ReviewTrends in biochemical sciences2012
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.
Review in Trends in biochemical sciences, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
What it found
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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.
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Who cites it
63 citing papers in PubMed, 125 citations in OpenAlex.
- Roles in physiology and disease of the inositol phosphatase synaptojanin 1.Biochimica et biophysica acta. Molecular and cell biology of lipids · 2026Review
- Oncometabolite 5-IPNature chemical biology · 2026Article
- Genetic analysis and clinical characteristics of sporadic and familial congenital cataracts in southern Chinese families.Frontiers in genetics · 2026Article
- Physiological roles of phosphoinositides and inositol phosphates: Implications for metabolic dysfunction-associated steatotic liver disease.Clinical science (London, England : 1979) · 2025Review
- Dysregulation of Inositol Polyphosphate 5-Phosphatase OCRL in Alzheimer's Disease: Implications for Autophagy Dysfunction.International journal of molecular sciences · 2025Article
- Detection and annotation of unique regions in mammalian genomes.G3 (Bethesda, Md.) · 2025Article
- Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.Pediatric nephrology (Berlin, Germany) · 2024Article
- Base editing correction of OCRL in Lowe syndrome: ABE-mediated functional rescue in patient-derived fibroblasts.Human molecular genetics · 2024Article
- Alteration of gene expression and protein solubility of the PI 5-phosphatase SHIP2 are correlated with Alzheimer's disease pathology progression.Acta neuropathologica · 2024Article
- Article
- Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms.Journal of medical genetics · 2022Article
- Article
- Stochasticity and positive feedback enable enzyme kinetics at the membrane to sense reaction size.Proceedings of the National Academy of Sciences of the United States of America · 2021Article
- SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase.Cell reports · 2021Article
- Article
- Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes.Human molecular genetics · 2021Article
- Functions of Oxysterol-Binding Proteins at Membrane Contact Sites and Their Control by Phosphoinositide Metabolism.Frontiers in cell and developmental biology · 2021Review
- Optimized Vivid-derived Magnets photodimerizers for subcellular optogenetics in mammalian cells.eLife · 2020Article
- Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.Intractable & rare diseases research · 2020Article
- Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins.Human molecular genetics · 2020Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The precise regulation of phosphoinositide lipids in cellular membranes is crucial for cellular survival and function. Inositol 5-phosphatases have been implicated in a variety of disorders, including various cancers, obesity, type 2 diabetes, neurodegenerative diseases and rare genetic conditions. Despite the obvious impact on human health, relatively little structural and biochemical information is available for this family. Here, we review recent structural and mechanistic work on the 5-phosphatases with a focus on OCRL, whose loss of function results in oculocerebrorenal syndrome of Lowe and Dent 2 disease. Studies of OCRL emphasize how the actions of 5-phosphatases rely on both intrinsic and extrinsic membrane recognition properties for full catalytic function. Additionally, structural analysis of missense mutations in the catalytic domain of OCRL provides insight into the phenotypic heterogeneity observed in Lowe syndrome and Dent disease.
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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.