Affinage

PRPF31

U4/U6 small nuclear ribonucleoprotein Prp31 · UniProt Q8WWY3

Length
499 aa
Mass
55.5 kDa
Annotated
2026-06-10
100 papers in source corpus 29 papers cited in narrative 29 extracted findings
Cross-family judge vs UniProt: tie faithfulness: 7/7 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PRPF31 is an essential pre-mRNA splicing factor that drives assembly of the U4/U6·U5 tri-snRNP required for each round of splicing (PMID:11867543, PMID:8604353). Its conserved Nop domain recognizes a composite RNP platform—the 15.5K protein bound to the kink-turn of the U4 (and U4atac) snRNA 5'-stem-loop—and the geometry of a two-base-pair stem II discriminates this binding from box C/D snoRNP proteins, allowing PRPF31 to engage both U4 and U4atac snRNAs (PMID:17412961, PMID:16857676, PMID:21784869). By simultaneously contacting this U4/U6-associated platform and the U5 snRNP protein PRPF6, PRPF31 physically tethers the U4/U6 di-snRNP to U5 to generate the tri-snRNP; loss of PRPF31 blocks tri-snRNP formation and causes U4/U6 di-snRNPs and the recycling factor p110 to accumulate in Cajal bodies, implicating these bodies in tri-snRNP recycling (PMID:11867543, PMID:15257298). K63-linked ubiquitination of PRPF31 by the PRP19 complex, reversed by USP15-SART3, modulates its interaction with PRPF8 and thereby tunes tri-snRNP dynamics and splicing of chromosome-segregation genes (PMID:28088760). Beyond splicing, PRPF31 directly binds spindle microtubules and the Ndc80 kinetochore complex during M phase to support chromosome segregation, a function independent of its splicing role (PMID:30475206); consistent with this, PRPF31 loss causes mitotic arrest and DNA damage in proliferating progenitor populations (PMID:33476374, PMID:38382674). Mutations in PRPF31 cause autosomal dominant retinitis pigmentosa (RP11) through haploinsufficiency: premature-termination alleles are eliminated by nonsense-mediated decay and missense alleles such as A216P destabilize and mislocalize the protein, with disease penetrance set by the transcriptional repressor CNOT3 acting on the PRPF31 promoter (PMID:18317597, PMID:19293337, PMID:23144630). Reduced PRPF31 dosage produces retina-specific pathology—mis-splicing of phototransduction and ciliogenesis genes, RPE ciliary and polarity defects, cytoplasmic protein aggregation, and a PLK4-TFEB-autophagy-mitochondria stress cascade (PMID:30315276, PMID:31654038, PMID:41932639).

Mechanistic history

Synthesis pass · year-by-year structured walk · 29 steps
  1. 1996 High

    Established that the PRPF31 ortholog is an essential, conserved general splicing factor, setting the functional baseline for the human protein.

    Evidence Temperature-sensitive mutants and in vivo/in vitro splicing assays in budding yeast Prp31p, with cloning by complementation

    PMID:8604353

    Open questions at the time
    • Did not define the snRNP step at which Prp31p acts
    • Human protein not yet characterized
  2. 2000 Medium

    Genetic epistasis showed Prp31 functions together with Prp6, foreshadowing the di-snRNP–U5 bridging role.

    Evidence Temperature-sensitive prp31 mutant and synthetic lethality with prp6 in fission yeast, plus splicing analysis

    PMID:10871341

    Open questions at the time
    • Mechanism of the Prp31–Prp6 functional interaction not defined
    • Did not test the human orthologs directly
  3. 2002 High

    Defined the specific molecular step PRPF31 controls—tri-snRNP formation—by showing depletion blocks assembly and recombinant protein restores it, and identified PRPF6 as its U5 contact.

    Evidence Immunodepletion/complementation of HeLa nuclear extracts, two-hybrid, and co-sedimentation

    PMID:11867543

    Open questions at the time
    • Structural basis of RNP and PRPF6 binding not yet resolved
    • In vivo consequence of loss not addressed
  4. 2002 Medium

    First connected RP-causing missense mutations to a cellular defect, showing impaired nuclear import and incomplete splicing function without dominant-negative splicing inhibition.

    Evidence Yeast complementation, human in vivo splicing assay, immunofluorescence and western blot of A194E/A216P

    PMID:12444105

    Open questions at the time
    • Did not resolve whether pathology is haploinsufficiency or toxicity
    • Import defect mechanism unexplained
  5. 2004 High

    Demonstrated in vivo that PRPF31 loss arrests tri-snRNP assembly and traps U4/U6 di-snRNPs in Cajal bodies, implicating these bodies in tri-snRNP recycling.

    Evidence RNAi in HeLa cells with biochemical fractionation and fluorescence microscopy

    PMID:15257298

    Open questions at the time
    • Did not define how Cajal-body localization couples to recycling
    • Recovery kinetics of the tri-snRNP not measured
  6. 2006 High

    Defined the RNA determinant of PRPF31 binding—the U4 kink-turn with a two-base-pair stem II—explaining specificity against snoRNP proteins.

    Evidence Hydroxyl-radical footprinting and EMSA with systematic U4 snRNA mutants

    PMID:16857676

    Open questions at the time
    • Did not resolve atomic contacts (later by crystallography)
    • Protein-binding surface not mapped here
  7. 2006 Medium

    Identified importin beta1 as the nuclear-import receptor for PRPF31 and showed RP mutations do not impair this interaction, narrowing the basis of mutant mislocalization.

    Evidence GST pull-down with importins and FRAP of EGFP-PRPF31 in live cells

    PMID:16427773

    Open questions at the time
    • Reconciliation with earlier reported import defect of mutants unresolved
    • Two-component entry kinetics not mechanistically explained
  8. 2007 High

    Provided the structural mechanism: the Nop domain is a bona fide RNP-binding module recognizing the 15.5K–U4 platform, and RP mutations act by perturbing the PRPF31–PRPF6 interaction that builds the tri-snRNP.

    Evidence Crystal structure of hPrp31–15.5K–U4 snRNA with binding assays and yeast two-hybrid

    PMID:17412961

    Open questions at the time
    • Did not capture the full tri-snRNP assembly intermediate
    • Functional consequence in retina not tested
  9. 2005 Medium

    Linked PRPF31 dysfunction to photoreceptor biology by showing mutant protein impairs splicing of retinal transcripts and triggers apoptosis of rhodopsin-positive cells.

    Evidence Immunoprecipitation of splicing complexes, minigene assays, and primary retinal cultures with mutant PRPF31

    PMID:15659613

    Open questions at the time
    • Did not separate direct splicing inhibition from protein insufficiency
    • Mechanism of retina specificity unaddressed
  10. 2007 Medium

    Extended the retinal target set, identifying RDS/peripherin and FSCN2 transcripts whose splicing is sensitive to mutant PRPF31.

    Evidence IP-coupled microarray and minigene splicing assays in retinal cells

    PMID:17350276

    Open questions at the time
    • Direct binding versus complex co-purification not distinguished
    • Quantitative dosage dependence not established
  11. 2008 High

    Resolved the disease mechanism as haploinsufficiency by showing PTC alleles are degraded by NMD with no rescued truncated protein, excluding dominant-negative gain-of-function.

    Evidence Allele-specific RT-PCR, NMD and proteasome inhibition, western blot across patient cell lines

    PMID:18317597

    Open questions at the time
    • Did not explain why only the retina degenerates
    • Missense alleles handled in separate studies
  12. 2008 Medium

    Showed the A216P missense allele destabilizes the protein, reduces snRNP association, and is rescued by excess PRPF6, supporting an insufficiency mechanism for missense mutations.

    Evidence Co-IP with snRNPs, stability and proliferation assays, Cajal-body imaging, hPrp6 overexpression rescue

    PMID:19293337

    Open questions at the time
    • Relative contribution of insufficiency versus mutant cytotoxicity not quantified
    • Single lab
  13. 2008 Medium

    Showed that A216P paradoxically binds PRPF6 more tightly while reducing minigene splicing, refining the view that RP11 missense mutations act mainly through insufficiency/insolubility.

    Evidence In vivo minigene splicing assay and GST pull-down between PRPF31 and PRPF6

    PMID:18431455

    Open questions at the time
    • Stronger PRPF6 binding not mechanistically reconciled with reduced function
    • Effect on full tri-snRNP not measured
  14. 2011 High

    Resolved the dual snRNA specificity by showing distinct pentaloop conformations of U4 versus U4atac and a His270 stacking contact stabilizing the complex.

    Evidence Crystal structures of ternary hPrp31–15.5K–snRNA complexes with gel-shift and rational mutagenesis

    PMID:21784869

    Open questions at the time
    • Functional consequence for minor-spliceosome splicing not tested in cells
  15. 2011 Medium

    Identified CTNNBL1 as an NLS-binding partner with selectivity distinct from karyopherin-alpha, hinting at a dedicated intranuclear targeting route.

    Evidence Co-IP and pulldown mapping NLS-dependent binding

    PMID:21385873

    Open questions at the time
    • Functional role of the interaction not established
    • No in vivo validation
  16. 2012 High

    Explained variable penetrance of PRPF31 mutations by identifying CNOT3 as a direct transcriptional repressor whose expression sets residual wild-type PRPF31 dosage.

    Evidence siRNA knockdown, ChIP at the PRPF31 promoter, qRT-PCR/western, and sequencing of CNOT3

    PMID:23144630

    Open questions at the time
    • Did not identify the trans/cis variants controlling CNOT3 levels in patients
    • Tissue-specific regulation not addressed
  17. 2016 Medium

    Implicated PRPF31 in HBV cccDNA formation, indicating a function beyond the spliceosome.

    Evidence siRNA knockdown with rescue, ChIP, and Co-IP linking PRPF31 to cccDNA and HBx

    PMID:27864147

    Open questions at the time
    • Direct versus indirect role in cccDNA biogenesis not resolved
    • No structural basis for cccDNA association
  18. 2017 High

    Revealed a regulatory layer: K63-ubiquitination of PRPF31 by the PRP19 complex, reversed by USP15-SART3, controls PRPF31–PRPF8 interaction and splicing of chromosome-segregation genes.

    Evidence Reciprocal Co-IP, ubiquitin-linkage typing, siRNA, in vitro splicing, and mass spectrometry

    PMID:28088760

    Open questions at the time
    • Ubiquitination site(s) on PRPF31 not mapped
    • How modification status is signaled remains unknown
  19. 2018 High

    Established a splicing-independent, direct mitotic function: PRPF31 binds spindle microtubules and the Ndc80 complex during M phase, with rapid antibody-injection effects ruling out a splicing mechanism.

    Evidence Antibody microinjection in Drosophila embryos, HeLa RNAi, Co-IP with Ndc80, microtubule-binding and imaging

    PMID:30475206

    Open questions at the time
    • Structural basis of microtubule/Ndc80 binding unresolved
    • Relationship to splicing pool of PRPF31 not defined
  20. 2018 High

    Modeled RP11 in human retinal organoids/RPE, showing disrupted splicing of splicing and ciliogenesis genes plus RPE polarity, barrier, phagocytosis, and ciliary defects, with CRISPR correction rescuing phenotypes.

    Evidence Patient iPSC-derived retinal organoids and RPE, transcriptomics, Prpf31+/- mouse retina, CRISPR/Cas9 correction

    PMID:30315276

    Open questions at the time
    • Causal chain from mis-splicing to ciliary defect not fully traced
    • Retina-restriction still unexplained
  21. 2019 Medium

    Defined the retinal mis-splicing program upon PRPF31 reduction, including phototransduction and RNA-processing genes.

    Evidence RNAi in human organotypic retinal cultures with RNA-seq for differential exon usage and intron retention

    PMID:31654038

    Open questions at the time
    • Which mis-spliced events are causal for degeneration not isolated
    • Single model system
  22. 2019 Medium

    Identified protein aggregation as a downstream consequence, showing mutant PRPF31 forms cytoplasmic aggregates that sequester wild-type protein and induce an HSP70 chaperone response.

    Evidence Prpf31-A216P mouse RPE, solubility fractionation, in vitro overexpression, and western blot

    PMID:31892304

    Open questions at the time
    • Whether aggregation is cause or consequence of degeneration unclear
    • Hspa4l rescue not functionally tested in vivo
  23. 2021 High

    In zebrafish, showed PRPF31 loss arrests retinal progenitors in mitosis with DNA damage and preferential skipping of weak-5'-splice-site exons, with WT but not mutant human PRPF31 rescuing.

    Evidence prpf31 knockout zebrafish, transcriptome-wide splicing, cell-cycle/DNA-damage assays, human rescue

    PMID:33476374

    Open questions at the time
    • Link between splicing changes and mitotic arrest not mechanistically closed
    • Relation to the direct kinetochore role not tested
  24. 2022 Medium

    Connected reduced PRPF31 dosage in patient RPE/organoids to tri-snRNP assembly defects, aggregation of mutant PRPF31 and ubiquitinated proteins, and autophagy-dependent survival.

    Evidence iPSC-derived RPE/organoids, proteomics, Cajal-body/speckle imaging, spliceosome assays, rapamycin treatment

    PMID:35297555

    Open questions at the time
    • Direction of causality between aggregation and autophagy unresolved
    • Single lab
  25. 2022 Low

    Reported a PRPF31–PRPH2 physical interaction in retinal cells, a candidate non-splicing link to photoreceptor structural proteins.

    Evidence Co-IP and immunofluorescence co-localization in HEK293T, ARPE-19, and mouse retina

    PMID:36088804

    Open questions at the time
    • Single Co-IP/co-localization without reciprocal or functional validation
    • Biological significance undefined
  26. 2023 Low

    Proposed that the Usher protein SANS binds PRPF31 (and PRPF6) and that pathogenic SANS variants perturb these contacts, suggesting cross-talk between Usher and splicing machinery.

    Evidence FRET in cells, deep-learning structure prediction, and domain mapping

    PMID:38139438

    Open questions at the time
    • No reconstitution or experimental structure; relies on in silico prediction
    • Functional consequence for splicing not tested
  27. 2024 Medium

    Generalized the proliferation requirement beyond the retina, showing PRPF31 loss causes M-phase arrest and mis-splicing of mitotic genes in zebrafish hematopoietic progenitors.

    Evidence prpf31 knockout zebrafish, immunofluorescence, splicing transcriptomics, flow cytometry

    PMID:38382674

    Open questions at the time
    • Tissue specificity of human disease still unexplained
    • Splicing-versus-kinetochore contribution not separated
  28. 2025 Medium

    Defined a PRPF31–FSCN2 axis for photoreceptor ciliogenesis, with FSCN2 overexpression partially rescuing cilia defects from PRPF31 loss.

    Evidence RNAi, RNA immunoprecipitation, FSCN2 rescue, and cilia quantification in 661W cells

    PMID:41265626

    Open questions at the time
    • Whether the effect is via splicing or RNA binding not fully resolved
    • In vivo validation lacking
  29. 2026 Medium

    Identified a downstream stress cascade in which PRPF31 deficiency lowers PLK4, de-represses TFEB, hyperactivates autophagy, and produces mitochondrial dysfunction.

    Evidence Multi-model cell/animal study with localization, autophagy, mitochondrial, and reporter assays

    PMID:41932639

    Open questions at the time
    • Link from splicing defect to PLK4 downregulation not defined
    • Causal ordering versus aggregation pathway unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • Why a ubiquitously required spliceosomal and mitotic protein produces retina-restricted degeneration, and how its splicing-dependent and direct kinetochore functions are partitioned, remain unresolved.
  • No mechanism explaining tissue specificity of RP11 despite ubiquitous expression
  • Splicing pool versus spindle/kinetochore pool of PRPF31 not biochemically separated
  • Causal hierarchy among mis-splicing, aggregation, autophagy, and mitochondrial defects undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003723 RNA binding 4 GO:0140098 catalytic activity, acting on RNA 3 GO:0060090 molecular adaptor activity 2 GO:0003677 DNA binding 1 GO:0008092 cytoskeletal protein binding 1
Localization
GO:0005634 nucleus 3 GO:0005654 nucleoplasm 2 GO:0005829 cytosol 2 GO:0005730 nucleolus 1 GO:0005856 cytoskeleton 1
Pathway
R-HSA-1640170 Cell Cycle 4 R-HSA-8953854 Metabolism of RNA 4 R-HSA-9612973 Autophagy 2 R-HSA-74160 Gene expression (Transcription) 1
Partners
CTNNBL1NDC80PRPF19PRPF6PRPF8SART3SNU13USP15
Complex memberships
Ndc80 kinetochore complexU4/U6 di-snRNPU4/U6·U5 tri-snRNP

Evidence

Reading pass · 29 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2002 PRPF31 (61K protein) is required for U4/U6·U5 tri-snRNP formation and subsequent spliceosome assembly and pre-mRNA splicing. Immunodepletion of 61K from HeLa nuclear extracts inhibits tri-snRNP formation; complementation with recombinant 61K restores all steps. 61K is operationally U4/U6 snRNP-specific but also interacts with the U5 snRNP-associated 102K protein (PRPF6), physically tethering U4/U6 to U5 to yield the tri-snRNP. Immunodepletion from HeLa nuclear extracts, recombinant protein complementation, two-hybrid analysis, biochemical co-sedimentation assays The EMBO journal High 11867543
2007 The conserved Nop domain of hPrp31 is a genuine RNP-binding module that recognizes a composite RNA-protein platform consisting of the 15.5K protein bound to U4 snRNA. The Nop domain exhibits both RNA and protein binding surfaces, and binding specificity is maintained despite relaxed RNA sequence requirements. Yeast two-hybrid analyses linked RP-causing mutations to an aberrant hPrp31–hPrp6 interaction that blocks U4/U6·U5 tri-snRNP formation. Crystal structure analysis of hPrp31–15.5K–U4 snRNA complex, biochemical binding assays, yeast two-hybrid Science (New York, N.Y.) High 17412961
2004 RNAi knockdown of hPrp31 (61K) in HeLa cells inhibits tri-snRNP formation in vivo, causing accumulation of stable U4/U6 di-snRNPs and U5 mono-snRNPs. In the absence of hPrp31, U4/U6 di-snRNPs and the recycling factor p110 accumulate in Cajal bodies, while U5 snRNPs remain in nucleoplasmic speckles, supporting a role for Cajal bodies in tri-snRNP recycling. RNAi in HeLa cells, biochemical fractionation, fluorescence microscopy The EMBO journal High 15257298
2006 hPrp31 binding to U4 snRNP requires the kink-turn structure (stem I and two-base-pair stem II) of the U4 5'-stem-loop pre-bound with 15.5K protein. Stem I could not be shortened and introduction of a third Watson-Crick base pair into stem II significantly reduced hPrp31 binding. The two-base-pair stem II of U4/U4atac snRNAs discriminates hPrp31 binding from NOP56/NOP58 binding to box C/D snoRNAs (which require a three-base-pair stem II). Hydroxyl radical footprinting, electrophoretic mobility shift assay (EMSA) with systematic U4 snRNA mutants, in vitro binding assays The Journal of biological chemistry High 16857676
2011 Crystal structure analysis shows that the capping pentaloops of U4 and U4atac 5'-stem-loops adopt different conformations in ternary hPrp31–15.5K–snRNA complexes. In U4atac snRNA, a noncanonical base pair forms across the pentaloop enabling more intimate contacts with hPrp31; stacking of hPrp31-His270 on this base pair stabilizes the complex. Rational mutagenesis confirmed these interactions, explaining how hPrp31 achieves dual specificity for both U4 and U4atac snRNAs. Crystal structure analysis, gel-shift assays, rational mutagenesis RNA (New York, N.Y.) High 21784869
2002 Two RP11-linked missense mutations (A194E and A216P) in PRPF31 substantially hinder translocation of the protein into the nucleus when expressed in mammalian cells, as shown by western analysis and immunofluorescence. The A216P mutation introduced into yeast PRP31p only partially rescues growth at the restrictive temperature, indicating incomplete splicing function. No dominant-negative effect on splicing was detected in a human cell in vivo splicing assay. Yeast complementation assay, in vivo splicing assay in human cells, western blot, immunofluorescence microscopy Human molecular genetics Medium 12444105
2005 Mutant PRPF31 proteins significantly inhibit pre-mRNA splicing of rhodopsin (RHO) intron 3 in retinal cells, as demonstrated by immunoprecipitation of PRPF31-containing splicing complexes that co-purify RHO transcripts. Expression of mutant PRPF31 in primary retinal cultures reduces rhodopsin expression and causes apoptosis of rhodopsin-positive retinal cells. Immunoprecipitation of splicing complexes, minigene splicing assay, primary retinal cell culture with mutant PRPF31 expression, immunofluorescence The Journal of neuroscience Medium 15659613
2007 Immunoprecipitation-coupled microarray analysis identified peripherin/RDS and FSCN2 transcripts as being associated with PRPF31-containing splicing complexes in retinal cells. Minigene assays demonstrated that mutant PRPF31 significantly inhibits pre-mRNA splicing of RDS and FSCN2, linking ubiquitous splicing factor dysfunction to photoreceptor-specific gene expression defects. Immunoprecipitation-coupled microarray (IP-chip), minigene splicing assays Neurobiology of disease Medium 17350276
2008 Most PRPF31 mutations introducing premature termination codons result in null alleles through nonsense-mediated mRNA decay (NMD). Allele-specific measurement confirmed strong reduction of mutant transcripts; blocking NMD restored mutant mRNA but did not restore truncated protein synthesis even with proteasome inhibitors, indicating the pathogenic mechanism is haploinsufficiency rather than dominant-negative gain-of-function. Allele-specific RT-PCR, NMD inhibition, western blot, protein degradation pathway inhibitors The Journal of clinical investigation High 18317597
2006 PRPF31 is imported into the nucleus via interaction with importin beta1, with no requirement for importin alpha1, as shown by GST pull-down assays. The disease-linked mutations A194E and A216P do not affect this importin beta1 interaction. FRAP of EGFP-tagged PRPF31 revealed a two-component nuclear entry process (fast tau ~6 s, slow tau ~80 s), unchanged by the mutations. GST pull-down with importin proteins, fluorescence recovery after photobleaching (FRAP) in live cells Biochimica et biophysica acta Medium 16427773
2008 The A216P (AD29) missense mutation in hPrp31 destabilizes the protein structure, leading to rapid degradation and significantly reduced association with U4 and U5 snRNPs in the cell nucleus. Overexpression of hPrp6 (a binding partner) reverses the effects of AD29 on cell proliferation and Cajal body structure. The mutation's pathology involves both insufficiency of functional hPrp31 and potential cytotoxicity from the unstable mutant. Co-immunoprecipitation with snRNPs, protein stability assays, cell proliferation assay, fluorescence microscopy of Cajal bodies, hPrp6 rescue overexpression Human molecular genetics Medium 19293337
2008 The A216P mutation in PRPF31 directly reduces splicing efficiency of RHO minigene intron 3 in an in vivo mammalian cell assay, and pull-down assays show that the mutant PRPF31 has a stronger interaction with PRPF6 than wild-type, suggesting a mechanism for splicing inhibition. Splicing of full-length RHO transcript is 100% efficient, indicating RP11 missense mutations act mainly through protein insufficiency/insolubility with a minor direct splicing effect. In vivo minigene splicing assay in transfected mammalian cells, GST pull-down assay between PRPF31 and PRPF6 Molecular vision Medium 18431455
2011 CTNNBL1, an armadillo-motif nuclear protein, interacts with PRPF31 through the nuclear localization sequence (NLS) of PRPF31. CTNNBL1 binds NLSs via its ARM domain, exhibiting selectivity distinct from karyopherin-alpha, suggesting a possible role in selective intranuclear targeting or interactions of splicing-associated complexes. Co-immunoprecipitation, pulldown assays, identification of NLS-binding specificity The Journal of biological chemistry Medium 21385873
2012 CNOT3, a subunit of the Ccr4-NOT transcription complex, acts as a transcriptional repressor of PRPF31. siRNA-mediated silencing of CNOT3 increases PRPF31 expression; chromatin immunoprecipitation showed CNOT3 directly binds the PRPF31 promoter. CNOT3 is the major modifier gene determining penetrance of PRPF31 mutations, and its variable expression correlates inversely with PRPF31 levels. siRNA knockdown of CNOT3, chromatin immunoprecipitation (ChIP), quantitative RT-PCR, western blot, next-generation sequencing of CNOT3 genomic region PLoS genetics High 23144630
2017 PRP31 is ubiquitinated with K63-linked chains by the PRP19 complex and deubiquitinated by USP15 together with its substrate-targeting factor SART3. The USP15-SART3 complex also forms a ternary complex with USP4 to deubiquitinate PRP3. The ubiquitination/deubiquitination status of PRP31 regulates its interaction with U5 snRNP component PRP8, which is required for efficient splicing of chromosome-segregation genes, likely by stabilizing the U4/U6·U5 tri-snRNP complex. Co-immunoprecipitation, ubiquitin linkage analysis, siRNA knockdown, in vitro splicing assays, mass spectrometry Nucleic acids research High 28088760
2018 Prp31 and Sf3A2 directly bind spindle microtubules and the Ndc80 kinetochore complex in both Drosophila and human cells, with the Ndc80/HEC1-SF interaction restricted to M phase. Antibody injection into Drosophila embryos disrupts mitotic division within 1 minute, demonstrating a direct (non-splicing-mediated) role in chromosome segregation. In cells depleted of Prp31, the Ndc80 complex is not tightly associated with kinetochores. Anti-Prp31 antibody microinjection into Drosophila embryos, RNAi depletion in HeLa cells, co-immunoprecipitation with Ndc80 complex, microtubule binding assays, immunofluorescence eLife High 30475206
2018 In PRPF31-mutated patient-derived retinal organoids and RPE cells, disrupted alternative splicing occurs for specific splicing programs including genes encoding pre-mRNA splicing proteins and genes implicated in ciliogenesis and cellular adhesion. RPE defects include disrupted apical-basal polarity, reduced trans-epithelial resistance, reduced phagocytic capacity, and decreased cilia length and incidence. In situ CRISPR/Cas9 correction of the pathogenic mutation rescued protein expression and key cellular phenotypes. Patient iPSC-derived retinal organoids and RPE, transcriptome profiling, Prpf31+/- mouse retina analysis, CRISPR/Cas9 correction with phenotypic rescue Nature communications High 30315276
2019 Mutant PRPF31 protein forms cytoplasmic aggregates in the RPE of a Prpf31-A216P mouse model, reducing nuclear protein levels. Wild-type PRPF31 is recruited into insoluble aggregates when mutant protein is overexpressed in vitro. In response to aggregation, Hspa4l (HSP70 family member) is overexpressed, which may facilitate correct folding and nuclear translocation of mutant protein. Mouse model analysis (Prpf31-A216P/+), immunofluorescence, protein solubility fractionation, in vitro overexpression, western blot Molecular medicine (Cambridge, Mass.) Medium 31892304
2021 In prpf31 knockout zebrafish, retinal progenitor cell (RPC) differentiation and viability are severely disrupted at early embryonic stages. Mitotic arrest and DNA damage occur specifically in RPCs. Prpf31 deletion predominantly causes skipping of exons with weak 5' splice sites. Differentially spliced genes are enriched for DNA repair and mitotic progression functions. Wild-type human PRPF31 but not disease-associated mutants rescues the zebrafish phenotype. prpf31 knockout zebrafish, transcriptome-wide splicing analysis, cell cycle and DNA damage assays, human PRPF31 rescue expression Nucleic acids research High 33476374
2022 In PRPF31-mutated patient iPSC-derived RPE and retinal organoid cells, mutant PRPF31 is not incorporated into splicing complexes. Reduced PRPF31 wild-type levels cause tri-snRNP assembly defects in Cajal bodies, altered nuclear speckle morphology, and reduced active spliceosome formation. Progressive cytoplasmic aggregates containing mutant PRPF31 and ubiquitin-conjugated proteins accumulate. Activation of autophagy with rapamycin reduces cytoplasmic aggregates and improves cell survival. iPSC-derived RPE and retinal organoids, quantitative proteomics, immunofluorescence of Cajal bodies/nuclear speckles, spliceosome assembly assays, rapamycin treatment Clinical and translational medicine Medium 35297555
2019 PRPF31 reduction causes mis-splicing of phototransduction genes (RHO, ROM1, FSCN2, GNAT2, GNAT1) and RNA processing genes (PRPF3, PRPF8, PRPF4, PRPF19) in human organotypic retinal cultures. The splicing defects were identified by RNA-seq analysis of differential exon usage and intron retention after RNAi-mediated knockdown of PRPF31. RNAi knockdown in human organotypic retinal cultures, RNA-seq with differential exon usage and intron retention analysis European journal of human genetics Medium 31654038
2016 PRPF31 is involved in HBV covalently closed circular DNA (cccDNA) production. PRPF31 knockdown by siRNA decreased cccDNA formation, and expression of siRNA-resistant PRPF31 rescued cccDNA formation. Chromatin immunoprecipitation and co-immunoprecipitation revealed association between PRPF31 and cccDNA, and co-overexpression of PRPF31 and HBx enhanced cccDNA formation. siRNA knockdown, rescue overexpression, chromatin immunoprecipitation, co-immunoprecipitation Biochemical and biophysical research communications Medium 27864147
2022 PRPF31 interacts with PRPH2 (peripherin-2) as shown by co-immunoprecipitation and co-localization in HEK293T, ARPE-19 cells, and mouse retina. PRPF31 could be pulled down with an anti-PRPH2 antibody. Co-immunoprecipitation, immunofluorescence co-localization Biochemical and biophysical research communications Low 36088804
2023 The USH1G protein SANS directly binds PRPF31 via two distinct conserved regions of its CENTn domain, as shown by FRET assays and in silico structural predictions. Pathogenic USH1G/SANS variants perturb binding to PRPF31 and PRPF6, and a conformational change in an intrinsically disordered region of SANS CENTn2 to a short alpha-helix is triggered by PRPF6 binding, suggesting sequential interactions. Fluorescence resonance energy transfer (FRET) in cells, deep learning-based protein structure prediction, domain mapping International journal of molecular sciences Low 38139438
2025 PRPF31 deficiency in 661W photoreceptor-like cells downregulates FSCN2 expression and reduces cilia number (as measured by IFT88 and ARL13B markers). RNA immunoprecipitation showed PRPF31-FSCN2 interaction. Overexpression of FSCN2 partially rescued the ciliary defects caused by PRPF31 knockdown, identifying a PRPF31–FSCN2 regulatory axis for photoreceptor ciliogenesis. RNAi knockdown, RNA immunoprecipitation (RIP), FSCN2 rescue overexpression, cilia quantification, RT-qPCR, western blot Experimental eye research Medium 41265626
2024 PRPF31 deficiency in zebrafish causes severe defects in hematopoietic stem and progenitor cell (HSPC) expansion. Prpf31-deficient HSPCs undergo malformed mitosis and M-phase arrest during expansion. Transcriptome analysis revealed extensive perturbation of alternative splicing of mitosis-related genes, mechanistically linking PRPF31 splicing function to HSPC proliferation. prpf31 knockout zebrafish, immunofluorescence, transcriptome/splicing analysis, flow cytometry of hematopoietic lineages The Journal of biological chemistry Medium 38382674
1996 Yeast Prp31p (ortholog of human PRPF31) is essential for cell viability and required for pre-mRNA splicing both in vivo and in vitro, as shown by temperature-sensitive mutant analysis and direct splicing assays. The wild-type PRP31 gene was cloned by complementation; epitope-tagged Prp31p is functional in vivo. Temperature-sensitive mutant characterization, in vivo and in vitro splicing assays, gene cloning by complementation, western blot Nucleic acids research High 8604353
2000 Fission yeast prp31+ is essential for vegetative growth and meiotic progression, and is synthetically lethal with prp6. Temperature-sensitive prp31-E1 cells display a pre-mRNA splicing defect at the restrictive temperature, confirming Prp31 as a general splicing factor required in both mitotic and meiotic contexts. Temperature-sensitive mutant, synthetic lethality with prp6, in vivo splicing analysis, gene cloning by complementation Nucleic acids research Medium 10871341
2026 PRPF31 deficiency downregulates polo-like kinase 4 (PLK4), relieving its inhibition of transcription factor EB (TFEB). This triggers TFEB nuclear translocation and transcriptional upregulation of autophagy/lysosomal genes, driving autophagic hyperactivation. The resulting autophagic hyperactivation causes mitochondrial dysfunction (structural abnormalities, respiratory deficits, ATP deficiency, ROS accumulation), establishing a PLK4-TFEB-autophagy-mitochondria pathogenic axis. Multi-model approach (cell lines, animal models), protein localization, autophagy assays, mitochondrial function assays, transcriptional reporter assays Experimental eye research Medium 41932639

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2001 A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). Molecular cell 270 11545739
2018 Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosa. Nature communications 182 30315276
2002 Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6*U5 tri-snRNP formation and pre-mRNA splicing. The EMBO journal 144 11867543
2004 RNAi knockdown of hPrp31 leads to an accumulation of U4/U6 di-snRNPs in Cajal bodies. The EMBO journal 132 15257298
2007 Binding of the human Prp31 Nop domain to a composite RNA-protein platform in U4 snRNP. Science (New York, N.Y.) 122 17412961
2012 CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance. PLoS genetics 110 23144630
2003 Expression of PRPF31 mRNA in patients with autosomal dominant retinitis pigmentosa: a molecular clue for incomplete penetrance? Investigative ophthalmology & visual science 110 14507862
2008 Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. The Journal of clinical investigation 89 18317597
2003 Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science 82 12714658
2002 Disease mechanism for retinitis pigmentosa (RP11) caused by mutations in the splicing factor gene PRPF31. Human molecular genetics 72 12444105
2006 Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science 69 17003455
2005 Mutations in PRPF31 inhibit pre-mRNA splicing of rhodopsin gene and cause apoptosis of retinal cells. The Journal of neuroscience : the official journal of the Society for Neuroscience 60 15659613
2006 A large deletion in the adRP gene PRPF31: evidence that haploinsufficiency is the cause of disease. Molecular vision 59 16636657
2007 Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science 56 17325180
2016 Variant haploinsufficiency and phenotypic non-penetrance in PRPF31-associated retinitis pigmentosa. Clinical genetics 54 26853529
2022 Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue. NPJ Regenerative medicine 52 35974011
2020 Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy. Experimental eye research 50 32014492
2009 Study of gene-targeted mouse models of splicing factor gene Prpf31 implicated in human autosomal dominant retinitis pigmentosa (RP). Investigative ophthalmology & visual science 48 19578015
2008 Two trans-acting eQTLs modulate the penetrance of PRPF31 mutations. Human molecular genetics 48 18640990
2011 Temporal and tissue specific regulation of RP-associated splicing factor genes PRPF3, PRPF31 and PRPC8--implications in the pathogenesis of RP. PloS one 44 21283520
2010 Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports. BMC medical genetics 43 20939871
2011 Mutant Prpf31 causes pre-mRNA splicing defects and rod photoreceptor cell degeneration in a zebrafish model for Retinitis pigmentosa. Molecular neurodegeneration 42 21801444
2019 AAV-Mediated Gene Augmentation Therapy Restores Critical Functions in Mutant PRPF31+/- iPSC-Derived RPE Cells. Molecular therapy. Methods & clinical development 41 31890732
1996 The PRP31 gene encodes a novel protein required for pre-mRNA splicing in Saccharomyces cerevisiae. Nucleic acids research 39 8604353
2019 Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins. Molecular medicine (Cambridge, Mass.) 36 31892304
2021 Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing. Nucleic acids research 35 33476374
2018 Splicing factors Sf3A2 and Prp31 have direct roles in mitotic chromosome segregation. eLife 35 30475206
2011 CTNNBL1 is a novel nuclear localization sequence-binding protein that recognizes RNA-splicing factors CDC5L and Prp31. The Journal of biological chemistry 34 21385873
2003 Novel deletion in the pre-mRNA splicing gene PRPF31 causes autosomal dominant retinitis pigmentosa in a large Chinese family. American journal of medical genetics. Part A 34 12923864
2007 Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa. Neurobiology of disease 32 17350276
2006 RNA structural requirements for the association of the spliceosomal hPrp31 protein with the U4 and U4atac small nuclear ribonucleoproteins. The Journal of biological chemistry 32 16857676
2017 USP15 regulates dynamic protein-protein interactions of the spliceosome through deubiquitination of PRP31. Nucleic acids research 31 28088760
2013 Dominant PRPF31 mutations are hypostatic to a recessive CNOT3 polymorphism in retinitis pigmentosa: a novel phenomenon of "linked trans-acting epistasis". Annals of human genetics 31 24116917
2008 Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. Molecular vision 31 18552984
2008 Disease mechanism for retinitis pigmentosa (RP11) caused by missense mutations in the splicing factor gene PRPF31. Molecular vision 30 18431455
2005 Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa. American journal of ophthalmology 30 16139010
2004 A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa. Molecular vision 30 15162096
2018 Time Course of Disease Progression of PRPF31-mediated Retinitis Pigmentosa. American journal of ophthalmology 29 30582903
2022 Gene augmentation prevents retinal degeneration in a CRISPR/Cas9-based mouse model of PRPF31 retinitis pigmentosa. Nature communications 28 36509783
2009 A mutation linked to retinitis pigmentosa in HPRP31 causes protein instability and impairs its interactions with spliceosomal snRNPs. Human molecular genetics 28 19293337
2009 Novel PRPF31 and PRPH2 mutations and co-occurrence of PRPF31 and RHO mutations in Chinese patients with retinitis pigmentosa. Archives of ophthalmology (Chicago, Ill. : 1960) 27 19506198
2005 Multiple genetic and biochemical interactions of Brr2, Prp8, Prp31, Prp1 and Prp4 kinase suggest a function in the control of the activation of spliceosomes in Schizosaccharomyces pombe. Current genetics 27 16133344
2016 Course of Ocular Function in PRPF31 Retinitis Pigmentosa. Seminars in ophthalmology 26 26959129
2019 PRPF31 reduction causes mis-splicing of the phototransduction genes in human organotypic retinal culture. European journal of human genetics : EJHG 24 31654038
2014 Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31. Investigative ophthalmology & visual science 24 24595387
2005 Analysis of spliceosomal complexes in Trypanosoma brucei and silencing of two splicing factors Prp31 and Prp43. Molecular and biochemical parasitology 24 16219373
2012 Novel PRPF31 mutations associated with Chinese autosomal dominant retinitis pigmentosa patients. Molecular vision 23 23288994
2017 Analysis of the PRPF31 Gene in Spanish Autosomal Dominant Retinitis Pigmentosa Patients: A Novel Genomic Rearrangement. Investigative ophthalmology & visual science 22 28192796
2008 Identification and functional characterization of a novel splicing mutation in RP gene PRPF31. Biochemical and biophysical research communications 21 18177735
2022 Activation of autophagy reverses progressive and deleterious protein aggregation in PRPF31 patient-induced pluripotent stem cell-derived retinal pigment epithelium cells. Clinical and translational medicine 20 35297555
2013 Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion. Ophthalmic genetics 19 23343310
2006 A study of the nuclear trafficking of the splicing factor protein PRPF31 linked to autosomal dominant retinitis pigmentosa (ADRP). Biochimica et biophysica acta 19 16427773
2021 Determinants of Disease Penetrance in PRPF31-Associated Retinopathy. Genes 18 34680937
2012 A novel 7 bp deletion in PRPF31 associated with autosomal dominant retinitis pigmentosa with incomplete penetrance in an Indian family. Experimental eye research 18 23041261
2017 Novel Mutations in PRPF31 Causing Retinitis Pigmentosa Identified Using Whole-Exome Sequencing. Investigative ophthalmology & visual science 17 29260190
2012 Expression of PRPF31 and TFPT: regulation in health and retinal disease. Human molecular genetics 17 22723017
2011 Structural basis for the dual U4 and U4atac snRNA-binding specificity of spliceosomal protein hPrp31. RNA (New York, N.Y.) 17 21784869
2018 A novel mutation in the PRPF31 in a North Indian adRP family with incomplete penetrance. Documenta ophthalmologica. Advances in ophthalmology 16 30099644
2020 Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy. Ophthalmic genetics 15 32985313
2013 Two novel PRP31 premessenger ribonucleic acid processing factor 31 homolog mutations including a complex insertion-deletion identified in Chinese families with retinitis pigmentosa. Molecular vision 15 24319336
2009 PRPF31 alternative splicing and expression in human retina. Ophthalmic genetics 14 19373678
2021 Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11. Genes 13 34198599
2016 Span poly-L-arginine nanoparticles are efficient non-viral vectors for PRPF31 gene delivery: An approach of gene therapy to treat retinitis pigmentosa. Nanomedicine : nanotechnology, biology, and medicine 13 27381066
2000 Isolation of an essential Schizosaccharomyces pombe gene, prp31(+), that links splicing and meiosis. Nucleic acids research 13 10871341
2023 PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation. Vision research 12 37714045
2016 Host factor PRPF31 is involved in cccDNA production in HBV-replicating cells. Biochemical and biophysical research communications 12 27864147
2007 Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications. Japanese journal of ophthalmology 12 17295140
2024 A Precision Therapy Approach for Retinitis Pigmentosa 11 Using Splice-Switching Antisense Oligonucleotides to Restore the Open Reading Frame of PRPF31. International journal of molecular sciences 11 38542364
2013 Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families. BMJ open 11 24202059
2024 Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy. American journal of ophthalmology 10 38909744
2018 Mutation Analysis of Pre-mRNA Splicing Genes PRPF31, PRPF8, and SNRNP200 in Chinese Families with Autosomal Dominant Retinitis Pigmentosa. Current molecular medicine 10 30360737
2017 Gene of the month: PRPF31. Journal of clinical pathology 10 28663330
2018 A novel mutation in PRPF31, causative of autosomal dominant retinitis pigmentosa, using the BGISEQ-500 sequencer. International journal of ophthalmology 9 29375987
2013 A novel PRPF31 mutation in a large Chinese family with autosomal dominant retinitis pigmentosa and macular degeneration. PloS one 9 24244300
2022 Comprehensive analysis of the PRPF31 gene in retinitis pigmentosa patients: Four novel Alu-mediated copy number variations at the PRPF31 locus. Human mutation 8 36317469
2019 A Combined in silico, in vitro and Clinical Approach to Characterize Novel Pathogenic Missense Variants in PRPF31 in Retinitis Pigmentosa. Frontiers in genetics 8 30967900
2018 Generation of two induced pluripotent stem cell lines from a patient with dominant PRPF31 mutation and a related non-penetrant carrier. Stem cell research 8 30611018
2017 Establishment of an induced pluripotent stem (iPS) cell line from dermal fibroblasts of an asymptomatic patient with dominant PRPF31 mutation. Stem cell research 8 29040912
2010 Ultra high throughput sequencing in human DNA variation detection: a comparative study on the NDUFA3-PRPF31 region. PloS one 8 20927379
2010 The splicing factor Prp31 is essential for photoreceptor development in Drosophila. Protein & cell 7 21203973
2005 [Novel splice-site mutation in the pre-mRNA splicing gene PRPF31 in a Chinese family with autosomal dominant retinitis pigmentosa]. [Zhonghua yan ke za zhi] Chinese journal of ophthalmology 7 15924690
2022 PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization. Biochemical and biophysical research communications 6 36088804
2018 Identification of a novel pathogenic missense mutation in PRPF31 using whole exome sequencing: a case report. The British journal of ophthalmology 6 30030392
2023 Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome. International journal of molecular sciences 5 38139438
2022 Autosomal dominant retinitis pigmentosa with incomplete penetrance due to an intronic mutation of the PRPF31 gene. Molecular vision 5 36338669
2018 Long-term clinical course of 2 Japanese patients with PRPF31-related retinitis pigmentosa. Japanese journal of ophthalmology 5 29305715
2021 Mutations in the splicing regulator Prp31 lead to retinal degeneration in Drosophila. Biology open 4 33495354
2020 A c.544_618del75bp mutation in the splicing factor gene PRPF31 is involved in non-syndromic retinitis pigmentosa by reducing the level of mRNA expression. Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) 3 32031697
2018 Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa. Genetic testing and molecular biomarkers 3 29957067
2025 Characterising PRPF31-associated retinal dystrophy: Clinical insights from baseline data in a natural history study. Acta ophthalmologica 2 40977613
2022 A 69 kb Deletion in chr19q13.42 including PRPF31 Gene in a Chinese Family Affected with Autosomal Dominant Retinitis Pigmentosa. Journal of clinical medicine 2 36431159
2019 Generation and characterization of the human iPSC line CABi001-A from a patient with retinitis pigmentosa caused by a novel mutation in PRPF31 gene. Stem cell research 2 30921587
2005 [Splicing site mutation of D19S418 in PRPF-31 gene and its phenotypic characters with autosomal dominant retinitis pigmentosa]. [Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2 16318756
2025 The RNA content of extracellular vesicles from gene-edited PRPF31 +/- hiPSC-RPE show potential as biomarkers of retinal degeneration. Molecular therapy. Methods & clinical development 1 40231248
2024 The splicing factor Prpf31 is required for hematopoietic stem and progenitor cell expansion during zebrafish embryogenesis. The Journal of biological chemistry 1 38382674
2020 Identification of two novel PRPF31 mutations in Chinese families with non-syndromic autosomal dominant retinitis pigmentosa. Molecular genetics & genomic medicine 1 33085829
2013 A Study into the Evolutionary Divergence of the Core Promoter Elements of PRPF31 and TFPT. Journal of molecular and genetic medicine : an international journal of biomedical research 1 25729402
2026 TFEB-mediated autophagy dysregulation links with PRPF31 deficiency-induced photoreceptor death via PLK4 downregulation. Experimental eye research 0 41932639
2025 PRPF31 reduction causes ciliary defects of photoreceptors via inhibiting expression of FSCN2. Experimental eye research 0 41265626
2025 Single-Cell Transcriptomics on PRPF31-Mutated Retinal Organoids Reveal Early Müller Glial Activation and Progressive Photoreceptor Degeneration. Biomedicines 0 41595581

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