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Showing RIMS1 — RIM1 is a alias.

RIMS1

Regulating synaptic membrane exocytosis protein 1 · UniProt Q86UR5

Length
1692 aa
Mass
189.1 kDa
Annotated
2026-06-10
38 papers in source corpus 17 papers cited in narrative 18 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

RIMS1/RIM1 is a multidomain presynaptic active zone scaffold that couples synaptic vesicle priming to Ca2+ channel positioning and exocytosis (PMID:11343654, PMID:14734538). Through a short N-terminal alpha-helix it binds Rab3-GTP (and additional Rab isoforms, with binding abolished by the R33G mutation), while a separable adjacent zinc finger domain binds Munc13-1 to enhance the ATP-dependent priming of fusion-competent vesicles (PMID:11431472, PMID:11278839, PMID:12578829). RIM1 nucleates the cytomatrix of the active zone by directly binding CAST and bridging it to Munc13-1 and Bassoon, together with Piccolo forming a large CAZ complex required for normal synaptic transmission (PMID:12163476, PMID:14734538). It also organizes the presynaptic Ca2+ entry apparatus: RIM1 binds the CaVβ auxiliary subunit and slows inactivation of voltage-gated Ca2+ channels, and RIM1/2 redundantly set presynaptic Ca2+ channel density and the readily releasable vesicle pool at central and ribbon synapses, including CaV1.4-dependent release from rod photoreceptors (PMID:21402706, PMID:25343783, PMID:26400943). Recruitment and dynamic scaffolding of RIM1 at the active zone require liprin-α2, which promotes liquid-liquid phase separation of RIM1 condensates that concentrate Ca2+ channels and ELKS (PMID:23751498). RIM1 abundance is tuned by the synaptic E3 ubiquitin ligase SCRAPPER, which binds and ubiquitinates it for proteasomal degradation to set release probability (PMID:17803915). Beyond the presynapse, RIM1 also acts postsynaptically, binding Rab11 to drive recycling-endosome-mediated NMDAR membrane insertion required for synaptic responses and memory (PMID:29891949). A C2A-domain mutation (R844H) is associated with CORD7 cone-rod dystrophy and gain-of-function alteration of release, increasing active zone number, readily releasable pool size, and Ca2+ coupling (PMID:35022694, PMID:12659814).

Mechanistic history

Synthesis pass · year-by-year structured walk · 15 steps
  1. 2001 High

    Established that RIM1 functions in vesicle priming through Munc13-1, defining a mechanistic basis for fusion competence at the active zone.

    Evidence Biochemical interaction assays plus neuronal electrophysiology and loss-of-function genetics showing RIM1-Munc13-1 disruption phenocopies Munc13-1 deficiency

    PMID:11343654

    Open questions at the time
    • Did not resolve how priming is spatially coupled to Ca2+ channels
    • Structural basis of the RIM1-Munc13-1 interface not defined
  2. 2001 High

    Resolved that distinct, separable RIM1 modules mediate Rab3-GTP binding versus secretion enhancement, showing vesicle tethering and priming are mechanistically independent.

    Evidence SPR with recombinant proteins, brain-lysate pull-downs, and domain-truncation secretion assays in chromaffin cells; R33G abolishes Rab3 binding

    PMID:11278839 PMID:11431472

    Open questions at the time
    • How Rab3 binding and zinc-finger priming activities are coordinated in vivo not shown
    • Did not address Ca2+-dependence of priming
  3. 2003 High

    Defined the Rab-binding specificity of RIM1 and showed alternative splicing of the Rab-binding helix tunes which Rabs are engaged.

    Evidence Cotransfection binding screen against 42 Rabs with mutagenesis and chimeric analysis

    PMID:12578829

    Open questions at the time
    • Functional consequence of differential Rab engagement at synapses not established
  4. 2002 High

    Showed RIM1 nucleates a CAZ scaffold by directly binding CAST and bridging Munc13-1 and Bassoon, establishing the architectural role of RIM1.

    Evidence Co-IP, direct binding assays, vesicle immunoisolation, and immunolocalization

    PMID:12163476

    Open questions at the time
    • Stoichiometry and higher-order assembly of the complex not resolved
  5. 2004 High

    Demonstrated that the CAST/RIM1/Bassoon ternary complex and the full CAZ assembly are functionally required for transmission, validating the scaffold's necessity.

    Evidence Direct binding assays, Co-IP, and dominant-negative peptide microinjection with electrophysiology

    PMID:14734538

    Open questions at the time
    • Acute peptide perturbation does not separate scaffolding from downstream priming roles
  6. 2007 High

    Identified SCRAPPER-mediated ubiquitination as the mechanism that controls RIM1 abundance and thereby tunes release probability.

    Evidence Co-IP, ubiquitination assay, Scrapper-KO mouse electrophysiology, and bidirectional rescue with re-expression and RNAi

    PMID:17803915

    Open questions at the time
    • Signals regulating SCRAPPER activity not defined
    • Which RIM1 pool is degraded not specified
  7. 2007 Medium

    Provided the first mechanistic link between the CORD7 R844H mutation and altered RIM1 regulation of P/Q- and L-type Ca2+ channels.

    Evidence Heterologous electrophysiology comparing wild-type and mutant RIM1 on CaV2.1 and CaV1.4 currents

    PMID:18690027

    Open questions at the time
    • Single lab, heterologous system only
    • Did not test native photoreceptor synapses
  8. 2008 High

    Showed that RIM1α and RIM1β isoforms have distinct and overlapping roles in synaptic plasticity and survival, clarifying isoform-specific function.

    Evidence Conditional and constitutive knockout mice with electrophysiology and isoform characterization

    PMID:19074017

    Open questions at the time
    • Molecular basis for differential plasticity contributions of each isoform not resolved
  9. 2011 Medium

    Established that RIM1 regulates voltage-gated Ca2+ channel inactivation through the CaVβ subunit, extending its role to Ca2+ influx control including in β-cell insulin secretion.

    Evidence Co-IP, whole-cell patch clamp, siRNA knockdown, and insulin ELISA

    PMID:21331761 PMID:21402706

    Open questions at the time
    • CaV2.2 deinhibition shown only in heterologous cells [#9]
    • Structural basis of CaVβ interaction not defined
  10. 2014 High

    Demonstrated functional redundancy of RIM1 and RIM2 in setting presynaptic Ca2+ channel density and readily releasable pool size, explaining mild single-KO phenotypes.

    Evidence Conditional double-KO mice with direct calyx of Held presynaptic electrophysiology and qPCR

    PMID:25343783

    Open questions at the time
    • Did not isolate RIM1-specific contributions independent of RIM2
  11. 2015 High

    Showed RIM1/2 are required for CaV1.4-dependent Ca2+ entry and release at rod ribbon synapses without affecting channel expression or ribbon structure, separating functional regulation from localization.

    Evidence Conditional double-KO mice with rod voltage-clamp, capacitance measurements, and immunofluorescence

    PMID:26400943

    Open questions at the time
    • Mechanism by which RIM regulates CaV1.4 gating in rods not resolved
  12. 2013 High

    Identified liprin-α2 as the recruiter and dynamic regulator of RIM1 at active zones, linking scaffold turnover to vesicle pool size.

    Evidence FRAP, immunofluorescence, knockdown/overexpression, and electron microscopy in neurons

    PMID:23751498

    Open questions at the time
    • Did not define the structural interface of the liprin-α2/RIM1 interaction
  13. 2018 High

    Revealed an unexpected postsynaptic role for RIM1 in Rab11-dependent NMDAR recycling and membrane insertion required for memory.

    Evidence Localization fractionation, Co-IP for Rab11, shRNA knockdown, electrophysiology, and behavioral assays

    PMID:29891949

    Open questions at the time
    • How the same N-terminus serves both presynaptic Rab3 and postsynaptic Rab11 functions not resolved
    • Selectivity for NMDAR over AMPAR mechanism unclear
  14. 2022 High

    Provided structural and in vivo mechanistic insight into the CORD7 C2A mutation, showing a semi-dominant gain-of-function that enhances release and increases active zone number.

    Evidence CRISPR knock-in in Drosophila, 1.92 Å crystal structure of the C2A domain, voltage-clamp and focal recordings, and STED super-resolution

    PMID:35022694

    Open questions at the time
    • Molecular mechanism by which the C2A mutation alters release kinetics not fully defined
    • Drosophila findings not directly confirmed in mammalian photoreceptors
  15. 2024 High

    Defined the structural basis of the liprin-α2/RIM1 complex and its role in driving phase separation that organizes Ca2+ channel and ELKS distribution at the active zone.

    Evidence X-ray crystallography, CRISPR knock-in, electrophysiology, super-resolution imaging, EGTA-sensitivity, and in vitro phase separation assays (preprint)

    Open questions at the time
    • Preprint, single lab
    • In vitro LLPS relevance to native active zone organization not fully established

Open questions

Synthesis pass · forward-looking unresolved questions
  • How RIM1's distinct presynaptic scaffolding and postsynaptic trafficking functions are partitioned across cell types and isoforms, and the precise mechanism linking the CORD7 mutation to retinal disease, remain open.
  • No structural model integrating Rab3, Munc13, and Ca2+ channel binding in one complex
  • Causal CORD7 mechanism in human retina not directly demonstrated

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0060090 molecular adaptor activity 3 GO:0098772 molecular function regulator activity 3
Localization
GO:0005886 plasma membrane 3 GO:0005829 cytosol 1
Partners
BSNCACNBERC2FBXL20PPFIA2RAB11ARAB3AUNC13A
Complex memberships
cytomatrix of the active zone (CAZ) complex (CAST/RIM1/Munc13-1/Bassoon/Piccolo)

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2001 RIM1 and Munc13-1 interact functionally at the presynaptic active zone; disruption of this interaction causes loss of fusion-competent synaptic vesicles, phenocopying Munc13-1-deficient neurons. RIM1 binding and vesicle priming are mediated by two distinct structural modules of Munc13-1. Biochemical interaction assays, electrophysiology in neurons, loss-of-function genetic analysis Neuron High 11343654
2001 RIM1 binds Rab3-GTP (but not GDP-saturated Rab3) via a short N-terminal alpha-helical sequence (amino acids 19–55); a point mutation R33G abolishes binding. Rab3 isoforms A, C, D are bound with similar affinities (Kd=1–2 µM). The zinc finger domain of Rim1 binds Munc13 but not Rab3. Surface plasmon resonance with recombinant bacterially expressed proteins, pull-down from brain lysate, site-directed mutagenesis The Journal of biological chemistry High 11431472
2001 The Rab3a-GTP binding domain and the secretion-enhancing domain of RIM1 are distinct and separable: a ~30 amino acid sequence immediately N-terminal to the zinc finger constitutes the minimal Rab3a-GTP binding domain, while the zinc finger domain alone enhances secretion without binding Rab3a. N-terminal RIM1 increases the rate of ATP-dependent priming of secretion without altering Ca2+ sensitivity. Domain deletion/truncation analysis, secretion assays in intact and permeabilized adrenal chromaffin cells The Journal of biological chemistry High 11278839
2002 CAST (CAZ-associated structural protein) directly binds RIM1 and indirectly binds Munc13-1 through RIM1, forming a ternary complex at the cytomatrix of the active zone. Bassoon is also associated with this ternary complex. CAST, RIM1, and Bassoon are co-transported on the same vesicles during synapse formation. Co-immunoprecipitation, direct binding assay, immunoisolation of vesicles with antibody-coupled beads, immunolocalization The Journal of cell biology High 12163476
2003 RIM1 interacts with Rab3A/B/C/D, Rab10, Rab26, and Rab37 but not Rab27A/B or Rab8A; alternative splicing of the first alpha-helical region of the RIM1 Rab binding domain alters Rab binding specificity. Cotransfection binding assay with 42 different Rab proteins, site-directed mutagenesis, chimeric protein analysis The Journal of biological chemistry High 12578829
2004 RIM1 and Bassoon directly bind to distinct regions of CAST (C-terminus and central region, respectively), forming a ternary complex. All known CAZ proteins (CAST, RIM1, Munc13-1, Bassoon, Piccolo) form a large molecular complex in brain. Microinjection of RIM1-binding or Bassoon-binding regions of CAST, or the CAST-binding domain of RIM1 or Bassoon, impairs synaptic transmission in cultured neurons. Direct binding assay, co-immunoprecipitation, microinjection of dominant-negative peptides, electrophysiology The Journal of cell biology High 14734538
2007 SCRAPPER, a synapse-localized E3 ubiquitin ligase, directly binds and ubiquitinates RIM1, targeting it for proteasome-mediated degradation. In Scrapper-knockout neurons, RIM1 has a longer half-life and reduced ubiquitination. RIM1 degradation by SCRAPPER is required for synaptic tuning: SCR-KO mice show increased miniature EPSC frequency (phenocopied by RIM1 overexpression and rescued by SCRAPPER re-expression or RIM1 knockdown). Co-immunoprecipitation, ubiquitination assay, knockout mouse electrophysiology, rescue experiments with re-expression and RNAi Cell High 17803915
2008 The RIM1 gene encodes two isoforms from distinct promoters: RIM1α (with an N-terminal Rab3-binding sequence) and RIM1β (lacking that N-terminal sequence). RIM1β is upregulated in RIM1α knockout mice. Deletion of both isoforms severely impairs mouse survival and abolishes presynaptic long-term plasticity, while the RIM1α-only deletion impairment in synaptic strength and short-term plasticity is aggravated by double deletion. Conditional and constitutive knockout mouse generation, electrophysiology, molecular characterization of isoforms The Journal of neuroscience High 19074017
2011 RIM1 interacts with the CaVβ auxiliary subunit of L-type Ca2+ channels (CaV1.2 and CaV1.3) via co-immunoprecipitation. RIM1 decreases the rate of inactivation of L-type CaV channel currents in a CaVβ-dependent manner. Knockdown of endogenous RIM1 increases current inactivation and notably impairs high K+-stimulated insulin secretion in pancreatic β-cells. Co-immunoprecipitation, whole-cell patch clamp, siRNA knockdown, ELISA for insulin secretion The Journal of biological chemistry High 21402706
2011 RIM1 promotes deinhibition of CaV2.2 channels from G-protein-mediated inhibition: Rim1-expressing cells show considerably greater extent of current deinhibition following channel activation upon μ-opioid receptor stimulation, favoring sustained Ca2+ influx under prolonged activity. Whole-cell patch clamp in HEK-293 cells co-expressing CaV2.2 and μ-opioid receptor with or without Rim1 Pflugers Archiv : European journal of physiology Medium 21331761
2013 Liprin-α2 is required for recruitment of RIM1 (and CASK) to presynaptic active zones. Depletion of liprin-α2 reduces turnover of RIM1 at presynaptic terminals as measured by FRAP, suggesting liprin-α2 promotes dynamic scaffolding of RIM1. Liprin-α2 controls synaptic vesicle pool size and synaptic output. Fluorescence recovery after photobleaching (FRAP), immunofluorescence, knockdown/overexpression in neurons, electron microscopy The Journal of cell biology High 23751498
2014 RIM1 and RIM2 redundantly determine presynaptic Ca2+ channel density and readily releasable vesicle pool size at the calyx of Held synapse. Conditional double knockout of RIM1 and RIM2 strongly reduces presynaptic Ca2+ current density and RRP size, whereas single knockouts of each have only subtle or no effect. Conditional knockout mice, direct presynaptic whole-cell electrophysiology at calyx of Held, quantitative PCR Journal of neurophysiology High 25343783
2015 RIM1/2 facilitate Ca2+ entry into rod photoreceptor terminals through Cav1.4 channels, which is required for Ca2+-stimulated vesicle release. Conditional double knockout of RIM1 and RIM2 from rods causes profound reduction in Ca2+ currents and ~4-fold reduction in spontaneous miniature release events and near-complete absence of evoked responses, without altering Cav1.4 protein expression or ribbon morphology. Conditional double knockout mice, whole-cell voltage-clamp recordings from rods, membrane capacitance measurements, immunofluorescence The Journal of neuroscience High 26400943
2007 The CORD7-associated RIM1 R655H mutation (corresponding to human R844H) modifies RIM1's regulation of voltage-dependent Ca2+ channel currents elicited by P/Q-type CaV2.1 and L-type CaV1.4 channels, suggesting altered presynaptic VDCC regulation underlies the CORD7 phenotype. Electrophysiology in heterologous expression system with wild-type vs. mutant RIM1 Channels (Austin, Tex.) Medium 18690027
2018 RIM1 localizes postsynaptically in hippocampal CA1 neurons and facilitates membrane delivery of recycling NMDARs via binding to Rab11 through its N-terminus. Knockdown of RIM1 impairs both constitutive and regulated NMDAR (but not AMPAR) trafficking and membrane insertion of Rab11-positive recycling endosomes. Postsynaptic RIM1 is required for basal NMDAR-mediated synaptic responses and hippocampus-dependent memory. Immunofluorescence/fractionation for localization, Co-IP for Rab11 interaction, shRNA knockdown, electrophysiology, behavioral assays Nature communications High 29891949
2022 The CORD7 mutation (R844H/R915H in fly numbering) in the C2A domain of RIM1 exerts a semi-dominant effect on synaptic transmission, resulting in faster and more efficient synaptic release, increased size of the readily releasable pool, decreased sensitivity to the fast Ca2+ chelator BAPTA, and increased number of presynaptic active zones without perturbing their nanoscopic organization. Crystal structure of the Drosophila RIM C2A domain at 1.92 Å confirmed structural conservation of the mutation site. CRISPR/Cas9 genomic knock-in of CORD7 mutation in Drosophila, X-ray crystallography, two-electrode voltage clamp electrophysiology, focal recordings, super-resolution microscopy (STED) of Bruchpilot/ELKS/CAST Brain : a journal of neurology High 35022694
2003 A G-to-A point mutation in the RIM1 (RIMS1) gene resulting in R844H substitution in the C2A domain was identified in CORD7 autosomal dominant cone-rod dystrophy. RIM1 is expressed in brain and in photoreceptors where it localizes to pre-synaptic ribbons in ribbon synapses. The RIM1 gene spans 577 kb, comprises at least 35 exons, and shows extensive alternative splicing. Mutation analysis by sequencing, segregation analysis, immunolocalization in retina/brain Genomics Medium 12659814
2024 Crystal structure of the liprin-α2/RIM1 complex was determined, revealing multifaceted intermolecular interactions driving liprin-α/RIM assembly. Disrupting this interaction in neurons impairs synaptic transmission and reduces the readily releasable pool. Liprin-α promotes liquid-liquid phase separation (LLPS) of RIM1 at the active zone, and the liprin-α/RIM interaction modulates competitive distribution of ELKS1 and VGCCs in RIM1 condensates; disrupting it decreases VGCC accumulation and increases sensitivity to the slow Ca2+ buffer EGTA. X-ray crystallography, CRISPR/Cas9 knock-in mutations, electrophysiology, super-resolution imaging, EGTA sensitivity assay, in vitro phase separation assay bioRxivpreprint High

Source papers

Stage 0 corpus · 38 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2001 Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming. Neuron 325 11343654
2002 Cast: a novel protein of the cytomatrix at the active zone of synapses that forms a ternary complex with RIM1 and munc13-1. The Journal of cell biology 239 12163476
2007 SCRAPPER-dependent ubiquitination of active zone protein RIM1 regulates synaptic vesicle release. Cell 173 17803915
2001 pH signaling in Sclerotinia sclerotiorum: identification of a pacC/RIM1 homolog. Applied and environmental microbiology 167 11133430
2004 Physical and functional interaction of the active zone proteins, CAST, RIM1, and Bassoon, in neurotransmitter release. The Journal of cell biology 159 14734538
2003 Distinct Rab binding specificity of Rim1, Rim2, rabphilin, and Noc2. Identification of a critical determinant of Rab3A/Rab27A recognition by Rim2. The Journal of biological chemistry 159 12578829
2013 Liprin-α2 promotes the presynaptic recruitment and turnover of RIM1/CASK to facilitate synaptic transmission. The Journal of cell biology 93 23751498
1993 Molecular characterization of the yeast meiotic regulatory gene RIM1. Nucleic acids research 89 8367297
2008 RIM1alpha and RIM1beta are synthesized from distinct promoters of the RIM1 gene to mediate differential but overlapping synaptic functions. The Journal of neuroscience : the official journal of the Society for Neuroscience 82 19074017
2003 Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). Genomics 75 12659814
2007 Functional correlates of fundus autofluorescence abnormalities in patients with RPGR or RIMS1 mutations causing cone or cone rod dystrophy. The British journal of ophthalmology 68 17962389
2009 The NAC transcription factor RIM1 of rice is a new regulator of jasmonate signaling. The Plant journal : for cell and molecular biology 64 20015061
2001 Rim1 and rabphilin-3 bind Rab3-GTP by composite determinants partially related through N-terminal alpha -helix motifs. The Journal of biological chemistry 53 11431472
2005 A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. The British journal of ophthalmology 51 15665353
2015 RIM1/2-Mediated Facilitation of Cav1.4 Channel Opening Is Required for Ca2+-Stimulated Release in Mouse Rod Photoreceptors. The Journal of neuroscience : the official journal of the Society for Neuroscience 46 26400943
2002 RIM1: an edge for presynaptic plasticity. Trends in neurosciences 42 12079752
2012 Physical and functional interaction between yeast Pif1 helicase and Rim1 single-stranded DNA binding protein. Nucleic acids research 39 23175612
2000 Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci. Investigative ophthalmology & visual science 37 10634627
2014 RIM1 and RIM2 redundantly determine Ca2+ channel density and readily releasable pool size at a large hindbrain synapse. Journal of neurophysiology 35 25343783
2011 Functional coupling of Rab3-interacting molecule 1 (RIM1) and L-type Ca2+ channels in insulin release. The Journal of biological chemistry 30 21402706
2001 Rab3a binding and secretion-enhancing domains in Rim1 are separate and unique. Studies in adrenal chromaffin cells. The Journal of biological chemistry 30 11278839
2018 Postsynaptic RIM1 modulates synaptic function by facilitating membrane delivery of recycling NMDARs in hippocampal neurons. Nature communications 29 29891949
2007 Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels. Channels (Austin, Tex.) 24 18690027
2007 Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation. Journal of medical genetics 23 17237123
2016 Rare genetic variants in SMAP1, B3GAT2, and RIMS1 contribute to pediatric venous thromboembolism. Blood 21 28011674
2011 Rim1 modulates direct G-protein regulation of Ca(v)2.2 channels. Pflugers Archiv : European journal of physiology 21 21331761
2005 Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa. Ophthalmic research 15 15746564
2012 Region-specific deletions of RIM1 reproduce a subset of global RIM1α(-/-) phenotypes. Genes, brain, and behavior 11 22103334
2018 The mitochondrial single-stranded DNA binding protein from S. cerevisiae, Rim1, does not form stable homo-tetramers and binds DNA as a dimer of dimers. Nucleic acids research 10 29931186
2022 The human cognition-enhancing CORD7 mutation increases active zone number and synaptic release. Brain : a journal of neurology 9 35022694
2015 Analysis of Protein-protein Interaction Interface between Yeast Mitochondrial Proteins Rim1 and Pif1 Using Chemical Cross-linking Mass Spectrometry. Journal of proteomics & bioinformatics 8 26807012
2022 Dominant Cone Rod Dystrophy, Previously Assigned to a Missense Variant in RIMS1, Is Fully Explained by Co-Inheritance of a Dominant Allele of PROM1. Investigative ophthalmology & visual science 7 35947379
2016 Retinitis pigmentosa and bilateral cystoid macular oedema in a patient heterozygous for the RIM1 mutation previously associated with cone-rod dystrophy 7. Ophthalmic genetics 7 27176872
1998 Glucose repression on RIM1, a gene encoding a mitochondrial single-stranded DNA-binding protein, in Saccharomyces cerevisiae: a possible regulation at pre-mRNA splicing. Current genetics 6 9871116
2022 A clinical and electrophysiological case study of a child with a novel frame shift mutation in the CACNA1F and missense variation of RIMS1 genes. Documenta ophthalmologica. Advances in ophthalmology 3 35947237
2025 Gene-Environment Interaction of Rims1 and Adolescent Social Isolation on Schizophrenia-Like Behaviors in Mice. Neuroscience bulletin 1 41343153
2025 Mapping the brain cell-specific regulatory architecture of migraine: a single-cell causal framework nominating inhibitory-neuronal BTBD16 and astrocytic RIMS1 as therapeutic targets. The journal of headache and pain 1 41345547
2022 Astrocytic hamartoma in a patient heterozygous for RIM1 mutation associated-retinal dystrophy. Ophthalmic genetics 1 35014575

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