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2. Characterization of a proton-driven carrier for sialic acid in the lysosomal membrane. Evidence for a group-specific transport system for acidic monosaccharides. Mancini GM; de Jonge HR; Galjaard H; Verheijen FW J Biol Chem; 1989 Sep; 264(26):15247-54. PubMed ID: 2768261 [TBL] [Abstract][Full Text] [Related]
3. Functional reconstitution of the lysosomal sialic acid carrier into proteoliposomes. Mancini GM; Beerens CE; Galjaard H; Verheijen FW Proc Natl Acad Sci U S A; 1992 Jul; 89(14):6609-13. PubMed ID: 1631163 [TBL] [Abstract][Full Text] [Related]
4. Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. Blom HJ; Andersson HC; Seppala R; Tietze F; Gahl WA Biochem J; 1990 Jun; 268(3):621-5. PubMed ID: 2363700 [TBL] [Abstract][Full Text] [Related]
6. Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter. Havelaar AC; Mancini GM; Beerens CE; Souren RM; Verheijen FW J Biol Chem; 1998 Dec; 273(51):34568-74. PubMed ID: 9852127 [TBL] [Abstract][Full Text] [Related]
7. Glucose transport in lysosomal membrane vesicles. Kinetic demonstration of a carrier for neutral hexoses. Mancini GM; Beerens CE; Verheijen FW J Biol Chem; 1990 Jul; 265(21):12380-7. PubMed ID: 2373697 [TBL] [Abstract][Full Text] [Related]
8. Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. Tietze F; Seppala R; Renlund M; Hopwood JJ; Harper GS; Thomas GH; Gahl WA J Biol Chem; 1989 Sep; 264(26):15316-22. PubMed ID: 2768266 [TBL] [Abstract][Full Text] [Related]
9. Studies of lysosomal sialic acid metabolism: retention of sialic acid by Salla disease lysosomes. Jonas AJ Biochem Biophys Res Commun; 1986 May; 137(1):175-81. PubMed ID: 3718508 [TBL] [Abstract][Full Text] [Related]
10. [Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)]. Yano T; Ohno K Nihon Rinsho; 1995 Dec; 53(12):3068-71. PubMed ID: 8577060 [TBL] [Abstract][Full Text] [Related]
11. Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts. Renlund M; Kovanen PT; Raivio KO; Aula P; Gahmberg CG; Ehnholm C J Clin Invest; 1986 Feb; 77(2):568-74. PubMed ID: 3944269 [TBL] [Abstract][Full Text] [Related]
12. [Genetic disorders of N-acetylneuraminic acid metabolism: sialurias and sialidoses]. Strecker G C R Seances Soc Biol Fil; 1985; 179(5):567-76. PubMed ID: 2938684 [TBL] [Abstract][Full Text] [Related]
13. Renal handling of free sialic acid in normal humans and patients with Salla disease or renal disease. Seppala R; Renlund M; Bernardini I; Tietze F; Gahl WA Lab Invest; 1990 Aug; 63(2):197-203. PubMed ID: 2381164 [TBL] [Abstract][Full Text] [Related]
14. Defective lysosomal release of glycoprotein-derived sialic acid in fibroblasts from patients with sialic acid storage disease. Mendla K; Baumkötter J; Rosenau C; Ulrich-Bott B; Cantz M Biochem J; 1988 Feb; 250(1):261-7. PubMed ID: 2451509 [TBL] [Abstract][Full Text] [Related]
15. Infantile sialic acid storage disease: the fate of biosynthetically labeled N-acetyl-(3H)-neuraminic acid in cultured human fibroblasts. Paschke E; Höfler G; Roscher A Pediatr Res; 1986 Aug; 20(8):773-7. PubMed ID: 2942833 [TBL] [Abstract][Full Text] [Related]
16. Free N-acetylneuraminic acid (NANA) storage disorders: evidence for defective NANA transport across the lysosomal membrane. Mancini GM; Verheijen FW; Galjaard H Hum Genet; 1986 Jul; 73(3):214-7. PubMed ID: 3733077 [TBL] [Abstract][Full Text] [Related]
17. Biosynthesis of lysosomal proteinases in health and disease. Mach L Biol Chem; 2002 May; 383(5):751-6. PubMed ID: 12108539 [TBL] [Abstract][Full Text] [Related]
18. A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Verheijen FW; Verbeek E; Aula N; Beerens CE; Havelaar AC; Joosse M; Peltonen L; Aula P; Galjaard H; van der Spek PJ; Mancini GM Nat Genet; 1999 Dec; 23(4):462-5. PubMed ID: 10581036 [TBL] [Abstract][Full Text] [Related]
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20. A functional role for histidyl residues of the UDP-glucuronic acid carrier in rat liver endoplasmic reticulum membranes. Battaglia E; Radominska-Pandya A Biochemistry; 1998 Jan; 37(1):258-63. PubMed ID: 9425046 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]