Activator protein deficient Gaucher's disease (original) (raw)
Access this article
Subscribe and save
- Get 10 units per month
- Download Article/Chapter or eBook
- 1 Unit = 1 Article or 1 Chapter
- Cancel anytime Subscribe now
Buy Now
Price excludes VAT (USA)
Tax calculation will be finalised during checkout.
Instant access to the full article PDF.
References
- Brady RO, Kanfer JN, Shapiro D (1965) Metabolism of glucocerebroside II. Evidence for an enzymatic deficiency in Gaucher's disease. Biochem Biophys Res Commun 18:221–225
Google Scholar - Choy FYM, Davidson RG (1980) Gaucher disease. III. Substrate specificity of glucocerebrosidase and the use of nonlabeled natural substrates for the investigation of patients. Am J Hum Genet 32:670–680
Google Scholar - Christomanou H (1980) Niemann-Pick disease, type C: evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation. Hoppe-Seyler's Z Physiol Chem 361:1489–1502
Google Scholar - Christomanou H, Kleinschmidt T (1985) Isolation of two forms of an activator protein for the enzymic sphingomyelin degradation from human Gaucher spleen. Biol Chem Hoppe-Seyler 366:245–256
Google Scholar - Christomanou H, Aignesberger A (1986a) Two heat-stable low-molecular-mass proteins stimulating the enzymic sphingomyelin degradation isolated from human Gaucher and normal spleen. In: Freysz L, Dreyfus H, Massarelli R, Gatt S (eds) Enzymes of lipid metabolism II. Plenum Press, New York, pp 353–360
Google Scholar - Christomanou H, Aignesberger A, Linke RP (1986b) Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro. Absence of one of them in a human Gaucher disease variant. Biol Chem Hoppe-Seyler 367:879–890
Google Scholar - Christomanou H, Aignesberger A, Herschkowitz N, Wiesmann UN (1988) Etiology of a new identified Gaucher disease variant without glucosylceramidase defect. In: Salvayre R, Douste-Blazy L, Gatt S (eds) Enzymes of lipid metabolism III. Plenum Press, New York, pp 89–97
Google Scholar - Conzelmann E, Sandhoff K (1978) AB variant of infantile GM2 gangliosidosis. Deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2. Proc Natl Acad Sci USA 75:3979–3983
Google Scholar - Conzelmann E, Sandhoff K (1979) Purification and characterization of an activator protein for the degradation of glycolipids GM2 and GA2 by hexosaminidase A. Hoppe-Seyler's Z Physiol Chem 360:1837–1849
Google Scholar - Fischer G, Jatzkewitz H (1978) The activator of cerebroside-sulfatase. A model of the activation. Biochim Biophys Acta 528:69–76
Google Scholar - Folch J, Lee M, Sloane-Stanley GH (1957) A simple method for the isolation and purification of total lipids from animal tissues. J Biol Chem 226:497–509
Google Scholar - Fürst W, Machleidt W, Sandhoff K (1988) The precursor of sulfatide activator protein is processed to three different proteins. Biol Chem Hoppe-Seyler 369:317–328
Google Scholar - Gaucher PCE (1882) De L'épithéliome primitif de la rate. Thesis, Paris
Google Scholar - Gonzalez-Sastre F, Pámpols T, Sabater J (1974) Infantile Gaucher's disease: a biochemical study. Neurology 24:162–167
Google Scholar - Ho MW, O'Brien JS (1971) Gaucher's disease: deficiency of “acid” β-glucosidase and reconstitution of enzyme activity in vitro. Proc Natl Acad Sci USA 68:2810–2813
Google Scholar - Inui K, Emmet M, Wenger DA (1983) Immunological evidence for deficiency in an activator protein for sulfatide sulfatase in a variant form of metachromatic leukodystrophy. Proc Natl Acad Sci USA 80:3074–3077
Google Scholar - Kleinschmidt T, Christomanou H, Braunitzer G (1987) Complete amino-acid sequence and carbohydrate content of the naturally occurring glucosylceramide activator protein (A1 activator) absent from a new human Gaucher disease variant. Biol Chem Hoppe-Seyler 368:1571–1578
Google Scholar - Lowry OH, Rosebrough NJ, Farr AL, Randall RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193:265–275
Google Scholar - O'Brien JS, Kretz KA, Dewji N, Wenger DA, Esch F, Fluharty AL (1988) Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus. Science 241:1098–1101
Google Scholar - Peters SP, Coyle P, Glew RH (1976) Differentiation of a β glucocerebrosidase from β-glucosidase in human tissues using sodium taurocholate. Arch Biochem Biophys 175:569–582
Google Scholar - Skoog WA, Beck WS (1956) Studies on the fibrinogen, dextran and phytohemagglutinin methods of isolating leucocytes. Blood 11:436–454
Google Scholar - Stevens RL, Fluharty AL, Kihara H, Kaback MM, Shapiro LJ, Marsh B, Sandhoff K, Fischer G (1981) Cerebroside sulfatase activator deficiency induced metachromatic leucodystrophy. Am J Hum Genet 33:900–906
Google Scholar - Svennerhom L, Dreborg S, Erikson A, Groth CG, Hillborg PO, Hakansson G, Nilsson O, Tibblin E (1982) Gaucher disease of the Norrbottnian type (type III). Phenotypic manifestations. In: Desnick RJ, Gatt S, Grabowski GA (eds) Gaucher disease: a century of delineation and research. Alan R Liss, New York, pp 67–94
Google Scholar - Wenger DA, Clark C, Sattler M, Wharton C (1978) Synthetic substrate β glucosidase activity in leukocytes: a reproducible method for the identification of patients and carriers of Gaucher's disease. Clin Genet 13:145–153
Google Scholar