cers to trigger a keratinocyte maturation arrest at an embryonic pre-barrier stage.
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Cites
The cornified envelope: a model of cell death in the skin
Candi, E., Schmidt, R., & Melino, G. (2005) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1619 · Cited by 1,776
Claudin-based tight junctions are crucial for the mammalian epidermal barrier
Furuse, M., Hata, M., Furuse, K., Yoshida, Y., Haratake, A., Sugitani, Y., Noda, T., Kubo, A., & Tsukita, S. (2002) · The Journal of Cell Biology · doi:10.1083/jcb.200110122 · Cited by 1,512
Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity
Puel, A., Cypowyj, S., Bustamante, J., Wright, J. F., Liu, L., Lim, H. K., Migaud, M., Israel, L., Chrabieh, M., Audry, M., et al. (2011) · Science · doi:10.1126/science.1200439 · Cited by 1,056 · cited 1×
“chronic mucocutaneous candidiasis disease, for which in most cases the underlying etiology is still unknown (56,57), offers a potential linkage to the CERS3 gene.”
BackgroundChanges in the Ceramide Profile of Atopic Dermatitis Patients
Ishikawa, J., Narita, H., Kondo, N., Hotta, M., Takagi, Y., Masukawa, Y., Kitahara, T., Takema, Y., Koyano, S., Yamazaki, S., et al. (2010) · Journal of Investigative Dermatology · doi:10.1038/jid.2010.161 · Cited by 372
LC/MS analysis of stratum corneum lipids: ceramide profiling and discovery
van Smeden, J., Hoppel, L., van der Heijden, R., Hankemeier, T., Vreeken, R. J., & Bouwstra, J. A. (2011) · Journal of Lipid Research · doi:10.1194/jlr.m014456 · Cited by 229
Necessary Role for the Lag1p Motif in (Dihydro)ceramide Synthase Activity
Spassieva, S., Seo, J.-G., Jiang, J. C., Bielawski, J., Alvarez-Vasquez, F., Jazwinski, S. M., Hannun, Y. A., & Obeid, L. M. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m608092200 · Cited by 121
Cited by
Sphingolipid metabolism in cancer signalling and therapy
Ogretmen, B. (2018) · Nature Reviews Cancer · doi:10.1038/nrc.2017.96 · Cited by 1,207
The emerging role of ferroptosis in inflammation
Sun, Y., Chen, P., Zhai, B., Zhang, M., Xiang, Y., Fang, J., Xu, S., Gao, Y., Chen, X., Sui, X., et al. (2020) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2020.110108 · Cited by 739
The important role of stratum corneum lipids for the cutaneous barrier function
van Smeden, J., Janssens, M., Gooris, G. S., & Bouwstra, J. A. (2014) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2013.11.006 · Cited by 549
Raichur, S., Wang, S. T., Chan, P. W., Li, Y., Ching, J., Chaurasia, B., Dogra, S., Öhman, M. K., Takeda, K., Sugii, S., et al. (2014) · Cell Metabolism · doi:10.1016/j.cmet.2014.09.015 · Cited by 455
Very long-chain fatty acids: elongation, physiology and related disorders
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Metadata
- Authors
- Jennemann, R., Rabionet, M., Gorgas, K., Epstein, S., Dalpke, A., Rothermel, U., Bayerle, A., van der Hoeven, F., Imgrund, S., Kirsch, J., Nickel, W., Willecke, K., Riezman, H., Gröne, H.-J., & Sandhoff, R.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2011-10-28
- Volume
- 21
- Issue
- 3
- Pages
- 586-608
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2124473191
- Cited by
- 284
- References
- 6
- FWCI
- 6.82
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Jennemann, R., Rabionet, M., Gorgas, K., Epstein, S., Dalpke, A., Rothermel, U., Bayerle, A., van der Hoeven, F., Imgrund, S., Kirsch, J., Nickel, W., Willecke, K., Riezman, H., Gröne, H.-J., & Sandhoff, R. (2012). Loss of ceramide synthase 3 causes lethal skin barrier disruption. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddr494
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