Affinage

ADGRV1

Adhesion G-protein coupled receptor V1 · UniProt Q8WXG9

Length
6306 aa
Mass
693.1 kDa
Annotated
2026-04-28
46 papers in source corpus 19 papers cited in narrative 19 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ADGRV1 (VLGR1) is the largest adhesion G protein-coupled receptor, functioning as a structural scaffold and active signaling receptor essential for sensory hair cell mechanotransduction, photoreceptor maintenance, ciliary biology, and astrocyte homeostasis. At developing cochlear stereocilia, ADGRV1 forms ankle links and organizes the Usher type 2 (USH2) protein complex with usherin, whirlin (WHRN), and PDZD7; its targeted deletion abolishes ankle links, disorganizes hair bundles, eliminates mechanotransduction, and causes deafness and audiogenic seizure susceptibility (PMID:16775142, PMID:15207856). Following GPS autocleavage, the ADGRV1 β-subunit constitutively inhibits adenylate cyclase via Gαi coupling, and through compartmentalized cAMP-PKA signaling suppresses WHRN phosphorylation to stabilize USH2A via the E3 ligase WDSUB1; PDZD7 modulates this signaling through a PDZ supramodule that engages the ADGRV1 C-terminal PDZ-binding motif (PMID:24962568, PMID:37066759, PMID:35836927). Beyond the inner ear and retina, ADGRV1 localizes to focal adhesions where it controls de novo FA assembly and mechanosensing, to mitochondria-associated ER membranes where it regulates ER-to-mitochondria Ca²⁺ transfer, and to primary cilia where its trafficking depends on TRiC/CCT-BBS chaperonins; in hippocampal astrocytes it maintains glutamate uptake and the glutamate–glutamine cycle (PMID:33851099, PMID:36139365, PMID:40103630, PMID:42002803).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2004 High

    Establishing that the intracellular signaling domain of VLGR1 is required to suppress audiogenic seizures revealed that VLGR1 is not merely an extracellular adhesion molecule but actively signals intracellularly in the CNS.

    Evidence Vlgr1/del7TM knock-in mice lacking transmembrane and cytoplasmic domains tested with audiogenic seizure paradigm

    PMID:15207856

    Open questions at the time
    • Downstream signaling pathway mediating seizure suppression not identified
    • Brain regions and cell types responsible not mapped
  2. 2006 High

    Identification of VLGR1 as the ankle link antigen in cochlear stereocilia and demonstration that its loss abolishes ankle links, disorganizes hair bundles, and eliminates mechanotransduction established the core structural role of VLGR1 in hair cell development.

    Evidence Vlgr1/del7TM knockout mice analyzed by immunoelectron microscopy, FM1-43 dye loading, whole-cell recordings, and ABR

    PMID:16775142 PMID:17295842

    Open questions at the time
    • Molecular composition of the ankle link filament beyond VLGR1 ectodomain not determined
    • Whether VLGR1 signals at stereocilia or acts only as a scaffold was unresolved
  3. 2006 High

    Demonstration that whirlin directly binds VLGR1b via PDZ domains and co-localizes with USH2A at photoreceptor and hair cell synapses placed VLGR1 at the center of an Usher syndrome protein interactome.

    Evidence Direct binding assays, reciprocal co-immunoprecipitation, and confocal co-localization in retina and cochlea

    PMID:16434480

    Open questions at the time
    • Stoichiometry and assembly order of the USH2 complex not defined
    • Functional consequence of whirlin–VLGR1 interaction for signaling not tested
  4. 2012 Medium

    Discovery that a VLGR1 splice variant traffics to the basolateral pole of hair cells and physically interacts with SNAP25 suggested a role in polarized vesicle docking beyond the stereocilia apex.

    Evidence Confocal co-localization, sucrose density gradients, co-immunoprecipitation in organ of Corti and brain

    PMID:23035094

    Open questions at the time
    • No functional rescue or loss-of-function vesicle trafficking assay performed
    • Interaction not validated by reciprocal pulldown with tagged SNAP25
    • Single lab finding
  5. 2014 High

    Demonstrating that the GPS-cleaved VLGR1 β-subunit constitutively inhibits adenylate cyclase via Gαi, with PDZD7 modulating this activity, resolved whether VLGR1 is an active GPCR rather than an inert adhesion molecule.

    Evidence Heterologous cAMP assays with Gαiq chimeras, ICL2 R6002A mutagenesis abolishing coupling, PDZD7 co-expression reducing AC inhibition

    PMID:24962568

    Open questions at the time
    • Whether Gαi coupling occurs in native hair cells not shown
    • Endogenous ligand or activation trigger unknown
  6. 2021 High

    Localization of VLGR1 to focal adhesions and demonstration that its depletion impairs FA number, cell spreading, migration, and mechanical stretch response extended VLGR1 function from sensory epithelia to general metabotropic mechanosensing.

    Evidence Affinity proteomics, siRNA knockdown in hTERT-RPE1, and Vlgr1-mutant mouse astrocytes with cell spreading, migration, and stretch assays

    PMID:33851099

    Open questions at the time
    • Signaling pathway downstream of VLGR1 at focal adhesions not identified
    • Whether Gαi coupling mediates the FA phenotype not tested
  7. 2022 High

    Structural determination of the PDZD7 PDZ1-2 supramodule binding the ADGRV1 C-terminal PBM, with deafness mutations reducing affinity, defined the molecular basis of PDZD7-mediated regulation of ADGRV1 GPCR activity.

    Evidence NMR structure, biophysical binding assays, mutagenesis of deafness-associated PDZD7 variants

    PMID:35836927

    Open questions at the time
    • In vivo consequences of disrupting PDZ–PBM interaction in animal models not tested
    • Whether other PDZ proteins compete for the same motif unknown
  8. 2022 High

    Localization of VLGR1 to mitochondria-associated ER membranes and demonstration that its absence dysregulates ER-to-mitochondria Ca²⁺ transfer uncovered a novel role in intracellular Ca²⁺ homeostasis.

    Evidence Pull-down, proximity ligation assay, immunoelectron microscopy, and Ca²⁺ imaging in Vlgr1-deficient mouse tissues and cells

    PMID:36139365

    Open questions at the time
    • Mechanism by which VLGR1 organizes MAM tethering complexes not delineated
    • Downstream consequences for mitochondrial function (respiration, apoptosis) not measured
  9. 2023 High

    Reconstitution of a cAMP-PKA-WHRN phosphorylation-WDSUB1 ubiquitination axis downstream of ADGRV1, disrupted by the pathogenic Y6236fsX1 mutation, provided the first complete signaling pathway from ADGRV1 to USH2A protein stability in stereocilia.

    Evidence Adgrv1 Y6236fsX1 knock-in mice, NMR, FlAsH-BRET, yeast two-hybrid identification of WDSUB1, ubiquitination and ABR/MET recordings

    PMID:37066759

    Open questions at the time
    • Whether WDSUB1-mediated ubiquitination of USH2A is degradative or regulatory not resolved
    • Spatial compartmentalization of PKA at ankle links not directly imaged
  10. 2023 Medium

    Zebrafish adgrv1 knockout confirmed ADGRV1 is required for USH2 complex integrity at the connecting cilium and for rhodopsin trafficking, validating the receptor's conserved role in photoreceptor function across vertebrates.

    Evidence CRISPR/Cas9 zebrafish KO with immunohistochemistry showing reduced usherin/Whrnb at connecting cilium and aberrant rhodopsin, plus decreased ERG B-wave

    PMID:37371069

    Open questions at the time
    • Mouse photoreceptor degeneration phenotype from Adgrv1 loss alone is mild; whether complete loss in mammalian retina suffices for RP is unclear
    • Single lab, single allele
  11. 2023 Medium

    Demonstrating that VLGR1 deficiency evokes autophagy (increased LC3/p62) in RPE cells and USH2C patient fibroblasts linked ADGRV1 to membrane stress responses beyond adhesion and signaling.

    Evidence Affinity proteomics identifying autophagosome components, immunoblotting of LC3/p62 in VLGR1-KO cells and patient fibroblasts

    PMID:37002809

    Open questions at the time
    • Whether autophagy induction is a direct effect or secondary to ER/MAM Ca²⁺ disruption not distinguished
    • Flux assays (bafilomycin block) not performed
  12. 2025 Medium

    Identification of TRiC/CCT-BBS chaperonins as required for ADGRV1 ciliary trafficking and ciliogenesis revealed the quality-control pathway that delivers ADGRV1 to primary cilia.

    Evidence Affinity proteomics, siRNA knockdown of CCT2/3 and BBS6 causing ADGRV1 proteasomal degradation and reduced cilia number/length, proteasome inhibitor rescue

    PMID:40103630

    Open questions at the time
    • Direct client–chaperone binding not demonstrated by in vitro reconstitution
    • Whether this pathway operates in photoreceptor connecting cilia in vivo not tested
  13. 2025 Medium

    Super-resolution STED imaging revealed that ADGRV1 extracellular and GPCR domains are asymmetrically distributed across stereocilia rows and temporally uncoupled—the ectodomain disappears by P12 while the GPCR domain persists—supporting a transition from structural scaffolding to post-scaffolding signaling.

    Evidence STED nanoscopy with domain-specific antibodies in postnatal mouse cochlea at multiple time points

    PMID:40836926

    Open questions at the time
    • Functional consequence of retained GPCR domain after ectodomain loss not tested
    • Whether GPS cleavage produces the observed temporal pattern not verified
  14. 2026 Medium

    Discovery that ADGRV1 controls glutamate uptake and glutamate–glutamine cycle enzyme expression in hippocampal astrocytes expanded its function to CNS neurotransmitter homeostasis.

    Evidence Affinity proteomics, transcriptomics, colorimetric glutamate uptake assay and live-cell glutamate reporter in Adgrv1-KO astrocytes and USH2C patient cells

    PMID:42002803

    Open questions at the time
    • Signaling pathway connecting ADGRV1 to glutamate transporter regulation not identified
    • Whether glutamate homeostasis defect contributes to seizure susceptibility not tested

Open questions

Synthesis pass · forward-looking unresolved questions
  • The endogenous ligand or mechanical stimulus that activates ADGRV1 signaling in any tissue remains unknown, and it is unresolved whether the Gαi pathway demonstrated in heterologous cells operates at focal adhesions, MAMs, or cilia in vivo.
  • No endogenous ligand identified
  • In vivo Gαi coupling in native tissues not demonstrated
  • How ADGRV1 integrates its multiple subcellular signaling pools is uncharacterized

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0098772 molecular function regulator activity 3 GO:0060089 molecular transducer activity 2 GO:0098631 cell adhesion mediator activity 2
Localization
GO:0005929 cilium 5 GO:0005856 cytoskeleton 4 GO:0005886 plasma membrane 3 GO:0005739 mitochondrion 1 GO:0005783 endoplasmic reticulum 1
Pathway
R-HSA-9709957 Sensory Perception 4 R-HSA-1500931 Cell-Cell communication 3 R-HSA-162582 Signal Transduction 3 R-HSA-112316 Neuronal System 2 R-HSA-1852241 Organelle biogenesis and maintenance 2 R-HSA-392499 Metabolism of proteins 1
Partners
BBS6CCT2CIB2PDZD7SNAP25USH2AWDSUB1WHRN
Complex memberships
USH2 complex (usherin/USH2A, whirlin/WHRN, PDZD7, ADGRV1)

Evidence

Reading pass · 19 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2006 VLGR1 protein is localized to ankle links at the base of developing stereocilia in cochlear hair bundles; targeted deletion of the transmembrane and cytoplasmic domains (Vlgr1/del7TM) abolishes ankle link formation, causes stereocilia disorganization, impairs mechanotransduction (FM1-43 loading and whole-cell recordings), and results in severe deafness. Targeted mouse knockout, immunofluorescence/mass spectrometry identification of ankle link antigen, FM1-43 dye loading, whole-cell electrophysiology, auditory brainstem recordings The Journal of neuroscience High 16775142
2006 Whirlin (DFNB31) directly associates with VLGR1b via PDZ domain interactions; whirlin, USH2A isoform b, and VLGR1b co-localize at the synaptic regions of photoreceptor and outer hair cells, the connecting cilium, and the outer limiting membrane, placing whirlin in the Usher protein interactome as a PDZ scaffold. Direct binding assays, co-immunoprecipitation, immunohistochemistry, co-localization confocal microscopy Human molecular genetics High 16434480
2014 VLGR1 undergoes autocleavage at its GPCR proteolytic site (GPS) into two fragments; the cleaved β-subunit constitutively inhibits adenylate cyclase via Gαi coupling, an R6002A mutation in intracellular loop 2 abolishes Gαi coupling, and PDZD7 overexpression reduces AC inhibition by the VLGR1 β-subunit but not by the pathogenic Y6236fsX1 mutant. Heterologous expression, cAMP assay, Gαiq chimera co-expression, mutagenesis, phospholipase C/NFAT reporter assay The Journal of biological chemistry High 24962568
2007 Vlgr1 protein is localized to the base of stereocilia within ~200–400 nm of the apical surface of hair cells (confirmed by immunoelectron microscopy); loss of Vlgr1 causes progressive stereocilia disorganization starting at postnatal day 8 and hearing deficit measurable by ABR and DPOAE. Immunoelectron microscopy, confocal microscopy, ABR, DPOAE, Vlgr1 knockout mice Genes to cells High 17295842
2004 Loss of the transmembrane and cytoplasmic domains of VLGR1 (Vlgr1/del7TM knock-in mice) causes audiogenic seizure susceptibility, demonstrating that the intracellular signaling domain is required to suppress the seizure phenotype. Gene targeting (knock-in producing truncated ectodomain), audiogenic seizure testing, Western blot Molecular and cellular neurosciences High 15207856
2012 Specific VLGR1 variant(s) are selectively trafficked to the basal pole of auditory hair cells in association with membrane microdomains and SNAP25; co-immunoprecipitation demonstrates a physical interaction between VLGR1 and SNAP25 in organ of Corti and brain, implicating VLGR1 in vesicle docking/fusion at the basolateral domain. Confocal colocalization, sucrose density gradients, vesicle trafficking inhibitors, co-immunoprecipitation The Journal of neuroscience Medium 23035094
2021 VLGR1/ADGRV1 localizes to focal adhesions (FAs) and assembles FA protein complexes in situ; depletion of VLGR1 reduces FA number and length, decreases cell spreading and migration kinetics, and impairs response to mechanical stretch, identifying VLGR1 as a metabotropic mechanosensor in FAs. Affinity proteomics, immunofluorescence co-localization in hTERT-RPE1 cells and Vlgr1 mutant mouse astrocytes, cell spreading and migration assays, mechanical stretch assay, siRNA knockdown iScience High 33851099
2022 VLGR1/ADGRV1 localizes to mitochondria-associated ER membranes (MAMs) and interacts with key MAM proteins (confirmed by pull-down and proximity ligation assays); absence of VLGR1 in mouse tissues alters MAM architecture and dysregulates Ca2+ transients from ER to mitochondria. Affinity proteomics, in vitro pull-down, proximity ligation assay, immunocytochemistry (light and electron microscopy), Ca2+ imaging in VLGR1-deficient models Cells High 36139365
2023 ADGRV1 inhibits WHRN (whirlin) phosphorylation through regional cAMP-PKA signaling; phosphorylation of WHRN regulates USH2A ubiquitination and stability via the E3 ligase WDSUB1 (identified by yeast two-hybrid); the pathogenic Y6236fsX1 mutation disrupts ADGRV1 interactions with ALC components, causes stereocilia disorganization and MET deficits, and fails to suppress WHRN phosphorylation. NMR and FlAsH-BRET provided single-residue resolution of ALC interaction motifs. Adgrv1 Y6236fsX1 knock-in mice, yeast two-hybrid, FlAsH-BRET assay, NMR spectrometry, mutagenesis, ubiquitination assays, ABR/MET recordings Advanced science High 37066759
2022 The two N-terminal PDZ domains of PDZD7 bind the C-terminal PDZ-binding motif (PBM) of ADGRV1 and form a supramodule stabilized upon PBM binding; deafness-causing mutations in PDZD7 PDZ binding grooves reduce stability and PBM-binding affinity, defining the molecular basis by which PDZD7 regulates ADGRV1 GPCR activity in hair cells. NMR, biophysical binding assays, mutagenesis of deafness variants Frontiers in molecular biosciences High 35836927
2023 VLGR1/ADGRV1 interacts with key autophagosome components (identified by affinity proteomics); VLGR1 deficiency in hTERT-RPE1 cells and USH2C patient fibroblasts evokes autophagy as shown by increased LC3 and p62 marker levels, demonstrating a role for VLGR1 in regulating autophagy at internal membranes. Affinity proteomics, whole transcriptome sequencing (Vlgr1/del7TM retina), immunoblotting and immunocytochemistry of LC3/p62 in VLGR1-deficient cells and patient fibroblasts Basic & clinical pharmacology & toxicology Medium 37002809
2023 ADGRV1 and CIB2 (USH1J protein) mutually interact and share a high-degree overlapping interactome; both USH proteins interact with the TRiC/CCT chaperonin complex and BBS chaperonin-like proteins, and co-localize at photoreceptor cilia, implicating ADGRV1 in primary cilia function. Tandem affinity purification + mass spectrometry, co-immunoprecipitation validation, immunohistochemistry on retinal sections Frontiers in cell and developmental biology Medium 37427378
2023 The usherin c.2299delG mutation causes mislocalization of usherin to the photoreceptor inner segment and concomitant mislocalization of VLGR1 (and whirlin), demonstrating that usherin is required for correct localization of VLGR1 within the USH2 protein complex at the connecting cilium. Ush2a c.2299delG knock-in mouse, immunofluorescence, ERG, OCT Nature communications Medium 36810733
2023 VLGR1 regulates de novo focal adhesion assembly: live-cell imaging of paxillin-DsRed2 with nocodazole washout and FRAP experiments show that VLGR1-deficient astrocytes have significantly delayed FA assembly and reduced FA turnover kinetics, without alteration of FA disassembly. Live-cell imaging (paxillin-DsRed2), nocodazole washout assay, FRAP, Vlgr1-deficient astrocytes Basic & clinical pharmacology & toxicology Medium 36929698
2025 ADGRV1 localizes to the base of primary cilia and interacts with TRiC/CCT chaperonins and BBS chaperonin-like proteins; in the absence of TRiC/CCT-BBS complex components, ADGRV1 is depleted from primary cilia and degraded via the proteasome; knockdown of ADGRV1, CCT2/3, or BBS6 each result in reduced ciliated cells and shorter primary cilia. Affinity proteomics, immunofluorescence, siRNA knockdown, proteasome inhibitor rescue, ciliogenesis quantification in cultured cells Frontiers in cell and developmental biology Medium 40103630
2025 Super-resolution STED nanoscopy in juvenile mouse hair cells revealed highly asymmetric subcellular localization of ADGRV1 (extracellular vs. GPCR domains) and PDZD7 across stereocilia rows and between IHC and OHC; the extracellular domain of ADGRV1 disappears after postnatal day 12 while the GPCR domain persists until P21, suggesting a post-scaffolding signaling role. STED super-resolution nanoscopy, immunolabeling with domain-specific antibodies in mouse cochlea iScience Medium 40836926
2026 ADGRV1 controls glutamate homeostasis in hippocampal astrocytes: affinity proteomics identified astrocyte-enriched interactors; ADGRV1-deficient astrocytes show reduced glutamate uptake (colorimetric assay and live cell imaging with genetic glutamate reporter), imbalanced glutamate-glutamine cycle enzyme expression, and reduced astrocyte numbers and altered morphology in Adgrv1-mutant mouse hippocampus. Affinity proteomics, transcriptomics (USH2C patient cells and Adgrv1 KO mouse hippocampus), colorimetric glutamate uptake assay, live-cell glutamate reporter imaging, morphometric analysis Acta neuropathologica communications Medium 42002803
2022 Affinity proteomics of VLGR1/ADGRV1 identified novel binding partners and placed the receptor in functional modules including transcriptional regulation, splicing, cell cycle regulation, ciliogenesis, cell adhesion, neuronal development, and retinal maintenance; selected interactions were validated in vitro and in situ. Tandem affinity purification + mass spectrometry, GO term analysis, in vitro and in situ validation of selected interactions Molecules Medium 35630584
2023 In the adgrv1 CRISPR/Cas9 zebrafish model, absence of Adgrv1 at the photoreceptor connecting cilium leads to reduced levels of usherin and Whrnb at that site, increased aberrant rhodopsin localization in photoreceptor cell bodies, and decreased ERG B-wave amplitude, demonstrating a role for ADGRV1 in USH2 complex integrity and photoreceptor function. CRISPR/Cas9 zebrafish KO (4bp deletion in exon 9), immunohistochemistry, ERG Cells Medium 37371069

Source papers

Stage 0 corpus · 46 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2004 Mutations in the VLGR1 gene implicate G-protein signaling in the pathogenesis of Usher syndrome type II. American journal of human genetics 271 14740321
2006 The very large G-protein-coupled receptor VLGR1: a component of the ankle link complex required for the normal development of auditory hair bundles. The Journal of neuroscience : the official journal of the Society for Neuroscience 172 16775142
2006 The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Human molecular genetics 156 16434480
2004 Loss of the transmembrane and cytoplasmic domains of the very large G-protein-coupled receptor-1 (VLGR1 or Mass1) causes audiogenic seizures in mice. Molecular and cellular neurosciences 66 15207856
2014 Constitutive Gαi coupling activity of very large G protein-coupled receptor 1 (VLGR1) and its regulation by PDZD7 protein. The Journal of biological chemistry 60 24962568
2005 Vlgr1 knockout mice show audiogenic seizure susceptibility. Journal of neurochemistry 52 15606908
2005 Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Investigative ophthalmology & visual science 51 15671307
2007 Vlgr1 is required for proper stereocilia maturation of cochlear hair cells. Genes to cells : devoted to molecular & cellular mechanisms 48 17295842
2017 ADGRV1 is implicated in myoclonic epilepsy. Epilepsia 39 29266188
2021 Adhesion G protein-coupled receptor VLGR1/ADGRV1 regulates cell spreading and migration by mechanosensing at focal adhesions. iScience 34 33851099
2012 The very large G protein coupled receptor (Vlgr1) in hair cells. Journal of molecular neuroscience : MN 25 23180093
2022 The Adhesion GPCR VLGR1/ADGRV1 Regulates the Ca2+ Homeostasis at Mitochondria-Associated ER Membranes. Cells 22 36139365
2018 A Natural Occurring Mouse Model with Adgrv1 Mutation of Usher Syndrome 2C and Characterization of its Recombinant Inbred Strains. Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 22 29961073
2022 ADGRV1 Variants in Febrile Seizures/Epilepsy With Antecedent Febrile Seizures and Their Associations With Audio-Visual Abnormalities. Frontiers in molecular neuroscience 19 35813073
2022 Affinity Proteomics Identifies Interaction Partners and Defines Novel Insights into the Function of the Adhesion GPCR VLGR1/ADGRV1. Molecules (Basel, Switzerland) 18 35630584
2012 Regulated vesicular trafficking of specific PCDH15 and VLGR1 variants in auditory hair cells. The Journal of neuroscience : the official journal of the Society for Neuroscience 18 23035094
2005 Genome-wide linkage of febrile seizures and epilepsy to the FEB4 locus at 5q14.3-q23.1 and no MASS1 mutation. Human genetics 17 16273391
2023 Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology. Cells 15 37371069
2005 Analysis of the very large G-protein coupled receptor gene (Vlgr1/Mass1/USH2C) in zebrafish. Gene 15 15979825
2023 The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1. Nature communications 14 36810733
2020 Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4. Children (Basel, Switzerland) 14 32962041
2019 Genomewide Gene-by-Sex Interaction Scans Identify ADGRV1 for Sex Differences in Opioid Dependent African Americans. Scientific reports 14 31792237
2023 The adhesion G protein-coupled receptor VLGR1/ADGRV1 controls autophagy. Basic & clinical pharmacology & toxicology 13 37002809
2023 Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 13 37066759
2021 Involvement of ADGRV1 Gene in Familial Forms of Genetic Generalized Epilepsy. Frontiers in neurology 13 34744978
2023 Usher syndrome proteins ADGRV1 (USH2C) and CIB2 (USH1J) interact and share a common interactome containing TRiC/CCT-BBS chaperonins. Frontiers in cell and developmental biology 11 37427378
2017 Novel compound heterozygous mutations in the GPR98 (USH2C) gene identified by whole exome sequencing in a Moroccan deaf family. Molecular biology reports 11 28951997
2009 Deficiency of Vlgr1 resulted in deafness and susceptibility to audiogenic seizures while the degree of hearing impairment was not correlated with seizure severity in C57BL/6- and 129-backcrossed lines of Vlgr1 knockout mice. Neuroscience letters 11 19539720
2023 Monitoring paxillin in astrocytes reveals the significance of the adhesion G protein coupled receptor VLGR1/ADGRV1 for focal adhesion assembly. Basic & clinical pharmacology & toxicology 10 36929698
2021 Biallelic ADGRV1 variants are associated with Rolandic epilepsy. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 9 34160719
2017 A novel role for ciliary function in atopy: ADGRV1 and DNAH5 interactions. The Journal of allergy and clinical immunology 9 28927820
2022 Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children. Seizure 7 36399868
2021 Characteristics of Retinitis Pigmentosa Associated with ADGRV1 and Comparison with USH2A in Patients from a Multicentric Usher Syndrome Study Treatrush. International journal of molecular sciences 7 34638692
2018 Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC. Ophthalmic genetics 7 29883260
2022 Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon. Frontiers in genetics 5 35651951
2021 Putative Causal Variant on Vlgr1 for the Epileptic Phenotype in the Model Wistar Audiogenic Rat. Frontiers in neurology 5 34177758
2021 Trigenic ADH5/ALDH2/ADGRV1 mutations in myelodysplasia with Usher syndrome. Heliyon 5 34458631
2025 Genotypic and phenotypic characteristics of ADGRV1 mutations in four children and functional validation in a zebrafish model. Gene 4 39826705
2022 Deciphering the Molecular Interaction Between the Adhesion G Protein-Coupled Receptor ADGRV1 and its PDZ-Containing Regulator PDZD7. Frontiers in molecular biosciences 4 35836927
2025 The BBS/CCT chaperonin complex ensures the localization of the adhesion G protein-coupled receptor ADGRV1 to the base of primary cilia. Frontiers in cell and developmental biology 2 40103630
2023 De novo ADGRV1 variant in a patient with ictal asystole provides novel clues for increased risk of SUDEP. Acta epileptologica 2 40217298
2025 Super-resolution mapping of the ankle link proteins ADGRV1 and PDZD7 in developing auditory hair cells. iScience 1 40836926
2014 A semiconductive superhard FeB₄ phase from first-principles calculations. Physical chemistry chemical physics : PCCP 1 25204967
2026 The adhesion GPCR ADGRV1 controls glutamate homeostasis in hippocampal astrocytes supporting neurons. Acta neuropathologica communications 0 42002803
2025 Novel ADGRV1 pathogenic variant associated to sleep-related hypermotor epilepsy. Epileptic disorders : international epilepsy journal with videotape 0 40673693
2025 Exploring exon excision as a therapeutic intervention strategy for the future treatment of ADGRV1-associated retinitis pigmentosa. Molecular therapy. Nucleic acids 0 41036464