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Burghoorn, Jan
Publications (2 of 2) Show all publications
Massinen, S., Hokkanen, M.-E., Matsson, H., Tammimies, K., Tapia-Paez, I., Dahlstrom-Heuser, V., . . . Kere, J. (2011). Increased Expression of the Dyslexia Candidate Gene DCDC2 Affects Length and Signaling of Primary Cilia in Neurons. PLoS ONE, 6(6), e20580
Open this publication in new window or tab >>Increased Expression of the Dyslexia Candidate Gene DCDC2 Affects Length and Signaling of Primary Cilia in Neurons
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2011 (English)In: PLoS ONE, ISSN 1932-6203, E-ISSN 1932-6203, Vol. 6, no 6, p. e20580-Article in journal (Refereed) Published
Abstract [en]

DCDC2 is one of the candidate susceptibility genes for dyslexia. It belongs to the superfamily of doublecortin domain containing proteins that bind to microtubules, and it has been shown to be involved in neuronal migration. We show that the Dcdc2 protein localizes to the primary cilium in primary rat hippocampal neurons and that it can be found within close proximity to the ciliary kinesin-2 subunit Kif3a. Overexpression of DCDC2 increases ciliary length and activates Shh signaling, whereas downregulation of Dcdc2 expression enhances Wnt signaling, consistent with a functional role in ciliary signaling. Moreover, DCDC2 overexpression in C. elegans causes an abnormal neuronal phenotype that can only be seen in ciliated neurons. Together our results suggest a potential role for DCDC2 in the structure and function of primary cilia.

National Category
Biological Sciences
Identifiers
urn:nbn:se:sh:diva-14951 (URN)10.1371/journal.pone.0020580 (DOI)000291734100009 ()21698230 (PubMedID)2-s2.0-79959242358 (Scopus ID)
Available from: 2012-01-24 Created: 2012-01-24 Last updated: 2018-07-18Bibliographically approved
Miranda-Vizuete, A., Fierro Gonzalez, J. C., Gahmon, G., Burghoorn, J., Navas, P. & Swoboda, P. (2006). Lifespan decrease in a Caenorhabditis elegans mutant lacking TRX-1, a thioredoxin expressed in ASJ sensory neurons. FEBS Letters, 580(2), 484-490
Open this publication in new window or tab >>Lifespan decrease in a Caenorhabditis elegans mutant lacking TRX-1, a thioredoxin expressed in ASJ sensory neurons
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2006 (English)In: FEBS Letters, ISSN 0014-5793, E-ISSN 1873-3468, Vol. 580, no 2, p. 484-490Article in journal (Refereed) Published
Abstract [en]

Thioredoxins are a class of small proteins that play a key role in regulating many cellular redox processes. We report here the characterization of the first member of the thioredoxin family in metazoans that is mainly associated with neurons. The Caenorhabditis elegans gene B0228.5 encodes a thioredoxin (TRX-1) that is expressed in ASJ ciliated sensory neurons, and to some extent also in the posterior-most intestinal cells. TRX-1 is active at reducing protein disulfides in the presence of a heterologous thioredoxin reductase. A mutant worm strain carrying a null allele of the trx-1 gene displays a reproducible decrease in both mean and maximum lifespan when compared to wild-type. The identification and characterization of TRX-1 paves the way to use C elegans as an in vivo model to study the role of thioredoxins in lifespan and nervous system physiology and pathology.

National Category
Biochemistry and Molecular Biology Biophysics Cell Biology
Identifiers
urn:nbn:se:sh:diva-14310 (URN)10.1016/j.febslet.2005.12.046 (DOI)000234937400022 ()16387300 (PubMedID)2-s2.0-30644465295 (Scopus ID)
Available from: 2011-12-20 Created: 2011-12-20 Last updated: 2018-07-18Bibliographically approved
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