ArticleOpen biology2015
Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.
Article in Open biology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 58 citations in OpenAlex.
- Pediatric Anesthetic Management of a Patient With Warburg Micro Syndrome, a Rare Autosomal Recessive Genetic Disorder.Clinical case reports · 2025Article
- Biochemical and structural characterization of Rab3GAP reveals insights into Rab18 nucleotide exchange activity.Nature communications · 2025Article
- Article
- Rab18 maintains homeostasis of subcutaneous adipose tissue to prevent obesity-induced metabolic disorders.Science China. Life sciences · 2024Article
- Rab1b facilitates lipid droplet growth by ER-to-lipid droplet targeting of DGAT2.Science advances · 2024Article
- Porcine reproductive and respiratory syndrome virus 2 hijacks CMA-mediated lipolysis through upregulation of small GTPase RAB18.PLoS pathogens · 2024Article
- First Clinical Report of TwoJournal of pediatric genetics · 2023Review
- The Warburg micro syndrome protein RAB3GAP1 modulates neuronal morphogenesis and interacts with axon elongation end ER-Golgi trafficking factors.Neurobiology of disease · 2023Article
- Targeting small GTPases: emerging grasps on previously untamable targets, pioneered by KRAS.Signal transduction and targeted therapy · 2023Review
- Whole-Exome Sequencing and Copy Number Analysis in a Patient with Warburg Micro Syndrome.Genes · 2022Article
- NovelJournal of clinical neurology (Seoul, Korea) · 2022Article
- Global effects of RAB3GAP1 dysexpression on the proteome of mouse cortical neurons.Amino acids · 2021Article
- Axonal Endoplasmic Reticulum Dynamics and Its Roles in Neurodegeneration.Frontiers in neuroscience · 2020Review
- Rab18 Collaborates with Rab7 to Modulate Lysosomal and Autophagy Activities in the Nervous System: an Overlapping Mechanism for Warburg Micro Syndrome and Charcot-Marie-Tooth Neuropathy Type 2B.Molecular neurobiology · 2019Article
- Genetics of anophthalmia and microphthalmia. Part 2: Syndromes associated with anophthalmia-microphthalmia.Human genetics · 2019Review
- Rab18: new insights into the function of an essential protein.Cellular and molecular life sciences : CMLS · 2019Review
- ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy.PLoS genetics · 2019Article
- TRAPPing Rab18 in lipid droplets.The EMBO journal · 2017Article
- COPI-TRAPPII activates Rab18 and regulates its lipid droplet association.The EMBO journal · 2017Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
RAB18, RAB3GAP1, RAB3GAP2 and TBC1D20 are each mutated in Warburg Micro syndrome, a rare autosomal recessive multisystem disorder. RAB3GAP1 and RAB3GAP2 form a binary 'RAB3GAP' complex that functions as a guanine-nucleotide exchange factor (GEF) for RAB18, whereas TBC1D20 shows modest RAB18 GTPase-activating (GAP) activity in vitro. Here, we show that in the absence of functional RAB3GAP or TBC1D20, the level, localization and dynamics of cellular RAB18 is altered. In cell lines where TBC1D20 is absent from the endoplasmic reticulum (ER), RAB18 becomes more stably ER-associated and less cytosolic than in control cells. These data suggest that RAB18 is a physiological substrate of TBC1D20 and contribute to a model in which a Rab-GAP can be essential for the activity of a target Rab. Together with previous reports, this indicates that Warburg Micro syndrome can be caused directly by loss of RAB18, or indirectly through loss of RAB18 regulators RAB3GAP or TBC1D20.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.