Imperial College London
Alternate

ProfessorMatthiasMerkenschlager

Faculty of Medicine, Institute of Clinical Sciences

Professor of Cell Biology
 
 
 
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Contact

 

+44 (0)20 3313 8239matthias.merkenschlager

 
 
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Location

 

5.11DLMS BuildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Weiss:2020:10.1101/2020.06.06.136432,
author = {Weiss, FD and Calderon, L and Wang, Y-F and Georgieva, R and Guo, Y and Cvetesic, N and Kaur, M and Dharmalingam, G and Krantz, ID and Lenhard, B and Fisher, AG and Merkenschlager, M},
doi = {10.1101/2020.06.06.136432},
title = {Partial rescue of neuronal genes deregulated in Cornelia de Lange Syndrome by cohesin},
url = {http://dx.doi.org/10.1101/2020.06.06.136432},
year = {2020}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - <jats:title>Abstract</jats:title><jats:p>Cornelia de Lange Syndrome (CdLS) is a human developmental disorder caused by mutations that compromise the function of cohesin, a major regulator of 3D genome organization. Cognitive impairment is a universal and as yet unexplained feature of CdLS. We characterized the transcriptional profile of cortical neurons from CdLS patients and found deregulation of hundreds of genes enriched for neuronal functions related to synaptic transmission, signalling processes, learning and behaviour. Inducible proteolytic cleavage of cohesin disrupted 3-D genome organization and transcriptional control in post-mitotic cortical mouse neurons. The genes affected belonged to similar gene ontology classes and showed significant numerical overlap with those deregulated in CdLS. Interestingly, gene expression was largely rescued by subsequent reconstitution of cohesin function. These experiments show that cohesin is continuously required for neuronal gene expression and provide a tractable approach for addressing mechanisms of neuronal dysfunction in CdLS.</jats:p>
AU  - Weiss,FD
AU  - Calderon,L
AU  - Wang,Y-F
AU  - Georgieva,R
AU  - Guo,Y
AU  - Cvetesic,N
AU  - Kaur,M
AU  - Dharmalingam,G
AU  - Krantz,ID
AU  - Lenhard,B
AU  - Fisher,AG
AU  - Merkenschlager,M
DO  - 10.1101/2020.06.06.136432
PY  - 2020///
TI  - Partial rescue of neuronal genes deregulated in Cornelia de Lange Syndrome by cohesin
UR  - http://dx.doi.org/10.1101/2020.06.06.136432
ER  -
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