Imperial College London
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DrJavierAlegre Abarrategui

Faculty of Medicine, Department of Brain Sciences

Clinical Senior Lecturer in Neuropathology
 
 
 
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Contact

 

+44 (0)20 7594 6683j.alegre

 
 
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Assistant

 

Mrs Hadeel Abdeen +44 (0)20 7594 7014

 
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Location

 

E416Burlington DanesHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Agarwal:2020:10.1038/s41467-020-17876-0,
author = {Agarwal, D and Sandor, C and Volpato, V and Caffrey, TM and Monzón-Sandoval, J and Bowden, R and Alegre-Abarrategui, J and Wade-Martins, R and Webber, C},
doi = {10.1038/s41467-020-17876-0},
journal = {Nature Communications},
title = {A single-cell atlas of the human substantia nigra reveals cell-specific pathways associated with neurological disorders},
url = {http://dx.doi.org/10.1038/s41467-020-17876-0},
volume = {11},
year = {2020}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - We describe a human single-nuclei transcriptomic atlas for the substantia nigra (SN), generated by sequencing approximately 17,000 nuclei from matched cortical and SN samples. We show that the common genetic risk for Parkinson's disease (PD) is associated with dopaminergic neuron (DaN)-specific gene expression, including mitochondrial functioning, protein folding and ubiquitination pathways. We identify a distinct cell type association between PD risk and oligodendrocyte-specific gene expression. Unlike Alzheimer's disease (AD), we find no association between PD risk and microglia or astrocytes, suggesting that neuroinflammation plays a less causal role in PD than AD. Beyond PD, we find associations between SN DaNs and GABAergic neuron gene expression and multiple neuropsychiatric disorders. Conditional analysis reveals that distinct neuropsychiatric disorders associate with distinct sets of neuron-specific genes but converge onto shared loci within oligodendrocytes and oligodendrocyte precursors. This atlas guides our aetiological understanding by associating SN cell type expression profiles with specific disease risk.
AU  - Agarwal,D
AU  - Sandor,C
AU  - Volpato,V
AU  - Caffrey,TM
AU  - Monzón-Sandoval,J
AU  - Bowden,R
AU  - Alegre-Abarrategui,J
AU  - Wade-Martins,R
AU  - Webber,C
DO  - 10.1038/s41467-020-17876-0
PY  - 2020///
SN  - 2041-1723
TI  - A single-cell atlas of the human substantia nigra reveals cell-specific pathways associated with neurological disorders
T2  - Nature Communications
UR  - http://dx.doi.org/10.1038/s41467-020-17876-0
UR  - https://www.ncbi.nlm.nih.gov/pubmed/32826893
UR  - http://hdl.handle.net/10044/1/81896
VL  - 11
ER  -
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