Citations for
Role of the Lysosomal Membrane Protein, CLN3, in the Regulation of Cathepsin D Activity.
Cárcel-Trullols J, Kovács AD, Pearce DA.
J Cell Biochem 118(11):3883-3890. doi: 10.1002/jcb.26039. Epub 2017 May 23. 2017
2CLN3, MYH10
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 317(1):51-69. Epub 2010 Sep 17. 2011
The Batten disease gene CLN3 is required for the response to oxidative stress.
Tuxworth RI, Chen H, Vivancos V, Carvajal N, Huang X, Tear G.
Hum Mol Genet 20(10):2037-47. Epub 2011 Mar 3. 2011
FACT prevents the accumulation of free histones evicted from transcribed chromatin and a subsequent cell cycle delay in G1.
Morillo-Huesca M, Maya D, Muñoz-Centeno MC, Singh RK, Oreal V, Reddy GU, Liang D, Géli V, Gunjan A, Chávez S.
PLoS Genet 6(5):e1000964. 2010
Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways.
Tuxworth RI, Vivancos V, O'Hare MB, Tear G.
Hum Mol Genet 18(4):667-78. Epub 2008 Nov 21. 2009
A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis.
KitzmŸller C, Haines RL, Codlin S, Cutler DF, Mole SE.
Hum Mol Genet 17(2):303-12. Epub 2007 Oct 18. 2008
7CLN1, CLN10, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8
The function of CLN3P, the Batten disease protein.
Rakheja D, Narayan SB, Bennett MJ.
Mol Genet Metab 93(3):269-74. Review. No abstract available. Erratum in: Mol Genet Metab. 2008 Jun;94(2):270. 2008
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 17(21):3332-9. Epub 2008 Aug 4. 2008
JNCL patients show marked brain volume alterations on longitudinal MRI in adolescence.
Autti TH, Hämäläinen J, Mannerkoski M, Van Leemput KV, Aberg LE.
J Neurol 255(8):1226-30. Epub 2008 Jul 17. 2008
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 314(15):2895-905. Epub 2008 Jun 28. 2008
11CLN1, CLN2, CLN3, CLN5, CLN6, CLN8, PPT2
Neuronal ceroid lipofuscinosis: a common pathway?
Persaud-Sawin DA, Mousallem T, Wang C, Zucker A, Kominami E, Boustany RM.
Pediatr Res 61(2):146-52. 2007
Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin.
Chang JW, Choi H, Kim HJ, Jo DG, Jeon YJ, Noh JY, Park WJ, Jung YK.
Hum Mol Genet 16(3):317-26. Epub 2006 Dec 22. 2007
Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties.
Narayan SB, Rakheja D, Pastor JV, Rosenblatt K, Greene SR, Yang J, Wolf BA, Bennett MJ.
Mol Genet Metab 88(2):178-83. Epub 2006 Mar 3. 2006
Batten disease (JNCL) is linked to disturbances in mitochondrial, cytoskeletal, and synaptic compartments.
Luiro K, Kopra O, Blom T, Gentile M, Mitchison HM, Hovatta I, Tšrnquist K, Jalanko A.
J Neurosci Res 84(5):1124-38. 2006
CLN3P, the Batten's disease protein, is a novel palmitoyl-protein Delta-9 desaturase.
Narayan SB, Rakheja D, Tan L, Pastor JV, Bennett MJ.
Ann Neurol 60(5):570-7. 2006
Defective lysosomal arginine transport in juvenile Batten disease.
Ramirez-Montealegre D, Pearce DA.
Hum Mol Genet 14(23):3759-73. Epub 2005 Oct 26. 2005
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 387(2):111-4. 2005
Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway.
Luiro K, Yliannala K, Ahtiainen L, Maunu H, Jarvela I, Kyttala A, Jalanko A.
Hum Mol Genet 13(23):3017-27. Epub 2004 Oct 07. 2004
CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease.
Narayan SB, Pastor JV, Mitchison HM, Bennett MJ.
Brain 127(Pt 8):1748-54. Epub 2004 Jul 7. 2004
A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting.
Storch S, Pohl S, Braulke T.
J Biol Chem 279(51):53625-34. Epub 2004 Oct 5. 2004
Membrane topology of CLN3, the protein underlying Batten disease.
Mao Q, Foster BJ, Xia H, Davidson BL.
FEBS Lett 541(1-3):40-6. 2003
Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis.
Persaud-Sawin DA, VanDongen A, Boustany RM.
Hum Mol Genet 11(18):2129-42. 2002
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 10(19):2123-31. 2001
Batten disease: evaluation of CLN3 mutations on protein localization and function.
Haskell RE, Carr CJ, Pearce DA, Bennett MJ, Davidson BL.
Hum Mol Genet 9(5):735-44. 2000
Localization and processing of CLN3, the protein associated to Batten disease: where is it and what does it do?
Pearce DA.
J Neurosci Res 59(1):19-23. Review. 2000
26CLN1, CLN2, CLN3, TPP1
Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3.
Chattopadhyay S, Pearce DA.
Mol Genet Metab 71(1-2):207-11. 2000
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 70(3):203-13. 2000
The Batten disease gene product (CLN3p) is a Golgi integral membrane protein.
Kremmidiotis G, et al.
Hum Mol Genet 8 : 523-531. 1999
CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide.
Puranam KL, et al.
Mol Genet Metab 66(4):294-308. 1999
Tissue expression and subcellular localization of CLN3, the batten disease protein.
Margraf LR, et al.
Mol Genet Metab 66(4):283-9. 1999
Studies of membrane association of CLN3 protein.
Kaczmarski W, et al.
Mol Genet Metab 66(4):261-4. 1999
Intracellular trafficking of the JNCL protein CLN3.
Haskell RE, et al.
Mol Genet Metab 66(4):253-60. 1999
Clinical and molecular analysis of japanese patients with neuronal ceroid lipofuscinosis.
Oishi K, et al.
Mol Genet Metab 66(4):344-8. 1999
Defective intracellular transport of CLN3 is the molecular basis of batten disease.
Jarvela I, et al.
Hum Mol Genet 8(6):1091-8. 1999
Action of BTN1, the yeast orthologue of the gene mutated in Batten disease.
Pearce DA, et al.
Nat Genet 22(1):55-8. 1999
36CLN1, CLN2, CLN3, CLN5, PPT1, TPP1
Molecular basis of the neuronal ceroid lipofuscinoses: Mutations in CLN1, CLN2, CLN3, and CLN5.
Mole SE, et al.
Hum Mutat 14(3):199-215 1999
Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected]
Mitchison HM, Bernard DJ, Greene ND, Cooper JD, Junaid MA, Pullarkat RK, de Vos N, Breuning MH, Owens JW, Mobley WC, Gardiner RM, Lake BD, Taschner PE, Nussbaum RL.
Neurobiol Dis 6(5):321-34. 1999
Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J, Mason T,Crosby ML, Barnstead M, Cronin L, Deslattes Mays A, Cao Y, Xu RX, Kang HL,Mitchell S, Eichler EE, Harris PC, Venter JC, Adams MD.
Genomics 60(3):295-308. 1999
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease.
Jarvela I, Sainio M, Rantamaki T, Olkkonen VM, Carpen O, Peltonen L, Jalanko A.
Hum Mol Genet 7(1):85-90. 1998
Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipufuscinosis.
Wisniewski KE, Zhong N, Kaczmarski W, Kaczmarski A, Kida E, Brown WT, Schwarz KO, Lazzarini AM, Rubin AJ, Stenroos ES, Johnson WG, Wisniewski TM.
Ann Neurol 43(1):106-10. 1998
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 102(1):57-62. 1998
Evidence for phosphorylation of CLN3 protein associated with Batten disease.
Michalewski MP, et al.
Biochem Biophys Res Commun 253(2):458-62. 1998
Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3.
Mitchison HM, et al.
Genomics 40 : 346-350. 1997
Strategy for mutation detection in CLN3: characterisation of two Finnish mutations.
Munroe PB, O'Rawe AM, Mitchison HM, Jarvela IE, Santavuori P, Lerner TJ, Taschner PE, Gardiner RM, Mole SE.
Neuropediatrics 28(1):15-7. 1997
Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein.
Mitchison HM, Taschner PE, Kremmidiotis G, Callen DF, Doggett NA, Lerner TJ, Janes RB, Wallace BA, Munroe PB, O'Rawe AM, Gardiner RM, Mole SE.
Neuropediatrics 28(1):12-4. 1997
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 61(2):310-6. 1997
Clinical and magnetic resonance imaging findings in Batten Disease : analysis of the major mutation (1.02-kb deletion).
Jarvela I, Autti T, Lamminranta S, Aberg L, Raininko R, Santavuori P.
Ann Neurol 42(5):799-802. 1997
Prenatal diagnosis of Batten's disease.
Munroe PB, et al.
Lancet 347 : 1014-1015. 1996
A model for Batten disease protein CLN3 : functional implications from homology and mutations.
Janes RW, et al.
FEBS Lett 399 : 75-77. 1996
Isolation of a novel gene underlying Batten disease, CLN3.
The International Batten Disease Consortium : Lerner TJ, et al.
Cell 82 : 949-957. 1995
YAC and cosmid contigs spanning the Batten disease (CLN3) region at 16p12.1-p11.2.
JŠrvelŠ IE, et al.
Genomics 29 : 478-489. 1995
Batten disease gene, CLN3 : linkage disequilibrium mapping in the Finnish population, and analysis of European haplotypes.
Mitchison HM, et al.
Am J Hum Genet 56 : 654-662. 1995
Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease).
Taschner PEM, et al.
Am J Hum Genet 56 : 663-668. 1995
Morphological alterations in neocortical and cerebellar GABAergic neurons in a canine model of juvenile Batten disease.
March PA, Wurzelmann S, Walkley SU.
Am J Med Genet 57(2):204-12. 1995
Linkage disequilibrium between the juvenile neuronal ceroid lipofuscinosis gene and marker loci on chromosome 16p12.1.
Lerner TJ, et al.
Am J Hum Genet 54 : 88-94. 1994
A variant form of late infantile neuronal ceroid lipofuscinosis (CLN5) is not an allelic form of batten (Spielmeyer-Vogt-Sjšgren, CLN3) disease : exclusion of linkage to the CLN3 region of chromosome 16.
Williams R, et al.
Genomics 20 : 289-290. 1994
Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association.
Mitchison HM, et al.
Genomics 22 : 465-468. 1994
Toward the identification of the gene for Batten disease (CLN3) in 16p12 by physical mapping and analysis of candidate genes. (abstr)
Mole SE, et al.
Am J Hum Genet 55 : A265. 1994
Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscocinosis on chromosome 16.
Yan W, et al.
Am J Hum Genet 52 : 89-95. 1993
Fine genetic mapping of the Batten disease locus (CLN3) by haplotype analysis and demonstration of allelic association with chromosome 16p microsatellite loci.
Mitchison HM, et al.
Genomics 16 : 455-460. 1993
61CLN1, CLN3
Genetic heterogeneity in neuronal ceroid lipofuscinosis (NCL) : evidence that the late-infantile subtype (Jansky-Bielschowsky disease; CLN2) is not an allelic form of the juvenile or infantile subtypes.
Williams R, et al.
Am J Hum Genet 53 : 931-935. 1993
Mapping the gene for juvenile onset neuronal ceroid lipofuscinosis to chromosome 16 by linkage analysis.
Gardiner RM.
Am J Med Genet 42 : 539-541. 1992
Linkage analysis in juvenile neuronal ceroid lipofuscinosis.
Haines JL, et al.
Am J Med Genet 42 : 542-545. 1992
Regional mapping of the Batten disease locus (CLN3) to human chromosome 16p12.
Callen DF, et al.
Am J Hum Genet 49 : 1372-1377. 1991
Batten disease (Spielmeyer-Vogt disease, juvenile onset neuronal ceroid-lipofuscinosis) gene (CLN3) maps to human chromosome 16.
Gardiner M, et al.
Genomics 8 : 387-390. 1990
Batten disease (Spielmeyer-Sjšgren disease) and haptoglobins (HP): indication of linkage and assignment to chromosome 16.
Eiberg H, et al.
Clin Genet 36 : 217-218. 1989