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To explore the NCL-associated disease pathology and molecular pathways, we have previously produced targeted knock-out mice for <jats:italic>Cln1<\/jats:italic> and <jats:italic>Cln5<\/jats:italic>. Both mouse-models replicate the NCL phenotype and neuropathology; the <jats:italic>Cln1-\/-<\/jats:italic> model presents with early onset, severe neurodegenerative disease, whereas the <jats:italic>Cln5-\/-<\/jats:italic> model produces a milder disease with a later onset.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Here we have performed quantitative gene expression profiling of the cortex from 1 and 4 month old <jats:italic>Cln1-\/-<\/jats:italic> and <jats:italic>Cln5-\/- mice<\/jats:italic>. Combined microarray datasets from both mouse models exposed a common affected pathway: genes regulating neuronal growth cone stabilization display similar aberrations in both models. We analyzed locus specific gene expression and showed regional clustering of <jats:italic>Cln1<\/jats:italic> and three major genes of this pathway, further supporting a close functional relationship between the corresponding gene products; adenylate cyclase-associated protein 1 (Cap1), protein tyrosine phosphatase receptor type F (Ptprf) and protein tyrosine phosphatase 4a2 (Ptp4a2). The evidence from the gene expression data, indicating changes in the growth cone assembly, was substantiated by the immunofluorescence staining patterns of <jats:italic>Cln1-\/-<\/jats:italic> and <jats:italic>Cln5-\/-<\/jats:italic> cortical neurons. These primary neurons displayed abnormalities in cytoskeleton-associated proteins actin and \u03b2-tubulin as well as abnormal intracellular distribution of growth cone associated proteins GAP-43, synapsin and Rab3.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusion<\/jats:title>\n            <jats:p>Our data provide the first evidence for a common molecular pathogenesis behind neuronal degeneration in INCL and vLINCL. Since <jats:italic>CLN1<\/jats:italic> and <jats:italic>CLN5<\/jats:italic> code for proteins with distinct functional roles these data may have implications for other forms of NCLs as well.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2164-9-146","type":"journal-article","created":{"date-parts":[[2008,3,28]],"date-time":"2008-03-28T07:36:57Z","timestamp":1206689817000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":49,"title":["Brain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases"],"prefix":"10.1186","volume":"9","author":[{"given":"Carina","family":"von Schantz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juha","family":"Saharinen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Outi","family":"Kopra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jonathan D","family":"Cooper","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Massimiliano","family":"Gentile","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iiris","family":"Hovatta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leena","family":"Peltonen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anu","family":"Jalanko","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2008,3,28]]},"reference":[{"issue":"2","key":"1340_CR1","doi-asserted-by":"publisher","first-page":"80","DOI":"10.1016\/S0387-7604(88)80075-5","volume":"10","author":"P Santavuori","year":"1988","unstructured":"Santavuori P: Neuronal ceroid-lipofuscinoses in childhood. 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