Key publications

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins
4 May 2017 in American Journal of Human Genetics, vol. 100, pp. 706-724
DOI: https://doi.org/10.1016/j.ajhg.2017.03.008
Research output: Contribution to Journal › Article (Published)

Gelsolin dysfunction causes photoreceptor loss in induced pluripotent cell and animal retinitis pigmentosa models
(10 pages) 16 Aug 2017 in Nature Communications, vol. 8
DOI: https://doi.org/10.1038/s41467-017-00111-8
Research output: Contribution to Journal › Article (E-pub ahead of print)

Ciliary dynein motor preassembly is regulated by Wdr92 in association with HSP90 co-chaperone, R2TP
9 May 2018 in Journal of Cell Biology
DOI: https://doi.org/10.1083/jcb.201709026
Research output: Contribution to Journal › Article (E-pub ahead of print)

ZMYND10 functions in a chaperone relay during axonemal dynein assembly
(27 pages) 13 Jul 2018 in eLIFE, vol. 7
DOI: https://doi.org/10.7554/eLife.34389
Research output: Contribution to Journal › Article (Published)

A Cell/Cilia Cycle Biosensor for Single-Cell Kinetics Reveals Persistence of Cilia after G1/S Transition Is a General Property in Cells and Mice
19 Nov 2018 in Developmental Cell, vol. 47, pp. 509-523.e5
DOI: https://doi.org/10.1016/j.devcel.2018.10.027
Research output: Contribution to Journal › Article (Published)

View all 24 publications on Research Explorer

Data last updated: 14/06/2021 at 11:48