Affinage

Showing DNM1L — VPS1 is a alias.

DNM1L

Dynamin-1-like protein · UniProt O00429

Length
736 aa
Mass
81.9 kDa
Annotated
2026-06-09
88 papers in source corpus 44 papers cited in narrative 45 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 9/9 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

DNM1L/DRP1 is a self-assembling dynamin-family GTPase that drives membrane fission across organelles, with its mammalian role centered on the division of mitochondria and peroxisomes (PMID:9422767, PMID:20585624, PMID:27328748). The enzymatic logic was established in the yeast ortholog Vps1, where the N-terminal domain provides GTP binding and hydrolysis essential for membrane traffic while the C-terminal half mediates membrane association and oligomerization (PMID:1429836, PMID:8299420). Self-assembly couples directly to catalysis: assembly stimulates GTPase activity, and crystal/cryo-EM structures show that GTP hydrolysis intermediates and a novel inter-GTPase-domain interface transmit assembly-state information to the active site, a mechanism whose disruption abolishes function in vivo (PMID:30087125, PMID:35914810). The P-loop K42A mutation abrogates catalysis by disorganizing the active site and traps the protein in assembled oligomers, explaining the dominant-negative behavior of GTPase-dead alleles (PMID:31981262). Mitochondrial and peroxisomal fission depend on recruitment of DNM1L to constriction sites via receptors and upstream factors including MTFP1, the PPA2-MTFP1 axis acting through MFF and FIS1, and the Vps1-specific peroxisomal receptor Pex27 in yeast (PMID:28643438, PMID:36825558, PMID:40873007). Activity is tuned by Ser616 phosphorylation linked to MAPK/ERK and mitophagy signaling, by autophagy-dependent turnover through PRKAA/AMPK with SQSTM1/p62 delivering DNM1L to autophagosomes, and by USP3-mediated removal of K48-linked ubiquitin that stabilizes the protein (PMID:28085543, PMID:33300446, PMID:40197257). Alternative splicing of the variable B-insert and A-insert region modulates fission efficiency, with insert-lacking isoforms conferring more robust activity (PMID:42053410). Loss or dominant-negative mutation of DNM1L produces elongated, hyperfused mitochondria and aberrant peroxisomes with respiratory chain defects, reduced ATP, impaired mitophagy, disrupted Ca2+ handling, and defects in neuronal and cardiomyocyte function; in humans these mutations cause dominant and recessive disease including dilated cardiomyopathy, optic atrophy, and encephalopathy (PMID:20585624, PMID:27145208, PMID:27328748, PMID:28969390, PMID:40269254). In yeast, Vps1 additionally executes fission in endocytosis, Golgi-to-vacuole and endosomal recycling traffic, and Atg9 delivery for autophagy, using PI(4,5)P2-binding inserts, Pho85 phosphorylation, and partners such as Rvs167, Mvp1, and clathrin (PMID:20841380, PMID:24567361, PMID:26711254, PMID:31009484, PMID:37060997).

Mechanistic history

Synthesis pass · year-by-year structured walk · 22 steps
  1. 1992 High

    Established that the founding ortholog is a bona fide GTPase whose N-terminal catalytic domain and C-terminal sorting-association domain are functionally separable, defining the enzymatic and modular architecture of the family.

    Evidence In vitro GTP binding/hydrolysis assays with hydroxylamine mutagenesis and deletion analysis in yeast Vps1

    PMID:1429836

    Open questions at the time
    • Did not resolve how GTP hydrolysis is mechanically coupled to membrane fission
    • No structural model of the active site
  2. 1995 High

    Showed the protein is required for vesicle formation in membrane traffic, linking GTPase activity to a specific transport step rather than a generic role.

    Evidence Genetic epistasis with temperature-sensitive mutants and protease-protection assays, plus a multicopy suppressor (Mvp1) screen in yeast

    PMID:7698993 PMID:7862158

    Open questions at the time
    • Membrane scission step not directly visualized
    • Receptor for membrane recruitment unidentified
  3. 1998 Medium

    Cloned the human gene and revealed tissue-specific alternative splice forms, establishing the conserved dynamin-family identity and isoform diversity of mammalian DNM1L.

    Evidence cDNA cloning, overexpression localization microscopy, and Northern blot of splice variants

    PMID:9422767

    Open questions at the time
    • Endogenous localization not determined (overexpression only)
    • Functional consequences of each splice form unknown
  4. 2010 High

    Established DNM1L as essential for mitochondrial and peroxisomal morphology in mammals and linked a stalk-domain mutation to dominant cardiomyopathy with bioenergetic failure.

    Evidence ENU mutagenesis C452F mouse, yeast two-hybrid, organelle morphology, respiratory chain enzyme and ATP assays

    PMID:20585624

    Open questions at the time
    • Precise intramolecular interaction disrupted not structurally defined
    • Mechanism connecting fission loss to ATP depletion not isolated
  5. 2010 High

    Defined the yeast ortholog's role in endocytic membrane scission and showed domain-specific separation of fission functions, generalizing the protein's fission activity beyond Golgi traffic.

    Evidence Live-cell imaging, EM, particle tracking, and GTPase/GED/self-assembly domain mutants in vps1-null cells

    PMID:20189679 PMID:20841380

    Open questions at the time
    • How distinct domains partition between functions not fully mapped
    • Recruitment to endocytic sites mechanistically unresolved at this stage
  6. 2011 High

    Identified the amphiphysin Rvs167 partner and demonstrated that self-assembly drives the scission step, mechanistically tying oligomerization to membrane pinching.

    Evidence Reciprocal Co-IP, SH3-motif mutagenesis, in vitro oligomer disassembly, and EM of elongated invaginations in self-assembly-defective I649K mutant

    PMID:21509199 PMID:22082017

    Open questions at the time
    • Whether Rvs167-mediated disassembly applies to mitochondrial fission unknown
    • Quantitative coupling of assembly to GTPase rate not measured here
  7. 2013 Medium

    Extended the fission function to endosome-to-vacuole and endosome-to-Golgi recycling traffic, establishing the protein as a general membrane-trafficking fission factor in yeast.

    Evidence FM4-64 pulse-chase, GFP-marker localization, synthetic lethality with ESCRT genes, and GFP-Snc1 recycling assays with domain mutants

    PMID:23385815 PMID:24219288

    Open questions at the time
    • Direct fission events at these compartments not visualized
    • Relationship to HOPS/GARP integrity correlative
  8. 2014 High

    Established a receptor-mediated recruitment paradigm in which SNX-BAR proteins (Mvp1) target the GTPase to endosomal tubules and retromer/Rab7 cooperate for cargo retrieval.

    Evidence In vitro membrane remodeling, in vivo recruitment, null-mutant cargo export assays, and in vitro vacuole recycling assays

    PMID:24567361 PMID:25512334

    Open questions at the time
    • Whether analogous adaptor logic operates at mitochondria not addressed here
    • Stoichiometry of recruitment unresolved
  9. 2014 Low

    Linked mammalian DNM1L to a motor-adaptor (KLC1) raising the possibility of coordination between fission and organelle transport.

    Evidence Yeast two-hybrid against KLC1 TPR domains and co-localization in cultured cells

    PMID:25082190

    Open questions at the time
    • No functional validation of a transport role (interaction only)
    • No reciprocal biochemical confirmation in mammalian cells
    • KIF5 not involved, leaving transport mechanism unclear
  10. 2015 High

    Identified phospho-regulation of scission (Pho85/Ser599 in yeast) and the synergy between fission and Parkin-dependent mitophagy, embedding the GTPase in mitochondrial quality-control circuits.

    Evidence In vitro kinase and phosphomimetic mutant analysis with EM/imaging (Vps1); Dnm1l/Park2 double-mutant mouse epistasis

    PMID:25715097 PMID:26711254

    Open questions at the time
    • Whether yeast Ser599 corresponds to a mammalian regulatory site not established
    • Molecular trigger for mitophagy dependence on fission loss unresolved
  11. 2016 Medium

    Defined human disease alleles across domains and showed graded dominant-negative impairment of oligomerization and recruitment correlating with phenotype severity.

    Evidence Patient fibroblast morphology, oligomerization and fission assays, respiratory chain activity, and yeast complementation for R403C, G362S, and biallelic variants

    PMID:26992161 PMID:27145208 PMID:27328748

    Open questions at the time
    • Structural basis of variant-specific assembly defects not resolved at this stage
    • Tissue selectivity of phenotypes unexplained
  12. 2017 High

    Established that DNM1L abundance is set by autophagy-dependent turnover via AMPK and the SQSTM1/p62 receptor, and that MTFP1 acts upstream to promote mitochondrial accumulation.

    Evidence Reciprocal SQSTM1-DNM1L Co-IP with AMPK KO, ATG7/rapamycin/chloroquine interventions; MTFP1 knockdown/overexpression in cardiomyocytes

    PMID:28085543 PMID:28643438

    Open questions at the time
    • Ubiquitin-ligase generating the degron not identified here
    • How MTFP1 promotes accumulation mechanistically undefined
  13. 2017 Medium

    Demonstrated that fission loss impairs respiration, forces a glycolytic shift, and accelerates aging in neural stem cells and is required for mitochondrial integrity in optic nerve.

    Evidence Dnm1l knockout NSCs with metabolic flux and self-renewal assays; patient fibroblasts and Dnm1l+/- mouse retinal ganglion cell analysis

    PMID:28969390 PMID:34573276

    Open questions at the time
    • Causal chain from fission loss to metabolic reprogramming not dissected
    • Neuron-specific vulnerability mechanism unknown
  14. 2019 Medium

    Placed DNM1L-driven fission upstream of inflammatory AKT/IKK/NF-kB signaling, linking organelle dynamics to immune/inflammatory output.

    Evidence siRNA and mdivi-1 inhibition with signaling western blots, cytokine measurement, and CIA mouse model in synoviocytes

    PMID:31755231

    Open questions at the time
    • Mechanism connecting membrane potential change to NF-kB activation not defined
    • Off-target effects of mdivi-1 not excluded
  15. 2020 High

    Provided the structural and catalytic mechanism by which GTPase-dead alleles act dominant-negatively, showing the K42A mutation traps assembled oligomers without losing nucleotide binding.

    Evidence Crystal structure of K42A, nucleotide-binding and GTPase assays, and in vivo imaging of trapped assemblies for Vps1 and Dnm1

    PMID:31981262

    Open questions at the time
    • How active-site disorganization arrests the assembly cycle in real time unresolved
    • Generalization to all P-loop disease variants not tested
  16. 2020 Medium

    Connected DNM1L-Ser616/MAPK-ERK phosphorylation to mitophagy execution, showing fission signaling acts upstream of mitochondrial clearance.

    Evidence siRNA knockdown, photoactivatable mito-PAmCherry flow cytometry mitophagy assay, and phospho-Ser616/ERK western blots in LRRK2 mutant cells

    PMID:33300446

    Open questions at the time
    • Direct kinase responsible for Ser616 in this context not isolated
    • Whether fission per se or DNM1L signaling drives mitophagy not separated
  17. 2022 High

    Resolved how assembly-state information is transmitted to the GTPase domain and how domain-specific human variants impair distinct steps, with an Arg710Gly variant uncoupling assembly from assembly-stimulated hydrolysis.

    Evidence In vitro recombinant human DRP1 oligomerization and GTPase assays across four de novo variants plus patient fibroblast morphology

    PMID:35914810

    Open questions at the time
    • Full structural path of the assembly-to-catalysis signal not mapped
    • Why stalk variants disproportionately affect peroxisomal recruitment unresolved
  18. 2023 High

    Defined organelle-specific and pathway-specific recruitment determinants: a dedicated peroxisomal receptor (Pex27) and a role in Atg9 delivery for autophagy in yeast.

    Evidence Co-IP, genetic epistasis (pex27 vs dnm1), GTPase-dead recruitment assays, Atg9 localization and autophagic flux in vps1 mutants

    PMID:36825558 PMID:37060997

    Open questions at the time
    • Mammalian equivalent of Pex27 not identified here
    • How GTPase activity enables Atg9 trafficking mechanistically open
  19. 2023 Low

    Extended phospho- and disease-context regulation to cancer, with BCL2L13 targeting Ser616 to promote fission-driven mitophagy and tumor progression.

    Evidence Target identification, mitochondrial morphology and mitophagy flux assays, and proliferation/invasion models in glioblastoma

    PMID:37660127

    Open questions at the time
    • Biochemical interaction method not precisely defined
    • Single lab without reciprocal validation
  20. 2025 Medium

    Established a regulatory hierarchy in which a PPA2-MTFP1 module activates Ser616 phosphorylation and translocation, directing midzone (MFF) versus peripheral (FIS1) fission depending on stress state, and identified USP3 as a deubiquitinase that stabilizes DNM1L.

    Evidence Co-IP, MTFP1 knockdown, phospho-DNM1L western blots, CCCP stress fission assays; USP3-DNM1L Co-IP with K48 ubiquitin-linkage analysis and xenografts

    PMID:40197257 PMID:40873007

    Open questions at the time
    • Whether PPA2 acts as a phosphatase or scaffold here not clarified
    • E3 ligase opposing USP3 not identified
  21. 2025 Medium

    Clarified isoform-dependent regulation, showing the A-insert/B-insert region negatively tunes fission activity and that exon-skipping variants alter mitochondrial network state and tumor/apoptotic behavior.

    Evidence Functional rescue in Drp1-KO MEFs with isoform-specific constructs and long-read sequencing; selective siRNA against exon-16-lacking transcript with metabolic and tumor assays (preprint)

    PMID:37790404 PMID:42053410

    Open questions at the time
    • Structural basis for insert-mediated inhibition not resolved
    • Tissue distribution of functional isoforms not mapped
  22. 2025 Medium

    Demonstrated tissue-level consequences of fission loss in disease-relevant human and mouse models: bioenergetic and contractile failure in cardiomyocytes, synaptic maturation defects in neurons, and fusion-dependent liver injury and tumorigenesis.

    Evidence hiPSC cardiomyocytes (Seahorse, Ca2+ and contractility imaging); iPSC cortical neurons (axonal transport, transcriptomics, calcium, super-resolution); liver-specific Dnm1l KO and Dnm1l/Mfn1/Mfn2 triple-KO mice (preprint)

    PMID:40269254 PMID:40873007

    Open questions at the time
    • cGAS-STING activation mechanism downstream of fission loss not fully causal
    • How hyperfusion specifically drives synaptic and contractile deficits unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How DNM1L recruitment receptors, phosphorylation events, ubiquitin turnover, and isoform composition are integrated to set fission rate at specific organelles and tissues in mammals remains unresolved.
  • No unified quantitative model linking assembly, GTP hydrolysis, and receptor occupancy to fission output
  • Mammalian counterpart of the Pex27 peroxisomal receptor not identified in this corpus
  • E3 ligase generating the degron antagonized by USP3 unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0003924 GTPase activity 4 GO:0005198 structural molecule activity 3 GO:0008289 lipid binding 1
Localization
GO:0005739 mitochondrion 4 GO:0005768 endosome 3 GO:0005777 peroxisome 3 GO:0005794 Golgi apparatus 2 GO:0005829 cytosol 1
Pathway
R-HSA-1643685 Disease 5 R-HSA-9612973 Autophagy 4 R-HSA-1852241 Organelle biogenesis and maintenance 3 R-HSA-5653656 Vesicle-mediated transport 3
Partners
ATG9CHC1MTFP1MVP1PEX27RVS167SQSTM1USP3

Evidence

Reading pass · 45 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
1992 VPS1 (yeast ortholog of DNM1L) encodes a GTPase that binds and hydrolyzes GTP; the N-terminal domain provides GTP-binding/hydrolysis activity required for vacuolar protein sorting, while the C-terminal domain mediates association with sorting apparatus components; dominant-negative mutations mapped exclusively to the N-terminal half, and recessive mutations produced truncated/unstable proteins. In vitro GTP binding/hydrolysis assay, hydroxylamine mutagenesis, deletion analysis, subcellular fractionation The Journal of cell biology High 1429836
1993 Vps1p associates with the membrane fraction in subcellular fractionation experiments; the C-terminal half of Vps1p is important for this membrane association. Subcellular fractionation Ciba Foundation symposium Medium 8299420
1995 Vps1p (yeast DNM1L ortholog) is an 80-kDa GTPase associated with the Golgi apparatus and is required for retention of late Golgi membrane proteins; in vps1Δ cells, Golgi and vacuolar membrane proteins are re-routed to the plasma membrane via the secretory pathway rather than the prevacuolar compartment, demonstrating Vps1p is required for vesicle formation from the late Golgi toward the prevacuolar compartment. Genetic epistasis (vps1Δ sec4-ts and vps1Δ end4-ts double mutants), protease protection assay, temperature-sensitive mutant analysis The Journal of cell biology High 7698993
1995 MVP1 genetically interacts with VPS1; overproduction of Mvp1p suppresses multiple dominant vps1 alleles in a wild-type Vps1p-dependent manner, and Mvp1p co-localizes with Vps1p at late Golgi/prevacuolar compartments, indicating they act in concert to promote membrane traffic to the vacuole. Multicopy suppressor screen, genetic epistasis, fluorescence co-localization Molecular and cellular biology Medium 7862158
1997 A dominant-negative Vps1p A293D point mutation (downstream of the GTP-binding motif) causes missorting of carboxypeptidase Y; expression of wild-type Vps1p partially suppresses this, consistent with competition for a shared sorting factor binding site. Point mutagenesis, CPY sorting assay, dominant-negative complementation Biological chemistry Medium 9372190
1998 Human DYMPLE (DNM1L/DRP1) was cloned; it encodes an 80-kDa dynamin-family GTPase lacking a proline-rich C-terminal domain; overexpressed wild-type protein shows a punctate perinuclear cytoplasmic pattern, while an N-terminal deletion mutant forms large aggregates bounded by a trans-Golgi network marker; three tissue-specific alternative splice forms produce in-frame deletions. cDNA cloning, overexpression with subcellular localization by fluorescence microscopy, Northern blot for splice variants The Journal of biological chemistry Medium 9422767
2010 A C452F missense mutation in the M (middle/stalk) domain of mouse Dnm1l causes dominant dilated cardiomyopathy; heterozygous mutant fibroblasts show abnormal mitochondrial and peroxisomal morphology; hearts show reduced mitochondrial enzyme complexes and ATP depletion; homozygosity is embryonic lethal; the mutation alters protein–protein interactions in a yeast two-hybrid assay, suggesting disrupted intramolecular interactions within the Dnm1l monomer. ENU mutagenesis screen, yeast two-hybrid protein interaction assay, mitochondrial morphology (fluorescence microscopy), enzymatic activity assays for respiratory chain complexes, ATP measurement PLoS genetics High 20585624
2010 Yeast Vps1 transiently localizes to endocytic sites and facilitates endocytic membrane invagination; the C-terminal self-assembly domain is required for endocytic function but not for other membrane fission events (e.g., Golgi-to-vacuole sorting). Live-cell imaging of endocytic reporters, electron microscopy, biochemical approaches, domain-mutant analysis Journal of cell science High 20841380
2010 Loss of Vps1 disrupts assembly and maturation of endocytic vesicles at the plasma membrane (increased lifespan of cortical endocytic complexes), impairs directed post-internalization vesicle motility toward the vacuole, and causes severe disruption of actin cables; both the GTPase and GED domains are required for endocytic function. Time-lapse fluorescence live-cell imaging with particle tracking, GFP-tagged endocytic markers in vps1 null cells European journal of cell biology Medium 20189679
2011 Vps1 and the amphiphysin Rvs167 interact via Vps1's single type I SH3-binding motif and the Rvs167 SH3 domain; this interaction is specifically required for endocytic scission but not for other Vps1 membrane functions; in vitro, the Rvs161/Rvs167 heterodimer can disassemble Vps1 oligomers. Co-immunoprecipitation, in vitro oligomer disassembly assay, site-directed mutagenesis of SH3-binding motif, live-cell imaging, electron microscopy Traffic (Copenhagen, Denmark) High 22082017
2011 The self-assembly-defective Vps1 I649K mutation causes formation of elongated endocytic invaginations (equivalent to I690K in human Dyn1), demonstrating that Vps1 self-assembly and consequent GTPase stimulation are critical for the vesicle scission/pinching-off step of endocytosis. Electron microscopy of endocytic invaginations in cells expressing Vps1-I649K Communicative & integrative biology Medium 21509199
2013 Vps1 localizes to late endosomes and is required for efficient late endosome-to-vacuole transport; loss of Vps1 disrupts HOPS tethering complex integrity by mislocalizing Vps39 to the cytoplasm; double mutants of VPS1 with individual ESCRT I, II, or III genes show synthetic lethality. Fluorescence microscopy (FM4-64 pulse-chase, GFP-tagged markers), subcellular localization analysis, genetic epistasis (synthetic lethality) Journal of biosciences Medium 23385815
2013 Vps1 functions in early endosome-to-late Golgi recycling of GFP-Snc1; the GTPase and GED domains of Vps1 are essential for this recycling function; loss of Vps1 also causes Vps51 (GARP component) mislocalization from the late Golgi and severe disruption of actin cables. Fluorescence microscopy of GFP-Snc1, genetic interaction analysis, domain mutant analysis Biochemistry and cell biology Medium 24219288
2014 Vps1 promotes fission of retromer SNX-BAR-coated tubules from yeast endosomes; Mvp1 (SNX8 homolog) recruits Vps1 to the endosome in vivo and has potent membrane-remodeling activity in vitro; cargo export completely fails in vps1-null cells but is only delayed in mvp1-null cells. In vitro membrane remodeling assay (Mvp1), in vivo Vps1 endosomal localization, cargo export assays in null mutants The Journal of cell biology High 24567361
2014 Retromer, Vps1, and the Rab7 GTPase Ypt7 cooperate to retrieve transmembrane receptor Vps10 from vacuoles; retromer and Vps1 leave the vacuole with the cargo while Ypt7 remains, indicating Ypt7 has a regulatory role; both retromer and Vps1 are essential for vacuole membrane organization. In vitro vacuole recycling assay, cargo co-fractionation, fluorescence microscopy Journal of cell science Medium 25512334
2014 DNM1L (DRP1) interacts with kinesin light chain 1 (KLC1) through KLC1's tetratricopeptide repeat (TPR) domains but not with KIF5; DNM1L and KLC1 co-localize in cultured cells, suggesting KLC1 may participate in post-fission mitochondrial transport. Yeast two-hybrid screening, co-localization by fluorescence microscopy in cultured cells Bioscience, biotechnology, and biochemistry Low 25082190
2015 Vps1 is phosphorylated at serine 599 by the cyclin-associated kinase Pho85 in vivo and in vitro; phosphomimetic (S599D) and non-phosphorylatable (S599V) mutations selectively impair endocytic scission without affecting other Vps1 functions; S599V inhibits the interaction with Rvs167, while both S599 mutations cause defects in vesicle scission visualized by live imaging and EM. In vitro kinase assay (Pho85), phosphoproteomics confirmation, site-directed mutagenesis, live-cell imaging, electron microscopy of endocytic invaginations, co-immunoprecipitation Molecular and cellular biology High 26711254
2015 In the absence of DNM1L/Drp1, PARK2/Parkin-dependent mitophagy becomes critical for maintaining mitochondrial function and structural integrity in the mouse heart and brain, establishing a synergistic relationship between mitochondrial fission and mitophagy. Mouse genetic knockout/epistasis (Dnm1l and Park2 double mutant), mitochondrial functional and structural analysis Autophagy Medium 25715097
2016 DNM1L R403C mutation in the middle/assembly domain acts by a dominant-negative mechanism, reducing DRP1 oligomerization, mitochondrial fission activity, and mitochondrial recruitment of DRP1, but to a lesser extent than the A395D lethal variant; this establishes that milder DRP1 oligomerization impairment correlates with later-onset disease. Patient fibroblast studies, fluorescence microscopy of mitochondrial morphology, assessment of DRP1 oligomerization, mitochondrial fission assays American journal of medical genetics. Part A Medium 27145208
2016 De novo heterozygous DNM1L G362S mutation (in the assembly/middle domain) acts as a dominant-negative, causing markedly impaired mitochondrial fission, partial respiratory chain defect (complex IV), and normal peroxisomal morphology in patient fibroblasts; human fibroblasts overexpressing the mutant gene recapitulate aberrant mitochondrial morphology. Patient fibroblast fluorescence microscopy, respiratory chain activity assay, overexpression of mutant DNM1L American journal of medical genetics. Part A Medium 26992161
2016 Biallelic (compound heterozygous) DNM1L variants cause recessive disease with impaired fission of both mitochondria and peroxisomes (abnormally elongated mitochondria and aberrant peroxisomes in patient fibroblasts); pathogenicity validated in a yeast model. Fluorescence microscopy of patient fibroblasts, yeast functional complementation model Human mutation Medium 27328748
2017 DNM1L knockout neural stem cells (Dnm1l-/- NSCs) show elongated mitochondria, reduced mitochondrial respiratory capacity, metabolic shift to glycolysis, impaired self-renewal, and accelerated cellular aging; PARK2/Parkin becomes critical when DNM1L is absent in mouse heart and brain. Dnm1l knockout ESC-derived NSCs, mitochondrial morphology assessment, metabolic flux analysis, self-renewal assays International journal of molecular sciences (2023) / Autophagy (2015) Medium 25715097 34573276
2017 Dominant mutations in DNM1L in patients with isolated optic atrophy lead to homo-polymerization of DNM1L and formation of cytoplasmic aggregates on highly tubulated mitochondrial networks; Dnm1l+/- mice show increased mitochondrial length in retinal ganglion cell soma and axons, establishing DNM1L as required for mitochondrial fission in the optic nerve. Patient fibroblast analysis, fluorescence microscopy of mitochondrial network, mouse retinal ganglion cell analysis (Dnm1l+/- mouse) Brain : a journal of neurology Medium 28969390
2017 PRKAA (AMPKα) regulates DNM1L protein levels via autophagy-dependent degradation; loss of PRKAA causes defective autophagy, DNM1L accumulation, and aberrant mitochondrial fragmentation; the autophagy receptor SQSTM1/p62 binds DNM1L and mediates its delivery to autophagosomes for lysosomal degradation. Mouse aortic endothelium knockout models, siRNA knockdown, co-immunoprecipitation (SQSTM1-DNM1L), ATG7 overexpression, rapamycin/chloroquine treatment Autophagy High 28085543
2017 Mtfp1 (mitochondrial fission protein 1) acts upstream of Dnm1l to promote its accumulation at mitochondria; knockdown of Mtfp1 prevents Dnm1l mitochondrial accumulation and reduces doxorubicin-induced mitochondrial fission and apoptosis in cardiac myocytes; Mtfp1 overexpression enhances fission. siRNA knockdown, overexpression, fluorescence microscopy of mitochondrial morphology, cell death assays in HL-1 cardiomyocytes Journal of cellular and molecular medicine Medium 28643438
2017 Vps1 associates with clathrin heavy chain (Chc1) via the C-terminal region of Chc1; Vps1 arrives at the Golgi after clathrin; loss of Vps1 shifts clathrin localization to late endosome/vacuole; double vps1Δ chc1Δ cells show more severe CPY sorting defects than either single mutant. Yeast two-hybrid, genetic epistasis (double mutant CPY sorting), fluorescence microscopy of clathrin localization European journal of cell biology Medium 28256270
2018 Crystal structures of Vps1 GTPase-BSE fusion reveal GTP hydrolysis intermediates and conformational changes; cryo-EM structure of full-length GMPPCP-bound Vps1 shows a more open and flexible helical architecture than dynamin, due to BSE opening away from GTPase domains and formation of a novel inter-GTPase domain interface instead of BSE-stalk contacts; disruption of this novel interface abolishes Vps1 function in vivo. X-ray crystallography (GTPase-BSE fusion, multiple nucleotide states), cryo-EM (full-length Vps1), in vivo mutagenesis of novel interface The Journal of cell biology High 30087125
2019 In HCC cells under hypoxia, DNM1L translocates to mitochondria (without changing total DNM1L levels), inducing excessive mitochondrial fission; DNM1L interacts with hexokinase 2 (HK2) and is involved in HK2 phosphorylation, causing HK2 detachment from mitochondria and consequent mitochondrial permeability transition pore (mPTP) opening. [Note: this paper was subsequently retracted (PMID 33907822) due to use of wrong cell line; the finding should be treated with very low confidence.] Co-immunoprecipitation (DNM1L-HK2), immunofluorescence, mitochondrial membrane potential assay — NOTE: retracted Oncology reports Low 31322265 33907822
2019 Inhibition of DNM1L in rheumatoid arthritis fibroblast-like synoviocytes impairs mitochondrial fission, reduces mitochondrial membrane potential, decreases AKT/IKK activation, inhibits NF-κB p65 nuclear translocation, and reduces IL-8 and COX-2 production, placing DNM1L upstream of AKT/IKK/NF-κB inflammatory signaling. DNM1L siRNA knockdown, mdivi-1 pharmacological inhibition, fluorescence microscopy, western blot for signaling pathway components, cytokine measurement, CIA mouse model Journal of cellular and molecular medicine Medium 31755231
2019 Vps1 Insert B region binds directly to lipids, preferentially PI(4,5)P2; mutation of three lysine residues (KKK-AAA) in Insert B reduces lipid binding, selectively disrupts endocytic scission (increased lifetime of endocytic reporter Sla2, defective scission events) without affecting other Vps1 functions. In vitro lipid-binding assay, site-directed mutagenesis, live-cell imaging of endocytic reporters, fluorescence localization PloS one Medium 31009484
2020 The P-loop K42A mutation in Vps1 abrogates GTPase activity by disrupting organization of the GTPase active site (not nucleotide binding affinity); in cells, Vps1-K42A and Dnm1-K42A become trapped in assembled oligomeric states at their typical sites of action, explaining the dominant-negative mechanism. Biophysical nucleotide-binding assays, GTPase activity assays, crystal structure of K42A mutant, in vivo fluorescence microscopy of trapped assemblies Protein science High 31981262
2020 DNM1L knockdown in mouse embryonic fibroblasts slows mitochondrial clearance (measured by photoactivatable mito-PAmCherry flow cytometry); impaired DNM1L-Ser616 and MAPK/ERK phosphorylation in LRRK2R1441G mutant cells attenuates mitochondrial fission and downstream mitophagy, placing DNM1L-MAPK/ERK signaling upstream of mitophagy. DNM1L siRNA knockdown, flow cytometry of photoactivatable mito-PAmCherry, western blot for DNM1L-pSer616 and MAPK/ERK phosphorylation, FCCP-induced stress Autophagy Medium 33300446
2021 Mvp1 (SNX8 homolog) mediates endosomal recycling by deforming endosomal membrane and sorting cargo with a specific motif into tubules, then recruiting Vps1 to catalyze membrane scission and release the recycling tubule; this constitutes a mechanistically distinct pathway from retromer and Snx4 pathways. In vivo Vps1 recruitment assay, cargo sorting assays in null mutants, membrane tubulation analysis eLife Medium 34524084
2022 Four distinct de novo DNM1L variants in different domains impair DRP1 function by divergent mechanisms: stalk domain variants show greater impairments in oligomerization, peroxisomal recruitment, and hyperfusion than GTPase domain variants; a novel p.Arg710Gly variant uncouples DRP1 assembly from assembly-stimulated GTP hydrolysis, revealing that assembly-state information is transmitted to the GTPase domain. In vitro recombinant human DRP1 mutant characterization (oligomerization assays, GTPase activity), patient fibroblast mitochondrial/peroxisomal morphology Life science alliance High 35914810
2023 Vps1 interacts with Atg9 at Atg9 reservoirs; in the absence of Vps1 or its GTPase activity, Atg9 fails to reach the phagophore assembly site, severely impairing autophagic flux; Vps1 oligomerization activity is also required for this autophagy function. Co-immunoprecipitation (Vps1-Atg9), fluorescence microscopy of Atg9 localization in vps1Δ and GTPase-dead mutants, autophagic flux assays The Journal of biological chemistry High 37060997
2023 Pex27 specifically mediates Vps1-dependent peroxisome fission (but not Dnm1-dependent fission); Pex27 physically interacts with Vps1 in vivo, accumulates at constricted peroxisomal regions, and is required for accumulation of GTPase-dead Vps1-K42A on peroxisomes, indicating Pex27 is a Vps1-specific peroxisomal receptor. Co-immunoprecipitation (Pex27-Vps1), fluorescence microscopy of peroxisome morphology, genetic epistasis (pex27Δ vs dnm1Δ), GTPase-dead mutant recruitment assay Journal of cell science High 36825558
2023 BCL2L13 targets DNM1L at Ser616, promoting mitochondrial fission and elevated mitophagy flux in glioblastoma cells; this mechanism promotes GBM proliferation and invasion. Co-immunoprecipitation-like target identification, fluorescence microscopy of mitochondrial morphology, mitophagy flux assays, in vitro and in vivo proliferation/invasion assays Cell death & disease Low 37660127
2023 DNM1L knockout in mouse embryonic stem cell-derived neural stem cells causes elongated mitochondria, reduced respiratory capacity, metabolic shift to glycolysis, impaired self-renewal, accelerated cellular aging, elevated inflammation markers, and increased cell death. Dnm1l knockout ESC-derived NSCs, mitochondrial morphology fluorescence microscopy, metabolic flux (Seahorse), self-renewal and proliferation assays International journal of molecular sciences Medium 37762596
2025 PPA2 interacts with MTFP1 (inner mitochondrial membrane protein) to activate DNM1L Ser616 phosphorylation and mitochondrial translocation; MTFP1 knockdown abolishes PPA2-induced DNM1L activation; in physiological conditions PPA2 directs midzone fission via MFF-DNM1L, while under mitochondrial stress PPA2 drives peripheral fission via FIS1-DNM1L for mitophagy. Co-immunoprecipitation (PPA2-MTFP1), siRNA knockdown of MTFP1, phospho-DNM1L western blot, fluorescence microscopy of mitochondrial morphology, CCCP stress assays Autophagy Medium 40873007
2025 USP3, a deubiquitinating enzyme, directly interacts with DNM1L and specifically cleaves K48-linked polyubiquitin chains, deubiquitinating and stabilizing DNM1L protein; elevated USP3-mediated DNM1L stabilization promotes mitochondrial fission and GBC progression. Co-immunoprecipitation (USP3-DNM1L), ubiquitin chain linkage analysis, cell-derived xenograft assays Biology direct Medium 40197257
2025 DNM1L mutations impair mitochondrial fission in hiPSC-derived cardiomyocytes, causing elongated mitochondria, reduced mitochondrial membrane potential, decreased oxygen consumption and ATP production, prolonged Ca2+ decay time, and impaired contractile/diastolic function under isoproterenol stimulation. hiPSC-derived cardiomyocytes from DNM1L-mutant patients, mitochondrial morphology fluorescence microscopy, Seahorse metabolic flux, Ca2+ imaging, high-precision live contractility imaging Pediatric research Medium 40269254
2025 DNM1L-isoforms lacking the A-insert (exon 3) robustly rescue mitochondrial fission in Drp1-knockout fibroblasts, while isoforms containing exon 3 show only partial rescue, indicating that the B-insert (exon 2/3) region negatively regulates DNM1L fission activity; isoform abundance does not predict enzymatic activity. Functional rescue in Drp1-knockout mouse embryonic fibroblasts, long-read targeted sequencing for isoform characterization, GTPase/fission activity assays The FEBS journal Medium 42053410
2025 Liver-specific Dnm1l knockout mice develop hepatic fibrosis, DNA damage, senescence, and spontaneous hepatocellular adenomas by 12–18 months; activated cGAS-STING-interferon pathway and increased pyrimidine synthesis were identified as downstream consequences; additional deletion of Mfn1/Mfn2 in Dnm1l-KO mice abolished liver injury, fibrosis, and tumorigenesis, showing that liver pathology requires mitochondrial fusion in the absence of fission. Liver-specific Dnm1l knockout mouse model, triple KO (Dnm1l/Mfn1/Mfn2), RNA sequencing, metabolomics, histology bioRxivpreprint Medium
2024 A DNM1L splice variant lacking exon 16 of the variable domain decreases DRP1 association with mitochondrial fission sites, promotes fused mitochondrial networks and enhanced respiration, abrogates mitochondrial fission in response to pro-apoptotic stimuli, and reduces chemotherapy sensitivity; specific siRNA targeting this transcript reverses these pro-tumorigenic effects. siRNA-mediated selective knockdown of exon-16-lacking transcript, live-cell mitochondrial morphology imaging, Seahorse metabolic assays, in vitro and in vivo tumor models bioRxivpreprint Medium 37790404
2024 Patient-derived iPSC cortical neurons with DRP1 mutations show mutation-specific changes in mitochondrial motility (axonal transport of hyperfused mitochondria), altered synaptic development gene expression, disrupted calcium dynamics, and deficits in pre/post-synaptic marker colocalization, indicating that DRP1 function is required for normal synaptic maturation. iPSC-derived cortical neurons, high-resolution time-lapse axonal transport imaging, transcriptional profiling, live calcium imaging, super-resolution microscopy of synaptic markers bioRxivpreprint Medium

Source papers

Stage 0 corpus · 88 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
1992 The VPS1 protein, a homolog of dynamin required for vacuolar protein sorting in Saccharomyces cerevisiae, is a GTPase with two functionally separable domains. The Journal of cell biology 188 1429836
1995 Golgi and vacuolar membrane proteins reach the vacuole in vps1 mutant yeast cells via the plasma membrane. The Journal of cell biology 157 7698993
2010 A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy. PLoS genetics 119 20585624
2016 A novel de novo dominant negative mutation in DNM1L impairs mitochondrial fission and presents as childhood epileptic encephalopathy. American journal of medical genetics. Part A 116 27145208
2017 Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission. Brain : a journal of neurology 101 28969390
2010 A role for the dynamin-like protein Vps1 during endocytosis in yeast. Journal of cell science 93 20841380
2020 Aberrant mitochondrial morphology and function associated with impaired mitophagy and DNM1L-MAPK/ERK signaling are found in aged mutant Parkinsonian LRRK2R1441G mice. Autophagy 86 33300446
2016 Postnatal microcephaly and pain insensitivity due to a de novo heterozygous DNM1L mutation causing impaired mitochondrial fission and function. American journal of medical genetics. Part A 83 26992161
1995 The Saccharomyces cerevisiae MVP1 gene interacts with VPS1 and is required for vacuolar protein sorting. Molecular and cellular biology 70 7862158
2014 Fission of SNX-BAR-coated endosomal retrograde transport carriers is promoted by the dynamin-related protein Vps1. The Journal of cell biology 68 24567361
2016 Biallelic Mutations in DNM1L are Associated with a Slowly Progressive Infantile Encephalopathy. Human mutation 65 27328748
2008 Candida albicans VPS1 contributes to protease secretion, filamentation, and biofilm formation. Fungal genetics and biology : FG & B 50 18296085
1998 Dymple, a novel dynamin-like high molecular weight GTPase lacking a proline-rich carboxyl-terminal domain in mammalian cells. The Journal of biological chemistry 49 9422767
2014 Retromer and the dynamin Vps1 cooperate in the retrieval of transmembrane proteins from vacuoles. Journal of cell science 48 25512334
2019 Clinical-genetic features and peculiar muscle histopathology in infantile DNM1L-related mitochondrial epileptic encephalopathy. Human mutation 43 30801875
2011 Yeast dynamin Vps1 and amphiphysin Rvs167 function together during endocytosis. Traffic (Copenhagen, Denmark) 43 22082017
2019 Inhibition of DNM1L and mitochondrial fission attenuates inflammatory response in fibroblast-like synoviocytes of rheumatoid arthritis. Journal of cellular and molecular medicine 39 31755231
2017 Knockdown of Mtfp1 can minimize doxorubicin cardiotoxicity by inhibiting Dnm1l-mediated mitochondrial fission. Journal of cellular and molecular medicine 38 28643438
2017 Deletion of PRKAA triggers mitochondrial fission by inhibiting the autophagy-dependent degradation of DNM1L. Autophagy 37 28085543
2010 The yeast dynamin-like protein Vps1:vps1 mutations perturb the internalization and the motility of endocytic vesicles and endosomes via disorganization of the actin cytoskeleton. European journal of cell biology 35 20189679
2023 BCL2L13 promotes mitophagy through DNM1L-mediated mitochondrial fission in glioblastoma. Cell death & disease 33 37660127
2018 De Novo DNM1L Variant in a Teenager With Progressive Paroxysmal Dystonia and Lethal Super-refractory Myoclonic Status Epilepticus. Journal of child neurology 33 29877124
2017 DNM1L Variant Alters Baseline Mitochondrial Function and Response to Stress in a Patient with Severe Neurological Dysfunction. Biochemical genetics 32 29110115
2021 A PX-BAR protein Mvp1/SNX8 and a dynamin-like GTPase Vps1 drive endosomal recycling. eLife 31 34524084
2023 CLU (clusterin) promotes mitophagic degradation of MSX2 through an AKT-DNM1L/Drp1 axis to maintain SOX2-mediated stemness in oral cancer stem cells. Autophagy 30 36779631
2021 DNM1L-Related Mitochondrial Fission Defects Presenting as Encephalopathy: A Case Report and Literature Review. Frontiers in pediatrics 28 34307245
2020 Bezafibrate Improves Mitochondrial Fission and Function in DNM1L-Deficient Patient Cells. Cells 28 32012656
2022 Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms. Life science alliance 22 35914810
2019 Novel and lethal case of cardiac involvement in DNM1L mitochondrial encephalopathy. American journal of medical genetics. Part A 22 31587467
2024 Targeting DNM1L/DRP1-FIS1 axis inhibits high-grade glioma progression by impeding mitochondrial respiratory cristae remodeling. Journal of experimental & clinical cancer research : CR 21 39350223
2013 Vps1 in the late endosome-to-vacuole traffic. Journal of biosciences 21 23385815
2010 Fission yeast Vps1 and Atg8 contribute to oxidative stress resistance. Genes to cells : devoted to molecular & cellular mechanisms 21 20070859
2019 A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy. Neuropediatrics 20 30939602
1993 The VPS1 protein is a dynamin-like GTPase required for sorting proteins to the yeast vacuole. Ciba Foundation symposium 20 8299420
2021 Case Report: A Novel de novo Mutation in DNM1L Presenting With Developmental Delay, Ataxia, and Peripheral Neuropathy. Frontiers in pediatrics 19 33718295
2020 De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy. European journal of medical genetics 17 33387674
2009 The dynamin-related protein Vps1 regulates vacuole fission, fusion and tubulation in the fission yeast, Schizosaccharomyces pombe. Fungal genetics and biology : FG & B 17 19643199
2018 Structures of the fungal dynamin-related protein Vps1 reveal a unique, open helical architecture. The Journal of cell biology 15 30087125
2019 De novo pathogenic DNM1L variant in a patient diagnosed with atypical hereditary sensory and autonomic neuropathy. Molecular genetics & genomic medicine 14 31475481
2013 Vps1, a recycling factor for the traffic from early endosome to the late Golgi. Biochemistry and cell biology = Biochimie et biologie cellulaire 14 24219288
2024 Circ_0098823 binding with IGF2BP3 regulates DNM1L stability to promote metastasis of hepatocellular carcinoma via mitochondrial fission. Apoptosis : an international journal on programmed cell death 13 38459420
2019 A Rasmussen encephalitis, autoimmune encephalitis, and mitochondrial disease mimicker: expanding the DNM1L-associated intractable epilepsy and encephalopathy phenotype. Epileptic disorders : international epilepsy journal with videotape 13 30767894
2015 Phosphorylation Regulates the Endocytic Function of the Yeast Dynamin-Related Protein Vps1. Molecular and cellular biology 13 26711254
2023 The dynamin-related protein Vps1 and the peroxisomal membrane protein Pex27 function together during peroxisome fission. Journal of cell science 10 36825558
2022 Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant. Frontiers in neurology 10 36212643
2021 Focal status and acute encephalopathy in a 13-year-old boy with de novo DNM1L mutation: Video-polygraphic pattern and clues for differential diagnosis. Brain & development 10 33485697
2023 The dynamin Vps1 mediates Atg9 transport to the sites of autophagosome formation. The Journal of biological chemistry 9 37060997
2024 A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review. BMC pediatrics 8 38341530
2015 PARK2/Parkin becomes critical when DNM1L/Drp1 is absent. Autophagy 8 25715097
2021 Pathogenic DNM1L Variant (1085G>A) Linked to Infantile Progressive Neurological Disorder: Evidence of Maternal Transmission by Germline Mosaicism and Influence of a Contemporary in cis Variant (1535T>C). Genes 7 34573276
2020 Structural and functional characterization of the dominant negative P-loop lysine mutation in the dynamin superfamily protein Vps1. Protein science : a publication of the Protein Society 7 31981262
2025 De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review. International journal of molecular sciences 6 39859560
2022 Epilepsia partialis continua associated with the p.Arg403Cys variant of the DNM1L gene: an unusual clinical progression with two episodes of super-refractory status epilepticus with a 13-year remission interval. Epileptic disorders : international epilepsy journal with videotape 6 34787083
2019 Hypoxia‑induced mitochondrial translocation of DNM1L increases mitochondrial fission and triggers mPTP opening in HCC cells via activation of HK2. Oncology reports 6 31322265
2011 Expression of Vps1 I649K a self-assembly defective yeast dynamin, leads to formation of extended endocytic invaginations. Communicative & integrative biology 6 21509199
2024 De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting. International journal of molecular sciences 5 39063023
2017 Yeast dynamin Vps1 associates with clathrin to facilitate vesicular trafficking and controls Golgi homeostasis. European journal of cell biology 5 28256270
2016 Insights into dynamin-associated disorders through analysis of equivalent mutations in the yeast dynamin Vps1. Microbial cell (Graz, Austria) 5 28357347
2014 Dynamin-1-like protein (Dnm1L) interaction with kinesin light chain 1 (KLC1) through the tetratricopeptide repeat (TPR) domains. Bioscience, biotechnology, and biochemistry 5 25082190
2025 PPA2 activates MTFP1-DNM1L fission signaling to govern mitochondrial proliferation and mitophagy. Autophagy 4 40873007
2023 Altered Mitochondrial Function and Accelerated Aging Phenotype in Neural Stem Cells Derived from Dnm1l Knockout Embryonic Stem Cells. International journal of molecular sciences 4 37762596
2025 DNM1L-mediated fission governs mitophagy & mitochondrial biogenesis during myogenic differentiation. Cell communication and signaling : CCS 3 40170111
2025 Cardiac dysfunction due to mitochondrial impairment assessed by human iPS cells caused by DNM1L mutations. Pediatric research 3 40269254
2023 DNM1L variant presenting as adolescent-onset sensory neuronopathy, spasticity, dystonia, and ataxia. Journal of pediatric neurology : JPN 3 38481935
2021 Expression of DDX11 and DNM1L at the 12p11 Locus Modulates Systemic Lupus Erythematosus Susceptibility. International journal of molecular sciences 3 34299244
2000 Spectrum of autoantibodies against a dynamin-related protein, dymple. Arthritis and rheumatism 3 10902754
2025 Deubiquitination of DNM1L by USP3 triggers the development and metastasis of gallbladder carcinoma. Biology direct 2 40197257
2025 Clinical and genetic characterization of DNM1l-related disorders: insights into genotype-phenotype correlations. Frontiers in pediatrics 2 41244260
2023 Metabolic and cell cycle shift induced by the deletion of Dnm1l attenuates the dissolution of pluripotency in mouse embryonic stem cells. Cellular and molecular life sciences : CMLS 2 37747543
2021 [DNM1L gene variant caused encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1: three cases report and literature review]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2 33902225
2021 [Analysis of DNM1L gene variant in a case of fatal encephalopathy caused by mitochondrial peroxidase division deficiency]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2 34487538
2019 Mutation of key lysine residues in the Insert B region of the yeast dynamin Vps1 disrupts lipid binding and causes defects in endocytosis. PloS one 2 31009484
2015 A Charge Swap mutation E461K in the yeast dynamin Vps1 reduces endocytic invagination. Communicative & integrative biology 2 26478779
2024 Alternative splice variants of the mitochondrial fission protein DNM1L/Drp1 regulate mitochondrial dynamics and tumor progression in ovarian cancer. bioRxiv : the preprint server for biology 1 37790404
2023 Evaluating the association between DNM1L variants and Parkinson's disease in the Chinese population. Frontiers in neurology 1 36908591
1997 Cloning and characterization of a dominant-negative vps1 allele of the yeast Saccharomyces cerevisiae. Biological chemistry 1 9372190
2026 Reversibility and therapeutic feasibility of DNM1L-associated neurodevelopmental disorders. Experimental & molecular medicine 0 41786974
2026 Long-read sequencing-based atlas of tissue-specific expression of DNM1L transcript variants. The FEBS journal 0 42053410
2026 Acetylated Vps1 initiates autophagy and regulates the sorting nexin dynamics essential for pathogenicity in Fusarium graminearum. Autophagy 0 42107010
2026 Unraveling Vps1-mediated endolysosomal sorting as a potential target for effective fungal disease control. The New phytologist 0 42170994
2025 The Yeast Parkinson's Disease Model Exhibits An Increase in Peroxisome Number Independent of the Division Proteins Vps1 and Dnm1. Molecular neurobiology 0 40702290
2025 A De Novo DNM1L Mutation in Twins with Variable Symptoms, Including Paraparesis and Optic Neuropathy. Biomolecules 0 41008537
2025 Aberrant Splicing of DNM1L Impairs Cardiac Bioenergetics and Mitochondrial Dynamics in Myotonic Dystrophy Type I (DM1). Circulation. Genomic and precision medicine 0 41212113
2025 Functional identification of two variants in unrelated Chinese patients with DNM1L-related mitochondrial disorders. BMC pediatrics 0 41387803
2023 Generation of a human induced pluripotent stem cell line from a pediatric heart failure patient with de novo DNM1L mutation. Stem cell research 0 37086582
2023 The yeast dynamin-like GTPase Vps1 mediates Atg9 transport to the phagophore assembly site in Saccharomyces cerevisiae. Autophagy reports 0 38107506
2021 [Retracted] Hypoxia‑induced mitochondrial translocation of DNM1L increases mitochondrial fission and triggers mPTP opening in HCC cells via activation of HK2. Oncology reports 0 33907822
2020 Purification of the Dynamin-Related Protein Vps1 Using Mammalian and Bacterial Expression Systems. Methods in molecular biology (Clifton, N.J.) 0 32529360

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