Affinage

OCRL

Inositol polyphosphate 5-phosphatase OCRL · UniProt Q01968

Length
901 aa
Mass
104.2 kDa
Annotated
2026-06-10
100 papers in source corpus 43 papers cited in narrative 43 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 8/8 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

OCRL is an X-linked inositol polyphosphate 5-phosphatase that preferentially hydrolyzes PI(4,5)P2 and is the major PI(4,5)P2 5-phosphatase of kidney proximal tubule cells, where its loss causes PI(4,5)P2 accumulation (PMID:9430698). The enzyme operates across the secretory and endocytic system — the trans-Golgi network, clathrin-coated transport intermediates, early and recycling endosomes, phagosomes, macropinosomes, and the primary cilium — by being recruited to specific membranes through its ASH-RhoGAP module (PMID:10639484, PMID:15353600, PMID:15917292, PMID:22543976). Recruitment and catalysis are coupled: multiple Rab GTPases (Rab1, Rab5, Rab6, Rab8, Rab35) bind the ASH (Rab-binding) domain through an IgG-like β-strand interface and directly stimulate 5-phosphatase activity, so that membrane targeting and enzymatic action are activated together (PMID:16902405, PMID:16777452, PMID:21378754, PMID:26725203). A conserved F&H motif in the same module engages the endocytic adaptors APPL1 and Ses1/2 (IPIP27A/B) in a mutually exclusive manner, and these interactions are uniformly abolished by disease-causing missense mutations, which act either by destabilizing the RhoGAP fold or by disrupting Rab5 binding (PMID:17765681, PMID:20133602, PMID:21666675). By locally removing PI(4,5)P2, OCRL drives clathrin coat shedding and uncoating via SNX9, restrains N-WASP- and Rac1/cofilin-dependent F-actin polymerization, and promotes carrier scission and receptor recycling, including endosome-to-TGN transport of the mannose-6-phosphate receptor and recycling of the endocytic receptor megalin/LRP2 (PMID:21971085, PMID:25107275, PMID:22907655, PMID:26725203, PMID:30590522). The same lipid-control function underlies abscission during cytokinesis, ciliogenesis and ciliary lipid identity, macropinosome and phagosome sealing, and a lysosomal PI(4,5)P2–mucolipin-1 signal that permits autophagosome–lysosome fusion (PMID:21706022, PMID:22228094, PMID:27398910, PMID:28871046, PMID:33722976). OCRL and its paralog INPP5B have overlapping essential functions: single Ocrl loss is tolerated in mice while combined loss is embryonic-lethal, and proximal-tubule endocytic failure with PI(4,5)P2-driven F-actin hyperpolymerization underlies the renal phenotype (PMID:30590522, PMID:9593760, PMID:27895154). Loss-of-function mutations in OCRL cause Lowe syndrome and Dent disease 2, with the milder Dent-2 phenotype explained by an exon-8-derived 80 kDa isoform that retains 5-phosphatase activity when N-terminal truncations spare it (PMID:34586410).

Mechanistic history

Synthesis pass · year-by-year structured walk · 13 steps
  1. 1998 High

    Establishing OCRL's biochemical identity answered what the gene product does enzymatically and linked its loss to a defined lipid imbalance in the affected tissue.

    Evidence In vitro substrate-preference enzymatic assays plus PI(4,5)P2 quantification in Lowe patient proximal-tubule cells lacking OCRL

    PMID:9430698

    Open questions at the time
    • Lysosomal association reported but membrane-recruitment mechanism unknown at this stage
    • Did not address how a single enzyme deficiency produces multi-organ disease
  2. 1998 High

    Mouse genetics resolved why OCRL loss is far milder in mice than humans, revealing functional redundancy with the paralog INPP5B.

    Evidence Targeted Ocrl1 and Inpp5b single and double knockouts in mice

    PMID:9593760

    Open questions at the time
    • Molecular basis of paralog redundancy not defined
    • Did not explain the species-specific phenotypic divergence mechanistically
  3. 2000 High

    Localizing OCRL to the TGN placed the enzyme at a specific membrane trafficking station rather than diffusely at lysosomes.

    Evidence Immunofluorescence, subcellular fractionation, and brefeldin A perturbation in fibroblasts and kidney epithelial cells

    PMID:10639484

    Open questions at the time
    • Recruitment determinants not identified
    • Functional consequence of TGN localization untested
  4. 2004 High

    Linking OCRL physically to clathrin and AP-2 connected the phosphatase to the clathrin coat machinery and to dynamic endosomal trafficking.

    Evidence GST binding assays with clathrin terminal domain and AP-2 plus live-cell imaging on endosomes; clathrin assembly assay and CI-MPR trafficking readouts

    PMID:15353600 PMID:15917292

    Open questions at the time
    • Whether clathrin binding precedes or follows membrane targeting unresolved
    • Catalytic versus scaffolding contribution to retrograde transport not separated
  5. 2006 High

    Discovery that Rab GTPases both target OCRL and stimulate its activity unified membrane recruitment with catalytic activation into a single regulatory logic.

    Evidence Co-IP and pulldown with Rab1/5/6, point mutants defective in Rab binding, and in vitro 5-phosphatase stimulation assays; RhoGAP-domain disease mutants reducing activity 85-90%

    PMID:16777452 PMID:16902405

    Open questions at the time
    • Structural basis of Rab-stimulated activation not yet defined
    • Why the RhoGAP domain controls enzymatic activity unclear at this stage
  6. 2010 Medium

    Identifying the F&H motif and its adaptors (APPL1, Ses1/2) defined how OCRL is anchored to distinct endocytic compartments and why all ASH-RhoGAP disease mutations converge on lost adaptor binding.

    Evidence Co-IP, competition binding assays, and systematic disease-mutation analysis of APPL1 and Ses1/2 (IPIP27A/B) binding

    PMID:18307981 PMID:20133602 PMID:21233288

    Open questions at the time
    • What determines APPL1- versus Ses-bound pools in cells not established
    • Single-lab Co-IP evidence for the mutual exclusivity model
  7. 2011 High

    Crystal structures of the Rab-binding and RhoGAP domains explained membrane positioning and partitioned disease mutations into mechanistically distinct classes.

    Evidence X-ray crystallography of the ASH domain–Rab8a complex and of the RhoGAP/F&H site, with SPR kinetics and disease-mutation mapping

    PMID:17765681 PMID:21378754 PMID:21666675

    Open questions at the time
    • Full-length OCRL architecture and how all modules coordinate on a membrane not resolved
    • Conformational basis of Rab-stimulated catalysis not directly visualized
  8. 2011 High

    Connecting OCRL to early-endosome recycling, cytokinesis abscission, and phagosome maturation defined the downstream consequence of local PI(4,5)P2 removal: control of F-actin via N-WASP and Rab35-dependent recruitment.

    Evidence siRNA depletion with receptor recycling, lipid imaging, N-WASP epistasis, Rab35 pulldown, patient cells, and pharmacological F-actin rescue

    PMID:21706022 PMID:21971085 PMID:22072788 PMID:22907655

    Open questions at the time
    • How distinct Rab/adaptor combinations specify each compartment not fully mapped
    • Relative contribution of actin regulators (N-WASP, cofilin/Rac1) across compartments unclear
  9. 2012 Medium

    Establishing OCRL's role in ciliogenesis and ciliary lipid identity extended its trafficking function to a structure central to the renal and developmental phenotypes.

    Evidence Cilium localization, patient/knockdown defects rescued by WT OCRL, Rab8/IPIP27-dependent ciliary trafficking, lipid reporters, and zebrafish knockdown

    PMID:22228094 PMID:22543976 PMID:28871046

    Open questions at the time
    • Direct link between ciliary PI(4,5)P2 control and disease phenotypes not proven
    • Single-lab in vivo evidence for ciliary trafficking model
  10. 2014 High

    Identifying OCRL as a clathrin uncoating factor recruited via SNX9 explained how its loss produces persistent coated vesicles and ectopic actin comets.

    Evidence Lowe patient fibroblasts, electron microscopy, and direct SNX9-OCRL pulldown

    PMID:25107275

    Open questions at the time
    • Order of SNX9 binding relative to Rab35 loading not resolved
    • Whether uncoating is driven by lipid hydrolysis or scaffolding not fully separated
  11. 2016 High

    Linking OCRL to a lysosomal PI(4,5)P2–mucolipin-1 axis showed how the enzyme governs autophagosome–lysosome fusion and offered a pharmacological correction in patient cells.

    Evidence siRNA, patient cells, mucolipin-1 functional assays, mtDNA/TLR9 cargo identification, and agonist rescue

    PMID:27398910

    Open questions at the time
    • How transient PI(4,5)P2 increase is generated and confined not detailed
    • Single high-rigor study
  12. 2019 High

    A humanized mouse model defined the in vivo proximal-tubule mechanism: endolysosomal PI(4,5)P2 accumulation drives F-actin hyperpolymerization that blocks LRP2/megalin trafficking, causing low-molecular-weight proteinuria.

    Evidence OcrlY/- humanized mouse with human INPP5B rescue, primary mPTC culture, F-actin quantification, urine analysis, and LRP2 trafficking assays

    PMID:25838181 PMID:27895154 PMID:30590522

    Open questions at the time
    • Therapeutic correction of the renal phenotype in vivo not demonstrated
    • Why other organs are spared in mice while affected in humans unresolved
  13. 2022 High

    Discovery of an exon-8-derived 80 kDa active isoform provided the molecular basis for the genotype-phenotype split between Dent disease 2 and Lowe syndrome.

    Evidence mRNA cloning from patient cells, in vitro expression, and 5-phosphatase activity assays across disease variants

    PMID:34586410

    Open questions at the time
    • Tissue distribution and physiological role of the short isoform not established
    • Why residual activity protects against ocular/neurological but not all renal features unclear

Open questions

Synthesis pass · forward-looking unresolved questions
  • How OCRL's full-length modular architecture coordinates Rab binding, adaptor selection, membrane curvature sensing, and catalytic activation in a single integrated cycle on a membrane remains unresolved.
  • No full-length structure on a membrane
  • Mechanism by which the RhoGAP/ASH module allosterically controls the phosphatase domain not defined
  • Compartment-specific partner choice rules not established

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0016787 hydrolase activity 3 GO:0060090 molecular adaptor activity 3 GO:0098772 molecular function regulator activity 2
Localization
GO:0005768 endosome 4 GO:0005794 Golgi apparatus 3 GO:0005929 cilium 3 GO:0031410 cytoplasmic vesicle 3 GO:0005764 lysosome 2 GO:0005886 plasma membrane 1
Pathway
R-HSA-5653656 Vesicle-mediated transport 4 R-HSA-9609507 Protein localization 3 R-HSA-1640170 Cell Cycle 2 R-HSA-1643685 Disease 2 R-HSA-9612973 Autophagy 1
Partners
APPL1CLATHRINIPIP27A/B (SES1/2)RAB35RAB5RAB6RAB8SNX9

Evidence

Reading pass · 43 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1998 OCRL encodes an inositol polyphosphate 5-phosphatase with marked preference for phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2), also hydrolyzing IP3, IP4, and PI(3,4,5)P3; it is the major PI(4,5)P2 5-phosphatase in kidney proximal tubule cells, and its loss leads to PI(4,5)P2 accumulation. OCRL protein is associated with lysosomal membranes in proximal tubule cells. In vitro enzymatic assay with substrate preference testing; cell lines from Lowe syndrome patient kidney proximal tubules lacking OCRL protein; lipid quantification showing PI(4,5)P2 accumulation; subcellular fractionation/immunolocalization to lysosomes The Journal of biological chemistry High 9430698
2000 OCRL1 (Ocrl1) localizes to the trans-Golgi network (TGN) in fibroblasts and kidney epithelial cells, as determined by immunofluorescence, subcellular fractionation, and brefeldin A perturbation assay. Immunofluorescence co-localization with TGN markers, subcellular fractionation, brefeldin A dynamic perturbation assay The journal of histochemistry and cytochemistry High 10639484
2003 OCRL1 interacts with activated Rac GTPase via its C-terminal RhoGAP domain both in vitro and by co-immunoprecipitation with endogenous OCRL1. A fraction of endogenous Rac co-localizes with OCRL1 and γ-adaptin in the TGN. The OCRL1 RhoGAP domain shows low Rac GAP activity in vitro and inhibits Rac-GTP-dependent membrane ruffles when expressed in cells. GST pulldown (in vitro binding), co-immunoprecipitation, immunofluorescence co-localization, in vitro GAP activity assay, Swiss 3T3 cell ruffle assay Human molecular genetics Medium 12915445
2004 OCRL localizes to endosomes and Golgi membranes in association with clathrin; it interacts directly with the clathrin terminal domain and clathrin adaptor AP-2, as shown by GST binding assays. Live-cell imaging confirmed dynamic OCRL localization on endosomes. Fluorescence microscopy (fixed and live-cell time-lapse), GST pulldown binding assay with clathrin terminal domain and AP-2 Proceedings of the National Academy of Sciences of the United States of America Medium 15353600
2005 OCRL1 is associated with clathrin-coated transport intermediates between the TGN and endosomes, interacts directly with clathrin heavy chain, and promotes clathrin assembly in vitro. Overexpression of OCRL1 causes redistribution of clathrin and CI-MPR to enlarged endosomal structures defective in retrograde trafficking to the TGN; depletion of OCRL1 causes partial redistribution of CI-MPR to early endosomes. Co-immunoprecipitation, direct clathrin assembly assay in vitro, overexpression and siRNA knockdown with immunofluorescence readout for CI-MPR trafficking Molecular biology of the cell High 15917292
2006 OCRL1 interacts with multiple Rab GTPases (Rab1, Rab5, Rab6 most strongly). Rab binding is required for targeting OCRL1 to the Golgi and endosomes, as point mutants defective in Rab binding fail to localize to these compartments. In vitro experiments demonstrate that Rab5 and Rab6 directly stimulate the 5-phosphatase activity of OCRL1. Co-immunoprecipitation, pulldown, point mutagenesis with subcellular localization readout, in vitro 5-phosphatase activity assay with Rab proteins The EMBO journal High 16902405
2006 Missense mutations I751N and A780P in the RhoGAP-homology domain of OCRL1 reduce enzyme (PI(4,5)P2 5-phosphatase) activity by 85-90% without affecting protein expression levels, demonstrating that the RhoGAP domain is important for enzymatic function. Wild-type but not the I751N mutant OCRL1 co-immunoprecipitates with Arf1 and Arf6, indicating the RhoGAP domain mediates interaction with Arf GTPases. In vitro phosphatase activity assay, co-immunoprecipitation with Arf1 and Arf6 Molecular genetics and metabolism Medium 16777452
2007 OCRL visits late-stage endocytic clathrin-coated pits and binds the Rab5 effector APPL1 on peripheral early endosomes. The interaction with APPL1 is mediated by the ASH-RhoGAP-like domains of OCRL and is abolished by disease-causing mutations. Crystallographic studies reveal a role of the ASH-RhoGAP-like domains in positioning the phosphatase domain at the membrane interface and show a clathrin box protruding from the RhoGAP-like domain. Co-immunoprecipitation, live-cell imaging, X-ray crystallography, disease-mutation analysis Developmental cell High 17765681
2008 All known disease-causing missense mutations in the ASH-RhoGAP domains of OCRL abolish the interaction with endocytic adaptor APPL1, which is the only OCRL interaction (among those tested) disrupted by all such mutations. APPL1 and Rab5 independently contribute to recruit OCRL to enlarged endosomes. Co-immunoprecipitation, expression of constitutively active Rab5, disease-mutation analysis Biochemical and biophysical research communications Medium 18307981
2008 OCRL1 (via its homolog Dd5P4 in Dictyostelium) restricts intracellular growth of Legionella pneumophila. OCRL1 localizes to Legionella-containing vacuoles (LCVs) in macrophages. The N-terminal domain of OCRL1 binds the Legionella effector LpnE. Complementation with catalytically inactive Dd5P4 fails to rescue the phenotype, demonstrating catalytic activity is required. Genetic complementation in Dictyostelium discoideum, fluorescence microscopy localization to LCVs, GST pulldown binding assay with LpnE, catalytically inactive mutant analysis Cellular microbiology Medium 19021631
2009 OCRL1 isoform a (brain-specific longer isoform) binds clathrin with higher affinity than isoform b and is significantly more enriched in clathrin-coated trafficking intermediates. A second clathrin-binding site was identified in OCRL1. Association with clathrin-coated intermediates requires Rab GTPase-mediated membrane association but not AP2 binding. Expression of the 5-phosphatase-deleted isoform a (but not isoform b equivalent) impairs transferrin endocytosis. Clathrin binding assays, subcellular fractionation, fluorescence microscopy, transferrin endocytosis assay The Journal of biological chemistry Medium 19211563
2009 Lowe syndrome patient fibroblasts lacking OCRL1 display defects in cell migration, spreading, and fluid-phase uptake. These defects are rescued by wild-type OCRL1 but not a phosphatase-deficient mutant, nor by the paralog Inpp5b. OCRL1 variants lacking AP2 or clathrin binding were less able to rescue migration, implicating these interactions in ruffle-mediated membrane remodeling. Cell migration assay, spreading assay, fluid-phase uptake assay, rescue with WT and mutant OCRL1 constructs in patient fibroblasts Human molecular genetics Medium 19700499
2010 Two endocytic proteins Ses1 and Ses2 (IPIP27A/B) interact with OCRL via a short phenylalanine and histidine (F&H) motif in the ASH-RhoGAP-like domain, the same site used by APPL1. Ses binding is mutually exclusive with APPL1 binding and is disrupted by the same disease-causing missense mutations. Co-immunoprecipitation, pulldown, competition binding assay, disease-mutation analysis Proceedings of the National Academy of Sciences of the United States of America Medium 20133602
2011 Active (GTP-bound) Rab35 directly interacts with OCRL and controls its localization at the intercellular bridge during cytokinesis. Depletion of Rab35 or OCRL inhibits cytokinesis abscission and causes local PI(4,5)P2 and F-actin accumulation in the intercellular bridge. Division defects in Lowe patient cell lines are rescued by low doses of F-actin depolymerization drugs, establishing that OCRL-mediated PI(4,5)P2 hydrolysis is required for F-actin remodeling during abscission. Pulldown with active Rab35, siRNA depletion, live-cell imaging, fluorescence microscopy, pharmacological rescue with F-actin depolymerizing drugs, patient cell lines Nature cell biology High 21706022
2011 OCRL controls early endosome (EE) function via its 5-phosphatase activity. OCRL depletion impairs recycling of multiple receptors including megalin, causing their retention in engorged EEs. The trafficking defects result from ectopic PI(4,5)P2 accumulation in EEs, which induces N-WASP-dependent increase in endosomal F-actin. siRNA knockdown, receptor recycling assays, lipid imaging, N-WASP manipulation, fluorescence microscopy The EMBO journal High 21971085
2011 OCRL and Inpp5B are recruited to nascent phagosomes as Rab5 effectors via the adaptor protein APPL1. Knockdown of APPL1 or inhibition of Rab5 impairs association of OCRL and Inpp5B with phagosomes and prolongs PI(4,5)P2 and actin presence on phagosomal membranes. APPL1 depletion accentuates Akt activation, linked to increased PI(4,5)P2 available for PI(3,4,5)P3 generation. siRNA knockdown, fluorescence microscopy, lipid imaging on phagosomes, Akt activation assay Molecular biology of the cell Medium 22072788
2011 IPIP27A and IPIP27B (Ses1 and Ses2) bind OCRL1 and the related phosphatase Inpp5b via a conserved motif in the C-terminal region of these phosphatases. IPIP27A/B localize to early and recycling endosomes and the TGN, form homo- and heterodimers, and are required for receptor recycling from endosomes both to the TGN and to the plasma membrane. Co-immunoprecipitation, siRNA knockdown with receptor recycling assays, fluorescence microscopy Molecular biology of the cell Medium 21233288
2011 Crystal structure of the Rab-binding domain (RBD/ASH domain) of OCRL1 in complex with Rab8a reveals that the Rab-binding interface consists mainly of the IgG-like β-strand structure of the ASPM-SPD-2-Hydin domain plus one α-helix, distinct from other Rab effectors. Kinetic analysis showed binding to Rab1b, Rab5a, Rab6a, and Rab8a. Disease-causing mutations in the RBD affect Rab binding. X-ray crystallography, kinetic binding analysis (surface plasmon resonance), disease-mutation analysis The EMBO journal High 21378754
2011 X-ray crystallography of the OCRL RhoGAP domain identified the F&H motif binding site. Disease-associated missense mutations in the ASH-RhoGAP domain disrupt F&H binding indirectly by destabilizing the RhoGAP fold. A disease mutation that does not perturb F&H binding and ASH-RhoGAP stability instead disrupts the interaction of OCRL with Rab5. X-ray crystallography, binding assays, mutagenesis with functional analysis of APPL1/Ses binding and Rab5 binding Nature structural & molecular biology High 21666675
2012 OCRL localizes to the primary cilium of retinal pigment epithelial cells, fibroblasts, and kidney tubular cells. Lowe syndrome-associated mutations in OCRL result in shortened cilia, rescued by wild-type OCRL re-expression. In vivo, knockdown of ocrl in zebrafish causes defective cilia formation in Kupffer's vesicles and cilia-dependent phenotypes. Fluorescence microscopy of primary cilia, rescue experiments with WT OCRL, zebrafish morpholino knockdown Human molecular genetics Medium 22543976
2012 OCRL1 is required for primary cilia assembly; patient cells and OCRL1 knockdown cells show defects in cilia assembly rescued by WT OCRL1. OCRL1 is involved in protein trafficking to the primary cilia in a Rab8- and IPIP27/Ses-dependent manner. siRNA knockdown, rescue with WT OCRL1, patient cell lines, zebrafish model, fluorescence microscopy, trafficking assays Human molecular genetics Medium 22228094
2012 OCRL loss in Lowe syndrome patient fibroblasts impairs clathrin-mediated endocytosis, causing accumulation of clathrin-coated vesicles and U-shaped clathrin-coated pits. Endocytic vesicles that fail to shed their coat nucleate actin comets. SNX9, which couples late-stage endocytic pits to actin polymerization, binds OCRL directly and remains associated with uncoated vesicles in patient cells, establishing OCRL as an uncoating factor. Patient fibroblast analysis, electron microscopy, direct pulldown of SNX9-OCRL, fluorescence microscopy of coated vesicles and actin comets eLife High 25107275
2012 OCRL depletion in HeLa cells decreases endosome-to-TGN transport of the mannose 6-phosphate receptor (MPR), leading to its accumulation in enlarged retromer-positive endosomes and higher surface levels of MPR. Wild-type OCRL rescues MPR accumulation in an activity-dependent manner. OCRL depletion increases inactive phospho-cofilin and reduces active Rac1, while increasing active RhoA; overexpression of Rac1 rescues both cofilin phosphorylation and MPR accumulation, establishing a PI(4,5)P2–Rac1–cofilin signaling module downstream of OCRL. siRNA knockdown, fluorescence microscopy, receptor trafficking assays, GTPase activation assays (pulldown), cofilin phosphorylation immunoblotting, rescue by Rac1 overexpression Human molecular genetics Medium 22907655
2012 OCRL controls PI(4,5)P2 levels at the surface of endosomes during cytokinesis, restricting PI(4,5)P2 to the cell cortex. Drosophila dOCRL (ortholog of human OCRL1) is essential for cytokinesis, acting to dephosphorylate PI(4,5)P2 at endosomal surfaces. Drosophila genetic loss-of-function, live-cell imaging, PI(4,5)P2 reporters Communicative & integrative biology Medium 22896796
2012 OCRL suppresses the intestinal calcium channel TRPV6 via two separate mechanisms: (1) the PI(4,5)P2 5-phosphatase domain suppresses TRPV6-mediated Ca2+ transport by reducing PI(4,5)P2 levels without affecting TRPV6 surface abundance; (2) the Rab-binding domain regulates forward trafficking of TRPV6 to the cell surface. Dent-causing OCRL mutations alleviate inhibition of TRPV6-mediated Ca2+ transport. Xenopus oocyte expression system, Ca2+ uptake assays, cell surface quantification, antisense OCRL knockdown in Xenopus, Dent-mutation analysis American journal of physiology. Cell physiology Medium 22378746
2012 Through its phosphatase activity, OCRL restricts Listeria monocytogenes invasion by modulating PI(4,5)P2 and PI(3,4,5)P3 levels and actin dynamics at bacterial internalization foci. OCRL accumulates at invasion foci coincident with actin depolymerization; catalytically dead OCRL fails to rescue the phenotype. siRNA knockdown, live-cell imaging, fluorescence microscopy, rescue with enzymatically active vs. dead OCRL-a The Journal of biological chemistry Medium 22351770
2012 Bcl10 delivers the OCRL phosphatase to phagocytic cups via a complex with clathrin adaptors AP1 and EpsinR. OCRL locally regulates PI(4,5)P2 and F-actin turnover required for phagosome closure. Co-immunoprecipitation, siRNA knockdown, fluorescence microscopy, phagocytosis assays in human macrophages Developmental cell Medium 23153494
2015 Rab35 GTPase acts as a switch for OCRL recruitment on newborn endosomes immediately after scission of clathrin-coated vesicles (CCVs). Rab35 loading on CCVs follows DENND1A recruitment and EPI64B disappearance. Depletion of Rab35 or OCRL causes retention of CI-MPR in peripheral clathrin-positive endosomes with abnormal PI(4,5)P2 and actin-binding proteins. Live-cell imaging, siRNA knockdown, direct binding assays, fluorescence microscopy of endogenous receptors and lipids Current biology High 26725203
2015 OCRL1 is required for endocytosis in the zebrafish pronephric tubule in vivo; OCRL1 deficiency causes reduced megalin levels and accumulation in endocytic compartments, reduced numbers of early endosomes, and enlarged vacuolar endosomes. Catalytic activity of OCRL1 is required for renal tubular endocytosis, and the endocytic defect is rescued by suppression of PIP5K. Zebrafish ocrl1 mutant model, fluorescence/electron microscopy, endocytosis assays, rescue by PIP5K suppression PLoS genetics High 25838181
2015 OCRL1 interacts with F-BAR protein pacsin 2 via IPIP27A. OCRL1 and IPIP27A localize to MPR-containing trafficking intermediates; loss of either protein impairs MPR carrier biogenesis at TGN and endosomes. OCRL1 5-phosphatase activity (which is stimulated by membrane curvature and further by IPIP27A-mediated engagement with pacsin 2) promotes scission of MPR-containing carriers. Co-immunoprecipitation, siRNA knockdown, live-cell imaging, MPR trafficking assay, in vitro phosphatase activity assay with membrane curvature Molecular biology of the cell Medium 26510499
2015 OCRL1 acts as a RacGAP in chondrocytes. Overexpression of OCRL1 inhibits Rac1 activity and chondrocyte hypertrophy; knockdown elevates Rac1 activity and promotes hypertrophy/mineralization. The GAP activity requires the GAP domain. Intraarticular injection of OCRL1-encoding lentivirus protects against cartilage destruction in a mouse OA model. Rac1 activity pulldown assay, lentiviral overexpression and knockdown, alkaline phosphatase staining, mouse OA intraarticular injection model Arthritis & rheumatology Medium 25917196
2016 OCRL plays a key role in a lysosomal response to autophagosome-lysosome fusion. Mitochondrial DNA delivered by autophagosomes activates TLR9 as cargo/receptor. A local, transient increase in PI(4,5)P2 is confined by OCRL. OCRL depletion causes accumulation of lysosomal PI(4,5)P2, which inhibits the calcium channel mucolipin-1, blocking autophagosome-lysosome fusion. Boosting mucolipin-1 activity with agonists restores autophagic flux in Lowe syndrome patient cells. siRNA knockdown, Lowe patient cell lines, PI(4,5)P2 and mucolipin-1 functional assays, TLR9/mtDNA identification as cargo/receptor, pharmacological rescue Nature cell biology High 27398910
2017 OCRL loss increases PI(4,5)P2 and decreases PI4P in primary cilia, with PI(4,5)P2 build-up particularly at the transition zone. This is reversed by reintroduction of OCRL. In Lowe syndrome mouse model MEFs, accumulation of sonic hedgehog in response to hedgehog agonist is decreased. Fluorescence microscopy with PI(4,5)P2 and PI4P reporters in patient fibroblasts and MEFs from Lowe mouse model; rescue with WT OCRL; Hedgehog pathway readout Journal of cell science Medium 28871046
2019 In a humanized mouse model (OcrlY/- with human INPP5B rescue of Inpp5b lethality), OCRL deficiency causes massive urinary loss of low-molecular-weight proteins and albumin due to selective impairment of receptor-mediated endocytosis in proximal tubule cells. PI(4,5)P2 accumulation in endolysosomes drives local F-actin hyper-polymerization, impairing trafficking of the LRP2 endocytic receptor. OCRL deficiency also disrupts lysosomal dynamics and proteolytic activity. Humanized mouse model, primary mPTC culture, urine analysis, fluorescence microscopy, F-actin quantification, receptor trafficking assay for LRP2 Human molecular genetics High 30590522
2021 Rab5 recruits OCRL and Inpp5b to macropinosomes via APPL1, downstream of membrane ruffling. This recruitment mediates PI(4,5)P2 removal required for macropinosome sealing/scission. Knockdown of OCRL and Inpp5b, or APPL1, prevents macropinosome closure without affecting ruffling. siRNA knockdown, dominant-negative Rab5, fluorescence microscopy, PI(4,5)P2 imaging, macropinocytosis assay Journal of cell science Medium 33722976
2021 Legionella effector SdhA binds the OCRL ASH domain and blocks OCRL's interactions with Rab GTPases (without directly altering its catalytic 5-phosphatase activity), thereby hijacking OCRL function to maintain vacuole integrity. OCRL depletion enhances vacuole integrity and intracellular growth of a sdhA mutant. Overexpressed SdhA causes endosomal PI(4,5)P2 accumulation and interferes with endosomal trafficking. Co-immunoprecipitation, OCRL knockdown, fluorescence microscopy of vacuole integrity and endosomal markers, in vitro binding assay mapping interaction to ASH domain, 5-phosphatase activity assay Cell reports High 34731604
2021 OCRL deficiency in megakaryocytes and platelets causes defective actomyosin cytoskeleton reorganization: reduced Rac1 activity, elevated active RhoA, increased phosphorylated (inactive) myosin light chain (P-MLC), resulting in deficient proplatelet extension and impaired platelet spreading and clot retraction. OCRL depletion with siOCRL in control MKs reproduces the proplatelet extension defect. Case-control study on patient platelets/MKs, GTPase activation pulldown assay, MLC phosphorylation immunoblotting, siRNA knockdown in MKs, flow-based thrombus formation assay British journal of haematology Medium 33528045
2022 A novel OCRL protein isoform translated from exon 8 (80 kDa) retains equivalent 5-phosphatase enzyme activity to full-length OCRL. Truncating mutations in exons 1–7 (Dent disease-2) produce this shorter functional isoform with >50% activity, whereas truncating mutations in exons 8–24 (Lowe syndrome) produce no detectable protein and <20% activity, explaining the phenotypic difference between the two diseases. mRNA cloning from patient urine-derived cells, in vitro protein expression analysis, 5-phosphatase activity assay, transfection into HeLa cells Nephrology, dialysis, transplantation High 34586410
1998 Targeted disruption of mouse Ocrl1 produces no phenotype (no cataracts, renal Fanconi syndrome, or neurological abnormalities), but double knockout of Ocrl1 and Inpp5b results in embryonic lethality with no live-born mice, demonstrating overlapping essential functions of the two paralogs in mice. Targeted gene disruption in mice (Ocrl1-/- and Inpp5b-/-), double mutant crosses, embryo analysis The Journal of clinical investigation High 9593760
2016 Kidney tubule-specific inactivation of Inpp5b on a global Ocrl-knockout mouse background results in low molecular weight proteinuria, phosphaturia, acidemia, and striking impairment of clathrin-dependent and -independent endocytosis in proximal tubules, phenocopying Dent disease caused by mutations in ClC-5. Conditional knockout mouse model (tubule-specific Inpp5b deletion on global Ocrl-/- background), urine analysis, electron microscopy of proximal tubules, endocytosis assays Journal of the American Society of Nephrology High 27895154
2005 Upon EGF-induced Rac activation in COS-7 cells, a fraction of OCRL1 translocates from the TGN to plasma membrane ruffles. In Lowe patient fibroblasts, PI(4,5)P2 accumulates strikingly in PDGF-induced ruffles compared with controls, indicating OCRL1 is active as a PI(4,5)P2 5-phosphatase in Rac-induced membrane ruffles. Fluorescence microscopy in live/fixed cells, GFP-PH domain PI(4,5)P2 reporter, patient fibroblast vs control comparison, growth factor stimulation Human molecular genetics Medium 15829501
2010 Rab31 interacts with OCRL-1 in oligodendrocytes (yeast two-hybrid, GST pulldown, co-immunoprecipitation) and recruits OCRL-1 to TGN domains where MPR-containing carrier formation occurs. siRNA depletion of Rab31 markedly decreases OCRL-1 levels in the TGN and endosomes. MPR is sorted to OCRL-1-containing carriers. Yeast two-hybrid, GST pulldown, co-immunoprecipitation, siRNA knockdown, fluorescence microscopy Journal of neuroscience research Medium 19795375
2011 OCRL1 localizes to intercellular junctions at early stages of their formation, co-localizing with adherens and tight junctional components and forming complexes with α-catenin and ZO-1/2/3. Depletion of OCRL1 in epithelial sheets inhibits maturation, polarity, and proliferation; this effect requires the 5-phosphatase domain and is rescued by re-expressed OCRL1. In 3D cultures, OCRL1-depleted cells fail to form a central lumen and show incorrect ZO-1 distribution. Co-immunoprecipitation with junctional proteins, siRNA knockdown, rescue with WT and phosphatase-dead OCRL1, fluorescence microscopy in 2D and 3D culture PloS one Medium 21901156

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2004 Dent Disease with mutations in OCRL1. American journal of human genetics 259 15627218
2011 Rab35 GTPase and OCRL phosphatase remodel lipids and F-actin for successful cytokinesis. Nature cell biology 241 21706022
2007 A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway. Developmental cell 220 17765681
2011 OCRL controls trafficking through early endosomes via PtdIns4,5P₂-dependent regulation of endosomal actin. The EMBO journal 164 21971085
2005 Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein trafficking between endosomes and the trans-Golgi network. Molecular biology of the cell 154 15917292
2016 Autophagosome-lysosome fusion triggers a lysosomal response mediated by TLR9 and controlled by OCRL. Nature cell biology 144 27398910
1998 Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice. The Journal of clinical investigation 137 9593760
1998 Cell lines from kidney proximal tubules of a patient with Lowe syndrome lack OCRL inositol polyphosphate 5-phosphatase and accumulate phosphatidylinositol 4,5-bisphosphate. The Journal of biological chemistry 131 9430698
2006 Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases. The EMBO journal 127 16902405
2005 Structure and function of the Lowe syndrome protein OCRL1. Traffic (Copenhagen, Denmark) 121 16101675
2017 The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2. Nature reviews. Nephrology 116 28669993
2011 From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes. Human mutation 115 21031565
2011 Recruitment of OCRL and Inpp5B to phagosomes by Rab5 and APPL1 depletes phosphoinositides and attenuates Akt signaling. Molecular biology of the cell 115 22072788
2008 The inositol polyphosphate 5-phosphatase OCRL1 restricts intracellular growth of Legionella, localizes to the replicative vacuole and binds to the bacterial effector LpnE. Cellular microbiology 112 19021631
2004 The inositol polyphosphate 5-phosphatase Ocrl associates with endosomes that are partially coated with clathrin. Proceedings of the National Academy of Sciences of the United States of America 106 15353600
2014 The cellular and physiological functions of the Lowe syndrome protein OCRL1. Traffic (Copenhagen, Denmark) 99 24499450
2014 A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells. eLife 99 25107275
2009 Dent-2 disease: a mild variant of Lowe syndrome. The Journal of pediatrics 99 19559295
2012 Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. Trends in biochemical sciences 97 22381590
2012 OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome. Human molecular genetics 94 22543976
2003 Lowe syndrome protein OCRL1 interacts with Rac GTPase in the trans-Golgi network. Human molecular genetics 91 12915445
2012 The Lowe syndrome protein OCRL1 is involved in primary cilia assembly. Human molecular genetics 89 22228094
2000 Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells. The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society 85 10639484
1997 Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. American journal of human genetics 82 9199559
2015 Rab35 GTPase Triggers Switch-like Recruitment of the Lowe Syndrome Lipid Phosphatase OCRL on Newborn Endosomes. Current biology : CB 79 26725203
2011 A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1. The EMBO journal 76 21378754
1997 Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. Human genetics 73 9048911
2015 The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule. PLoS genetics 70 25838181
2012 The NF-κB signaling protein Bcl10 regulates actin dynamics by controlling AP1 and OCRL-bearing vesicles. Developmental cell 66 23153494
2009 Differential clathrin binding and subcellular localization of OCRL1 splice isoforms. The Journal of biological chemistry 65 19211563
2011 The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway. Molecular biology of the cell 59 21233288
2007 Regulation of phagocytosis in Dictyostelium by the inositol 5-phosphatase OCRL homolog Dd5P4. Traffic (Copenhagen, Denmark) 59 17343681
2010 Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1. Proceedings of the National Academy of Sciences of the United States of America 58 20133602
2006 Novel OCRL1 mutations in patients with the phenotype of Dent disease. American journal of kidney diseases : the official journal of the National Kidney Foundation 58 17162149
1993 Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. Human molecular genetics 58 8504307
2012 OCRL1 modulates cilia length in renal epithelial cells. Traffic (Copenhagen, Denmark) 54 22680056
2005 Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology. Human molecular genetics 52 15829501
2019 OCRL deficiency impairs endolysosomal function in a humanized mouse model for Lowe syndrome and Dent disease. Human molecular genetics 50 30590522
2008 All known patient mutations in the ASH-RhoGAP domains of OCRL affect targeting and APPL1 binding. Biochemical and biophysical research communications 49 18307981
2009 Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase. Human molecular genetics 47 19700499
2017 Loss of OCRL increases ciliary PI(4,5)P2 in Lowe oculocerebrorenal syndrome. Journal of cell science 46 28871046
2000 OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. Human mutation 43 10923037
2013 Compensatory Role of Inositol 5-Phosphatase INPP5B to OCRL in Primary Cilia Formation in Oculocerebrorenal Syndrome of Lowe. PloS one 41 23805271
1999 Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene. American journal of human genetics 41 10364518
2012 The 5-phosphatase OCRL mediates retrograde transport of the mannose 6-phosphate receptor by regulating a Rac1-cofilin signalling module. Human molecular genetics 38 22907655
2006 The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function. Molecular genetics and metabolism 38 16777452
1998 Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. Molecular genetics and metabolism 37 9682219
2018 Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 36 27708066
2012 Phosphatidylinositol 5-phosphatase oculocerebrorenal syndrome of Lowe protein (OCRL) controls actin dynamics during early steps of Listeria monocytogenes infection. The Journal of biological chemistry 36 22351770
1998 Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. American journal of medical genetics 36 9632163
2009 OCRL1 function in renal epithelial membrane traffic. American journal of physiology. Renal physiology 35 19940034
2007 OCRL1 mutations in patients with Dent disease phenotype in Japan. Pediatric nephrology (Berlin, Germany) 35 17384968
2012 Novel OCRL mutations in patients with Dent-2 disease. Journal of pediatric genetics 33 27625797
2014 OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells. Human molecular genetics 31 25305077
2011 Recognition of the F&H motif by the Lowe syndrome protein OCRL. Nature structural & molecular biology 31 21666675
2021 Rab5 regulates macropinocytosis by recruiting the inositol 5-phosphatases OCRL and Inpp5b that hydrolyse PtdIns(4,5)P2. Journal of cell science 30 33722976
2012 Suppression of intestinal calcium entry channel TRPV6 by OCRL, a lipid phosphatase associated with Lowe syndrome and Dent disease. American journal of physiology. Cell physiology 29 22378746
2004 OCRL mutation analysis in Italian patients with Lowe syndrome. Human mutation 29 15108291
2015 Down-regulation of Rac GTPase-activating protein OCRL1 causes aberrant activation of Rac1 in osteoarthritis development. Arthritis & rheumatology (Hoboken, N.J.) 28 25917196
2015 OCRL1 engages with the F-BAR protein pacsin 2 to promote biogenesis of membrane-trafficking intermediates. Molecular biology of the cell 26 26510499
2009 Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations. Pediatric nephrology (Berlin, Germany) 26 19582483
2000 Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Molecular genetics and metabolism 25 10767176
2016 Kidney Tubular Ablation of Ocrl/Inpp5b Phenocopies Lowe Syndrome Tubulopathy. Journal of the American Society of Nephrology : JASN 24 27895154
2010 Interaction of Rab31 and OCRL-1 in oligodendrocytes: its role in transport of mannose 6-phosphate receptors. Journal of neuroscience research 24 19795375
2012 An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes. European journal of human genetics : EJHG 22 23047739
2011 Lowe Syndrome protein OCRL1 supports maturation of polarized epithelial cells. PloS one 22 21901156
2018 Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease. Genes 21 29300302
2021 SdhA blocks disruption of the Legionella-containing vacuole by hijacking the OCRL phosphatase. Cell reports 20 34731604
2012 Crystal structure of the Rab binding domain of OCRL1 in complex with Rab8 and functional implications of the OCRL1/Rab8 module for Lowe syndrome. Small GTPases 20 22790198
2011 Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family. Human genetics 20 21225285
2015 The role of the Lowe syndrome protein OCRL in the endocytic pathway. Biological chemistry 18 26351914
2011 Clinical and laboratory features of Macedonian children with OCRL mutations. Pediatric nephrology (Berlin, Germany) 18 21249396
2013 Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects. Journal of pediatric genetics 17 27625841
2010 Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders. British journal of haematology 17 20629659
2010 Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene. Clinical biochemistry 16 20043897
2019 A role for OCRL in glomerular function and disease. Pediatric nephrology (Berlin, Germany) 15 31811534
2017 A comparison of splicing assays to detect an intronic variant of the OCRL gene in Lowe syndrome. European journal of medical genetics 15 28803024
2012 A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL. Klinische Padiatrie 15 22915452
2000 Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome. Clinical genetics 15 11149618
2016 Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome. Human mutation 14 27790796
1998 Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome. Clinical genetics 14 9788721
2021 Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature: OCRL Gene Pleiotropism or Extreme Phenotypic Variability of Lowe Syndrome? Genes 12 34680992
2015 Role of Ocrl1 in primary cilia assembly. International review of cell and molecular biology 12 26008789
1997 cDNA cloning and localization of OCRL-1 in rabbit kidney. The American journal of physiology 12 9374843
2021 Genotype & phenotype in Lowe Syndrome: specific OCRL1 patient mutations differentially impact cellular phenotypes. Human molecular genetics 11 33517444
2019 Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome. Molecular genetics & genomic medicine 11 31376231
2010 X-inactivation analysis of embryonic lethality in Ocrl wt/-; Inpp5b-/- mice. Mammalian genome : official journal of the International Mammalian Genome Society 11 20195868
2016 Digenic mutations of human OCRL paralogs in Dent's disease type 2 associated with Chiari I malformation. Human genome variation 10 28018608
2015 Nephrotic-range Albuminuria as the presenting symptom of Dent-2 disease. Italian journal of pediatrics 10 26108450
2012 Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome. American journal of medical genetics. Part A 10 22965764
2005 Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients. Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi 10 16381338
2021 Role of oculocerebrorenal syndrome of Lowe (OCRL) protein in megakaryocyte maturation, platelet production and functions: a study in patients with Lowe syndrome. British journal of haematology 9 33528045
2018 The structure of Legionella effector protein LpnE provides insights into its interaction with Oculocerebrorenal syndrome of Lowe (OCRL) protein. The FEBS journal 9 30479037
2016 Decreased urinary excretion of the ectodomain form of megalin (A-megalin) in children with OCRL gene mutations. Pediatric nephrology (Berlin, Germany) 9 27766457
2020 Insights into the Effect of Lowe Syndrome-Causing Mutation p.Asn591Lys of OCRL-1 through Protein-Protein Interaction Networks and Molecular Dynamics Simulations. Journal of chemical information and modeling 8 31967472
2014 A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome. The Tohoku journal of experimental medicine 8 24614960
2012 The unexpected role of Drosophila OCRL during cytokinesis. Communicative & integrative biology 8 22896796
2009 Abnormal bradykinin signalling in fibroblasts deficient in the PIP(2) 5-phosphatase, ocrl1. Journal of inherited metabolic disease 8 19172411
2008 Mutations in OCRL1 gene in Indian children with Lowe syndrome. Clinical and experimental nephrology 8 18500547
2022 Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome. Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 7 34586410

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