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Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene.
Schnabel D, Schröder M, Fürst W, Klein A, Hurwitz R, Zenk T, Weber J, Harzer K, Paton BC, Poulos A, et al. Schnabel D, et al. Among authors: poulos a. J Biol Chem. 1992 Feb 15;267(5):3312-5. J Biol Chem. 1992. PMID: 1371116 Free article.
SAP-1, SAP-2, and two additional potential activator proteins are derived from a common precursor by proteolytic processing. A severe case of sphingolipid storage disease that led to death within 16 weeks was attributed to a possible total deficiency of the S …
SAP-1, SAP-2, and two additional potential activator proteins are derived from a common precursor by proteolytic processing. A …
Additional biochemical findings in a patient and fetal sibling with a genetic defect in the sphingolipid activator protein (SAP) precursor, prosaposin. Evidence for a deficiency in SAP-1 and for a normal lysosomal neuraminidase.
Paton BC, Schmid B, Kustermann-Kuhn B, Poulos A, Harzer K. Paton BC, et al. Among authors: poulos a. Biochem J. 1992 Jul 15;285 ( Pt 2)(Pt 2):481-8. doi: 10.1042/bj2850481. Biochem J. 1992. PMID: 1637339 Free PMC article.
Hoppe-Seyler 369, 317-328 and O'Brien, Kretz, Dewji, Wenger, Esch & Fluharty (1988) Science 241, 1098-1101]. We have undertaken further biochemical investigations on a patient and fetal sibling, who were previously shown to have a unique sphingolipid storage dis …
Hoppe-Seyler 369, 317-328 and O'Brien, Kretz, Dewji, Wenger, Esch & Fluharty (1988) Science 241, 1098-1101]. We have undertaken further …
A case of combined Farber and Sandhoff disease.
Fusch C, Huenges R, Moser HW, Sewell AC, Roggendorf W, Kustermann-Kuhn B, Poulos A, Carey WF, Harzer K. Fusch C, et al. Among authors: poulos a. Eur J Pediatr. 1989 Apr;148(6):558-62. doi: 10.1007/BF00441558. Eur J Pediatr. 1989. PMID: 2744019
293 results