Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 109

1.

Loss of the Batten disease gene CLN3 prevents exit from the TGN of the mannose 6-phosphate receptor.

Metcalf DJ, Calvi AA, Seaman MNj, Mitchison HM, Cutler DF.

Traffic. 2008 Nov;9(11):1905-14. doi: 10.1111/j.1600-0854.2008.00807.x. Epub 2008 Aug 4.

2.

S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p.

Codlin S, Mole SE.

J Cell Sci. 2009 Apr 15;122(Pt 8):1163-73. doi: 10.1242/jcs.038323. Epub 2009 Mar 19.

3.

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
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.

Role of the Lysosomal Membrane Protein, CLN3, in the Regulation of Cathepsin D Activity.

Cárcel-Trullols J, Kovács AD, Pearce DA.

J Cell Biochem. 2017 Nov;118(11):3883-3890. doi: 10.1002/jcb.26039. Epub 2017 May 23.

PMID:
28390177
6.

Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway.

Lojewski X, Staropoli JF, Biswas-Legrand S, Simas AM, Haliw L, Selig MK, Coppel SH, Goss KA, Petcherski A, Chandrachud U, Sheridan SD, Lucente D, Sims KB, Gusella JF, Sondhi D, Crystal RG, Reinhardt P, Sterneckert J, Schöler H, Haggarty SJ, Storch A, Hermann A, Cotman SL.

Hum Mol Genet. 2014 Apr 15;23(8):2005-22. doi: 10.1093/hmg/ddt596. Epub 2013 Nov 23.

7.

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
8.

Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene.

Sondhi D, Scott EC, Chen A, Hackett NR, Wong AM, Kubiak A, Nelvagal HR, Pearse Y, Cotman SL, Cooper JD, Crystal RG.

Hum Gene Ther. 2014 Mar;25(3):223-39. doi: 10.1089/hum.2012.253. Epub 2014 Mar 4.

9.

Biochemistry of neuronal ceroid lipofuscinoses.

Junaid MA, Pullarkat RK.

Adv Genet. 2001;45:93-106. Review.

PMID:
11332778
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.

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.

12.

Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments.

Uusi-Rauva K, Kyttälä A, van der Kant R, Vesa J, Tanhuanpää K, Neefjes J, Olkkonen VM, Jalanko A.

Cell Mol Life Sci. 2012 Jun;69(12):2075-89. doi: 10.1007/s00018-011-0913-1. Epub 2012 Jan 20.

PMID:
22261744
13.

Revisiting the neuronal localization and trafficking of CLN3 in juvenile neuronal ceroid lipofuscinosis.

Oetjen S, Kuhl D, Hermey G.

J Neurochem. 2016 Nov;139(3):456-470. doi: 10.1111/jnc.13744. Epub 2016 Sep 9.

14.

A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes.

Persaud-Sawin DA, McNamara JO 2nd, Rylova S, Vandongen A, Boustany RM.

Pediatr Res. 2004 Sep;56(3):449-63. Epub 2004 Jul 7.

PMID:
15240864
15.

Loss of Cln3 function in the social amoeba Dictyostelium discoideum causes pleiotropic effects that are rescued by human CLN3.

Huber RJ, Myre MA, Cotman SL.

PLoS One. 2014 Oct 17;9(10):e110544. doi: 10.1371/journal.pone.0110544. eCollection 2014.

16.

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
17.

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
18.

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
19.

Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function.

Chandrachud U, Walker MW, Simas AM, Heetveld S, Petcherski A, Klein M, Oh H, Wolf P, Zhao WN, Norton S, Haggarty SJ, Lloyd-Evans E, Cotman SL.

J Biol Chem. 2015 Jun 5;290(23):14361-80. doi: 10.1074/jbc.M114.621706. Epub 2015 Apr 15.

20.

A novel c.1135_1138delCTGT mutation in CLN3 leads to juvenile neuronal ceroid lipofuscinosis.

Drack AV, Miller JN, Pearce DA.

J Child Neurol. 2013 Sep;28(9):1112-6. doi: 10.1177/0883073813494812. Epub 2013 Jul 22.

PMID:
23877479

Supplemental Content

Support Center