Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation

por Handley, Mark T., Carpanini, Sarah M., Mali, Girish R., Sidjanin, Duska J., Aligianis, Irene A., Jackson, Ian J., FitzPatrick, David R.
Publicado 2015

ZMYND10 functions in a chaperone relay during axonemal dynein assembly

por Mali, Girish R, Yeyati, Patricia L, Mizuno, Seiya, Dodd, Daniel O, Tennant, Peter A, Keighren, Margaret A, zur Lage, Petra, Shoemark, Amelia, Garcia-Munoz, Amaya, Shimada, Atsuko, Takeda, Hiroyuki, Edlich, Frank, Takahashi, Satoru, von Kreigsheim, Alex, Jarman, Andrew P, Mill, Pleasantine
Publicado 2018

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

por Ford, Matthew J., Yeyati, Patricia L., Mali, Girish R., Keighren, Margaret A., Waddell, Scott H., Mjoseng, Heidi K., Douglas, Adam T., Hall, Emma A., Sakaue-Sawano, Asako, Miyawaki, Atsushi, Meehan, Richard R., Boulter, Luke, Jackson, Ian J., Mill, Pleasantine, Mort, Richard L.
Publicado 2018

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins

por Hall, Emma A., Nahorski, Michael S., Murray, Lyndsay M., Shaheen, Ranad, Perkins, Emma, Dissanayake, Kosala N., Kristaryanto, Yosua, Jones, Ross A., Vogt, Julie, Rivagorda, Manon, Handley, Mark T., Mali, Girish R., Quidwai, Tooba, Soares, Dinesh C., Keighren, Margaret A., McKie, Lisa, Mort, Richard L., Gammoh, Noor, Garcia-Munoz, Amaya, Davey, Tracey, Vermeren, Matthieu, Walsh, Diana, Budd, Peter, Aligianis, Irene A., Faqeih, Eissa, Quigley, Alan J., Jackson, Ian J., Kulathu, Yogesh, Jackson, Mandy, Ribchester, Richard R., von Kriegsheim, Alex, Alkuraya, Fowzan S., Woods, C. Geoffrey, Maher, Eamonn R., Mill, Pleasantine
Publicado 2017