Irene A. Aligianis
Edinburgh, SCT, United Kingdom
Last Updated: 09/26/2026
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Found 10 publications
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.
Journal: The Journal of biological chemistry
Published: March 16, 2023
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.
Journal: PLoS genetics
Published: July 31, 2018
PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.
Journal: American journal of human genetics
Published: January 01, 2017
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.
Journal: Open biology
Published: June 12, 2015
Rab18 and a Rab18 GEF complex are required for normal ER structure.
Journal: The Journal of cell biology
Published: June 04, 2014
A novel mouse model of Warburg Micro syndrome reveals roles for RAB18 in eye development and organisation of the neuronal cytoskeleton.
Journal: Disease models & mechanisms
Published: April 26, 2014
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.
Journal: Molecular genetics & genomic medicine
Published: December 10, 2013
Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans.
Journal: American journal of human genetics
Published: July 10, 2013
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in warburg micro syndrome and Martsolf syndrome.
Journal: Human mutation
Published: December 06, 2012
RAB3GAP1, RAB3GAP2 and RAB18: disease genes in Micro and Martsolf syndromes.
Journal: Biochemical Society transactions
Published: November 27, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026