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Although COL6 genetic variants were recently linked to brain pathologies, the impact of COL6 deficiency in brain function is still largely unknown. Here, a thorough behavioral characterization of COL6-null (Col6a1\u2013\/\u2013) mice unexpectedly revealed that COL6 deficiency leads to a significant impairment in sensorimotor gating and memory\/attention functions. In keeping with these behavioral abnormalities, Col6a1\u2013\/\u2013 mice displayed alterations in dopaminergic signaling, primarily in the prefrontal cortex. In vitro co-culture of SH-SY5Y neural cells with primary meningeal fibroblasts from wild-type and Col6a1\u2013\/\u2013 mice confirmed a direct link between COL6 ablation and defective dopaminergic activity, through a mechanism involving the inability of meningeal cells to sustain dopaminergic differentiation. Finally, patients affected by COL6-related myopathies were evaluated with an ad hoc neuropsychological protocol, revealing distinctive defects in attentional control abilities. Altogether, these findings point towards a previously undescribed role for COL6 in the proper maintenance of dopamine circuitry function and its related neurobehavioral features in both mice and humans.<\/jats:p>\n               <jats:p>This article has an associated First Person interview with the first author of the paper.<\/jats:p>","DOI":"10.1242\/dmm.049481","type":"journal-article","created":{"date-parts":[[2022,8,10]],"date-time":"2022-08-10T11:14:25Z","timestamp":1660130065000},"source":"Crossref","is-referenced-by-count":13,"title":["Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction"],"prefix":"10.1242","volume":"15","author":[{"given":"Ilaria","family":"Gregorio","sequence":"first","affiliation":[{"name":"University of Padova 1 Department of Molecular Medicine , , 35131 Padova , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maddalena","family":"Mereu","sequence":"additional","affiliation":[{"name":"University of Padova 2 Department of Pharmaceutical and Pharmacological Sciences , , 35131 Padova , Italy"},{"name":"Genetics of Cognition Laboratory, Neuroscience Area, Istituto Italiano di Tecnologia 3 , 16163 Genova , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9537-777X","authenticated-orcid":false,"given":"Gabriella","family":"Contarini","sequence":"additional","affiliation":[{"name":"University of Padova 2 Department of Pharmaceutical and Pharmacological Sciences , , 35131 Padova , Italy"},{"name":"Genetics of Cognition Laboratory, Neuroscience Area, Istituto Italiano di Tecnologia 3 , 16163 Genova , Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3075-6525","authenticated-orcid":false,"given":"Luca","family":"Bello","sequence":"additional","affiliation":[{"name":"ERN Neuromuscular Center 4 , Department of Neurosciences , , 35129 Padova , Italy"},{"name":"University of Padova 4 , 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