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

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

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-i...

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Bibliographic Details
Main Authors: Delfina M. Romero, Donia Zaidi, Carmen Cifuentes-Diaz, Camille Maillard, Gael Grannec, Mohammed Selloum, Marie-Christine Birling, Nadia Bahi-Buisson, Fiona Francis
Format: Article
Language:English
Published: Elsevier 2023-05-01
Series:Neurobiology of Disease
Subjects:
Dynein
Human mutations
Cortical malformations
SMA-LED
Progenitors
Development
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996123000992

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http://www.sciencedirect.com/science/article/pii/S0969996123000992

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