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Items: 39

1.

Development of a model system for neuronal dysfunction in Fabry disease.

Kaneski CR, Brady RO, Hanover JA, Schueler UH.

Mol Genet Metab. 2016 Sep;119(1-2):144-50. doi: 10.1016/j.ymgme.2016.07.010. Epub 2016 Jul 22.

2.

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.

Proc Natl Acad Sci U S A. 2010 Dec 14;107(50):21665-70. doi: 10.1073/pnas.1014376107. Epub 2010 Nov 22.

3.

Use of lissamine rhodamine ceramide trihexoside as a functional assay for alpha-galactosidase A in intact cells.

Kaneski CR, Schiffmann R, Brady RO, Murray GJ.

J Lipid Res. 2010 Sep;51(9):2808-17. doi: 10.1194/jlr.D007294. Epub 2010 Jun 6.

4.

Free sialic acid storage disease without sialuria.

Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R.

Ann Neurol. 2009 Jun;65(6):753-7. doi: 10.1002/ana.21624.

5.

Translational read-through of a nonsense mutation in ATP7A impacts treatment outcome in Menkes disease.

Kaler SG, Tang J, Donsante A, Kaneski CR.

Ann Neurol. 2009 Jan;65(1):108-13. doi: 10.1002/ana.21576.

6.

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).

Mochel F, Sedel F, Vanderver A, Engelke UF, Barritault J, Yang BZ, Kulkarni B, Adams DR, Clot F, Ding JH, Kaneski CR, Verheijen FW, Smits BW, Seguin F, Brice A, Vanier MT, Huizing M, Schiffmann R, Durr A, Wevers RA.

Brain. 2009 Mar;132(Pt 3):801-9. doi: 10.1093/brain/awn355. Epub 2009 Jan 19.

7.

Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells.

Shen JS, Meng XL, Moore DF, Quirk JM, Shayman JA, Schiffmann R, Kaneski CR.

Mol Genet Metab. 2008 Nov;95(3):163-8. doi: 10.1016/j.ymgme.2008.06.016. Epub 2008 Aug 15.

8.

Prediction of response of mutated alpha-galactosidase A to a pharmacological chaperone.

Shin SH, Kluepfel-Stahl S, Cooney AM, Kaneski CR, Quirk JM, Schiffmann R, Brady RO, Murray GJ.

Pharmacogenet Genomics. 2008 Sep;18(9):773-80. doi: 10.1097/FPC.0b013e32830500f4.

9.

Isolated ocular disease is associated with decreased mucolipin-1 channel conductance.

Goldin E, Caruso RC, Benko W, Kaneski CR, Stahl S, Schiffmann R.

Invest Ophthalmol Vis Sci. 2008 Jul;49(7):3134-42. doi: 10.1167/iovs.07-1649. Epub 2008 Mar 7.

10.

Cellular and tissue localization of globotriaosylceramide in Fabry disease.

Askari H, Kaneski CR, Semino-Mora C, Desai P, Ang A, Kleiner DE, Perlee LT, Quezado M, Spollen LE, Wustman BA, Schiffmann R.

Virchows Arch. 2007 Oct;451(4):823-34. Epub 2007 Aug 3.

PMID:
17674039
11.

Establishment and characterization of Fabry disease endothelial cells with an extended lifespan.

Shen JS, Meng XL, Schiffmann R, Brady RO, Kaneski CR.

Mol Genet Metab. 2007 Sep-Oct;92(1-2):137-44. Epub 2007 Jul 17.

12.

Screening for pharmacological chaperones in Fabry disease.

Shin SH, Murray GJ, Kluepfel-Stahl S, Cooney AM, Quirk JM, Schiffmann R, Brady RO, Kaneski CR.

Biochem Biophys Res Commun. 2007 Jul 20;359(1):168-73. Epub 2007 May 22.

13.

The cerebral vasculopathy of Fabry disease.

Moore DF, Kaneski CR, Askari H, Schiffmann R.

J Neurol Sci. 2007 Jun 15;257(1-2):258-63. Epub 2007 Mar 23. Review.

PMID:
17362993
14.

Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia.

Timmons M, Tsokos M, Asab MA, Seminara SB, Zirzow GC, Kaneski CR, Heiss JD, van der Knaap MS, Vanier MT, Schiffmann R, Wong K.

Neurology. 2006 Dec 12;67(11):2066-9.

15.

Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease.

Kaneski CR, Moore DF, Ries M, Zirzow GC, Schiffmann R.

Neurology. 2006 Dec 12;67(11):2045-7.

16.

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.

Biochem Biophys Res Commun. 2005 Nov 18;337(2):701-7. Epub 2005 Sep 26.

PMID:
16223608
17.

Heightened stress response in primary fibroblasts expressing mutant eIF2B genes from CACH/VWM leukodystrophy patients.

Kantor L, Harding HP, Ron D, Schiffmann R, Kaneski CR, Kimball SR, Elroy-Stein O.

Hum Genet. 2005 Oct;118(1):99-106. Epub 2005 Oct 28.

PMID:
16041584
18.

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.

Biochem J. 2005 Aug 15;390(Pt 1):95-103.

19.

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.

J Inherit Metab Dis. 2004;27(5):649-58.

PMID:
15669681
20.

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.

Hum Mutat. 2004 Dec;24(6):460-5.

PMID:
15523648
21.

The effect of genotype on the natural history of eIF2B-related leukodystrophies.

Fogli A, Schiffmann R, Bertini E, Ughetto S, Combes P, Eymard-Pierre E, Kaneski CR, Pineda M, Troncoso M, Uziel G, Surtees R, Pugin D, Chaunu MP, Rodriguez D, Boespflug-Tanguy O.

Neurology. 2004 May 11;62(9):1509-17.

PMID:
15136673
22.

Insertion of mutant proteolipid protein results in missorting of myelin proteins.

Vaurs-Barriere C, Wong K, Weibel TD, Abu-Asab M, Weiss MD, Kaneski CR, Mixon TH, Bonavita S, Creveaux I, Heiss JD, Tsokos M, Goldin E, Quarles RH, Boespflug-Tanguy O, Schiffmann R.

Ann Neurol. 2003 Dec;54(6):769-80. Erratum in: Ann Neurol. 2004 Jan;55(1):149-50.

23.

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.

Neurobiol Dis. 2003 Dec;14(3):595-601.

PMID:
14678774
24.

HIV-2 derived lentiviral vectors: gene transfer in Parkinson's and Fabry disease models in vitro.

D'Costa J, Harvey-White J, Qasba P, Limaye A, Kaneski CR, Davis-Warren A, Brady RO, Bankiewicz KS, Major EO, Arya SK.

J Med Virol. 2003 Oct;71(2):173-82.

PMID:
12938190
25.

Ovarian failure related to eukaryotic initiation factor 2B mutations.

Fogli A, Rodriguez D, Eymard-Pierre E, Bouhour F, Labauge P, Meaney BF, Zeesman S, Kaneski CR, Schiffmann R, Boespflug-Tanguy O.

Am J Hum Genet. 2003 Jun;72(6):1544-50. Epub 2003 Apr 21.

26.

The neurogenetics of mucolipidosis type IV.

Altarescu G, Sun M, Moore DF, Smith JA, Wiggs EA, Solomon BI, Patronas NJ, Frei KP, Gupta S, Kaneski CR, Quarrell OW, Slaugenhaupt SA, Goldin E, Schiffmann R.

Neurology. 2002 Aug 13;59(3):306-13.

PMID:
12182165
27.
28.

Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS Jr, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA.

Hum Mol Genet. 2000 Oct 12;9(17):2471-8.

PMID:
11030752
29.

Mucolipidosis IV consists of one complementation group.

Goldin E, Cooney A, Kaneski CR, Brady RO, Schiffmann R.

Proc Natl Acad Sci U S A. 1999 Jul 20;96(15):8562-6.

30.

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis.

Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, Ioannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette-Mackie EJ, Dwyer NK, Neufeld EB, Chang TY, Liscum L, Strauss JF 3rd, Ohno K, Zeigler M, Carmi R, Sokol J, Markie D, O'Neill RR, van Diggelen OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA.

Science. 1997 Jul 11;277(5323):228-31.

31.

Leukodystrophy in patients with ovarian dysgenesis.

Schiffmann R, Tedeschi G, Kinkel RP, Trapp BD, Frank JA, Kaneski CR, Brady RO, Barton NW, Nelson L, Yanovski JA.

Ann Neurol. 1997 May;41(5):654-61.

PMID:
9153528
32.

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

Higgins JJ, Kaneski CR, Bernardini I, Brady RO, Barton NW.

Neurology. 1994 Sep;44(9):1728-32.

PMID:
7936305
33.

Hydrolysis of a novel lysosomotropic enzyme substrate for beta-galactosidase within intact cells.

Kaneski CR, French SA, Brescia MR, Harbour MJ, Miller SP.

J Lipid Res. 1994 Aug;35(8):1441-51.

34.

Childhood ataxia with diffuse central nervous system hypomyelination.

Schiffmann R, Moller JR, Trapp BD, Shih HH, Farrer RG, Katz DA, Alger JR, Parker CC, Hauer PE, Kaneski CR, et al.

Ann Neurol. 1994 Mar;35(3):331-40.

PMID:
8122885
35.

Mucolipidosis IV fibroblasts synthesize normal amounts of hyaluronic acid.

Goldin E, Imai Y, Kaneski CR, Pentchev PG, Brady RO, Hascall VC.

J Inherit Metab Dis. 1994;17(5):545-53.

PMID:
7837760
36.

Clinical, pathologic, and biochemical features of a cholesterol lipidosis accompanied by hyperlipidemia and xanthomas.

Filling-Katz MR, Miller SP, Merrick HF, Travis WD, Gregg RE, Tsokos M, Comly M, Kaneski CR, Mackie S, Lebovics RS, et al.

Neurology. 1992 Sep;42(9):1768-74.

PMID:
1513468
37.

Cell line GM-4390 deficient in lysosomal alpha-galactosidase activity.

Kaneski CR, Oliver KL, Quirk JM.

In Vitro Cell Dev Biol. 1991 Apr;27A(4):277-8. No abstract available.

PMID:
1649815
39.

Type C Niemann-Pick disease: documentation of abnormal LDL processing in lymphocytes.

Argoff CE, Kaneski CR, Blanchette-Mackie EJ, Comly M, Dwyer NK, Brown A, Brady RO, Pentchev PG.

Biochem Biophys Res Commun. 1990 Aug 31;171(1):38-45.

PMID:
2393397

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