Citations for
1GRN, PSAP
The interaction between progranulin and prosaposin is mediated by granulins and the linker region between saposin B and C.
Zhou X, Sullivan PM, Sun L, Hu F.
J Neurochem Neurochem. 2017 Jun 22. doi: 10.1111/jnc.14110. [Epub ahead of print] 2017
2GRN, PSAP
Impaired prosaposin lysosomal trafficking in frontotemporal lobar degeneration due to progranulin mutations.
Zhou X, Sun L, Bracko O, Choi JW, Jia Y, Nana AL, Brady OA, Hernandez JCC, Nishimura N, Seeley WW, Hu F.
Nat Commun 8:15277. doi: 10.1038/ncomms15277. 2017
3CLN3, CTSD, PSAP
Role of the Lysosomal Membrane Protein, CLN3, in the Regulation of Cathepsin D Activity.
Cárcel-Trullols J, Kovács AD, Pearce DA.
J Cell Biochem 118(11):3883-3890. doi: 10.1002/jcb.26039. Epub 2017 May 23. 2017
4GRN, PSAP
Prosaposin is a regulator of progranulin levels and oligomerization.
Nicholson AM, Finch NA, Almeida M, Perkerson RB, van Blitterswijk M, Wojtas A, Cenik B, Rotondo S, Inskeep V, Almasy L, Dyer T, Peralta J, Jun G, Wood AR, Frayling TM, Fuchsberger C, Fowler S, Teslovich TM, Manning AK, Kumar S, Curran J, Lehman D, Abecasis G, Duggirala R, Pottier C, Zahir HA, Crook JE, Karydas A, Mitic L, Sun Y, Dickson DW, Bu G, Herz J, Yu G, Miller BL, Ferguson S, Petersen RC, Graff-Radford N, Blangero J, Rademakers R.
Nat Commun 7:11992. doi: 10.1038/ncomms11992. 2016
5PSAP
Clinical, biochemical and molecular characterization of prosaposin deficiency.
Motta M, Tatti M, Furlan F, Celato A, Di Fruscio G, Polo G, Manara R, Nigro V, Tartaglia M, Burlina A, Salvioli R.
Clin Genet 90(3):220-9. doi: 10.1111/cge.12753. Epub 2016 Feb 19. 2016
6GRN, PSAP
Prosaposin facilitates sortilin-independent lysosomal trafficking of progranulin.
Zhou X, Sun L, Bastos de Oliveira F, Qi X, Brown WJ, Smolka MB, Sun Y, Hu F.
J Cell Biol 210(6):991-1002. doi: 10.1083/jcb.201502029. 2015
7PSAP
Prosaposin: a protein with differential sorting and multiple functions.
Carvelli L, Libin Y, Morales CR.
Histol Histopathol 30(6):647-60. doi: 10.14670/HH-30.647. Epub 2014 Dec 18. Review. 2015
8CASP14, PRSS3, PSAP
Mesotrypsin and caspase-14 participate in prosaposin processing: potential relevance to epidermal permeability barrier formation.
Yamamoto-Tanaka M, Motoyama A, Miyai M, Matsunaga Y, Matsuda J, Tsuboi R, Hibino T.
J Biol Chem 289(29):20026-38. doi: 10.1074/jbc.M113.543421. Epub 2014 May 28. 2014
9GPR37, GPR37L1, PSAP
The protective role of prosaposin and its receptors in the nervous system.
Meyer RC, Giddens MM, Coleman BM, Hall RA.
Brain Res 1585:1-12. doi: 10.1016/j.brainres.2014.08.022. Epub 2014 Aug 15. Review. 2014
10PSAP, SAPC
A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers.
Siri L, Rossi A, Lanza F, Mazzotti R, Costa A, Stroppiano M, Gaiero A, Cohen A, Biancheri R, Filocamo M.
Neurogenetics 15(2):101-6. doi: 10.1007/s10048-014-0390-4. Epub 2014 Jan 31. 2014
11GPR37, GPR37L1, PSAP
GPR37 and GPR37L1 are receptors for the neuroprotective and glioprotective factors prosaptide and prosaposin.
Meyer RC, Giddens MM, Schaefer SA, Hall RA.
Proc Natl Acad Sci U S A 110(23):9529-34. doi: 10.1073/pnas.1219004110. Epub 2013 May 20. 2013
12PSAP
Prosaposin expression in the regenerated muscles of mdx and cardiotoxin-treated mice.
Li C, Gao HL, Shimokawa T, Nabeka H, Hamada F, Araki H, Cao YM, Kobayashi N, Matsuda S.
Histol Histopathol 28(7):875-92. doi: 10.14670/HH-28.875. Epub 2013 Jan 17. 2013
13PSAP, SAPC
Cathepsin-mediated regulation of autophagy in saposin C deficiency.
Tatti M, Motta M, Di Bartolomeo S, Cianfanelli V, Salvioli R.
Autophagy 9(2):241-3. doi: 10.4161/auto.22557. Epub 2012 Oct 29. 2013
14GBA, PSAP, SNCA
Saposin C protects glucocerebrosidase against α-synuclein inhibition.
Yap TL, Gruschus JM, Velayati A, Sidransky E, Lee JC.
Biochemistry 52(41):7161-3. doi: 10.1021/bi401191v. Epub 2013 Oct 1. 2013
15PSAP
Prosaposin, a regulator of estrogen receptor alpha, promotes breast cancer growth.
Wu Y, Sun L, Zou W, Xu J, Liu H, Wang W, Yun X, Gu J.
Cancer Sci 103(10):1820-5. doi: 10.1111/j.1349-7006.2012.02374.x. Epub 2012 Aug 10. 2012
16PSAP
Severe vestibular dysfunction and altered vestibular innervation in mice lacking prosaposin.
Akil O, Lustig LR.
Neurosci Res 72(4):296-305. doi: 10.1016/j.neures.2012.01.007. Epub 2012 Feb 4. 2012
17PSAP
Prosaposin sorting is mediated by oligomerization.
Yuan L, Morales CR.
Exp Cell Res 317(17):2456-67. doi: 10.1016/j.yexcr.2011.07.017. Epub 2011 Jul 29. 2011
18PSAP, SAPC
Specific saposin C deficiency: CNS impairment and acid beta-glucosidase effects in the mouse.
Sun Y, Ran H, Zamzow M, Kitatani K, Skelton MR, Williams MT, Vorhees CV, Witte DP, Hannun YA, Grabowski GA.
Hum Mol Genet 19(4):634-47. Epub 2009 Dec 16.PMID: 20015957 2010
19PSAP, SAPC
Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.
Vaccaro AM, Motta M, Tatti M, Scarpa S, Masuelli L, Bhat M, Vanier MT, Tylki-Szymanska A, Salvioli R.
Hum Mol Genet 19(15):2987-97. Epub 2010 May 19.PMID: 20484222 2010
20PSAP, UGGT1
The role of UDP-Glc:glycoprotein glucosyltransferase 1 in the maturation of an obligate substrate prosaposin.
Pearse BR, Tamura T, Sunryd JC, Grabowski GA, Kaufman RJ, Hebert DN.
J Cell Biol 189(5):829-41. doi: 10.1083/jcb.200912105. Epub 2010 May 24. 2010
21PSAP, SAPB, SAPD
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.
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.
Am J Med Genet A 149A(4):613-21. 2009
22ARSA, LDM, PSAP, SAPB
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
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.
Hum Mutat 29(11):E220-30. 2008
23PSAP
Ectopic expression of neurotrophic peptide derived from saposin C increases proliferation and upregulates androgen receptor expression and transcriptional activity in human prostate cancer cells.
Ding Y, Yuan HQ, Kong F, Hu XY, Ren K, Cai J, Wang XL, Young CY.
Asian J Androl 9(5):601-9. 2007
24PSAP, SAPC
Non-neuronopathic Gaucher disease due to saposin C deficiency.
Tylki-Szyma–ska A, Czartoryska B, Vanier MT, Poorthuis BJ, Groener JA, £ugowska A, Millat G, Vaccaro AM, Jurkiewicz E.
Clin Genet 72(6):538-42. Epub 2007 Oct 7. 2007
25PSAP, SAPA
A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.
Spiegel R, Bach G, Sury V, Mengistu G, Meidan B, Shalev S, Shneor Y, Mandel H, Zeigler M.
Mol Genet Metab 84(2):160-6. 2005
26PSAP
Amplification and overexpression of prosaposin in prostate cancer.
Koochekpour S, Zhuang YJ, Beroukhim R, Hsieh CL, Hofer MD, Zhau HE, Hiraiwa M, Pattan DY, Ware JL, Luftig RB, Sandhoff K, Sawyers CL, Pienta KJ, Rubin MA, Vessella RL, Sellers WR, Sartor O.
Genes Chromosomes Cancer 44(4):351-64. 2005
27PSAP
Mutation in saposin D domain of sphingolipid activator protein gene causes urinary system defects and cerebellar Purkinje cell degeneration with accumulation of hydroxy fatty acid-containing ceramide in mouse.
Matsuda J, Kido M, Tadano-Aritomi K, Ishizuka I, Tominaga K, Toida K, Takeda E, Suzuki K, Kuroda Y.
Hum Mol Genet 13(21):2709-23. Epub 2004 Sep 02. 2004
28PSAP
Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation.
Sun Y, Qi X, Grabowski GA.
J Biol Chem 278(34):31918-23. Epub 2003 Jun 17. 2003
29PSAP, SAPD
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
Hulkova H, Cervenkova M, Ledvinova J, Tochackova M, Hrebicek M, Poupetova H, Befekadu A, Berna L, Paton BC, Harzer K, Boor A, Smid F, Elleder M.
Hum Mol Genet 10(9):927-40. 2001
30PSAP
Isolation and characterization of the human prosaposin promoter.
Sun Y, et al.
Gene 218 : 37-47. 1998
31GBA, PSAP, GBA1, GBA2, GBA3
Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease.
Cormand B, Montfort M, Chabas A, Vilageliu L, Grinberg D.
Hum Genet 100(1):75-9. 1997
32SAPB, PSAP
Analysis of a splice-site mutation in the sap-precursor gene of a patient with metachromatic leukodystrophy.
Henseler M, et al.
Am J Hum Genet 58 : 65-74. 1996
33PSAP
Assignment of the human prosaposin gene (PSAP) to 10q22.1 by fluorescence in situ hybridization.
Bar-Am I, et al.
Cytogenet Cell Genet 72 : 316-318. 1996
34PSAP
Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene.
Schnabel D, et al.
J Biol Chem 267 : 3312-3315. 1992
35PSAP
Structure and evolution of the human prosaposin chromosomal gene.
Rorman EG, et al.
Genomics 13 : 312-318. 1992
36PSAP
Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.
Holtschmidt H, et al.
J Biol Chem 266 : 7556-7560. 1991
37PSAP
Mutations in different domains of the SAP gene result in two entirely different lysosomal disorders.
Rafi MA, et al.
Am J Hum Genet 49S : 416. 1991
38PSAP, SAPB, SAPC
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.
Rorman EG, Grabowski GA.
Genomics 5(3):486-92. 1989
39PSAP
Saposin A : second cerebrosidase activator protein.
Morimoto S, et al.
Proc Natl Acad Sci U S A 86 : 3389-3393. 1989
40SAPB, SAPC, PSAP
Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus.
O'Brien JS, et al.
Science 241 : 1098-1101. 1988