181 related articles for article (PubMed ID: 1350885)
1. Correction of sulfatide metabolism after transfer of prosaposin cDNA to cultured cells from a patient with SAP-1 deficiency.
Rafi MA; Amini S; Zhang XL; Wenger DA
Am J Hum Genet; 1992 Jun; 50(6):1252-8. PubMed ID: 1350885
[TBL] [Abstract][Full Text] [Related]
2. Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.
Zhang XL; Rafi MA; DeGala G; Wenger DA
Proc Natl Acad Sci U S A; 1990 Feb; 87(4):1426-30. PubMed ID: 1689485
[TBL] [Abstract][Full Text] [Related]
3. Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.
Rafi MA; Zhang XL; DeGala G; Wenger DA
Biochem Biophys Res Commun; 1990 Jan; 166(2):1017-23. PubMed ID: 2302219
[TBL] [Abstract][Full Text] [Related]
4. Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy.
Henseler M; Klein A; Reber M; Vanier MT; Landrieu P; Sandhoff K
Am J Hum Genet; 1996 Jan; 58(1):65-74. PubMed ID: 8554069
[TBL] [Abstract][Full Text] [Related]
5. A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).
Wrobe D; Henseler M; Huettler S; Pascual Pascual SI; Chabas A; Sandhoff K
J Inherit Metab Dis; 2000 Feb; 23(1):63-76. PubMed ID: 10682309
[TBL] [Abstract][Full Text] [Related]
6. Saposin B-dependent reconstitution of arylsulfatase A activity in vitro and in cell culture models of metachromatic leukodystrophy.
Matzner U; Breiden B; Schwarzmann G; Yaghootfam A; Fluharty AL; Hasilik A; Sandhoff K; Gieselmann V
J Biol Chem; 2009 Apr; 284(14):9372-81. PubMed ID: 19224915
[TBL] [Abstract][Full Text] [Related]
7. Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.
Kretz KA; Carson GS; Morimoto S; Kishimoto Y; Fluharty AL; O'Brien JS
Proc Natl Acad Sci U S A; 1990 Apr; 87(7):2541-4. PubMed ID: 2320574
[TBL] [Abstract][Full Text] [Related]
8. 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
Biochem J; 1992 Jul; 285 ( Pt 2)(Pt 2):481-8. PubMed ID: 1637339
[TBL] [Abstract][Full Text] [Related]
9. The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy.
Zhang XL; Rafi MA; DeGala G; Wenger DA
Hum Genet; 1991 Jun; 87(2):211-5. PubMed ID: 2066109
[TBL] [Abstract][Full Text] [Related]
10. Biosynthesis of the sulfatide/GM1 activator protein (SAP-1) in control and mutant cultured skin fibroblasts.
Fujibayashi S; Wenger DA
Biochim Biophys Acta; 1986 Feb; 875(3):554-62. PubMed ID: 3081038
[TBL] [Abstract][Full Text] [Related]
11. Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity. A clinical, morphological, biochemical, and immunological study.
Schlote W; Harzer K; Christomanou H; Paton BC; Kustermann-Kuhn B; Schmid B; Seeger J; Beudt U; Schuster I; Langenbeck U
Eur J Pediatr; 1991 Jun; 150(8):584-91. PubMed ID: 1683286
[TBL] [Abstract][Full Text] [Related]
12. Metabolism of GM1 ganglioside in cultured skin fibroblasts: anomalies in gangliosidoses, sialidoses, and sphingolipid activator protein (SAP, saposin) 1 and prosaposin deficient disorders.
Schmid B; Paton BC; Sandhoff K; Harzer K
Hum Genet; 1992 Jul; 89(5):513-8. PubMed ID: 1634229
[TBL] [Abstract][Full Text] [Related]
13. Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency.
Rafi MA; de Gala G; Zhang XL; Wenger DA
Somat Cell Mol Genet; 1993 Jan; 19(1):1-7. PubMed ID: 8460394
[TBL] [Abstract][Full Text] [Related]
14. [Pathophysiology of sulfatide metabolism in metachromatic leukodystrophy].
Wiesmann UN
Bull Schweiz Akad Med Wiss; 1978 Mar; 34(1-3):33-47. PubMed ID: 27269
[TBL] [Abstract][Full Text] [Related]
15. Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease.
Bradová V; Smíd F; Ulrich-Bott B; Roggendorf W; Paton BC; Harzer K
Hum Genet; 1993 Sep; 92(2):143-52. PubMed ID: 8370580
[TBL] [Abstract][Full Text] [Related]
16. Importance of splicing for prosaposin sorting.
Madar-Shapiro L; Pasmanik-Chor M; Vaccaro AM; Dinur T; Dagan A; Gatt S; Horowitz M
Biochem J; 1999 Feb; 337 ( Pt 3)(Pt 3):433-43. PubMed ID: 9895286
[TBL] [Abstract][Full Text] [Related]
17. Isolation, characterization, and proteolysis of human prosaposin, the precursor of saposins (sphingolipid activator proteins).
Hiraiwa M; O'Brien JS; Kishimoto Y; Galdzicka M; Fluharty AL; Ginns EI; Martin BM
Arch Biochem Biophys; 1993 Jul; 304(1):110-6. PubMed ID: 8323276
[TBL] [Abstract][Full Text] [Related]
18. 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
J Biol Chem; 1992 Feb; 267(5):3312-5. PubMed ID: 1371116
[TBL] [Abstract][Full Text] [Related]
19. Accumulation of sphingolipids in SAP-precursor (prosaposin)-deficient fibroblasts occurs as intralysosomal membrane structures and can be completely reversed by treatment with human SAP-precursor.
Burkhardt JK; Hüttler S; Klein A; Möbius W; Habermann A; Griffiths G; Sandhoff K
Eur J Cell Biol; 1997 May; 73(1):10-8. PubMed ID: 9174667
[TBL] [Abstract][Full Text] [Related]
20. Characterization of a recombinant molecule covalently indistinguishable from human cerebroside-sulfate activator protein (CSAct or Saposin B).
Whitelegge JP; Ahn V; Norris AJ; Sung H; Waring A; Stevens RL; Fluharty CB; Prive G; Faull KF; Fluharty AL
Cell Mol Biol (Noisy-le-grand); 2003 Jul; 49(5):799-807. PubMed ID: 14528917
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]