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Results: 1 to 20 of 213

Similar articles for PubMed (Select 10332042)

1.

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.

2.

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.

3.

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.

4.

Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models.

Chan CH, Mitchison HM, Pearce DA.

Hum Mol Genet. 2008 Nov 1;17(21):3332-9. doi: 10.1093/hmg/ddn228. Epub 2008 Aug 4.

5.

Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype.

de Voer G, van der Bent P, Rodrigues AJ, van Ommen GJ, Peters DJ, Taschner PE.

J Inherit Metab Dis. 2005;28(6):1065-80.

PMID:
16435200
6.

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.

7.

Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene.

Zhong N, Wisniewski KE, Kaczmarski AL, Ju W, Xu WM, Xu WW, Mclendon L, Liu B, Kaczmarski W, Sklower Brooks SS, Brown WT.

Hum Genet. 1998 Jan;102(1):57-62.

PMID:
9490299
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.

10.

Immunochemical localization of the Batten disease (CLN3) protein in retina.

Katz ML, Gao CL, Prabhakaram M, Shibuya H, Liu PC, Johnson GS.

Invest Ophthalmol Vis Sci. 1997 Oct;38(11):2375-86.

PMID:
9344361
11.

Spectrum of mutations in the Batten disease gene, CLN3.

Munroe PB, Mitchison HM, O'Rawe AM, Anderson JW, Boustany RM, Lerner TJ, Taschner PE, de Vos N, Breuning MH, Gardiner RM, Mole SE.

Am J Hum Genet. 1997 Aug;61(2):310-6.

12.

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
13.

CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells.

Golabek AA, Kida E, Walus M, Kaczmarski W, Michalewski M, Wisniewski KE.

Mol Genet Metab. 2000 Jul;70(3):203-13.

PMID:
10924275
14.

Caenorhabditis elegans homologues of the CLN3 gene, mutated in juvenile neuronal ceroid lipofuscinosis.

De Voer G, Jansen G, van Ommen GJ, Peters DJ, Taschner PE.

Eur J Paediatr Neurol. 2001;5 Suppl A:115-20.

PMID:
11588981
15.

Intracellular trafficking of the JNCL protein CLN3.

Haskell RE, Derksen TA, Davidson BL.

Mol Genet Metab. 1999 Apr;66(4):253-60.

PMID:
10191111
16.

CLN3 disease process: missense point mutations and protein depletion in vitro.

Golabek AA, Kida E, Walus M, Kaczmarski W, Wujek P, Wisniewski KE.

Eur J Paediatr Neurol. 2001;5 Suppl A:81-8.

PMID:
11589014
17.
18.

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
19.

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
20.

Tissue expression and subcellular localization of CLN3, the Batten disease protein.

Margraf LR, Boriack RL, Routheut AA, Cuppen I, Alhilali L, Bennett CJ, Bennett MJ.

Mol Genet Metab. 1999 Apr;66(4):283-9.

PMID:
10191116
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