Affinage

TULP1

Tubby-related protein 1 · UniProt O00294

Length
542 aa
Mass
60.6 kDa
Annotated
2026-06-10
48 papers in source corpus 17 papers cited in narrative 16 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

TULP1 is a photoreceptor-specific cytoplasmic protein required for the polarized transport of nascent phototransduction proteins from the inner segment to the outer segment and for synaptic integrity at the photoreceptor ribbon terminal (PMID:10549638, PMID:19218615, PMID:20238006). In Tulp1-deficient retinas, rod and cone opsins are ectopically localized and extracellular vesicles accumulate around the distal inner segments, while guanylate cyclase 1, GCAP1/2, and light-driven arrestin translocation are also disrupted, alongside abnormal distribution of the Rab8/Rab11 rhodopsin transport machinery — defining TULP1 as an adapter for vesicular docking and trafficking near the connecting cilium (PMID:10549638, PMID:21867699). TULP1 acts as a trafficking adapter through compartment-specific interactions: it binds F-actin, MAP1B, and the kinesin motor Kif3a in the inner segment, and the photoreceptor disc protein PRCD via its conserved C-terminal tubby domain, directing PRCD to outer segment discs (PMID:16303976, PMID:24664738, PMID:33213002, PMID:34360830). At the presynaptic terminal, TULP1 is enriched in the periactive zone where it organizes endocytic machinery and interacts with the ribbon protein RIBEYE to maintain ribbon synapse integrity and normal bipolar cell dendrite development (PMID:19218615, PMID:20238006, PMID:26911694). Missense mutations in the C-terminal tubby domain cause protein misfolding and ER accumulation that activates the IRE1 branch of the unfolded protein response and drives photoreceptor apoptosis, whereas mutations outside this domain preserve retinal function — establishing that mutation location dictates disease mechanism and severity (PMID:26987071, PMID:41493298). TULP1 expression is further controlled post-transcriptionally by the m6A reader YTHDF1, which enhances TULP1 mRNA translation; its loss reduces TULP1 protein and causes progressive retinal degeneration (PMID:40116022).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 1999 High

    Established that TULP1 is a photoreceptor-restricted protein whose loss causes opsin mislocalization, framing it as a candidate mediator of polarized outer segment transport.

    Evidence Immunoblotting, microscopy, and electroretinography in tulp1-/- mice; in situ hybridization and IHC across tubby family members

    PMID:10509669 PMID:10549638

    Open questions at the time
    • The molecular partners mediating transport were not yet identified
    • Mechanism of opsin mistrafficking versus a general secretion defect was undefined
  2. 2005 Medium

    Identified F-actin and membrane phospholipid binding as the biochemical basis for TULP1 association with the trafficking compartments, beginning to define its adapter mechanism.

    Evidence Co-IP/LC-MS/MS, co-sedimentation, phospholipid binding, and immunocytochemistry in retinal lysates

    PMID:16303976

    Open questions at the time
    • Did not link actin binding to specific cargo transport
    • Single lab, not reciprocally confirmed across systems
  3. 2009 High

    Extended TULP1 function beyond trafficking to the synapse, showing it is required for ribbon synapse integrity and bipolar dendrite development.

    Evidence Immunohistochemistry in tulp1-/- and rd10 mice with degeneration controls and ERG

    PMID:19218615 PMID:20238006

    Open questions at the time
    • The synaptic binding partner was not yet identified
    • Whether the synaptic role is independent of trafficking was unclear
  4. 2011 High

    Broadened the substrate repertoire to guanylate cyclase 1, GCAP1/2, and arrestin translocation, and implicated Rab8/Rab11, positioning TULP1 at vesicular docking/fusion near the connecting cilium.

    Evidence Immunohistochemistry for multiple outer segment proteins and arrestin translocation assay in tulp1-/- mice before degeneration

    PMID:21867699

    Open questions at the time
    • Direct physical interaction with Rab proteins not demonstrated
    • Did not resolve whether TULP1 acts in cargo selection or vesicle delivery
  5. 2012 Medium

    Demonstrated a functional genetic interaction with MAP1A, showing modifier alleles alter photoreceptor degeneration in Tulp1 mutants.

    Evidence QTL analysis and transgenic rescue crossing a protective Mtap1a allele into Tulp1-deficient mice

    PMID:22323461

    Open questions at the time
    • Genetic interaction does not establish direct physical mechanism
    • How MAP1A modifies degeneration was not defined
  6. 2014 Medium

    Identified MAP1B as a direct partner and connected TULP1 to TUB heterodimerization with a role in RPE phagocytosis, expanding its interactome.

    Evidence Co-IP, PLA, phage display, Y2H, pull-down, and RPE phagocytosis assays in mouse retina and cultured cells

    PMID:24664737 PMID:24664738

    Open questions at the time
    • MerTK-dependent phagocytosis role not validated in vivo for TULP1
    • Cytoskeletal partner interactions confirmed in single lab only
  7. 2016 High

    Resolved the synaptic mechanism by showing TULP1 organizes periactive zone endocytosis and binds RIBEYE, and separately linked tubby-domain missense mutations to ER stress and UPR-driven death.

    Evidence Endocytic activity analysis and RIBEYE interaction in Tulp1 KO mice; mutant TULP1-GFP transfection with ER tracker, UPR western blots, and qPCR in RPE-1 cells

    PMID:26911694 PMID:26987071

    Open questions at the time
    • UPR activation shown in cell lines, not yet in vivo
    • Which endocytic proteins TULP1 directly contacts was not resolved
  8. 2020 Medium

    Mapped PRCD trafficking to the conserved C-terminal tubby domain, linking domain function to outer segment disc cargo delivery.

    Evidence Yeast two-hybrid, co-IP in mammalian cells, and IHC in TULP1- and TUB-deficient mouse retinas

    PMID:33213002

    Open questions at the time
    • Structural basis of tubby-domain cargo recognition unresolved
    • Whether PRCD competes with other cargos for the domain unknown
  9. 2021 Medium

    Defined compartment-specific interactomes, showing TULP1 links cargo to the kinesin motor Kif3a in the inner segment and to RIBEYE at the synapse, with MAP1B shared, supporting an adapter model; one tubby-domain variant lowered stability without ER stress.

    Evidence Compartment-isolating tangential sectioning with Co-IP/MS and immunolocalization; cycloheximide-chase stability assays for p.P388S in cultured cells

    PMID:33907372 PMID:34360830

    Open questions at the time
    • Motor-coupling of cargo not reconstituted biochemically
    • Genotype-mechanism relationship of variants only partly explained
  10. 2022 Medium

    Revealed a transcriptional role in cilium biogenesis, with Tulp1 activating the tekt2 promoter, and tied loss to ferroptosis-associated degeneration in zebrafish.

    Evidence Zebrafish single/double knockouts, RNA-seq, dual-luciferase tekt2 promoter assay, EM, and iron/lipid droplet staining

    PMID:36396940

    Open questions at the time
    • Whether mammalian TULP1 acts transcriptionally is untested
    • Direct DNA binding by TULP1 not demonstrated
  11. 2025 Medium

    Identified post-transcriptional control of TULP1 by the m6A reader YTHDF1, which enhances TULP1 translation and is required to sustain protein levels and retinal function.

    Evidence Ythdf1 KO mice, MeRIP-seq, RIP-seq, single-cell RNA-seq, and ERG

    PMID:40116022

    Open questions at the time
    • Functional contribution of m6A regulation to disease not established
    • Other regulators of TULP1 translation unknown
  12. 2026 High

    Demonstrated in knock-in mice that tubby-domain mutations drive rapid degeneration with mistrafficking and IRE1-branch UPR activation, while a mutation outside the domain spares the retina, proving mutation location dictates mechanism and severity.

    Evidence Tulp1F492L and Tulp1D89Y knock-in mice with IHC, ERG, and UPR western blots compared to Tulp1-/- mice

    PMID:41493298

    Open questions at the time
    • Structural explanation for tubby-domain misfolding not resolved
    • Therapeutic modulation of the IRE1 arm not tested

Open questions

Synthesis pass · forward-looking unresolved questions
  • How TULP1 mechanistically couples phospholipid/actin binding to motor-driven cargo selection, and whether its zebrafish transcriptional/ciliary role applies in mammals, remain open.
  • No reconstituted cargo-motor transport complex
  • Direct DNA-binding/transcriptional activity unconfirmed in mammals
  • No high-resolution structure of cargo-bound tubby domain

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0060090 molecular adaptor activity 4 GO:0008092 cytoskeletal protein binding 3 GO:0008289 lipid binding 1
Localization
GO:0005783 endoplasmic reticulum 2 GO:0005856 cytoskeleton 2 GO:0005929 cilium 2
Partners
ACTBKIF3AMAP1AMAP1BPRCDRIBEYETUBYTHDF1

Evidence

Reading pass · 16 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1999 Tulp1 protein is found exclusively in photoreceptors, localizing predominantly in the inner segments as a soluble ~70 kDa protein. In tulp1-/- mice, rod and cone opsins exhibit prominent ectopic localization and massive extracellular vesicles accumulate around the distal inner segments, consistent with a role in polarized transport of nascent opsin to the outer segments. Immunoblotting, immunocytochemistry, light and electron microscopy, electroretinography in tulp1-/- knockout mice Investigative ophthalmology & visual science High 10549638
2005 TULP1 interacts with F-actin in photoreceptor cells. TULP1 associates with the membranous fraction of cells, likely through binding phosphorylated phospholipids, and co-sediments with actin. In photoreceptor cells, TULP1 and actin co-localize at the inner segment, connecting cilium, and outer limiting membrane. Immunoprecipitation from retinal lysates, liquid chromatography tandem mass spectrometry, co-sedimentation assays, subcellular fractionation, phospholipid binding assays, immunocytochemistry Investigative ophthalmology & visual science Medium 16303976
2009 Tulp1 localizes to the photoreceptor synapse, and in tulp1-/- mice the spatial relationship between ribbon-associated proteins Bassoon and Piccolo is disrupted, few intact ribbons are present, and bipolar cell dendrites are stunted — demonstrating that Tulp1 is essential for photoreceptor synaptic ribbon integrity and normal bipolar cell dendrite development. Immunohistochemistry in tulp1-/- and rd10 mice prior to degeneration; electroretinography; comparison with rd10 controls Investigative ophthalmology & visual science High 19218615 20238006
2011 In tulp1-/- photoreceptors, guanylate cyclase 1 and guanylate cyclase activating proteins 1 and 2 are mislocalized, and arrestin fails to translocate to the outer segment in response to light. Rab8 and Rab11 (rhodopsin transport machinery proteins) show abnormal distribution, implicating Tulp1 in vesicular docking and fusion near the connecting cilium for the opsin and guanylate cyclase carrier pathways. Immunohistochemistry for multiple outer segment proteins in tulp1-/- mice prior to degeneration; light-stimulated arrestin translocation assay Experimental eye research High 21867699
2016 Tulp1 is highly enriched in the periactive zone of photoreceptor presynaptic terminals where it co-localizes with major endocytic proteins. In Tulp1 knockout mice, endocytic proteins are no longer enriched at the periactive zone and endocytic activity near the synaptic ribbon is reduced. Additionally, Tulp1 interacts with the synaptic ribbon protein RIBEYE, and this interaction is important to maintain synaptic ribbon integrity. Immunolocalization, analysis of endocytic activity in Tulp1 KO mice, protein interaction studies identifying Tulp1-RIBEYE interaction The Journal of neuroscience High 26911694
2016 Common missense mutations in TULP1 produce misfolded protein products that accumulate within the endoplasmic reticulum (ER), causing prolonged ER stress and activation of the unfolded protein response (UPR). The PERK and IRE1 apoptotic arms of the UPR are activated, along with significant upregulation of CHOP, leading to photoreceptor cell death. Transfection of mutant TULP1-GFP constructs in hTERT-RPE-1 cells; ER tracker staining; confocal microscopy; western blotting for UPR markers (BiP/GRP-78, phospho-PERK, CHOP); qPCR PloS one Medium 26987071
2014 Tulp1 interacts with both MAP1B (by immunoprecipitation and proximity ligation assay localized to the outer nuclear layer and inner segment) and is functionally linked to MAP1A. In tulp1-/- retinas, MAP1A and MAP1B are no longer localized to the outer segment of photoreceptors, suggesting their transport to the outer segment is Tulp1-dependent. Western blots, immunoprecipitation, immunohistochemistry, proximity ligation assay (PLA) in wild-type and tulp1-/- mouse retinas Advances in experimental medicine and biology Medium 24664738
2020 TULP1 (and its homolog TUB) interact with photoreceptor disc component PRCD via the highly conserved C-terminal tubby domain. This interaction is required for PRCD's exclusive localization to photoreceptor outer segment discs, as PRCD localization is altered in TULP1- and TUB-deficient mouse retinas. Yeast two-hybrid (Ras recruitment system) on bovine retina cDNA library; co-immunoprecipitation in transfected mammalian cells; immunohistochemistry in TULP1- and TUB-deficient mouse retinas International journal of molecular sciences Medium 33213002
2021 Tulp1 has two distinct photoreceptor compartment-specific interactomes: (1) an inner segment (IS)-specific interaction with the motor protein Kinesin family member 3a (Kif3a), (2) a synaptic-specific interaction with the scaffold protein Ribeye, and (3) an interaction with microtubule-associated protein 1B (MAP1B) in both compartments. Tulp1 and its binding partners co-localize to their respective compartments, supporting an adapter function linking vesicles to molecular motors. Serial tangential sectioning to isolate photoreceptor compartments; immunoprecipitation followed by liquid chromatography tandem mass spectrometry; immunolocalization studies International journal of molecular sciences Medium 34360830
2014 Tulp1 and Tubby (TUB) interact, forming heterodimers or heterooligomers, and this interaction was functionally revealed by their synergistic stimulation of retinal pigment epithelium (RPE) phagocytosis through MerTK-dependent signaling with non-muscle myosin II redistribution. ORF phage display; yeast two-hybrid; protein pull-down assays; RPE phagocytosis assays; non-muscle myosin II redistribution assay Advances in experimental medicine and biology Medium 24664737
2012 A protective allele of Mtap1a (encoding MAP1A) significantly reduces photoreceptor degeneration in Tulp1 mutant (Tulp1tm1Pjn/tm1Pjn) mice, demonstrating a functional genetic interaction between Tulp1 and MAP1A in photoreceptor maintenance. Quantitative trait locus (QTL) analysis in F2 intercross; histological phenotyping; transgenic rescue experiment crossing Mtap1a129P2/OlaHsd allele into Tulp1-deficient mice Investigative ophthalmology & visual science Medium 22323461
2022 In zebrafish tulp1 double knockout (tulp1-dKO), photoreceptor cilium length is significantly reduced, and expression of tektin2 (tekt2), a ciliary/flagellar microtubule structural component, is downregulated. Dual-luciferase reporter assays show that Tulp1a and Tulp1b transcriptionally activate the tekt2 promoter, providing a mechanism by which loss of Tulp1 causes ciliary defects and opsin mislocalization. Additionally, ferroptosis pathway genes are upregulated in tulp1-dKO retinas with mitochondrial shrinkage and iron/lipid droplet deposition. Zebrafish single and double knockouts; immunofluorescence for opsins; RNA-seq; dual-luciferase reporter assay for tekt2 promoter; electron microscopy; iron and lipid droplet staining Cell death & disease Medium 36396940
2021 The TULP1 p.P388S missense mutation does not alter subcellular distribution or induce ER stress compared to wild-type TULP1, but significantly lowers protein stability as demonstrated by steady-state and cycloheximide-chase experiments in cultured cells. Exome sequencing; transfection of mutant TULP1 in cultured cells; western blotting (steady-state and cycloheximide-chase); confocal microscopy; qPCR for ER stress markers Molecular vision Medium 33907372
2026 Knock-in mice expressing the Tulp1F492L mutation (C-terminal tubby domain) show rapid photoreceptor degeneration, rod and cone opsin mistrafficking, abnormal ribbon synapses, and activation of the IRE1 branch of the ER-UPR. Knock-in mice expressing Tulp1D89Y (outside the tubby domain) show preserved retinal morphology and function up to 12 months, indicating mutation location within the protein determines disease severity and mechanism. Novel knock-in mouse models; immunohistochemistry; ERG; western blot for UPR markers (IRE1 branch); comparison with Tulp1-/- mice Human molecular genetics High 41493298
2025 The m6A reader YTHDF1 binds m6A-modified TULP1 mRNA at the coding sequence and enhances its translational efficiency without altering mRNA levels. Loss of Ythdf1 in mice results in reduced TULP1 protein, impaired scotopic ERG responses, and progressive retinal degeneration. Ythdf1 knockout mice; MeRIP sequencing; RIP sequencing; single-cell RNA-seq; ERG; integrative bioinformatic analysis Zoological research Medium 40116022
1999 Tulp1 mRNA and protein expression in the retina is restricted to photoreceptor cells, with TULP1 immunoreactivity in the outer plexiform layer and inner segments. Each tubby family member has distinct cell-specific expression in the retina, explaining their inability to compensate for each other. In situ hybridization with riboprobes; immunohistochemistry in tubby and wild-type mice Investigative ophthalmology & visual science Medium 10509669

Source papers

Stage 0 corpus · 48 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1998 Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. Nature genetics 180 9462750
1998 TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Nature genetics 138 9462751
1999 Retinal degeneration in tulp1-/- mice: vesicular accumulation in the interphotoreceptor matrix. Investigative ophthalmology & visual science 120 10549638
1997 Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. Proceedings of the National Academy of Sciences of the United States of America 120 9096357
1999 Cell-specific expression of tubby gene family members (tub, Tulp1,2, and 3) in the retina. Investigative ophthalmology & visual science 62 10509669
2005 Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells. Investigative ophthalmology & visual science 52 16303976
2007 Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration. Investigative ophthalmology & visual science 50 17962469
2014 TULP1 mutations causing early-onset retinal degeneration: preserved but insensitive macular cones. Investigative ophthalmology & visual science 46 25074776
2009 Early synaptic defects in tulp1-/- mice. Investigative ophthalmology & visual science 46 19218615
2011 Immunocytochemical evidence of Tulp1-dependent outer segment protein transport pathways in photoreceptor cells. Experimental eye research 41 21867699
2000 Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa. Investigative ophthalmology & visual science 39 10711677
2013 Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction. Ophthalmology 37 23499059
2012 Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. Molecular vision 34 22605927
2007 Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. Archives of ophthalmology (Chicago, Ill. : 1960) 32 17620573
2016 The Disease Protein Tulp1 Is Essential for Periactive Zone Endocytosis in Photoreceptor Ribbon Synapses. The Journal of neuroscience : the official journal of the Society for Neuroscience 27 26911694
2022 Tulp1 deficiency causes early-onset retinal degeneration through affecting ciliogenesis and activating ferroptosis in zebrafish. Cell death & disease 24 36396940
2012 Identification of recurrent and novel mutations in TULP1 in Pakistani families with early-onset retinitis pigmentosa. Molecular vision 23 22665969
2008 A novel splice-site mutation of TULP1 underlies severe early-onset retinitis pigmentosa in a consanguineous Israeli Muslim Arab family. Molecular vision 22 18432314
2016 Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal Degeneration. PloS one 21 26987071
2012 An allele of microtubule-associated protein 1A (Mtap1a) reduces photoreceptor degeneration in Tulp1 and Tub Mutant Mice. Investigative ophthalmology & visual science 20 22323461
2001 Molecular cloning, expression and regulation of the avian tubby-like protein 1 (tulp1) gene. Gene 18 11483369
2016 Pathogenic mutations in TULP1 responsible for retinitis pigmentosa identified in consanguineous familial cases. Molecular vision 16 27440997
2019 The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy. Molecular genetics & genomic medicine 15 30950243
2014 Advantage of Whole Exome Sequencing over Allele-Specific and Targeted Segment Sequencing in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. Ophthalmic genetics 14 24547928
2014 A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod-cone dystrophy phenotype on the Arabian Peninsula. The British journal of ophthalmology 14 25342276
2011 Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families. Archives of ophthalmology (Chicago, Ill. : 1960) 13 21987678
1995 Cloning and characterisation of the gene encoding the ribosomal protein S5 (also known as rp14, S2, YS8) of Saccharomyces cerevisiae. Nucleic acids research 12 8524651
2018 Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in TULP1 in a patient with early onset retinal dystrophy. Molecular vision 11 30090012
2014 Interaction of tubby-like protein-1 (Tulp1) and microtubule-associated protein (MAP) 1A and MAP1B in the mouse retina. Advances in experimental medicine and biology 11 24664738
2021 A novel homozygous missense mutation p.P388S in TULP1 causes protein instability and retinitis pigmentosa. Molecular vision 10 33907372
2020 Non-photoreceptor Expression of Tulp1 May Contribute to Extensive Retinal Degeneration in Tulp1-/- Mice. Frontiers in neuroscience 10 32655363
2021 Photoreceptor Compartment-Specific TULP1 Interactomes. International journal of molecular sciences 9 34360830
2017 Tubby-like protein 1 (Tulp1) is a target of microRNA-134 and is down-regulated in experimental epilepsy. International journal of physiology, pathophysiology and pharmacology 9 29348794
2023 Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy. International journal of molecular sciences 8 36769033
2020 AAV-Delivered Tulp1 Supplementation Therapy Targeting Photoreceptors Provides Minimal Benefit in Tulp1-/- Retinas. Frontiers in neuroscience 8 32973439
2020 TULP1 and TUB Are Required for Specific Localization of PRCD to Photoreceptor Outer Segments. International journal of molecular sciences 8 33213002
2010 Tubby-like protein 1 (Tulp1) is required for normal photoreceptor synaptic development. Advances in experimental medicine and biology 8 20238006
2016 TULP1 Missense Mutations Induces the Endoplasmic Reticulum Unfolded Protein Response Stress Complex (ER-UPR). Advances in experimental medicine and biology 7 26427415
2014 Synergistic interaction of tubby and tubby-like protein 1 (Tulp1). Advances in experimental medicine and biology 6 24664737
2021 TULP1 related retinal dystrophy: report of rare and novel variants with a previously undescribed phenotype in two cases. Ophthalmic genetics 5 34865612
2022 Natural history and biomarkers of retinal dystrophy caused by the biallelic TULP1 variant c.148delG. Acta ophthalmologica 4 36128853
2024 Deciphering complexity: TULP1 variants linked to an atypical retinal dystrophy phenotype. Frontiers in genetics 3 38450199
2016 A Novel Approach to Identify Photoreceptor Compartment-Specific Tulp1 Binding Partners. Advances in experimental medicine and biology 3 26427465
1998 Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3. Genomics 3 9521870
2025 Single-cell sequencing analysis reveals the essential role of the m 6A reader YTHDF1 in retinal visual function by regulating TULP1 and DHX38 translation. Zoological research 2 40116022
2025 Correlation of Anti-TULP1 Autoantibodies with Breast Cancer and Autoimmune Retinopathy. International journal of molecular sciences 1 40141211
2026 TULP1 missense mutations cause variable retinal phenotypes and activation of the endoplasmic reticulum unfolded protein response pathway. Human molecular genetics 0 41493298
2026 Isolated bull's eye maculopathy in two siblings with biallelic TULP1 variants. Ophthalmic genetics 0 41912321

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