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A human dynein heavy chain mutation impacts cortical progenitor cells causing developmental defects, reduced brain size and altered brain architecture.

Neurobiology of disease - 1 May 2023

Romero Delfina M, Zaidi Donia, Cifuentes-Diaz Carmen, Maillard Camille, Grannec Gael, Selloum Mohammed, Birling Marie-Christine, Bahi-Buisson Nadia, Francis Fiona

Abstract excerpt

Dynein heavy chain (DYNC1H1) mutations can either lead to severe cerebral cortical malformations, or alternatively may be associated with the development of spinal muscular atrophy with lower extremity predominance (SMA-LED). To assess the origin of such differences, we studied a new Dync1h1 knock-in mouse carrying the cortical malformation p.Lys3334Asn mutation. Comparing with an existing neurodegenerative...

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PMID: 36933672
DOI: 10.1016/j.nbd.2023.106085

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