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Items: 1 to 20 of 313

1.

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
2.

Absence of Btn1p in the yeast model for juvenile Batten disease may cause arginine to become toxic to yeast cells.

Vitiello SP, Wolfe DM, Pearce DA.

Hum Mol Genet. 2007 May 1;16(9):1007-16. Epub 2007 Mar 6.

PMID:
17341489
3.

Altered arginine metabolism in the central nervous system (CNS) of the Cln3-/- mouse model of juvenile Batten disease.

Chan CH, Ramirez-Montealegre D, Pearce DA.

Neuropathol Appl Neurobiol. 2009 Apr;35(2):189-207. doi: 10.1111/j.1365-2990.2008.00984.x.

PMID:
19284480
4.

Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease.

Järvelä I, Sainio M, Rantamäki T, Olkkonen VM, Carpén O, Peltonen L, Jalanko A.

Hum Mol Genet. 1998 Jan;7(1):85-90.

PMID:
9384607
5.
6.

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
7.

Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue.

Pohl S, Mitchison HM, Kohlschütter A, van Diggelen O, Braulke T, Storch S.

J Neurochem. 2007 Dec;103(6):2177-88. Epub 2007 Sep 11.

9.
10.

Altered gene expression in the eye of a mouse model for batten disease.

Chattopadhyay S, Kingsley E, Serour A, Curran TM, Brooks AI, Pearce DA.

Invest Ophthalmol Vis Sci. 2004 Sep;45(9):2893-905.

PMID:
15326100
11.

btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis.

Gachet Y, Codlin S, Hyams JS, Mole SE.

J Cell Sci. 2005 Dec 1;118(Pt 23):5525-36. Epub 2005 Nov 15.

12.

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
13.

Novel interactions of CLN3 protein link Batten disease to dysregulation of fodrin-Na+, K+ ATPase complex.

Uusi-Rauva K, Luiro K, Tanhuanpää K, Kopra O, Martín-Vasallo P, Kyttälä A, Jalanko A.

Exp Cell Res. 2008 Sep 10;314(15):2895-905. doi: 10.1016/j.yexcr.2008.06.016. Epub 2008 Jun 28.

PMID:
18621045
14.

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
15.

Action of BTN1, the yeast orthologue of the gene mutated in Batten disease.

Pearce DA, Ferea T, Nosel SA, Das B, Sherman F.

Nat Genet. 1999 May;22(1):55-8.

PMID:
10319861
16.

Investigation of Batten disease with the yeast Saccharomyces cerevisiae.

Pearce DA, Sherman F.

Mol Genet Metab. 1999 Apr;66(4):314-9.

PMID:
10191120
17.

CLN3, the protein associated with batten disease: structure, function and localization.

Phillips SN, Benedict JW, Weimer JM, Pearce DA.

J Neurosci Res. 2005 Mar 1;79(5):573-83. Review.

PMID:
15657902
18.

A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease.

Kim Y, Ramirez-Montealegre D, Pearce DA.

Proc Natl Acad Sci U S A. 2003 Dec 23;100(26):15458-62. Epub 2003 Dec 5.

19.

Retinal pathology and function in a Cln3 knockout mouse model of juvenile Neuronal Ceroid Lipofuscinosis (batten disease).

Seigel GM, Lotery A, Kummer A, Bernard DJ, Greene ND, Turmaine M, Derksen T, Nussbaum RL, Davidson B, Wagner J, Mitchison HM.

Mol Cell Neurosci. 2002 Apr;19(4):515-27.

PMID:
11988019
20.

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

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