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Items: 1 to 20 of 103

1.

Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease.

Lebrun AH, Moll-Khosrawi P, Pohl S, Makrypidi G, Storch S, Kilian D, Streichert T, Otto B, Mole SE, Ullrich K, Cotman S, Kohlschütter A, Braulke T, Schulz A.

Mol Med. 2011;17(11-12):1253-61. doi: 10.2119/molmed.2010.00241. Epub 2011 Aug 18.

2.

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.

3.

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
4.

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.

5.

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
6.

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.

7.

Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells.

Cao Y, Staropoli JF, Biswas S, Espinola JA, MacDonald ME, Lee JM, Cotman SL.

PLoS One. 2011 Feb 17;6(2):e17118. doi: 10.1371/journal.pone.0017118.

8.

A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course.

Aberg L, Lauronen L, Hämäläinen J, Mole SE, Autti T.

Pediatr Neurol. 2009 Feb;40(2):134-7. doi: 10.1016/j.pediatrneurol.2008.10.012.

PMID:
19135632
9.

Neurodevelopmental delay in the Cln3Deltaex7/8 mouse model for Batten disease.

Osório NS, Sampaio-Marques B, Chan CH, Oliveira P, Pearce DA, Sousa N, Rodrigues F.

Genes Brain Behav. 2009 Apr;8(3):337-45. doi: 10.1111/j.1601-183X.2009.00478.x. Epub 2009 Feb 19.

10.

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
11.

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.

12.

Retinal function in aging homozygous Cln3 (Δex7/8) knock-in mice.

Volz C, Mirza M, Langmann T, Jägle H.

Adv Exp Med Biol. 2014;801:495-501. doi: 10.1007/978-1-4614-3209-8_63.

PMID:
24664736
13.

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.

14.

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
15.

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.

16.

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
17.

Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence.

Mantel I, Brantley MA Jr, Bellmann C, Robson AG, Holder GE, Taylor A, Anderson G, Moore AT.

Klin Monbl Augenheilkd. 2004 May;221(5):427-30.

PMID:
15162299
18.

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.

19.

Developmental impairments of select neurotransmitter systems in brains of Cln3(Deltaex7/8) knock-in mice, an animal model of juvenile neuronal ceroid lipofuscinosis.

Herrmann P, Druckrey-Fiskaaen C, Kouznetsova E, Heinitz K, Bigl M, Cotman SL, Schliebs R.

J Neurosci Res. 2008 Jun;86(8):1857-70. doi: 10.1002/jnr.21630.

PMID:
18265413
20.

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

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