MeSH Review:
Sialic Acid Storage Disease
- A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. Verheijen, F.W., Verbeek, E., Aula, N., Beerens, C.E., Havelaar, A.C., Joosse, M., Peltonen, L., Aula, P., Galjaard, H., van der Spek, P.J., Mancini, G.M. Nat. Genet. (1999)
- At the acidic edge: emerging functions for lysosomal membrane proteins. Eskelinen, E.L., Tanaka, Y., Saftig, P. Trends Cell Biol. (2003)
- Nephrosis in two siblings with infantile sialic acid storage disease. Sperl, W., Gruber, W., Quatacker, J., Monnens, L., Thoenes, W., Fink, F.M., Paschke, E. Eur. J. Pediatr. (1990)
- Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE). Kayashima, T., Matsuo, H., Satoh, A., Ohta, T., Yoshiura, K., Matsumoto, N., Nakane, Y., Niikawa, N., Kishino, T. J. Hum. Genet. (2002)
- Pulmonary emphysema in a nonsmoking patient with Salla disease. Pääkkö, P., Ryhänen, L., Rantala, H., Autio-Harmainen, H. Am. Rev. Respir. Dis. (1987)
- Central and peripheral nervous system dysfunction in the clinical variation of Salla disease. Varho, T., Jääskeläinen, S., Tolonen, U., Sonninen, P., Vainionpää, L., Aula, P., Sillanpää, M. Neurology (2000)
- Defective sialic acid egress from isolated fibroblast lysosomes of patients with Salla disease. Renlund, M., Tietze, F., Gahl, W.A. Science (1986)
- 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, P.T., Raivio, K.O., Aula, P., Gahmberg, C.G., Ehnholm, C. J. Clin. Invest. (1986)
- Dominant inheritance of sialuria, an inborn error of feedback inhibition. Leroy, J.G., Seppala, R., Huizing, M., Dacremont, G., De Simpel, H., Van Coster, R.N., Orvisky, E., Krasnewich, D.M., Gahl, W.A. Am. J. Hum. Genet. (2001)
- Mutations in the human UDP-N-acetylglucosamine 2-epimerase gene define the disease sialuria and the allosteric site of the enzyme. Seppala, R., Lehto, V.P., Gahl, W.A. Am. J. Hum. Genet. (1999)
- Functional characterization of wild-type and mutant human sialin. Morin, P., Sagné, C., Gasnier, B. EMBO J. (2004)
- Sialic acid metabolism in sialuria fibroblasts. Seppala, R., Tietze, F., Krasnewich, D., Weiss, P., Ashwell, G., Barsh, G., Thomas, G.H., Packman, S., Gahl, W.A. J. Biol. Chem. (1991)
- Identification of the metabolic defect in sialuria. Weiss, P., Tietze, F., Gahl, W.A., Seppala, R., Ashwell, G. J. Biol. Chem. (1989)
- Metabolic selection of glycosylation defects in human cells. Yarema, K.J., Goon, S., Bertozzi, C.R. Nat. Biotechnol. (2001)
- Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes. Renlund, M., Aula, P. Am. J. Med. Genet. (1987)
- Evidence for non-lysosomal storage of N-acetylneuraminic acid (sialic acid) in sialuria fibroblasts. Thomas, G.H., Scocca, J., Miller, C.S., Reynolds, L. Clin. Genet. (1989)
- Neuraminic acid derivatives newly discovered in humans: N-acetyl-9-O-L-lactoylneuraminic acid, N,9-O-Diacetylneuraminic acid and N-acetyl-2,3-dehydro-2-deoxyneuraminic acid. Haverkamp, J., Schauer, R., Wember, M. Hoppe-Seyler's Z. Physiol. Chem. (1976)
- Determination of sialic acids in biological fluids using reversed-phase ion-pair high-performance liquid chromatography. Siskos, P.A., Spyridaki, M.H. J. Chromatogr. B Biomed. Sci. Appl. (1999)
- A new metabolite contributing to N-acetyl signal in 1H MRS of the brain in Salla disease. Varho, T., Komu, M., Sonninen, P., Holopainen, I., Nyman, S., Manner, T., Sillanpää, M., Aula, P., Lundbom, N. Neurology (1999)
- Report on two patients with Costello syndrome and sialuria. Di Rocco, M., Gatti, R., Gandullia, P., Barabino, A., Picco, P., Borrone, C. Am. J. Med. Genet. (1993)
- Establishment and characterization of an Epstein-Barr virus-transformed B cell line, KM/C8, from a patient with infantile sialic acid storage disease. Nagatsuka, Y., Nakano, C., Nemoto, N., Jike, T., Ono, Y., Hirabayashi, Y. Biochim. Biophys. Acta (1998)
- Magnesium may help patients with recessive hereditary inclusion body myopathy, a pathological review. Darvish, D. Med. Hypotheses (2003)
- Prenatal diagnosis and confirmation of infantile sialic acid storage disease. Vamos, E., Libert, J., Elkhazen, N., Jauniaux, E., Hustin, J., Wilkin, P., Baumkötter, J., Mendla, K., Cantz, M., Strecker, G. Prenat. Diagn. (1986)