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Results: 1 to 20 of 288

Similar articles for PubMed (Select 17353235)

1.

Combined saposin C and D deficiencies in mice lead to a neuronopathic phenotype, glucosylceramide and alpha-hydroxy ceramide accumulation, and altered prosaposin trafficking.

Sun Y, Witte DP, Zamzow M, Ran H, Quinn B, Matsuda J, Grabowski GA.

Hum Mol Genet. 2007 Apr 15;16(8):957-71. Epub 2007 Mar 12.

2.
3.

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. 2004 Nov 1;13(21):2709-23. Epub 2004 Sep 2.

4.

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. 2010 Feb 15;19(4):634-47. doi: 10.1093/hmg/ddp531. Epub 2009 Dec 16.

5.

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. 2010 Aug 1;19(15):2987-97. doi: 10.1093/hmg/ddq204. Epub 2010 May 19.

6.

A mutation in the saposin C domain of the sphingolipid activator protein (Prosaposin) gene causes neurodegenerative disease in mice.

Yoneshige A, Suzuki K, Suzuki K, Matsuda J.

J Neurosci Res. 2010 Aug 1;88(10):2118-34. doi: 10.1002/jnr.22371.

PMID:
20175216
7.

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits.

Sun Y, Liou B, Ran H, Skelton MR, Williams MT, Vorhees CV, Kitatani K, Hannun YA, Witte DP, Xu YH, Grabowski GA.

Hum Mol Genet. 2010 Mar 15;19(6):1088-97. doi: 10.1093/hmg/ddp580. Epub 2010 Jan 4.

8.

Prosaposin: threshold rescue and analysis of the "neuritogenic" region in transgenic mice.

Sun Y, Qi X, Witte DP, Ponce E, Kondoh K, Quinn B, Grabowski GA.

Mol Genet Metab. 2002 Aug;76(4):271-86.

PMID:
12208132
9.

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice.

Sun Y, Witte DP, Ran H, Zamzow M, Barnes S, Cheng H, Han X, Williams MT, Skelton MR, Vorhees CV, Grabowski GA.

Hum Mol Genet. 2008 Aug 1;17(15):2345-56. doi: 10.1093/hmg/ddn135. Epub 2008 May 14.

10.

Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice.

Sun Y, Zamzow M, Ran H, Zhang W, Quinn B, Barnes S, Witte DP, Setchell KD, Williams MT, Vorhees CV, Grabowski GA.

Hum Mol Genet. 2013 Jun 15;22(12):2435-50. doi: 10.1093/hmg/ddt096. Epub 2013 Feb 27.

11.

Non-neuronopathic Gaucher disease due to saposin C deficiency.

Tylki-Szymańska A, Czartoryska B, Vanier MT, Poorthuis BJ, Groener JA, Ługowska A, Millat G, Vaccaro AM, Jurkiewicz E.

Clin Genet. 2007 Dec;72(6):538-42. Epub 2007 Oct 7.

PMID:
17919309
12.

Ex vivo localization of the mouse saposin C activation region for acid beta-glucosidase.

Qi X, Kondoh K, Yin H, Wang M, Ponce E, Sun Y, Grabowski GA.

Mol Genet Metab. 2002 Jul;76(3):189-200.

PMID:
12126932
14.

Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice.

Sun Y, Jia L, Williams MT, Zamzow M, Ran H, Quinn B, Aronow BJ, Vorhees CV, Witte DP, Grabowski GA.

BMC Neurosci. 2008 Aug 1;9:76. doi: 10.1186/1471-2202-9-76.

15.

Saposin C: neuronal effect and CNS delivery by liposomes.

Chu Z, Sun Y, Kuan CY, Grabowski GA, Qi X.

Ann N Y Acad Sci. 2005 Aug;1053:237-46.

PMID:
16179529
16.
17.

Proteolytic processing patterns of prosaposin in insect and mammalian cells.

Leonova T, Qi X, Bencosme A, Ponce E, Sun Y, Grabowski GA.

J Biol Chem. 1996 Jul 19;271(29):17312-20.

18.

Saposin C is required for normal resistance of acid beta-glucosidase to proteolytic degradation.

Sun Y, Qi X, Grabowski GA.

J Biol Chem. 2003 Aug 22;278(34):31918-23. Epub 2003 Jun 17.

20.

Model SV40-transformed fibroblast lines for metabolic studies of human prosaposin and acid ceramidase deficiencies.

Chatelut M, Harzer K, Christomanou H, Feunteun J, Pieraggi MT, Paton BC, Kishimoto Y, O'Brien JS, Basile JP, Thiers JC, Salvayre R, Levade T.

Clin Chim Acta. 1997 Jun 27;262(1-2):61-76.

PMID:
9204210
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