Imperial College London
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ProfessorAndrewBush

Faculty of Medicine, National Heart & Lung Institute

Professor of Paediatric Respirology
 
 
 
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Contact

 

+44 (0)20 7352 8121 ext 2255a.bush

 
 
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Location

 

Chelsea WingRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Olcese:2017:10.1038/ncomms14279,
author = {Olcese, C and Patel, MP and Shoemark, A and Kiviluoto, S and Legendre, M and Williams, HJ and Vaughan, CK and Hayward, J and Goldenberg, A and Emes, RD and Munye, MM and Dyer, L and Cahill, T and Bevillard, J and Gehrig, C and Guipponi, M and Chantot, S and Duquesnoy, P and Thomas, L and Jeanson, L and Copin, B and Tamalet, A and Thauvin-Robinet, C and Papon, J-F and Garin, A and Pin, I and Vera, G and Aurora, P and Fassad, MR and Jenkins, L and Boustred, C and Cullup, T and Dixon, M and Onoufriadis, A and Bush, A and Chung, EMK and Antonarakis, SE and Loebinger, MR and Wilson, R and Armengot, M and Escudier, E and Hogg, C and Amselem, S and Sun, Z and Bartoloni, L and Blouin, J-L and Mitchison, HM},
doi = {10.1038/ncomms14279},
journal = {Nature Communications},
title = {X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3},
url = {http://dx.doi.org/10.1038/ncomms14279},
volume = {8},
year = {2017}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - By moving essential body fluids and molecules, motile cilia and flagella govern respiratory mucociliaryclearance, laterality determination and the transport of gametes and cerebrospinal fluid. Primary ciliarydyskinesia (PCD) is an autosomal recessive disorder frequently caused by non-assembly of dynein armmotors into cilia and flagella axonemes. Before their import into cilia and flagella, multi-subunitaxonemal dynein arms are thought to be stabilized and pre-assembled in the cytoplasm through a DNAAF2–DNAAF4–HSP90 complex akin to the HSP90 co-chaperone R2TP complex. Here, we demonstrate that largegenomic deletions as well as point mutations involving PIH1D3 are responsible for an X-linked form of PCDcausing disruption of early axonemal dynein assembly. We propose that PIH1D3, a protein that emerges as anew player of the cytoplasmic pre-assembly pathway, is part of a complementary conserved R2TP-likeHSP90 co-chaperone complex, the loss of which affects assembly of a subset of inner arm dyneins.
AU  - Olcese,C
AU  - Patel,MP
AU  - Shoemark,A
AU  - Kiviluoto,S
AU  - Legendre,M
AU  - Williams,HJ
AU  - Vaughan,CK
AU  - Hayward,J
AU  - Goldenberg,A
AU  - Emes,RD
AU  - Munye,MM
AU  - Dyer,L
AU  - Cahill,T
AU  - Bevillard,J
AU  - Gehrig,C
AU  - Guipponi,M
AU  - Chantot,S
AU  - Duquesnoy,P
AU  - Thomas,L
AU  - Jeanson,L
AU  - Copin,B
AU  - Tamalet,A
AU  - Thauvin-Robinet,C
AU  - Papon,J-F
AU  - Garin,A
AU  - Pin,I
AU  - Vera,G
AU  - Aurora,P
AU  - Fassad,MR
AU  - Jenkins,L
AU  - Boustred,C
AU  - Cullup,T
AU  - Dixon,M
AU  - Onoufriadis,A
AU  - Bush,A
AU  - Chung,EMK
AU  - Antonarakis,SE
AU  - Loebinger,MR
AU  - Wilson,R
AU  - Armengot,M
AU  - Escudier,E
AU  - Hogg,C
AU  - Amselem,S
AU  - Sun,Z
AU  - Bartoloni,L
AU  - Blouin,J-L
AU  - Mitchison,HM
DO  - 10.1038/ncomms14279
PY  - 2017///
SN  - 2041-1723
TI  - X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3
T2  - Nature Communications
UR  - http://dx.doi.org/10.1038/ncomms14279
UR  - http://hdl.handle.net/10044/1/53589
VL  - 8
ER  -
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