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Article

Collagen VI deficiency causes behavioral abnormalities and cortical dopaminergic dysfunction.

Disease models & mechanisms - 1 Sept 2022

Gregorio Ilaria, Mereu Maddalena, Contarini Gabriella, Bello Luca, Semplicini Claudio, Burgio Francesca, Russo Loris, Sut Stefania, Dall'Acqua Stefano, Braghetta Paola, Semenza Carlo, Pegoraro Elena, Papaleo Francesco, Bonaldo Paolo, Cescon Matilde

Abstract excerpt

Mutations of genes coding for collagen VI (COL6) cause muscle diseases, including Ullrich congenital muscular dystrophy and Bethlem myopathy. 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-/-) mice unexpectedly revealed that COL6 deficiency leads to...

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Identifiers

PMID: 35946603
DOI: 10.1242/dmm.049481
PMCID: PMC9548377

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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