{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T14:16:28Z","timestamp":1790691388625,"version":"4.1.0"},"reference-count":52,"publisher":"Walter de Gruyter GmbH","issue":"10","funder":[{"DOI":"10.13039\/501100001659","name":"DFG","doi-asserted-by":"publisher","award":["GU 335-35\/1"],"award-info":[{"award-number":["GU 335-35\/1"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2018,9,25]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Farber disease (FD) is a rare lysosomal storage disorder resulting from acid ceramidase deficiency and subsequent ceramide accumulation. No treatments are clinically available and affected patients have a severely shortened lifespan. Due to the low incidence, the pathogenesis of FD is still poorly understood. Here, we report a novel acid ceramidase mutant mouse model that enables the study of pathogenic mechanisms of FD and ceramide accumulation. <jats:italic>Asah1<jats:sup>tmEx1<\/jats:sup>\n                  <\/jats:italic> mice were generated by deletion of the acid ceramidase signal peptide sequence. The effects on lysosomal targeting and activity of the enzyme were assessed. Ceramide and sphingomyelin levels were quantified by liquid chromatography tandem-mass spectrometry (LC-MS\/MS) and disease manifestations in several organ systems were analyzed by histology and biochemistry. We show that deletion of the signal peptide sequence disrupts lysosomal targeting and enzyme activity, resulting in ceramide and sphingomyelin accumulation. The affected mice fail to thrive and die early. Histiocytic infiltrations were observed in many tissues, as well as lung inflammation, liver fibrosis, muscular disease manifestations and mild kidney injury. Our new mouse model mirrors human FD and thus offers further insights into the pathogenesis of this disease. In the future, it may also facilitate the development of urgently needed therapies.<\/jats:p>","DOI":"10.1515\/hsz-2018-0170","type":"journal-article","created":{"date-parts":[[2018,6,16]],"date-time":"2018-06-16T22:15:46Z","timestamp":1529187346000},"page":"1183-1202","source":"Crossref","is-referenced-by-count":25,"title":["Pathological manifestations of Farber disease in a new mouse model"],"prefix":"10.1515","volume":"399","author":[{"given":"Nadine","family":"Beckmann","sequence":"first","affiliation":[{"name":"Department of Molecular Biology , University of Duisburg-Essen , Hufelandstra\u00dfe 55 , D-45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stephanie","family":"Kadow","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology , University of Duisburg-Essen , Hufelandstra\u00dfe 55 , D-45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabian","family":"Schumacher","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology , University of Duisburg-Essen , Hufelandstra\u00dfe 55 , D-45147 Essen , Germany"},{"name":"Department of Toxicology , Institute of Nutritional Science , University of Potsdam , Arthur-Scheunert-Allee 114-116 , D-14558 Nuthetal , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joachim R.","family":"G\u00f6thert","sequence":"additional","affiliation":[{"name":"Department of Hematology , University Hospital Essen , Hufelandstra\u00dfe 55 , D-45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefanie","family":"Kesper","sequence":"additional","affiliation":[{"name":"Department of Hematology , University Hospital Essen , Hufelandstra\u00dfe 55 , D-45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annette","family":"Draeger","sequence":"additional","affiliation":[{"name":"Institute of Anatomy , University of Bern, Baltzerstr. 2 , CH-3012 Bern , Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Walter J.","family":"Schulz-Schaeffer","sequence":"additional","affiliation":[{"name":"Insitute of Neuropathology , University of the Saarland , Kirrberger Str. 100 , D-66421 Homburg , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiang","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine , UC Health University Hospital , 234 Goodman Street , Cincinnati, OH 45219 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan U.","family":"Becker","sequence":"additional","affiliation":[{"name":"Institute of Pathology , University Hospital Cologne, Kerpener Stra\u00dfe 62 , D-50937 Cologne , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Kramer","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology , University of Duisburg-Essen , Hufelandstra\u00dfe 55 , D-45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudine","family":"K\u00fchn","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology , University of Duisburg-Essen , Hufelandstra\u00dfe 55 , D-45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Burkhard","family":"Kleuser","sequence":"additional","affiliation":[{"name":"Department of Toxicology , Institute of Nutritional Science , University of Potsdam , Arthur-Scheunert-Allee 114-116 , D-14558 Nuthetal , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin Anne","family":"Becker","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology , University of Duisburg-Essen , Hufelandstra\u00dfe 55 , D-45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erich","family":"Gulbins","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology , University of Duisburg-Essen , Hufelandstra\u00dfe 55 , D-45147 Essen , Germany"},{"name":"Department of Surgery , University of Cincinnati , 231 Albert Sabin Way, ML 0558 , Cincinnati, OH 45229 , USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Carpinteiro","sequence":"additional","affiliation":[{"name":"Department of Molecular Biology , University of Duisburg-Essen , Hufelandstra\u00dfe 55 , D-45147 Essen , Germany"},{"name":"Department of Hematology , University Hospital Essen , Hufelandstra\u00dfe 55 , D-45147 Essen , Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","published-online":{"date-parts":[[2018,6,21]]},"reference":[{"key":"2023040406465654902_j_hsz-2018-0170_ref_001_w2aab3b7c37b1b6b1ab2b2b1Aa","doi-asserted-by":"crossref","unstructured":"Alayoubi, A.M., Wang, J.C., Au, B.C., Carpentier, S., Garcia, V., Dworski, S., El-Ghamrasni, S., Kirouac, K.N., Exertier, M.J., Xiong, Z.J., et al. (2013). Systemic ceramide accumulation leads to severe and varied pathological consequences. EMBO Mol. Med. 5, 827\u2013842.","DOI":"10.1002\/emmm.201202301"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_002_w2aab3b7c37b1b6b1ab2b2b2Aa","doi-asserted-by":"crossref","unstructured":"Antonarakis, S.E., Valle, D., Moser, H.W., Moser, A., Qualman, S.J., and Zinkham, W.H. (1984). Phenotypic variability in siblings with Farber disease. J. Pediatr. 104, 406\u2013409.","DOI":"10.1016\/S0022-3476(84)81106-3"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_003_w2aab3b7c37b1b6b1ab2b2b3Aa","unstructured":"Bao, X.H., Tian, J.M., Ji, T.Y., and Chang, X.Z. (2017). [A case report of childhood Farber\u2019s disease and literature review]. Zhonghua Er Ke Za Zhi. 55, 54\u201358."},{"key":"2023040406465654902_j_hsz-2018-0170_ref_004_w2aab3b7c37b1b6b1ab2b2b4Aa","doi-asserted-by":"crossref","unstructured":"Ben-Yoseph, Y., Gagne, R., Parvathy, M.R., Mitchell, D.A., and Momoi, T. (1989). 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Acid ceramidase deficiency in mice results in a broad range of central nervous system abnormalities. Am. J. Pathol. 187, 864\u2013883.","DOI":"10.1016\/j.ajpath.2016.12.005"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_040_w2aab3b7c37b1b6b1ab2b2c40Aa","doi-asserted-by":"crossref","unstructured":"Singh, I., Pahan, K., Khan, M., and Singh, A.K. (1998). Cytokine-mediated induction of ceramide production is redox-sensitive. Implications to proinflammatory cytokine-mediated apoptosis in demyelinating diseases. J. Biol. Chem. 273, 20354\u201320362.","DOI":"10.1074\/jbc.273.32.20354"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_041_w2aab3b7c37b1b6b1ab2b2c41Aa","doi-asserted-by":"crossref","unstructured":"S\u00f3lyom, A., Karabul, N., H\u00fcgle, B., Simonaro, C., and Schuchman, E. (2014). Polyarticular arthritis as presenting feature of Farber disease: a lysosomal storage disease involving inflammation. Pediatr. Rheumatol. 12, P285.","DOI":"10.1186\/1546-0096-12-S1-P285"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_042_w2aab3b7c37b1b6b1ab2b2c42Aa","doi-asserted-by":"crossref","unstructured":"Sugita, M., Dulaney, J.T., and Moser, H.W. (1972). Ceramidase deficiency in Farber\u2019s disease (lipogranulomatosis). Science 178, 1100\u20131102.","DOI":"10.1126\/science.178.4065.1100"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_043_w2aab3b7c37b1b6b1ab2b2c43Aa","doi-asserted-by":"crossref","unstructured":"Sugita, M., Willians, M., Dulaney, J.T., and Moser, H.W. (1975). Ceramidase and ceramide synthesis in human kidney and cerebellum. Description of a new alkaline ceramidase. Biochim. Biophys. Acta 398, 125\u2013131.","DOI":"10.1016\/0005-2760(75)90176-9"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_044_w2aab3b7c37b1b6b1ab2b2c44Aa","doi-asserted-by":"crossref","unstructured":"Teichgr\u00e4ber, V., Ulrich, M., Endlich, N., Riethm\u00fcller, J., Wilker, B., De Oliveira-Munding, C.C., van Heeckeren, A.M., Barr, M.L., von K\u00fcrthy, G., et al. (2008). Ceramide accumulation mediates inflammation, cell death and infection susceptibility in cystic fibrosis. Nat. Med. 14, 382\u2013391.","DOI":"10.1038\/nm1748"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_045_w2aab3b7c37b1b6b1ab2b2c45Aa","doi-asserted-by":"crossref","unstructured":"Torcoletti, M., Petaccia, A., Pinto, R.M., Hladnik, U., Locatelli, F., Agostoni, C., and Corona, F. (2014). Farber disease in infancy resembling juvenile idiopathic arthritis: identification of two new mutations and a good early response to allogeneic haematopoietic stem cell transplantation. Rheumatology (Oxford) 53, 1533\u20131534.","DOI":"10.1093\/rheumatology\/keu010"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_046_w2aab3b7c37b1b6b1ab2b2c46Aa","doi-asserted-by":"crossref","unstructured":"Tsuboi, K., Sun, Y.X., Okamoto, Y., Araki, N., Tonai, T., and Ueda, N. (2005). Molecular characterization of N-acylethanolamine-hydrolyzing acid amidase, a novel member of the choloylglycine hydrolase family with structural and functional similarity to acid ceramidase. J. Biol. Chem. 280, 11082\u201311092.","DOI":"10.1074\/jbc.M413473200"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_047_w2aab3b7c37b1b6b1ab2b2c47Aa","doi-asserted-by":"crossref","unstructured":"Vasiliauskaite-Brooks, I., Sounier, R., Rochaix, P., Bellot, G., Fortier, M., Hoh, F., De Colibus, L., Bechara, C., Saied, E.M., Arenz, C., et al. (2017). Structural insights into adiponectin receptors suggest ceramidase activity. Nature 544, 120\u2013123.","DOI":"10.1038\/nature21714"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_048_w2aab3b7c37b1b6b1ab2b2c48Aa","doi-asserted-by":"crossref","unstructured":"Yeager, A.M., Uhas, K.A., Coles, C.D., Davis, P.C., Krause, W.L., and Moser, H.W. (2000). Bone marrow transplantation for infantile ceramidase deficiency (Farber disease). Bone Marrow Transplant. 26, 357\u2013363.","DOI":"10.1038\/sj.bmt.1702489"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_049_w2aab3b7c37b1b6b1ab2b2c49Aa","doi-asserted-by":"crossref","unstructured":"Yu, F.P., Islam, D., Sikora, J., Dworski, S., Gurka, J., Lopez-Vasquez, L., Liu, M., Kuebler, W.M., Levade, T., Zhang, H., et al. (2018). Chronic lung injury and impaired pulmonary function in a mouse model of acid ceramidase deficiency. Am. J. Physiol. Lung Cell. Mol. Physiol. 314, L406\u2013L420.","DOI":"10.1152\/ajplung.00223.2017"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_050_w2aab3b7c37b1b6b1ab2b2c50Aa","doi-asserted-by":"crossref","unstructured":"Zaugg, P., Djonov, V., Fuchtbauer, E.M., and Draeger, A. (1999). Sorting of murine vascular smooth muscle cells during wound healing in the chicken chorioallantoic membrane. Exp. Cell. Res. 253, 599\u2013606.","DOI":"10.1006\/excr.1999.4712"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_051_w2aab3b7c37b1b6b1ab2b2c51Aa","doi-asserted-by":"crossref","unstructured":"Zhang, Z., Mandal, A.K., Mital, A., Popescu, N., Zimonjic, D., Moser, A., Moser, H., and Mukherjee, A.B. (2000). Human acid ceramidase gene: novel mutations in Farber disease. Mol. Genet. Metab. 70, 301\u2013309.","DOI":"10.1006\/mgme.2000.3029"},{"key":"2023040406465654902_j_hsz-2018-0170_ref_052_w2aab3b7c37b1b6b1ab2b2c52Aa","doi-asserted-by":"crossref","unstructured":"Zhou, J., Tawk, M., Tiziano, F.D., Veillet, J., Bayes, M., Nolent, F., Garcia, V., Servidei, S., Bertini, E., Castro-Giner, F., et al. (2012). Spinal muscular atrophy associated with progressive myoclonic epilepsy is caused by mutations in ASAH1. Am. J. Hum. 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