| 1 | PSAP, SAPC
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| A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.
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| Siri L, Rossi A, Lanza F, Mazzotti R, Costa A, Stroppiano M, Gaiero A, Cohen A, Biancheri R, Filocamo M.
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| Neurogenetics 15(2):101-6. doi: 10.1007/s10048-014-0390-4. Epub 2014 Jan 31.
2014
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| 2 | PSAP, SAPC
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| Cathepsin-mediated regulation of autophagy in saposin C deficiency.
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| Tatti M, Motta M, Di Bartolomeo S, Cianfanelli V, Salvioli R.
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| Autophagy 9(2):241-3. doi: 10.4161/auto.22557. Epub 2012 Oct 29.
2013
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| 3 | PSAP, SAPC
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| Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse.
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| Sun Y, Ran H, Zamzow M, Kitatani K, Skelton MR, Williams MT, Vorhees CV, Witte DP, Hannun YA, Grabowski GA.
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| Hum Mol Genet 19(4):634-47. Epub 2009 Dec 16.PMID: 20015957 2010
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| 4 | PSAP, SAPC
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| Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.
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| Vaccaro AM, Motta M, Tatti M, Scarpa S, Masuelli L, Bhat M, Vanier MT, Tylki-Szymanska A, Salvioli R.
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| Hum Mol Genet 19(15):2987-97. Epub 2010 May 19.PMID: 20484222 2010
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| 5 | PSAP, SAPC
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| Non-neuronopathic Gaucher disease due to saposin C deficiency.
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| Tylki-Szyma–ska A, Czartoryska B, Vanier MT, Poorthuis BJ, Groener JA, Ługowska A, Millat G, Vaccaro AM, Jurkiewicz E.
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| Clin Genet 72(6):538-42. Epub 2007 Oct 7. 2007
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| 6 | SAPC
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| Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency.
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| Rafi MA, et al.
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| Somat Cell Mol Genet 19 : 1-7. 1993
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| 7 | SAPC
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| Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.
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| Schnabel D, et al.
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| FEBS Lett 284 : 57-59. 1991
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| 8 | SAPC
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| Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency.
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| Zhang XL, et al.
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| Proc Natl Acad Sci U S A 87 : 1426-1430. 1990
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| 9 | PSAP, SAPB, SAPC
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| Molecular cloning of a human Co-beta-glucosidase cDNA: evidence that four sphingolipid hydrolase activator proteins are encoded by single genes in humans and rats.
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| Rorman EG, Grabowski GA.
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| Genomics 5(3):486-92. 1989
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| 10 | SAPB, SAPC, PSAP
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| Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus.
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| O'Brien JS, et al.
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| Science 241 : 1098-1101. 1988
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| 11 | SAPC
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| Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro : absence of one of them in a human Gaucher disease variant.
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| Christomanou H, et al.
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| Biol Chem Hoppe-Seyler 367 : 879-890. 1986
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| 12 | SAPC
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| Assignment of the gene for human sphingolipid activator protein-2 (SAP-2) to chromosome 10.
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| Fujibayashi S, et al.
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| Am J Hum Genet 37 : 741-748. 1985
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