ArticleProceedings of the National Academy of Sciences of the United States of America2010
Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 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
42 citing papers in PubMed, 68 citations in OpenAlex.
- The power of five - inositol polyphosphate 5-phosphatase gene mutations at the intersection of development and disease.FEBS letters · 2026Review
- Identification of Two Novel Variants inHuman mutation · 2026Article
- Exploring the Shared Genetic Architectures Between Primary Open-Angle Glaucoma and Visual Pathway Regions in the Brain.Investigative ophthalmology & visual science · 2025Article
- Premature cognitive decline in a mouse model of tuberous sclerosis.Aging cell · 2024Article
- FAM109B plays a tumorigenic role in low-grade gliomas and is associated with tumor-associated macrophages (TAMs).Journal of translational medicine · 2024Article
- The inositol 5-phosphatase INPP5B regulates B cell receptor clustering and signaling.The Journal of cell biology · 2022Article
- SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase.Cell reports · 2021Article
- Review
- Article
- Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.Intractable & rare diseases research · 2020Article
- Deficiency in the endocytic adaptor proteins PHETA1/2 impairs renal and craniofacial development.Disease models & mechanisms · 2020Article
- A role for OCRL in glomerular function and disease.Pediatric nephrology (Berlin, Germany) · 2020Article
- FGF2 Affects Parkinson's Disease-Associated Molecular Networks Through Exosomal Rab8b/Rab31.Frontiers in genetics · 2020Article
- Lowe syndrome-linked endocytic adaptors direct membrane cycling kinetics with OCRL inMolecular biology of the cell · 2019Article
- IPIP27 Coordinates PtdIns(4,5)PCurrent biology : CB · 2019Article
- Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (Molecular vision · 2018Article
- Loss of OCRL increases ciliary PI(4,5)PJournal of cell science · 2017Article
- The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.Nature reviews. Nephrology · 2017Review
- Kidney Tubular Ablation ofJournal of the American Society of Nephrology : JASN · 2017Article
- OCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates.Molecular biology of the cell · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 3 countries.
Funding
Abstract
Mutations of the inositol 5' phosphatase oculocerebrorenal syndrome of Lowe (OCRL) give rise to the congenital X-linked disorders oculocerebrorenal syndrome of Lowe and Dent disease, two conditions giving rise to abnormal kidney proximal tubule reabsorption, and additional nervous system and ocular defects in the case of Lowe syndrome. Here, we identify two closely related endocytic proteins, Ses1 and Ses2, which interact with the ASH-RhoGAP-like (ASPM-SPD-2-Hydin homology and Rho-GTPase Activating Domain-like) domain of OCRL. The interaction is mediated by a short amino acid motif similar to that used by the rab-5 effector APPL1 (Adaptor Protein containing pleckstrin homology [PH] domain, PTB domain and Leucine zipper motif 1) APPL1 for OCRL binding. Ses binding is mutually exclusive with APPL1 binding, and is disrupted by the same missense mutations in the ASH-RhoGAP-like domain that also disrupt APPL1 binding. Like APPL1, Ses1 and -2 are localized on endosomes but reside on different endosomal subpopulations. These findings define a consensus motif (which we have called a phenylalanine and histidine [F&H] motif) for OCRL binding and are consistent with a scenario in which Lowe syndrome and Dent disease result from perturbations at multiple sites within the endocytic pathway.
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.