Kaneski CR - Search Results

1

Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase.

Germain DP, Kaneski CR, Brady RO. Germain DP, et al. Among authors: kaneski cr. Mutat Res. 2001 Nov 1;483(1-2):89-94. doi: 10.1016/s0027-5107(01)00232-9. Mutat Res. 2001. PMID: 11600137

2

Five novel mutations in fourteen patients with Fabry Disease.

Rosenberg KM, Schiffmann R, Kaneski C, Brady RO, Sorensen SA, Hasholt L. Rosenberg KM, et al. Hum Mutat. 2000 Feb;15(2):207-8. doi: 10.1002/(SICI)1098-1004(200002)15:2<207::AID-HUMU16>3.0.CO;2-C. Hum Mutat. 2000. PMID: 10649504

3

Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.

Goldin E, Stahl S, Cooney AM, Kaneski CR, Gupta S, Brady RO, Ellis JR, Schiffmann R. Goldin E, et al. Among authors: kaneski cr. Hum Mutat. 2004 Dec;24(6):460-5. doi: 10.1002/humu.20094. Hum Mutat. 2004. PMID: 15523648

4

Uptake of mannose-terminal glucocerebrosidase in cultured human cholinergic and dopaminergic neuron cell lines.

Schueler U, Kaneski C, Murray G, Sandhoff K, Brady RO. Schueler U, et al. Neurochem Res. 2002 Apr;27(4):325-30. doi: 10.1023/a:1014915430398. Neurochem Res. 2002. PMID: 11958535

5

Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease.

Schueler UH, Kolter T, Kaneski CR, Zirzow GC, Sandhoff K, Brady RO. Schueler UH, et al. Among authors: kaneski cr. J Inherit Metab Dis. 2004;27(5):649-58. doi: 10.1023/b:boli.0000042959.44318.7c. J Inherit Metab Dis. 2004. PMID: 15669681

6

Decreased glucocerebrosidase activity in Gaucher disease parallels quantitative enzyme loss due to abnormal interaction with TCP1 and c-Cbl.

Lu J, Chiang J, Iyer RR, Thompson E, Kaneski CR, Xu DS, Yang C, Chen M, Hodes RJ, Lonser RR, Brady RO, Zhuang Z. Lu J, et al. Among authors: kaneski cr. Proc Natl Acad Sci U S A. 2010 Dec 14;107(50):21665-70. doi: 10.1073/pnas.1014376107. Epub 2010 Nov 22. Proc Natl Acad Sci U S A. 2010. PMID: 21098288 Free PMC article.

7

Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3.

Schueler UH, Kolter T, Kaneski CR, Blusztajn JK, Herkenham M, Sandhoff K, Brady RO. Schueler UH, et al. Among authors: kaneski cr. Neurobiol Dis. 2003 Dec;14(3):595-601. doi: 10.1016/j.nbd.2003.08.016. Neurobiol Dis. 2003. PMID: 14678774

8

The N370S (Asn370-->Ser) mutation affects the capacity of glucosylceramidase to interact with anionic phospholipid-containing membranes and saposin C.

Salvioli R, Tatti M, Scarpa S, Moavero SM, Ciaffoni F, Felicetti F, Kaneski CR, Brady RO, Vaccaro AM. Salvioli R, et al. Among authors: kaneski cr. Biochem J. 2005 Aug 15;390(Pt 1):95-103. doi: 10.1042/BJ20050325. Biochem J. 2005. PMID: 15826241 Free PMC article.

9

Pyridoxine-responsive hyper-beta-alaninemia associated with Cohen's syndrome.

Higgins JJ, Kaneski CR, Bernardini I, Brady RO, Barton NW. Higgins JJ, et al. Among authors: kaneski cr. Neurology. 1994 Sep;44(9):1728-32. doi: 10.1212/wnl.44.9.1728. Neurology. 1994. PMID: 7936305

10

Improved intracellular delivery of glucocerebrosidase mediated by the HIV-1 TAT protein transduction domain.

Lee KO, Luu N, Kaneski CR, Schiffmann R, Brady RO, Murray GJ. Lee KO, et al. Among authors: kaneski cr. Biochem Biophys Res Commun. 2005 Nov 18;337(2):701-7. doi: 10.1016/j.bbrc.2005.05.207. Epub 2005 Sep 26. Biochem Biophys Res Commun. 2005. PMID: 16223608

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

53 results

Search Page

Filters