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Items: 1 to 20 of 119

1.

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.

2.

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
3.

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.

4.

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
5.

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.

6.

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
7.

Osmoregulation of ceroid neuronal lipofuscinosis type 3 in the renal medulla.

Stein CS, Yancey PH, Martins I, Sigmund RD, Stokes JB, Davidson BL.

Am J Physiol Cell Physiol. 2010 Jun;298(6):C1388-400. doi: 10.1152/ajpcell.00272.2009. Epub 2010 Mar 10.

8.

Altered sensitivity of cerebellar granule cells to glutamate receptor overactivation in the Cln3(Δex7/8)-knock-in mouse model of juvenile neuronal ceroid lipofuscinosis.

Finn R, Kovács AD, Pearce DA.

Neurochem Int. 2011 May;58(6):648-55. doi: 10.1016/j.neuint.2011.02.003. Epub 2011 Feb 17.

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.

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.

Staropoli JF, Haliw L, Biswas S, Garrett L, Hölter SM, Becker L, Skosyrski S, Da Silva-Buttkus P, Calzada-Wack J, Neff F, Rathkolb B, Rozman J, Schrewe A, Adler T, Puk O, Sun M, Favor J, Racz I, Bekeredjian R, Busch DH, Graw J, Klingenspor M, Klopstock T, Wolf E, Wurst W, Zimmer A, Lopez E, Harati H, Hill E, Krause DS, Guide J, Dragileva E, Gale E, Wheeler VC, Boustany RM, Brown DE, Breton S, Ruether K, Gailus-Durner V, Fuchs H, de Angelis MH, Cotman SL.

PLoS One. 2012;7(6):e38310. doi: 10.1371/journal.pone.0038310. Epub 2012 Jun 6.

11.

Microglia in juvenile neuronal ceroid lipofuscinosis are primed toward a pro-inflammatory phenotype.

Xiong J, Kielian T.

J Neurochem. 2013 Oct;127(2):245-58. doi: 10.1111/jnc.12385. Epub 2013 Aug 22.

12.

Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update.

Rakheja D, Narayan SB, Bennett MJ.

Curr Mol Med. 2007 Sep;7(6):603-8. Review.

PMID:
17896996
13.

Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype.

Kwon JM, Rothberg PG, Leman AR, Weimer JM, Mink JW, Pearce DA.

Neurosci Lett. 2005 Oct 21;387(2):111-4.

PMID:
16087292
14.

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.

15.

CLN3p impacts galactosylceramide transport, raft morphology, and lipid content.

Rusyn E, Mousallem T, Persaud-Sawin DA, Miller S, Boustany RM.

Pediatr Res. 2008 Jun;63(6):625-31. doi: 10.1203/PDR.0b013e31816fdc17.

PMID:
18317235
16.

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
17.

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.

18.

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
19.

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
20.

A novel interaction of CLN3 with nonmuscle myosin-IIB and defects in cell motility of Cln3(-/-) cells.

Getty AL, Benedict JW, Pearce DA.

Exp Cell Res. 2011 Jan 1;317(1):51-69. doi: 10.1016/j.yexcr.2010.09.007. Epub 2010 Sep 17.

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