Format

Send to

Choose Destination

See 1 citation found by title matching your search:

Hum Mol Genet. 2019 Jan 1;28(1):64-73. doi: 10.1093/hmg/ddy329.

Modeling Cornelia de Lange syndrome in vitro and in vivo reveals a role for cohesin complex in neuronal survival and differentiation.

Author information

1
Dipartimento di Scienze della Salute, Università degli Studi di Milano, Milan, Italy.
2
Dipartimento di Biotecnologie Mediche e Medicina Traslazionale, Università degli Studi di Milano, Milan, Italy.
3
Centro Ricerca Tettamanti, Clinica Pediatrica, Università degli Studi di Milano-Bicocca, Fondazione MBBM/Ospedale S. Gerardo, Monza, Italy.
4
Fondazione IRCCS Istituto Neurologico C. Besta, Milano, Italy.
5
PhD program in Neuroscience, University of Milano-Bicocca, Monza, Italy.
6
Clinica Pediatrica, Università degli Studi di Milano-Bicocca, Fondazione MBBM/Ospedale S. Gerardo, Monza, Italy.
7
Dipartimento di Bioscienze, Università degli Studi di Milano, Milan, Italy.
8
UOC Pediatria, ASST Lariana, Como, Italy.

Abstract

Cornelia de Lange syndrome (CdLS), which is reported to affect ∼1 in 10 000 to 30 000 newborns, is a multisystem organ developmental disorder with relatively mild to severe effects. Among others, intellectual disability represents an important feature of this condition. CdLS can result from mutations in at least five genes: nipped-B-like protein, structural maintenance of chromosomes 1A, structural maintenance of chromosomes 3, RAD21 cohesin complex component and histone deacetylase 8 (HDAC8). It is believed that mutations in these genes cause CdLS by impairing the function of the cohesin complex (to which all the aforementioned genes contribute to the structure or function), disrupting gene regulation during critical stages of early development. Since intellectual disorder might result from alterations in neural development, in this work, we studied the role of Hdac8 gene in mouse neural stem cells (NSCs) and in vertebrate (Danio rerio) brain development by knockdown and chemical inhibition experiments. Underlying features of Hdac8 deficiency is an increased cell death in the developing neural tissues, either in mouse NSCs or in zebrafish embryos.

PMID:
30239720
DOI:
10.1093/hmg/ddy329
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Silverchair Information Systems
Loading ...
Support Center