Format
Sort by
Items per page

Send to

Choose Destination

Links from OMIM

Items: 1 to 20 of 33

1.

Interaction between Sdo1p and Btn1p in the Saccharomyces cerevisiae model for Batten disease.

Vitiello SP, Benedict JW, Padilla-Lopez S, Pearce DA.

Hum Mol Genet. 2010 Mar 1;19(5):931-42. doi: 10.1093/hmg/ddp560. Epub 2009 Dec 16.

2.

Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X).

Sarpong A, Schottmann G, Rüther K, Stoltenburg G, Kohlschütter A, Hübner C, Schuelke M.

Clin Genet. 2009 Jul;76(1):38-45. doi: 10.1111/j.1399-0004.2009.01179.x. Epub 2009 May 21.

PMID:
19489875
3.

Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways.

Tuxworth RI, Vivancos V, O'Hare MB, Tear G.

Hum Mol Genet. 2009 Feb 15;18(4):667-78. doi: 10.1093/hmg/ddn396. Epub 2008 Nov 21.

4.

A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.

Kitzmüller C, Haines RL, Codlin S, Cutler DF, Mole SE.

Hum Mol Genet. 2008 Jan 15;17(2):303-12. Epub 2007 Oct 18.

PMID:
17947292
5.

A novel role of the Batten disease gene CLN3: association with BMP synthesis.

Hobert JA, Dawson G.

Biochem Biophys Res Commun. 2007 Jun 22;358(1):111-6. Epub 2007 Apr 19.

6.

Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin.

Chang JW, Choi H, Kim HJ, Jo DG, Jeon YJ, Noh JY, Park WJ, Jung YK.

Hum Mol Genet. 2007 Feb 1;16(3):317-26. Epub 2006 Dec 22.

PMID:
17189291
7.

CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase.

Narayan SB, Rakheja D, Tan L, Pastor JV, Bennett MJ.

Ann Neurol. 2006 Nov;60(5):570-7.

PMID:
17036287
8.

Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis.

Cao Y, Espinola JA, Fossale E, Massey AC, Cuervo AM, MacDonald ME, Cotman SL.

J Biol Chem. 2006 Jul 21;281(29):20483-93. Epub 2006 May 19.

9.

Defective lysosomal arginine transport in juvenile Batten disease.

Ramirez-Montealegre D, Pearce DA.

Hum Mol Genet. 2005 Dec 1;14(23):3759-73. Epub 2005 Oct 26.

PMID:
16251196
10.

Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway.

Luiro K, Yliannala K, Ahtiainen L, Maunu H, Järvelä I, Kyttälä A, Jalanko A.

Hum Mol Genet. 2004 Dec 1;13(23):3017-27. Epub 2004 Oct 7.

PMID:
15471887
11.

CLN3P, the Batten disease protein, localizes to membrane lipid rafts (detergent-resistant membranes).

Rakheja D, Narayan SB, Pastor JV, Bennett MJ.

Biochem Biophys Res Commun. 2004 May 14;317(4):988-91.

PMID:
15094366
12.
13.

Membrane topology of CLN3, the protein underlying Batten disease.

Mao Q, Foster BJ, Xia H, Davidson BL.

FEBS Lett. 2003 Apr 24;541(1-3):40-6.

14.

Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth.

Cotman SL, Vrbanac V, Lebel LA, Lee RL, Johnson KA, Donahue LR, Teed AM, Antonellis K, Bronson RT, Lerner TJ, MacDonald ME.

Hum Mol Genet. 2002 Oct 15;11(22):2709-21.

PMID:
12374761
15.

Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis.

Persaud-Sawin DA, VanDongen A, Boustany RM.

Hum Mol Genet. 2002 Sep 1;11(18):2129-42.

PMID:
12189165
16.

The CLN3 gene is a novel molecular target for cancer drug discovery.

Rylova SN, Amalfitano A, Persaud-Sawin DA, Guo WX, Chang J, Jansen PJ, Proia AD, Boustany RM.

Cancer Res. 2002 Feb 1;62(3):801-8.

17.

CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease.

Luiro K, Kopra O, Lehtovirta M, Jalanko A.

Hum Mol Genet. 2001 Sep 15;10(19):2123-31.

PMID:
11590129
18.

Batten disease: evaluation of CLN3 mutations on protein localization and function.

Haskell RE, Carr CJ, Pearce DA, Bennett MJ, Davidson BL.

Hum Mol Genet. 2000 Mar 22;9(5):735-44.

PMID:
10749980
19.

Molecular basis of the neuronal ceroid lipofuscinoses: mutations in CLN1, CLN2, CLN3, and CLN5.

Mole SE, Mitchison HM, Munroe PB.

Hum Mutat. 1999;14(3):199-215. Review.

PMID:
10477428
20.

Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)

Järvelä I, Lehtovirta M, Tikkanen R, Kyttälä A, Jalanko A.

Hum Mol Genet. 1999 Jun;8(6):1091-8. Erratum in: Hum Mol Genet 1999 Aug;8(8):1585.

PMID:
10332042

Supplemental Content

Support Center