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GD2 Expression in Medulloblastoma and Neuroblastoma for Personalized Immunotherapy: A Matter of Subtype.
Paret C, Ustjanzew A, Ersali S, Seidmann L, Jennemann R, Ziegler N, Malki KE, Russo A, Wingerter A, Ortmüller F, Bornas A, Wehling PC, Lepădatu A, Ottenhausen M, Roth W, Sommer C, Fliss B, Frauenknecht KBM, Sandhoff R, Faber J. Paret C, et al. Among authors: sandhoff r. Cancers (Basel). 2022 Dec 8;14(24):6051. doi: 10.3390/cancers14246051. Cancers (Basel). 2022. PMID: 36551537 Free PMC article.
Species-specific differences in nonlysosomal glucosylceramidase GBA2 function underlie locomotor dysfunction arising from loss-of-function mutations.
Woeste MA, Stern S, Raju DN, Grahn E, Dittmann D, Gutbrod K, Dörmann P, Hansen JN, Schonauer S, Marx CE, Hamzeh H, Körschen HG, Aerts JMFG, Bönigk W, Endepols H, Sandhoff R, Geyer M, Berger TK, Bradke F, Wachten D. Woeste MA, et al. Among authors: sandhoff r. J Biol Chem. 2019 Mar 15;294(11):3853-3871. doi: 10.1074/jbc.RA118.006311. Epub 2019 Jan 20. J Biol Chem. 2019. PMID: 30662006 Free PMC article.
Epidermal 1-O-acylceramides appear with the establishment of the water permeability barrier in mice and are produced by maturating keratinocytes.
Rabionet M, Bernard P, Pichery M, Marsching C, Bayerle A, Dworski S, Kamani MA, Chitraju C, Gluchowski NL, Gabriel KR, Asadi A, Ebel P, Hoekstra M, Dumas S, Ntambi JM, Jacobsson A, Willecke K, Medin JA, Jonca N, Sandhoff R. Rabionet M, et al. Among authors: sandhoff r. Lipids. 2022 May;57(3):183-195. doi: 10.1002/lipd.12342. Epub 2022 Mar 23. Lipids. 2022. PMID: 35318678
PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier.
Pichery M, Huchenq A, Sandhoff R, Severino-Freire M, Zaafouri S, Opálka L, Levade T, Soldan V, Bertrand-Michel J, Lhuillier E, Serre G, Maruani A, Mazereeuw-Hautier J, Jonca N. Pichery M, et al. Among authors: sandhoff r. Hum Mol Genet. 2017 May 15;26(10):1787-1800. doi: 10.1093/hmg/ddx079. Hum Mol Genet. 2017. PMID: 28369476
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease.
Yildiz Y, Hoffmann P, Vom Dahl S, Breiden B, Sandhoff R, Niederau C, Horwitz M, Karlsson S, Filocamo M, Elstein D, Beck M, Sandhoff K, Mengel E, Gonzalez MC, Nöthen MM, Sidransky E, Zimran A, Mattheisen M. Yildiz Y, et al. Among authors: sandhoff k, sandhoff r. Orphanet J Rare Dis. 2013 Sep 26;8:151. doi: 10.1186/1750-1172-8-151. Orphanet J Rare Dis. 2013. PMID: 24070122 Free PMC article.
91 results