[Microlissencephaly due to pathogenic variants of NDE1: from pathology to normal brain development]
Sara Cabet1, Laurent Guibaud2, Damien Sanlaville3
1Service de génétique, Hospices Civils de Lyon, groupement hospitalier Est, France - Service de radiologie, Hospices Civils de Lyon, groupement hospitalier Est, 59 boulevard Pinel, 69677 Bron Cedex, France.
Abstract:
Pathogenic variants of the gene NDE1 (Nuclear Distribution Element 1) in humans lead to microlissencephaly which associates a reduced head circumference and a simplified gyration. Microlissencephaly is the most severe deficit of neurogenesis described to date but its precise physiopathological mechanism is not yet well known. The NDE1 gene encodes a phosphoprotein that is essential to neurogenesis and that is expressed in various cell compartments of neuroblasts. More than 60 interaction partners with NDE1 have been reported, notably various proteins involved in formation of the mitotic spindle, in ciliation, in genome protection of dividing neuroblasts or even in apoptosis (like LIS1, dynein or cohesin), which are all avenues that we explore in this review.
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