Affinage

EPG5

Ectopic P granules protein 5 homolog · UniProt Q9HCE0

Length
2579 aa
Mass
292.5 kDa
Annotated
2026-06-09
45 papers in source corpus 19 papers cited in narrative 18 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

EPG5 is a metazoan autophagy tethering factor that enforces the specificity of autophagosome–lysosome fusion during the terminal, degradative step of autophagy (PMID:27588602, PMID:23222957). Functioning as a Rab7 effector, it is recruited to late endosomes/lysosomes through direct binding to Rab7 and the R-SNARE VAMP7/8, while simultaneously engaging autophagosomes by binding LC3 and assembled STX17–SNAP29 SNARE complexes; in this position it stabilizes and promotes assembly of STX17–SNAP29–VAMP7/8 trans-SNARE complexes and drives fusion of reconstituted proteoliposomes, with its loss permitting aberrant fusion of autophagosomes with non-autolysosomal endocytic vesicles (PMID:27588602). Structurally, EPG5 adopts an extended helical 'shepherd's staff' architecture and recognizes ATG8 proteins through tandem LIR motifs that preferentially bind the GABARAP subfamily via the canonical LIR docking site, an interaction required for its recruitment to mitochondria during PINK1/Parkin-dependent mitophagy (PMID:33674710, PMID:39809444). The EPG5–LC3 interaction is itself regulated: USP8 binds the EPG5 coiled-coil domain and removes K63-linked ubiquitin at Lys252 to enhance LC3 binding and sustain autophagic flux (PMID:30931944). Beyond canonical degradation, EPG5 controls retrograde endocytic trafficking and Rab conversion, routing signaling cargo such as TGF-β and WNT factors and the TLR9 ligand CpG to the appropriate compartments (PMID:40152605, PMID:29130391). Loss-of-function mutations in EPG5 cause Vici syndrome, with a block in autolysosome formation producing accumulation of autophagic cargo and selective neurodegeneration (PMID:23222957, PMID:23479740, PMID:23674064); mechanistically, EPG5 deficiency drives proteotoxic stress, mitochondrial bioenergetic dysfunction, Ca2+-driven mtDNA release and cGAS-STING activation (PMID:42191733, PMID:27715390).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2012 High

    Establishing EPG5 as a disease gene and a required factor for autophagosome clearance defined its core cellular role before any molecular mechanism was known.

    Evidence Exome sequencing of a patient cohort plus autophagy clearance assays in patient muscle and fibroblasts

    PMID:23222957

    Open questions at the time
    • Molecular activity (tethering vs SNARE regulation) not defined
    • Direct binding partners unidentified
    • Mechanism of selectivity for autolysosome formation unknown
  2. 2013 High

    An in vivo knockout localized EPG5 function to autophagosome-to-autolysosome maturation and revealed a parallel role in endocytic trafficking and recycling, linking the molecular defect to selective neuronal vulnerability.

    Evidence Epg5 knockout mouse with autophagic flux, endocytic trafficking assays, IHC and EM

    PMID:23479740 PMID:23674064

    Open questions at the time
    • Whether endocytic and autophagic defects share one molecular mechanism unresolved
    • Basis of layer 5/motor neuron selectivity not explained
    • No biochemical partners identified
  3. 2016 High

    Reconstitution defined EPG5's biochemical mechanism: a Rab7/VAMP-recruited effector that ensures fusion specificity by stabilizing autophagosomal trans-SNARE complexes and preventing mistargeted fusion.

    Evidence Co-IP, pulldowns, reconstituted proteoliposome fusion assay, and C. elegans/mammalian genetics with SNARE assembly assays

    PMID:27588602

    Open questions at the time
    • Structural basis of SNARE proofreading not resolved
    • Stoichiometry of the tethering complex unknown
    • How EPG5 discriminates correct vs incorrect SNARE pairs unclear
  4. 2016 Medium

    EPG5 loss was shown to cause tissue-specific pathologies—macrophage-intrinsic lung inflammation and UPR-driven photoreceptor apoptosis—broadening its role beyond neurons.

    Evidence Epg5 knockout mice with bone marrow transplantation, transcriptomics, ERG and UPR marker analysis

    PMID:26764600 PMID:27715390

    Open questions at the time
    • Whether inflammation is a direct or downstream consequence of autophagy block unclear
    • Link between UPR activation and apoptosis not fully causal
    • Cell-type selectivity mechanism unknown
  5. 2018 Medium

    EPG5 was assigned a role in innate/adaptive immunity by routing the TLR9 ligand CpG to late endosomes/lysosomes, required for memory B cell survival and plasma cell differentiation.

    Evidence Loss-of-function analysis in Vici syndrome patient cells with CpG trafficking and TLR9 signaling assays

    PMID:29130391

    Open questions at the time
    • Direct molecular interaction routing CpG not defined
    • Single lab, patient-cell based
    • Relationship to canonical fusion function unclear
  6. 2019 Medium

    Discovery that USP8 deubiquitinates EPG5 at Lys252 to enhance LC3 binding revealed an upstream post-translational switch controlling EPG5 activity and autophagic flux.

    Evidence Reciprocal Co-IP, ubiquitination assays, K252 mutagenesis and ESC flux assays

    PMID:30931944

    Open questions at the time
    • E3 ligase placing K63 chains on EPG5 unidentified
    • Whether other sites are modified unknown
    • Physiological context beyond ESCs unclear
  7. 2019 Medium

    Identification of miR-150 as a direct repressor placed EPG5 in a c-myc/miR-150 axis regulating autophagic flux and tumor cell proliferation.

    Evidence Luciferase reporter target validation and EPG5 knockdown rescue in NSCLC, with in vitro and in vivo growth assays

    PMID:31410206

    Open questions at the time
    • Generality of miR-150 regulation across tissues unknown
    • Single lab
    • Whether autophagy block alone drives proliferation unresolved
  8. 2021 High

    Structural and biochemical work resolved EPG5's extended 'shepherd's staff' architecture and showed it preferentially engages GABARAP-subfamily ATG8s via tandem LIR motifs, linking the structure to mitophagy recruitment.

    Evidence Cryo-EM structure, biochemical binding assays, and mitophagy recruitment imaging/fractionation

    PMID:33674710

    Open questions at the time
    • Functional contribution of each LIR motif not fully dissected
    • Full-length membrane-engaged conformation not captured
    • Basis of GABARAP preference structurally incomplete
  9. 2021 Medium

    Sepsis was shown to suppress EPG5–LC3 interaction via TLR4/LPS signaling in platelets, demonstrating physiological regulation of EPG5-dependent fusion in inflammation.

    Evidence Co-IP and proximity ligation assay from septic patient platelets plus an LPS/TLR4 megakaryocyte model with TEM

    PMID:34689707

    Open questions at the time
    • Molecular step linking TLR4 signaling to EPG5–LC3 disruption unknown
    • Single lab
    • Whether post-translational modification mediates the effect untested
  10. 2022 Medium

    Studies of granulosa cells and irradiated glioma cells extended EPG5's degradative role to selective substrate clearance (WT1) and TGM2/SDC1-coordinated fusion, linking it to ovarian insufficiency and tumor radioresponse.

    Evidence Epg5 knockout mouse with scRNA-seq and cycloheximide chase; TMT proteomics, knockdowns and flux assays in a GBM model

    PMID:35786405 PMID:35913916

    Open questions at the time
    • Direct EPG5–substrate recognition not established
    • Mechanistic placement of EPG5 downstream of TGM2 partly inferred
    • Generality of selective WT1 degradation unclear
  11. 2025 High

    A second cryo-EM/NMR study refined the ATG8 binding mode, showing tandem LIR motifs bind only the canonical LDS without multivalency and that LIR1 dominates, with the mode conserved in C. elegans.

    Evidence Cryo-EM, NMR, MD simulations, AlphaFold2, X-ray crystallography, ITC, GST pulldown and co-IP

    PMID:39809444

    Open questions at the time
    • Functional role of the protruding thumb domain undefined
    • How LIR engagement couples to tethering activity unknown
    • In-cell conformational dynamics not resolved
  12. 2025 Medium

    Cross-organism work defined EPG5's role in retrograde endocytic trafficking via Rab conversion and revealed dynein-mediated MTOC-directed autophagosome positioning, mechanistically unifying its autophagic and endocytic functions.

    Evidence C. elegans genetics with trafficking reporters and HOPS epistasis; Drosophila genetic screen with live imaging of autophagosome positioning and motor manipulation

    PMID:40152605 PMID:41147582

    Open questions at the time
    • Direct EPG5–dynein/dynactin interaction not biochemically resolved
    • Mechanism of Rab5-to-Rab7/10 conversion control unclear
    • Human conservation of positioning role untested
  13. 2025 Medium

    EPG5 deficiency was linked to dopaminergic neurodegeneration with defective PINK1-Parkin mitophagy and α-synuclein accumulation, connecting impaired mitochondrial quality control to parkinsonism.

    Evidence EPG5-deficient mouse with substantia nigra pathology and patient fibroblast mitophagy/α-synuclein assays

    PMID:40192014

    Open questions at the time
    • Causal link between mitophagy defect and α-synuclein accumulation not fully resolved
    • Single lab
    • Selectivity for dopaminergic neurons unexplained
  14. 2026 Medium

    A mechanistic chain from impaired mitophagy to innate immune activation was defined: EPG5 loss causes Ca2+-driven mitochondrial overload, mtDNA release and cGAS-STING activation, reversible by mPTP or STING inhibition.

    Evidence Patient fibroblasts and iPSC-derived cortical neurons with mitophagy, Ca2+ imaging, cGAS-STING assays and pharmacological rescue

    PMID:42191733

    Open questions at the time
    • Mechanism of MICU1 downregulation unknown
    • Whether STING activation drives neurodegeneration in vivo untested
    • Single lab

Open questions

Synthesis pass · forward-looking unresolved questions
  • How EPG5 mechanistically integrates trans-SNARE proofreading, Rab-conversion control, motor-driven positioning, and selective substrate clearance into one regulated activity—and how these map onto distinct Vici syndrome phenotypes—remains unresolved.
  • No unified structural model of membrane-engaged EPG5
  • Tissue-selective vulnerability mechanism undefined
  • Upstream signals coordinating EPG5 activity incompletely mapped

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 2 GO:0008289 lipid binding 1 GO:0060090 molecular adaptor activity 1
Localization
GO:0005739 mitochondrion 2 GO:0005764 lysosome 2 GO:0005768 endosome 2
Pathway
R-HSA-9612973 Autophagy 3 R-HSA-168256 Immune System 2 R-HSA-5653656 Vesicle-mediated transport 2
Partners
GABARAPMAP1LC3RAB7SNAP29STX17USP8VAMP7VAMP8

Evidence

Reading pass · 18 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2016 EPG5 is a Rab7 effector recruited to late endosomes/lysosomes by direct interaction with Rab7 and the late endosomal/lysosomal R-SNARE VAMP7/8. EPG5 also binds LC3/LGG-1 and assembled STX17-SNAP29 Qabc SNARE complexes on autophagosomes, stabilizes and facilitates assembly of STX17-SNAP29-VAMP7/8 trans-SNARE complexes, and promotes STX17-SNAP29-VAMP7-mediated fusion of reconstituted proteoliposomes. Loss of EPG5 causes abnormal fusion of autophagosomes with various endocytic vesicles partly due to elevated STX17-SNAP25-VAMP8 complex assembly. Co-immunoprecipitation, pulldown assays, reconstituted proteoliposome fusion assay, C. elegans and mammalian loss-of-function genetics, SNARE complex assembly assays Molecular cell High 27588602
2012 Loss-of-function mutations in EPG5 cause a severe block in autophagosomal clearance, resulting in accumulation of autophagic cargo in autophagosomes, establishing EPG5 as a key regulator of autolysosome formation. Exome sequencing of patient cohort; autophagosome clearance assay in patient muscle and fibroblasts (immunofluorescence, western blot for autophagy markers) Nature genetics High 23222957
2013 Epg5 deficiency in mice blocks maturation of autophagosomes into degradative autolysosomes and also impairs endocytic trafficking and endocytic recycling, leading to selective degeneration of cortical layer 5 pyramidal neurons and spinal cord motor neurons. Epg5 knockout mouse model; autophagic flux assays, endocytic trafficking assays, immunohistochemistry, electron microscopy The Journal of cell biology High 23479740 23674064
2021 Human EPG5 adopts an extended 'shepherd's staff' architecture and binds preferentially to members of the GABARAP subfamily of ATG8 proteins via tandem LIR motifs that exhibit differential affinities; LIR-GABARAP interaction is required for EPG5 recruitment to mitochondria during PINK1/Parkin-dependent mitophagy. Cryo-EM structure, biochemical binding assays, mitophagy recruitment experiments (live imaging/fractionation) Communications biology High 33674710
2025 Cryo-EM structure of human EPG5 reveals helical bundles analogous to membrane tethering factors with a unique protruding thumb domain adjacent to tandem LIR motifs. NMR, molecular dynamics, and AlphaFold modeling show tandem LIR motifs bind only the canonical LIR docking site (LDS) on GABARAP without multivalent engagement; co-IP confirmed full-length EPG5-GABARAP interaction is mediated primarily by LIR1. The same binding mode is conserved in C. elegans EPG-5 with LGG-1 and LGG-2 (X-ray crystallography). Cryo-EM, NMR spectroscopy, molecular dynamics simulations, AlphaFold2 modeling, co-immunoprecipitation, X-ray crystallography, ITC affinity measurements, GST pulldown Autophagy High 39809444
2019 The deubiquitinating enzyme USP8 binds to the coiled-coil domain of EPG5 and removes K63-linked ubiquitin chains from EPG5 at Lysine 252, leading to enhanced interaction between EPG5 and LC3, thereby maintaining autophagic flux in embryonic stem cells. Co-immunoprecipitation, ubiquitination assays, site-directed mutagenesis (K252), LC3 interaction assays, ESC autophagy flux assays Nature communications High 30931944
2022 TGM2 binds SDC1 and transports it from the cell membrane to lysosomes after irradiation; TGM2 then binds LC3 through two LIR motifs, coordinating autophagosome-lysosome encounter as a prerequisite for lysosomal EPG5 to recognize LC3 and stabilize the STX17-SNAP29-VAMP8 SNARE complex assembly. Tandem mass tag proteomics, knockdown experiments, co-immunoprecipitation, autophagic flux assays (GFP-RFP-LC3), in vivo GBM mouse model Autophagy Medium 35913916
2018 EPG5 is indispensable for transport of the TLR9 ligand CpG to the late endosomal-lysosomal compartment and for TLR9-initiated signaling essential for survival of human memory B cells and their differentiation into plasma cells. Loss-of-function analysis in Vici syndrome patient cells; CpG trafficking assays, TLR9 signaling assays, B cell survival/differentiation assays Autophagy Medium 29130391
2021 During sepsis, EPG5-LC3 protein-protein interactions are significantly reduced in platelets via TLR4/LPS-dependent signaling, impairing autophagosome-lysosome fusion and causing accumulation of autophagosomes. Co-immunoprecipitation from septic patient platelets, proximity ligation assay, TEM, megakaryocyte model with LPS/TLR4 manipulation Autophagy Medium 34689707
2022 EPG5 knockout blocks autophagic flux in granulosa cells, causing accumulation of WT1 transcription factor that would normally be degraded by autophagy; failure to degrade WT1 in antral follicular stage reduces steroidogenesis-related gene expression and disrupts granulosa cell differentiation, leading to primary ovarian insufficiency. Epg5 knockout mouse, single-cell RNA sequencing, autophagic flux assays, cycloheximide chase for WT1 stability, co-IP/interaction assays Autophagy Medium 35786405
2016 Epg5 plays a role in lung macrophage physiology to limit innate immune inflammation; deletion of Epg5 leads to elevated baseline innate immune cellular and cytokine-based lung inflammation, as confirmed by bone marrow transplantation experiments showing the phenotype is macrophage-intrinsic. Epg5 knockout mouse, bone marrow transplantation, lung transcriptomics, cellular cytokine expression analysis Cell host & microbe Medium 26764600
2025 In C. elegans, EPG-5 modulates TGFB/TGF-β and WNT signaling by controlling retrograde endocytic trafficking; in epg-5 mutants, TGFB receptor SMA-6 and WNT secretion factor MIG-14 are trapped in hybrid endosomal structures. EPG-5 loss causes defective RAB-5/RAB-7 and RAB-5/RAB-10 conversion leading to hybrid vesicle formation; defects are ameliorated by knockdown of HOPS complex components. C. elegans genetics, fluorescence microscopy of trafficking reporters, epistasis with HOPS complex knockdown, RAB conversion assays Autophagy Medium 40152605
2025 In Drosophila fat cells, pre-fusion autophagosomes move toward the non-centrosomal MTOC via a dynein-dynactin complex regulated by Rab7 and its adaptor Epg5 (together with Rab39/ema); Epg5 loss-of-function impairs this MTOC-directed movement and reduces autophagosome-lysosome fusion efficiency. Loss-of-function genetic screen in Drosophila, live imaging of autophagosome positioning, motor manipulation experiments eLife Medium 41147582
2026 In EPG5-deficient patient-derived fibroblasts and iPSC-derived cortical neurons, impaired mitophagy leads to mitochondrial bioenergetic dysfunction; physiological Ca2+ signals cause mitochondrial Ca2+ overload (attributed to MICU1 downregulation), mitochondrial depolarization, mtDNA release, and activation of the cGAS-STING innate immune pathway. These effects are reversed by inhibition of the mitochondrial permeability transition pore or the STING pathway. Patient-derived fibroblasts, iPSC-derived cortical neurons, mitophagy assays, mitochondrial membrane potential measurement, Ca2+ imaging, cGAS-STING pathway activation assays, pharmacological inhibition Nature communications Medium 42191733
2025 EPG5 deficiency in mice leads to progressive dopaminergic neurodegeneration in the substantia nigra, and patient-derived fibroblasts show defects in PINK1-Parkin-dependent mitophagic clearance and α-synuclein overexpression, linking EPG5 to a cellular basis for parkinsonism. EPG5-deficient mouse model, patient-derived fibroblast mitophagy assays, α-synuclein immunostaining, PINK1-Parkin pathway assays Annals of neurology Medium 40192014
2024 Proteotoxic stress due to impaired autophagic clearance from EPG5 loss correlates with and co-regulates seizure-like behaviors in Drosophila; the epileptogenesis is a direct consequence of proteotoxic stress and age-dependent neurodegeneration rather than an independent pathway. Drosophila epg5 loss-of-function, electrocorticography, behavioral seizure assays (DART), proteotoxic stress markers, correlation analysis Autophagy Medium 39342484
2019 miR-150 directly represses EPG5, blocking autophagosome-lysosome fusion; EPG5 knockdown promotes NSCLC cell proliferation and recapitulates miR-150 overexpression effects, placing EPG5 downstream of c-myc/miR-150 in regulating autophagic flux. miR-150 target validation (luciferase reporter, EPG5 protein level), EPG5 knockdown, autophagic flux assays (GFP-LC3), in vitro and in vivo tumor growth assays Theranostics Medium 31410206
2016 Epg5-deficient mice show accumulation of ubiquitin-positive inclusions and SQSTM1 aggregates in retinal cells with impaired autophagosome maturation, leading to unfolded protein response (UPR) activation and elevated DDIT3/CHOP and cleaved CASP3, resulting in apoptotic photoreceptor cell death recapitulating retinitis pigmentosa. Epg5 knockout mouse, immunofluorescence, western blot (UPR markers), photoreceptor function tests (ERG), cell counting in outer nuclear layer Autophagy Medium 27715390

Source papers

Stage 0 corpus · 45 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2016 The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the Fusion Specificity of Autophagosomes with Late Endosomes/Lysosomes. Molecular cell 244 27588602
2012 Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nature genetics 210 23222957
2013 Mice deficient in Epg5 exhibit selective neuronal vulnerability to degeneration. The Journal of cell biology 115 23479740
2016 EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain : a journal of neurology 108 26917586
2016 Homeostatic Control of Innate Lung Inflammation by Vici Syndrome Gene Epg5 and Additional Autophagy Genes Promotes Influenza Pathogenesis. Cell host & microbe 85 26764600
2022 SDC1-dependent TGM2 determines radiosensitivity in glioblastoma by coordinating EPG5-mediated fusion of autophagosomes with lysosomes. Autophagy 55 35913916
2013 Role of Epg5 in selective neurodegeneration and Vici syndrome. Autophagy 52 23674064
2022 Epg5 deficiency leads to primary ovarian insufficiency due to WT1 accumulation in mouse granulosa cells. Autophagy 51 35786405
2019 C-myc/miR-150/EPG5 axis mediated dysfunction of autophagy promotes development of non-small cell lung cancer. Theranostics 48 31410206
2019 USP8 maintains embryonic stem cell stemness via deubiquitination of EPG5. Nature communications 41 30931944
2014 First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. American journal of medical genetics. Part A 30 25331754
2015 Defective autophagy through epg5 mutation results in failure to reduce germ plasm and mitochondria. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 29 26183773
2018 The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity. Autophagy 24 29130391
2016 Mice deficient in the Vici syndrome gene Epg5 exhibit features of retinitis pigmentosa. Autophagy 23 27715390
2021 Human platelets display dysregulated sepsis-associated autophagy, induced by altered LC3 protein-protein interaction of the Vici-protein EPG5. Autophagy 22 34689707
2021 Insights on autophagosome-lysosome tethering from structural and biochemical characterization of human autophagy factor EPG5. Communications biology 19 33674710
2019 The epg5 knockout zebrafish line: a model to study Vici syndrome. Autophagy 18 30806141
2021 Intestinal antiviral signaling is controlled by autophagy gene Epg5 independent of the microbiota. Autophagy 17 34520306
2017 Muscle pathology in Vici syndrome-A case study with a novel mutation in EPG5 and a summary of the literature. Neuromuscular disorders : NMD 17 28624465
2007 Comparative integromics on the breast cancer-associated gene KIAA1632: clues to a cancer antigen domain. International journal of oncology 14 17549423
2017 EPG5-Related Vici Syndrome: A Primary Defect of Autophagic Regulation with an Emerging Phenotype Overlapping with Mitochondrial Disorders. JIMD reports 11 29159459
2016 Non-parametric Survival Analysis of EPG5 Gene with Age at Onset of Alzheimer's Disease. Journal of molecular neuroscience : MN 11 27586004
2025 Biallelic Variants in EPG5 Gene Are Associated with Parkinson's Disease. Annals of neurology 9 40192014
2020 Vici syndrome with pathogenic homozygous EPG5 gene mutation: A case report and literature review. Medicine 9 33120733
2017 Autopsy findings in EPG5-related Vici syndrome with antenatal onset. American journal of medical genetics. Part A 9 28748650
2018 Low-level expression of EPG5 leads to an attenuated Vici syndrome phenotype. American journal of medical genetics. Part A 7 29681093
2024 Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients. Autophagy 6 39342484
2022 An induced pluripotent stem cell line (CIMRi001-A) from a Vici syndrome donor with a homozygous recessive c.1007A>G (p.Q336R) mutation in the EPG5 gene. Stem cell research 6 35700637
2019 EPG5 c.1007A > G mutation in a sibling pair with rapidly progressing Vici syndrome. Annals of human genetics 6 31184778
2019 EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome. Neuropediatrics 5 31226715
2018 Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome. American journal of medical genetics. Part A 5 30152144
2025 Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism. Annals of neurology 4 41053928
2025 Structure of the human autophagy factor EPG5 and the molecular basis of its conserved mode of interaction with Atg8-family proteins. Autophagy 3 39809444
2022 Novel EPG5 Mutation Associated with Vici Syndrome Gene. Case reports in genetics 3 35846893
2025 EPG-5 regulates TGFB/TGF-β and WNT signalling by modulating retrograde endocytic trafficking. Autophagy 2 40152605
2024 Perinatal clinical course of Vici syndrome associated with novel EPG5 variants: unique cardiac changes and difficulty with foetal diagnosis. BMJ case reports 2 38182173
2024 Clinical Presentation and Molecular Characterization of 3 Patients with Vici Syndrome: Two Novel Variants in the EPG5 Gene. Molecular syndromology 2 38841323
2019 Vici Syndrome with a Novel Mutation in EPG5. Indian pediatrics 2 31333218
2025 The Rab7-Epg5 and Rab39-ema modules cooperatively position autophagosomes for efficient lysosomal fusions. eLife 1 41147582
2023 The role of ectopic P granules protein 5 homolog (EPG5) in DHPG-induced pain sensitization in mice. Journal of neurochemistry 1 36748629
2021 The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5. International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 1 34405433
2026 Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome. Experimental & molecular medicine 0 41618100
2026 Pathogenic variants in the autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation. Nature communications 0 42191733
2025 Progressive neuroinflammation and deficits in motor function in a mouse model with an Epg5 pathogenic variant of Vici syndrome. bioRxiv : the preprint server for biology 0 40661372
2022 [Variation analysis of EPG5 gene in a Vici syndrome family]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 0 35076917

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