Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

por Handley, Mark T, Mégarbané, André, Meynert, Alison M, Brown, Stephen, Freyer, Elisabeth, Taylor, Martin S, Jackson, Ian J, Aligianis, Irene A
Publicado 2014

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

A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton

por Carpanini, Sarah M., McKie, Lisa, Thomson, Derek, Wright, Ann K., Gordon, Sarah L., Roche, Sarah L., Handley, Mark T., Morrison, Harris, Brownstein, David, Wishart, Thomas M., Cousin, Michael A., Gillingwater, Thomas H., Aligianis, Irene A., Jackson, Ian J.
Publicado 2014

Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis

por Kiss, Robert S., Chicoine, Jarred, Khalil, Youssef, Sladek, Robert, Chen, He, Pisaturo, Alessandro, Martin, Cyril, Dale, Jessica D., Brudenell, Tegan A., Kamath, Archith, Kyei-Boahen, Jeffrey, Hafiane, Anouar, Daliah, Girija, Alecki, Célia, Hopes, Tayah S., Heier, Martin, Aligianis, Irene A., Lebrun, Jean-Jacques, Aspden, Julie, Paci, Emanuele, Kerksiek, Anja, Lütjohann, Dieter, Clayton, Peter, Wills, Jimi C., von Kriegsheim, Alex, Nilsson, Tommy, Sheridan, Eamonn, Handley, Mark T.
Publicado 2023

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