Affinage

DCTN1

Dynactin subunit 1 · UniProt Q14203

Length
1278 aa
Mass
141.7 kDa
Annotated
2026-06-09
52 papers in source corpus 15 papers cited in narrative 14 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

DCTN1 encodes p150Glued, a microtubule-associated component of intracellular transport machinery whose integrity is required for neuronal, neuromuscular, and developmental function across species (PMID:37360176, PMID:24676999, PMID:27132499). Its N-terminal CAP-Gly domain mediates microtubule binding, and disease-associated mutations in this region (p.F52L, p.K56R) reduce microtubule affinity and produce a diffuse or aberrant cytoplasmic distribution rather than the normal thread-like microtubule-associated pattern (PMID:24676999, PMID:27132499, PMID:38267040). DCTN1 binds directly to TDP-43 through multiple regions of the protein, preferentially engaging TDP-43's C-terminal region, and loss or mutation of DCTN1 drives TDP-43 cytoplasmic mislocalization and aggregation; this is reinforced by a role in stress granule dynamics, where DCTN1 deficiency delays granule disassembly and promotes ubiquitin-positive TDP-43 inclusions and neurodegeneration in a Drosophila model (PMID:33924373, PMID:38311779). Wild-type p150Glued is cleared primarily by the ubiquitin-proteasome system, with autophagy serving as a backup route for mutant aggregates when proteasome function is impaired (PMID:31654383). Perry disease CAP-Gly variants are sufficient to cause the disorder: knock-in and transgenic mice carrying the G71A mutation develop parkinsonism-like motor deficits, depression-like behavior, and dopaminergic neuron dysfunction (PMID:29273399, PMID:34508845). Beyond its transport-associated functions, DCTN1 acts upstream of a Cdc42/PAK2 signaling axis required for RANKL-induced osteoclastogenesis (PMID:32210358), and its coiled-coil domain drives oncogenic dimerization and RET kinase activation in the DCTN1-RET fusion (PMID:40155036).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 2010 Medium

    Established that the DCTN1 ortholog functions as a motor adaptor that targets a kinesin to a specific subcellular destination, defining a transport-directing role.

    Evidence Bimolecular fluorescence complementation of the UNC-104/DNC-1 complex in live C. elegans neurons

    PMID:21195138

    Open questions at the time
    • Performed in invertebrate ortholog only
    • Does not establish the human dynein-dynactin partner architecture
    • Adaptor mechanism at axon termini not biochemically resolved
  2. 2011 Medium

    Showed DCTN1 is required in a non-neuronal developmental context, demonstrating its loss produces a quantifiable structural defect in sperm tail formation.

    Evidence In vivo siRNA microinjection into mouse seminiferous tubules with immunofluorescence and sperm morphology analysis

    PMID:21961240

    Open questions at the time
    • Molecular mechanism in spermiogenesis not defined
    • No rescue experiment
    • Link to microtubule transport function not established
  3. 2014 Medium

    Demonstrated that disease-associated CAP-Gly mutations directly weaken DCTN1's core microtubule-binding activity, providing a biochemical basis for pathogenicity.

    Evidence In vitro microtubule-binding/co-sedimentation assays and HEK293 cell localization for p.F52L and p.K56R

    PMID:24676999 PMID:27132499

    Open questions at the time
    • Cellular consequence of reduced microtubule affinity not connected to neuronal phenotype here
    • Overexpression systems used for localization
    • No structural model of mutant CAP-Gly
  4. 2017 Medium

    Showed a single DCTN1 mutation is sufficient to recapitulate Perry syndrome behavioral phenotypes in vivo, but uncoupled the behavior from detectable TDP-43 aggregation.

    Evidence Thy1-driven DCTN1-G71A transgenic mice with behavioral battery and TDP-43 immunohistochemistry

    PMID:29273399

    Open questions at the time
    • TDP-43 aggregates not detected, leaving the molecular driver of behavior unresolved
    • Single transgenic approach
    • Overexpression may not reflect endogenous levels
  5. 2019 Medium

    Defined the clearance routes for DCTN1, establishing the proteasome as the primary degradation pathway and autophagy as an inducible backup for mutant aggregates.

    Evidence Pharmacological proteasome/autophagy inhibition and TFEB overexpression with viability assays in cultured cells

    PMID:31654383

    Open questions at the time
    • E3 ligase and ubiquitination machinery not identified
    • Single lab
    • In vivo relevance of TFEB rescue untested
  6. 2020 High

    Placed DCTN1 upstream of a Cdc42/PAK2 signaling axis required for osteoclast differentiation, revealing a signaling role distinct from transport.

    Evidence siRNA knockdown with constitutively active Cdc42 rescue, Cdc42 activity and caspase-3 assays, and in vivo bone erosion model

    PMID:32210358

    Open questions at the time
    • Mechanism by which DCTN1 activates Cdc42 not defined
    • Direct molecular link between DCTN1 and Cdc42 not shown
    • Connection to dynactin transport function unclear
  7. 2020 Low

    Showed that frameshift/missense mutations redistribute p150Glued away from microtubules, either into nuclear trapping or cytoplasmic aggregates.

    Evidence In vitro transfection of mutant constructs with immunofluorescence and Western blot

    PMID:32023010

    Open questions at the time
    • Overexpression system only, no rescue or functional assay
    • Single lab
    • Pathogenic consequence of mislocalization not tested functionally
  8. 2021 Medium

    Mapped a direct DCTN1–TDP-43 interaction and showed a Perry mutation impairs it, identifying DCTN1 as a regulator of TDP-43 nucleocytoplasmic distribution.

    Evidence Co-immunoprecipitation, truncation mutant pulldown panel, and overexpression immunocytochemistry

    PMID:33924373

    Open questions at the time
    • Interaction mapped in single lab
    • Stoichiometry and direct vs bridged binding not fully resolved
    • Multiple DCTN1 regions bind TDP-43, leaving the critical interface ambiguous
  9. 2021 Medium

    Confirmed with a knock-in model that heterozygous G71A alone causes dopaminergic neuron dysfunction and Perry disease-relevant behavior, strengthening causality at endogenous expression.

    Evidence G71A knock-in mice with behavioral battery and tyrosine hydroxylase immunohistochemistry

    PMID:34508845

    Open questions at the time
    • Molecular pathway from mutation to dopaminergic loss not resolved
    • Single lab
    • TDP-43 pathology status in this model not addressed
  10. 2023 Medium

    Demonstrated that DCTN1 loss disrupts both neuronal and muscle function and alters synaptic gene splicing, linking DCTN1 to synapse organization downstream.

    Evidence Tissue-specific RNAi in Drosophila with behavioral assays, NMJ morphology, and RNA-seq

    PMID:37360176

    Open questions at the time
    • Mechanism linking DCTN1 to splicing changes unknown
    • Invertebrate model
    • Direct vs indirect effect on synaptic genes unresolved
  11. 2024 Medium

    Connected DCTN1-dependent transport to TDP-43 proteostasis, showing DCTN1 deficiency delays stress granule disassembly and drives ubiquitin-positive TDP-43 inclusions and neurodegeneration.

    Evidence siRNA stress granule disassembly assays in cells plus Drosophila genetic knockdown with TDP-43 inclusion immunohistochemistry

    PMID:38311779

    Open questions at the time
    • Whether the effect is via dynein transport or a direct DCTN1 role on granules not separated
    • Single lab
    • Mechanism of delayed disassembly not defined
  12. 2024 Low

    Showed wild-type p150Glued can suppress aggregation of Perry mutants, implying a dominant-negative/sequestration mode of pathogenicity that differs from ALS-linked mutants.

    Evidence Co-overexpression of wild-type and mutant DCTN1 in HEK293T cells with immunofluorescence distribution analysis

    PMID:38267040

    Open questions at the time
    • Single method (ICC) in overexpression system, no biochemical validation
    • Mechanism of suppression not defined
    • Differential rescue of ALS vs Perry mutants unexplained
  13. 2025 Medium

    Revealed an oncogenic function in which the DCTN1 coiled-coil domain drives fusion-protein dimerization to activate RET kinase signaling.

    Evidence CC-domain deletion mutagenesis with kinase/phosphorylation readouts, cell proliferation, and in vivo mouse tumor model with RET inhibitor treatment

    PMID:40155036

    Open questions at the time
    • Endogenous role of the DCTN1 coiled-coil distinct from fusion context
    • Single lab
    • Prevalence and clinical relevance of fusion not addressed
  14. 2026 Low

    Extended CAP-Gly variant consequences to lysosomal positioning, tying CAP-Gly integrity to broader intracellular trafficking beyond microtubule binding and TDP-43.

    Evidence Cell-based immunofluorescence for p150Glued localization, TDP-43 distribution, and lysosomal positioning

    PMID:41724579

    Open questions at the time
    • Cell-based overexpression assay with limited methodological detail
    • Single lab
    • Mechanism linking p150Glued to lysosomal positioning unresolved

Open questions

Synthesis pass · forward-looking unresolved questions
  • How DCTN1's microtubule-transport function, its direct TDP-43 binding, and its signaling roles (Cdc42/PAK2) mechanistically converge to produce dopaminergic and motor neuron degeneration remains unresolved.
  • No structural model linking CAP-Gly mutation to TDP-43 mislocalization
  • Relationship between transport defect and Cdc42 signaling unknown
  • Reason for tissue-specific vulnerability (dopaminergic vs motor neurons) undefined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008092 cytoskeletal protein binding 2 GO:0060090 molecular adaptor activity 1
Localization
GO:0005829 cytosol 2 GO:0005856 cytoskeleton 1
Pathway
R-HSA-162582 Signal Transduction 2 R-HSA-9609507 Protein localization 1
Partners
CDC42RETTDP-43UNC-104/KIF1A
Complex memberships
dynactin

Evidence

Reading pass · 14 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2021 DCTN1 binds directly to TDP-43; biochemical truncation analysis showed that the CAP-Gly-basic supradomain, dynactin domain, and C-terminal region of DCTN1 each interact with TDP-43 preferentially through TDP-43's C-terminal region. The Perry disease mutation p.G71A impairs this TDP-43-binding ability. Overexpression of DCTN1-G71A, the dynactin-domain fragment, or C-terminal fragment induced cytoplasmic mislocalization and aggregation of TDP-43, identifying DCTN1 as a regulator of TDP-43 nucleocytoplasmic transport. Co-immunoprecipitation, truncation mutant pulldown panel, overexpression with immunocytochemistry International journal of molecular sciences Medium 33924373
2024 DCTN1 deficiency perturbs stress granule dynamics (delays their disassembly after stress) and thereby drives TDP-43 cytoplasmic aggregation in cultured cells; genetic knockdown of DCTN1 in a Drosophila ALS/FTD model accelerates ubiquitin-positive TDP-43 cytoplasmic inclusions and neurodegeneration. Knockdown of other microtubule-associated motor complexes (dynein, kinesin) similarly increased TDP-43 inclusions, placing intracellular transport along microtubules as a key upstream requirement. siRNA knockdown in cultured cells (stress granule disassembly assay), Drosophila genetic knockdown with immunohistochemistry for TDP-43 inclusions Acta neuropathologica communications Medium 38311779
2020 DCTN1 functions upstream of Cdc42/PAK2 signaling during RANKL-induced osteoclastogenesis: DCTN1 knockdown suppressed RANKL-induced Cdc42 activation, osteoclast formation, bone resorption, and induction of NFATc1/c-Fos; constitutively active Cdc42 rescued osteoclast differentiation in DCTN1-depleted precursors. PAK2 was identified as functioning downstream of Cdc42 in this axis. DCTN1 also inhibited caspase-3 activation/apoptosis during differentiation. siRNA knockdown, constitutively active Cdc42 rescue, Cdc42 activity assay, caspase-3 assay, in vivo bone erosion model Experimental & molecular medicine High 32210358
2019 Wild-type DCTN1 is primarily degraded by the ubiquitin-proteasome system under normal conditions; autophagy is not the primary degradation route for either wild-type or G59S mutant DCTN1 under basal conditions. However, when proteasome activity is inhibited, autophagy acts as a backup clearance pathway for G59S DCTN1 aggregates. Overexpression of the autophagy master regulator TFEB promotes autophagic clearance of G59S aggregates and reduces cytotoxicity when proteasomes are impaired. Proteasome inhibitor treatment, autophagy inhibition, TFEB overexpression, cell viability assays in cultured cell model Neurotoxicity research Medium 31654383
2024 Wild-type p150Glued (DCTN1) co-overexpression suppresses aggregate formation by Perry disease-linked mutant p150Glued in HEK293T cells, indicating a dominant-negative or sequestration mechanism; this rescue was less effective for motor neuron disease-linked mutants. Perry disease mutations (but not control-associated variants) in the CAP-Gly domain caused cytoplasmic aggregation distinct from the thread-like distribution of wild-type or ALS-associated variants. Overexpression of wild-type and mutant DCTN1 constructs in HEK293T cells with immunofluorescence distribution analysis Biological & pharmaceutical bulletin Low 38267040
2010 In C. elegans neurons, DNC-1 (the DCTN1/p150Glued ortholog) acts as an adaptor for kinesin-3 UNC-104(KIF1A): bimolecular fluorescence complementation (BiFC) showed that the UNC-104/DNC-1 complex localizes predominantly to axonal termini, in contrast to UNC-104/UNC-16 (soma) or UNC-104/SYD-2 (along axons), indicating that the DNC-1 adaptor directs the motor to axon terminals. Bimolecular fluorescence complementation (BiFC) in live C. elegans neurons Neuroscience Medium 21195138
2011 Dctn1 is localized to the sperm tail in mouse; in vivo siRNA-mediated knockdown of Dctn1 in mouse seminiferous tubules significantly increased sperm tail morphological abnormalities (~24% vs ~12% in controls), demonstrating a required role for DCTN1 in spermiogenesis/sperm tail formation. Western blot, indirect immunofluorescence for localization; in vivo siRNA microinjection into seminiferous tubules with sperm morphology analysis Zhonghua nan ke xue (National journal of andrology) Medium 21961240
2023 Neuron-specific or muscle-specific knockdown of Dctn1 (Drosophila ortholog of DCTN1) each independently caused climbing and flight defects in adult flies; global Dctn1 reduction caused larval mobility reduction and neuromuscular junction deficits prior to pupal lethality. RNA-seq revealed splicing alterations in genes required for synapse organisation, indicating that loss of DCTN1 disrupts synaptic gene expression downstream. Tissue-specific RNAi knockdown in Drosophila, behavioral assays, NMJ morphology, RNA-seq transcriptome profiling Frontiers in neuroscience Medium 37360176
2014 The DCTN1 p.F52L mutation impairs microtubule binding of p150Glued in vitro (compared to wild-type), and the DCTN1 p.K56R mutation reduces affinity for microtubules and causes a more diffuse cytoplasmic distribution in HEK293 cells compared to wild-type p150Glued. In vitro microtubule-binding assay (p.F52L); HEK293 cell transfection with immunofluorescence distribution and microtubule co-sedimentation (p.K56R) Movement disorders; Parkinsonism & related disorders Medium 24676999 27132499
2020 Two novel DCTN1 frameshift/missense mutations alter subcellular localization: c.626dupC causes nuclear trapping of p150Glued and loss of colocalization with α-tubulin (producing a truncated protein by Western blot), while c.3823C>T causes cytoplasmic aggregate formation with loss of α-tubulin colocalization, establishing that these mutations disrupt normal cytoplasmic/microtubule association of DCTN1. In vitro transfection of mutant constructs with immunofluorescence and Western blot Annals of clinical and translational neurology Low 32023010
2025 The DCTN1-RET fusion oncogene activates RET through CC (coiled-coil) domain-mediated dimerization: deletion of the CC domain from DCTN1 abrogated dimer formation and reduced RET autophosphorylation and ERK phosphorylation. Cells expressing DCTN1-RET showed enhanced proliferation and in vivo tumorigenesis; RET inhibitor TAS0286 suppressed DCTN1-RET autophosphorylation and tumor growth in a mouse subcutaneous model. Expression vector construction, CC-domain deletion mutants, cell line stable expression, in vitro kinase/phosphorylation assays, in vivo mouse tumor model, RET inhibitor treatment Anticancer research Medium 40155036
2017 DCTN1-G71A transgenic mice (expressing human DCTN1-G71A under Thy1 promoter) developed decreased exploratory activity and impaired motor coordination with age, recapitulating apathy and parkinsonism of Perry syndrome, establishing that a single DCTN1 mutation is sufficient to cause these behavioral phenotypes. TDP-43 aggregates were not detected in substantia nigra or cortex of these mice (negative finding). Transgenic mouse generation and behavioral battery (open field, rotarod, beam-walking); immunohistochemistry for TDP-43 Neuroscience letters Medium 29273399
2021 Dctn1 knock-in mice carrying G71A showed depression-like behavior (immobility in tail suspension test), motor deficits (beam-walking, pole test), and reduced tyrosine hydroxylase immunoreactivity in substantia nigra neurons, confirming that the heterozygous G71A point mutation alone is sufficient to cause dopaminergic neuron dysfunction and Perry disease-relevant behavioral phenotypes. Knock-in mouse model, behavioral battery, TH immunohistochemistry with quantification Neuroscience letters Medium 34508845
2026 Perry disease DCTN1 CAP-Gly domain variants (p.Arg32Cys, p.Gly67Ser, p.Gly71Arg) impair localization of p150Glued, induce TDP-43 pathology, and alter lysosomal positioning in functional cell-based studies, linking CAP-Gly domain integrity to correct intracellular trafficking. Functional cell studies: immunofluorescence for p150Glued localization, TDP-43 distribution, and lysosomal positioning Movement disorders Low 41724579

Source papers

Stage 0 corpus · 52 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2004 Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 349 15326253
2005 Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD. Annals of neurology 155 16240349
2015 STUMP un"stumped": anti-tumor response to anaplastic lymphoma kinase (ALK) inhibitor based targeted therapy in uterine inflammatory myofibroblastic tumor with myxoid features harboring DCTN1-ALK fusion. Journal of hematology & oncology 80 26062823
2017 DCTN1-related neurodegeneration: Perry syndrome and beyond. Parkinsonism & related disorders 77 28625595
2014 DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes. JAMA neurology 47 24343258
2021 DCTN1 Binds to TDP-43 and Regulates TDP-43 Aggregation. International journal of molecular sciences 33 33924373
2014 A novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy. Movement disorders : official journal of the Movement Disorder Society 33 24676999
2010 Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure. Movement disorders : official journal of the Movement Disorder Society 33 20437543
2016 DCTN1 p.K56R in progressive supranuclear palsy. Parkinsonism & related disorders 30 27132499
2010 Autonomic failures in Perry syndrome with DCTN1 mutation. Parkinsonism & related disorders 24 20702129
2017 DCTN1 gene analysis in Chinese patients with sporadic amyotrophic lateral sclerosis. PloS one 22 28792508
2021 DCTN1-ALK gene fusion in inflammatory myofibroblastic tumor (IMT) of the CNS. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 20 34014367
2018 DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy. Parkinsonism & related disorders 17 29499916
2010 Sub-cellular distribution of UNC-104(KIF1A) upon binding to adaptors as UNC-16(JIP3), DNC-1(DCTN1/Glued) and SYD-2(Liprin-α) in C. elegans neurons. Neuroscience 16 21195138
2021 A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 15 33443672
2014 In vivo dopaminergic and serotonergic dysfunction in DCTN1 gene mutation carriers. Movement disorders : official journal of the Movement Disorder Society 15 24797316
2019 Autophagy and Ubiquitin-Proteasome System Coordinate to Regulate the Protein Quality Control of Neurodegenerative Disease-Associated DCTN1. Neurotoxicity research 14 31654383
2024 Dysregulation of stress granule dynamics by DCTN1 deficiency exacerbates TDP-43 pathology in Drosophila models of ALS/FTD. Acta neuropathologica communications 13 38311779
2020 The dynactin subunit DCTN1 controls osteoclastogenesis via the Cdc42/PAK2 pathway. Experimental & molecular medicine 13 32210358
2021 Effectiveness of alectinib and osimertinib in a brain metastasized lung adenocarcinoma patient with concurrent EGFR mutations and DCTN1-ALK fusion. Thoracic cancer 12 34964276
1998 Human DCTN1: genomic structure and evaluation as a candidate for Alström syndrome. Genomics 12 9799602
2020 Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome. Parkinsonism & related disorders 11 32712562
2023 Reduced levels of ALS gene DCTN1 induce motor defects in Drosophila. Frontiers in neuroscience 10 37360176
2020 Larotrectinib followed by selitrectinib in a novel DCTN1-NTRK1 fusion undifferentiated pleomorphic sarcoma. Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners 10 32693686
1998 The genomic structure of DCTN1, a candidate gene for limb-girdle muscular dystrophy (LGMD2B). Biochimica et biophysica acta 10 9805007
2020 New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity. Annals of clinical and translational neurology 9 32023010
2017 Behavioral defects in a DCTN1G71A transgenic mouse model of Perry syndrome. Neuroscience letters 9 29273399
2021 An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report. Amyotrophic lateral sclerosis & frontotemporal degeneration 8 34615428
2022 Response to ALK-TKIs in a lung adenocarcinoma patient harboring dual DCTN1-ALK and ALK-CLIP4 rearrangements. Thoracic cancer 7 35212154
2022 Spindle cell/sclerosing rhabdomyosarcoma with DCTN1::ALK fusion: broadening the molecular spectrum with potential therapeutic implications. Virchows Archiv : an international journal of pathology 7 35229187
2023 Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease. Parkinsonism & related disorders 6 37336025
2021 Behavioral profile in a Dctn1G71A knock-in mouse model of Perry disease. Neuroscience letters 6 34508845
2020 DCTN1-related Parkinson-plus disorder (Perry syndrome). Practical neurology 6 32434902
2007 The p150 subunit of dynactin (DCTN1) gene in multiple sclerosis. Acta neurologica Scandinavica 6 17824900
2001 Genomic organization of the DCTN1-SLC4A5 locus encoding both NBC4 and p150(Glued). Cytogenetics and cell genetics 6 12063394
2024 Multisystem ALK-Positive Histiocytosis With DCTN1::ALK Fusion in an Adult, Responsive to Alectinib: Case Report and Literature Review. Journal of cutaneous pathology 5 39403984
2020 DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB. Neurobiology of aging 4 32402491
2011 [Location of Dctn1 in the mouse testis and sperm and its role in spermiogenesis]. Zhonghua nan ke xue = National journal of andrology 4 21961240
2020 A Novel Cosegregating DCTN1 Splice Site Variant in a Family with Bipolar Disorder May Hold the Key to Understanding the Etiology. Genes 3 32325768
2021 Novel Variants in the CLCN1, RYR2, and DCTN1 Found in Elderly Japanese Dementia Patients: A Case Series. Geriatrics (Basel, Switzerland) 2 33562224
2020 Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation. The New Zealand medical journal 2 32325477
2025 Activation of DCTN1-RET Fusion Through Coiled-coil Domain as a Potential Target for RET Inhibitors. Anticancer research 1 40155036
2025 Pediatric Cutaneous Anaplastic Lymphoma Kinase-Positive Histiocytosis with DCTN1::ALK Fusion: A Case Report and Literature Search. Diagnostics (Basel, Switzerland) 1 40361876
2025 DCTN1-associated neurological disorder with symptoms similar to spinal bulbar muscular atrophy. Journal of neuromuscular diseases 1 40665686
2023 A Chinese pedigree with Perry disease caused by the p.Y78H mutation in DCTN1: A 6-year clinical follow-up. Behavioural brain research 1 36608707
2026 Pediatric intracranial inflammatory myofibroblastic tumor harboring DCTN1::ALK fusion: a case report with radiologic-pathologic-molecular correlation. Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 0 41543587
2026 Novel Variants in DCTN1 Associated with Perry Disease: A Case Series from a Chinese Parkinsonism Cohort. Movement disorders : official journal of the Movement Disorder Society 0 41724579
2026 Case Report: imaging features of anaplastic lymphoma kinase-rearranged renal cell carcinoma with a novel DCTN1::ALK fusion. Frontiers in oncology 0 41883969
2025 Response to anaplastic lymphoma kinase inhibitor in gastric cancer harboring DCTN1-ALK fusion: a case report and review. Frontiers in immunology 0 41246301
2025 Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study. NPJ genomic medicine 0 41271780
2024 Wild-Type DCTN1 Suppresses the Aggregation of DCTN1 Mutants Associated with Perry Disease. Biological & pharmaceutical bulletin 0 38267040
2024 Clinical and neurophysiological characterization of p.Gly59Ser mutation in DCTN1: a study in a Thai family and a brief review. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 0 39395070

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