Skip Navigation

This Article
Right arrow Full Text Freely available
Right arrow FREE Full Text (PDF) Freely available
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in ISI Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (118)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Jarvela, I.
Right arrow Articles by Jalanko, A.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Jarvela, I.
Right arrow Articles by Jalanko, A.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

Human Molecular Genetics, Vol 7, 85-90, Copyright © 1998 by Oxford University Press

ARTICLES

Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease

I Jarvela, M Sainio, T Rantamaki, VM Olkkonen, O Carpen, L Peltonen and A Jalanko
National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland. irma.jarvela@ktl.fi

Batten disease (juvenile-onset neuronal ceroid lipofuscinosis, JNCL), the most common neurodegenerative disorder of childhood, is caused by mutations in a recently identified gene ( CLN3 ) localized to chromosome 16p11.2-12.1. To elucidate the biosynthesis and localization of the CLN3 protein, we expressed CLN3 cDNA in COS-1 and HeLa cell lines. In vitro translation, immunoprecipitation and Western blotting analyses detected an approximately 43 kDa polypeptide. Pulse-chase experiments indicated that the CLN3 protein is synthesized as an N - glycosylated single-chain polypeptide, which was not detected in growth medium. Confocal immunofluorescence microscopy revealed that the CLN3 protein is localized to the lysosomal compartment. These results provide evidence that Batten disease can be classified as a member of lysosomal diseases.
Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Cell Sci.Home page
S. Codlin and S. E. Mole
S. pombe btn1, the orthologue of the Batten disease gene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vps10p
J. Cell Sci., April 15, 2009; 122(8): 1163 - 1173.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
M. Kousi, E. Siintola, L. Dvorakova, H. Vlaskova, J. Turnbull, M. Topcu, D. Yuksel, S. Gokben, B. A. Minassian, M. Elleder, et al.
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis
Brain, March 1, 2009; 132(3): 810 - 819.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
M.-H. Chen, S.-L. Liao, M.-H. Chen, P.-L. Tsou, M.-J. Shih, T.-C. Chang, and L.-M. Chuang
Lysosome-Related Genes Are Regulated in the Orbital Fat of Patients with Graves' Ophthalmopathy
Invest. Ophthalmol. Vis. Sci., November 1, 2008; 49(11): 4760 - 4764.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
J.-W. Chang, H. Choi, H.-J. Kim, D.-G. Jo, Y.-J. Jeon, J.-Y. Noh, W. J. Park, and Y.-K. Jung
Neuronal vulnerability of CLN3 deletion to calcium-induced cytotoxicity is mediated by calsenilin
Hum. Mol. Genet., February 1, 2007; 16(3): 317 - 326.
[Abstract] [Full Text] [PDF]

Home page
 J. Cell Sci.Home page
Y. Gachet, S. Codlin, J. S. Hyams, and S. E. Mole
btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis
J. Cell Sci., December 1, 2005; 118(23): 5525 - 5536.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
A. Kyttala, K. Yliannala, P. Schu, A. Jalanko, and J. P. Luzio
AP-1 and AP-3 Facilitate Lysosomal Targeting of Batten Disease Protein CLN3 via Its Dileucine Motif
J. Biol. Chem., March 18, 2005; 280(11): 10277 - 10283.
[Abstract] [Full Text] [PDF]

Home page
 J. Biol. Chem.Home page
S. Storch, S. Pohl, and T. Braulke
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
J. Biol. Chem., December 17, 2004; 279(51): 53625 - 53634.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
K. Luiro, K. Yliannala, L. Ahtiainen, H. Maunu, I. Jarvela, A. Kyttala, and A. Jalanko
Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway
Hum. Mol. Genet., December 1, 2004; 13(23): 3017 - 3027.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
S. Chattopadhyay, E. Kingsley, A. Serour, T. M. Curran, A. I. Brooks, and D. A. Pearce
Altered Gene Expression in the Eye of a Mouse Model for Batten Disease
Invest. Ophthalmol. Vis. Sci., September 1, 2004; 45(9): 2893 - 2905.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Biol. CellHome page
A. Kyttala, G. Ihrke, J. Vesa, M. J. Schell, and J. P. Luzio
Two Motifs Target Batten Disease Protein CLN3 to Lysosomes in Transfected Nonneuronal and Neuronal Cells
Mol. Biol. Cell, March 1, 2004; 15(3): 1313 - 1323.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
Y. Kim, D. Ramirez-Montealegre, and D. A. Pearce
A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease
PNAS, December 23, 2003; 100(26): 15458 - 15462.
[Abstract] [Full Text] [PDF]

Home page
 IOVSHome page
R. M. Sappington, D. A. Pearce, and D. J. Calkins
Optic Nerve Degeneration in a Murine Model of Juvenile Ceroid Lipofuscinosis
Invest. Ophthalmol. Vis. Sci., September 1, 2003; 44(9): 3725 - 3731.
[Abstract] [Full Text] [PDF]

Home page
 J. Neurosci.Home page
C. C. Wreden, J. Johnson, C. Tran, R. P. Seal, D. R. Copenhagen, R. J. Reimer, and R. H. Edwards
The H+-Coupled Electrogenic Lysosomal Amino Acid Transporter LYAAT1 Localizes to the Axon and Plasma Membrane of Hippocampal Neurons
J. Neurosci., February 15, 2003; 23(4): 1265 - 1275.
[Abstract] [Full Text] [PDF]

Home page
 Eukaryot CellHome page
S. Chattopadhyay and D. A. Pearce
Interaction with Btn2p Is Required for Localization of Rsg1p: Btn2p-Mediated Changes in Arginine Uptake in Saccharomyces cerevisiae
Eukaryot. Cell, August 1, 2002; 1(4): 606 - 612.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Biol. CellHome page
J. Vesa, M. H. Chin, K. Oelgeschlager, J. Isosomppi, E. C. DellAngelica, A. Jalanko, and L. Peltonen
Neuronal Ceroid Lipofuscinoses Are Connected at Molecular Level: Interaction of CLN5 Protein with CLN2 and CLN3
Mol. Biol. Cell, July 1, 2002; 13(7): 2410 - 2420.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
J. Isosomppi, J. Vesa, A. Jalanko, and L. Peltonen
Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein
Hum. Mol. Genet., April 15, 2002; 11(8): 885 - 891.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
K. Luiro, O. Kopra, M. Lehtovirta, and A. Jalanko
CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease
Hum. Mol. Genet., September 1, 2001; 10(19): 2123 - 2131.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. Lehtovirta, A. Kyttala, E.-L. Eskelinen, M. Hess, O. Heinonen, and A. Jalanko
Palmitoyl protein thioesterase (PPT) localizes into synaptosomes and synaptic vesicles in neurons: implications for infantile neuronal ceroid lipofuscinosis (INCL)
Hum. Mol. Genet., January 1, 2001; 10(1): 69 - 75.
[Abstract] [Full Text] [PDF]

Home page
 J. Bacteriol.Home page
S. Chattopadhyay, N. E. Muzaffar, F. Sherman, and D. A. Pearce
The Yeast Model for Batten Disease: Mutations in btn1, btn2, and hsp30 Alter pH Homeostasis
J. Bacteriol., November 15, 2000; 182(22): 6418 - 6423.
[Abstract] [Full Text]

Home page
 Hum Mol GenetHome page
L. Lonka, A. Kyttala, S. Ranta, A. Jalanko, and A.-E. Lehesjoki
The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum
Hum. Mol. Genet., July 1, 2000; 9(11): 1691 - 1697.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
R. E. Haskell, C. J. Carr, D. A. Pearce, M. J. Bennett, and B. L. Davidson
Batten disease: evaluation of CLN3 mutations on protein localization and function
Hum. Mol. Genet., March 22, 2000; 9(5): 735 - 744.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
L. Aberg, K. Liewendahl, P. Nikkinen, T. Autti, J. O. Rinne, and P. Santavuori
Decreased striatal dopamine transporter density in JNCL patients with parkinsonian symptoms
Neurology, March 14, 2000; 54(5): 1069 - 1074.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
D. A. Pearce, C. J. Carr, B. Das, and F. Sherman
Phenotypic reversal of the btn1 defects in yeast by chloroquine: A yeast model for Batten disease
PNAS, September 28, 1999; 96(20): 11341 - 11345.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
L. Peltonen, A. Jalanko, and T. Varilo
Molecular genetics of the Finnishdisease heritage
Hum. Mol. Genet., September 1, 1999; 8(10): 1913 - 1923.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
Y V Voznyi, J L M Keulemans, G M S Mancini, C E Catsman-Berrevoets, E Young, B Winchester, W J Kleijer, and O P van Diggelen
A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants
J. Med. Genet., June 1, 1999; 36(6): 471 - 474.
[Abstract] [Full Text]

Home page
 J. Neurosci.Home page
J. D. Cooper, A. Messer, A. K. Feng, J. Chua-Couzens, and W. C. Mobley
Apparent Loss and Hypertrophy of Interneurons in a Mouse Model of Neuronal Ceroid Lipofuscinosis: Evidence for Partial Response to Insulin-Like Growth Factor-1 Treatment
J. Neurosci., April 1, 1999; 19(7): 2556 - 2567.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
L. Lauronen, P. B. Munroe, I. Jarvela, T. Autti, H. M. Mitchison, A. M. O'Rawe, R. M. Gardiner, S. E. Mole, J. Puranen, A.-M. Hakkinen, et al.
Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis
Neurology, January 1, 1999; 52(2): 360 - 360.
[Abstract] [Full Text]

Home page
 Proc. Natl. Acad. Sci. USAHome page
D. A. Pearce and F. Sherman
A yeast model for the study of Batten disease
PNAS, June 9, 1998; 95(12): 6915 - 6918.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
J. J. Bellizzi III, J. Widom, C. Kemp, J.-Y. Lu, A. K. Das, S. L. Hofmann, and J. Clardy
The crystal structure of palmitoyl protein thioesterase 1 and the molecular basis of infantile neuronal ceroid lipofuscinosis
PNAS, April 25, 2000; 97(9): 4573 - 4578.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.