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Irene A Aligianis Selected Research

Warburg Sjo Fledelius syndrome

11/2023Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.
4/2006Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome.
3/2005Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome.

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Irene A Aligianis Research Topics

Disease

3Warburg Sjo Fledelius syndrome
11/2023 - 03/2005
1Seizures (Absence Seizure)
05/2017
1Brain Diseases (Brain Disorder)
05/2017
1recessive Cutis laxa
07/2014
1Multiple pterygium syndrome
08/2006
1Martsolf syndrome
04/2006
1Meckel syndrome type 1
02/2006
1Cone Dystrophy
06/2004

Drug/Important Bio-Agent (IBA)

2Proteins (Proteins, Gene)FDA Link
05/2017 - 02/2006
2Hormones (Hormone)IBA
04/2006 - 03/2005
2Neurotransmitter Agents (Neurotransmitter)IBA
04/2006 - 03/2005
2GTPase-Activating Proteins (GTPase-Activating Protein)IBA
04/2006 - 03/2005
1CholesterolIBA
11/2023
1Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA
11/2023
1UbiquitinIBA
05/2017
1EnzymesIBA
07/2014
1Cholinergic ReceptorsIBA
08/2006
1CalciumIBA
04/2006
1Nonsense Codon (Nonsense Mutation)IBA
06/2004
1Cyclic Nucleotide-Gated Cation ChannelsIBA
06/2004