| 1 | PSAP, SAPB, SAPD
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| Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations.
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| Kuchar L, Ledvinová J, Hrebícek M, Mysková H, Dvoráková L, Berná L, Chrastina P, Asfaw B, Elleder M, Petermöller M, Mayrhofer H, Staudt M, Krägeloh-Mann I, Paton BC, Harzer K.
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| Am J Med Genet A 149A(4):613-21. 2009
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| 2 | ARSA, LDM, PSAP, SAPB
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| Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
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| Grossi S, Regis S, Rosano C, Corsolini F, Uziel G, Sessa M, Di Rocco M, Parenti G, Deodato F, Leuzzi V, Biancheri R, Filocamo M.
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| Hum Mutat 29(11):E220-30.
2008
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| 3 | SAPB
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| Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.
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| Regis S, Filocamo M, Corsolini F, Caroli F, Keulemans JL, van Diggelen OP, Gatti R.
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| Eur J Hum Genet 7(2):125-30. 1999
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| 4 | SAPB, PSAP
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| Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy.
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| Henseler M, et al.
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| Am J Hum Genet 58 : 65-74. 1996
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| 5 | ARSA, LDM, SAPB
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| Molecular genetics of metachromatic leukodystrophy.
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| Gieselmann V, et al.
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| Hum Mutat 4 : 233-242. 1994
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| 6 | SAPB
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| The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy.
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| Zhang XL, Rafi MA, DeGala G, Wenger DA.
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| Hum Genet 87(2):211-5. 1991
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| 7 | SAPB
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| Characterization of a mutation in a family with saposin B deficiency : a glycosylation site defect.
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| Kretz KA, et al.
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| Proc Natl Acad Sci U S A 87 : 2541-2544. 1990
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| 8 | SAPB
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| Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.
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| Rafi MA, et al.
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| Biochem Biophys Res Commun 166 : 1017-1023. 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 | SAPB
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| Regional localization of the gene coding for sphingolipid activator protein SAP-1 on human chromosome 10.
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| Kao FT, et al.
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| Somat Cell Mol Genet 13 : 685-688. 1987
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| 12 | SAPB
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| Molecular cloning of the sphingolipid activator protein - 1(SAP-1), the sulfatide sulfatase activator.
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| Dewji N, Wenger D, Fujibayashi S, Donoviel M, Esch F, Hill F, O'Brien JS.
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| Biochem Biophys Res Commun 134 : 989-994. 1986
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| 13 | SAPB
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| The gene coding for a sphingolipid activator protein, SAP-1, is on human chromosome 10.
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| Inui K, et al.
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| Hum Genet 69 : 197-200. 1985
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| 14 | SAPB
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| Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy.
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| Stevens RL, et al.
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| Am J Hum Genet 33 : 900-906. 1981
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