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Showing AGTPBP1 — CCP1 is a alias.

AGTPBP1

Cytosolic carboxypeptidase 1 · UniProt Q9UPW5

Length
1226 aa
Mass
138.4 kDa
Annotated
2026-06-09
30 papers in source corpus 22 papers cited in narrative 22 extracted findings
Cross-family judge vs UniProt: tie faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

AGTPBP1/Nna1 (cytosolic carboxypeptidase 1, CCP1) is a monomeric zinc metallocarboxypeptidase of the M14D subfamily that removes C-terminal glutamate residues from polyglutamylated substrates, most notably α- and β-tubulin, with a preference for substrates carrying two or more terminal glutamates (PMID:17244817, PMID:22835831, PMID:30225910). Its catalytic activity depends on an intact zinc-binding and substrate-binding active site, and active-site or zinc-domain mutations abolish both enzymatic function and the ability to rescue neurodegeneration in vivo (PMID:16952463, PMID:18602413, PMID:22835831). Loss of this deglutamylase activity produces hyperglutamylated, destabilized microtubules and triggers ER stress, the unfolded protein response, and protein-synthesis inhibition that precede neuronal death, a degenerative cascade pharmacologically reversible by microtubule depolymerization (PMID:30225910, PMID:33004692). AGTPBP1 was originally identified as the gene mutated in the Purkinje cell degeneration (pcd) mouse, where loss of function causes degeneration of cerebellar Purkinje neurons, retinal photoreceptors, olfactory mitral neurons, and selected thalamic neurons, together with defective spermatogenesis (PMID:11884758); recessive loss-of-function variants further cause motor neuron disease in sheep and teratozoospermia in humans, where AGTPBP1 localizes to the spermatid manchette and its catalytic activity is required for normal sperm head and tail morphology (PMID:22588130, PMID:37937809, PMID:41160201). Beyond tubulin deglutamylation, AGTPBP1 contributes to downstream protein turnover by degrading proteasome-generated peptides into amino acids, and its loss elevates autophagy (PMID:20061535, PMID:20484972). A distinct N-terminal nuclear-localization domain, separable from catalytic function, supports hippocampal synaptic trafficking of the GluA2 AMPA receptor and kinesin-1 (PMID:36361749).

Mechanistic history

Synthesis pass · year-by-year structured walk · 20 steps
  1. 2000 Medium

    Established the domain architecture and dual nuclear/cytoplasmic localization of Nna1, framing it as a carboxypeptidase with regulatory nucleotide-binding and nuclear-targeting features.

    Evidence GFP-fusion live imaging in cultured neurons plus bioinformatic domain analysis

    PMID:11083920

    Open questions at the time
    • Localization from overexpressed GFP fusion only
    • Did not test enzymatic activity or substrate
  2. 2002 High

    Identified Nna1 as the gene causally mutated in the pcd mouse, linking its loss to a defined multi-tissue degenerative phenotype before any biochemical function was known.

    Evidence Genetic mapping and sequencing of multiple independent pcd alleles

    PMID:11884758

    Open questions at the time
    • Did not define molecular substrate or catalytic mechanism
    • Causal cell-biological lesion unknown
  3. 2006 High

    Demonstrated that the carboxypeptidase substrate-binding site is functionally required in vivo, showing the degenerative phenotype reflects loss of enzymatic activity rather than a structural role.

    Evidence Transgenic rescue of pcd mice with wild-type vs. substrate-binding-site mutant Nna1

    PMID:16952463

    Open questions at the time
    • Endogenous substrate not yet identified
    • Did not localize where catalysis acts
  4. 2006 High

    Showed a single-residue insertion (pcd5J) destabilizes the protein without affecting mRNA, establishing protein stability as a route to functional loss.

    Evidence Sequencing plus pulse-chase protein stability assay

    PMID:16465590

    Open questions at the time
    • Mechanism of destabilization not defined
    • Did not test residual activity of mutant
  5. 2007 High

    Provided the first direct enzymatic evidence by reconstituting metallocarboxypeptidase activity from a Nna1 ortholog, defining the M14D subfamily and a tubulin-carboxypeptidase-like specificity.

    Evidence Recombinant C. elegans ortholog in vitro assay with synthetic peptides and inhibitor profiling

    PMID:17244817

    Open questions at the time
    • Used ortholog rather than mammalian protein
    • Tubulin substrate not directly demonstrated here
  6. 2008 High

    Confirmed the zinc-binding domain is essential in vivo, tying the catalytic metal center to prevention of photoreceptor and Purkinje cell loss.

    Evidence BAC transgenic rescue of pcd5J with wild-type vs. zinc-domain mutant Nna1

    PMID:18602413

    Open questions at the time
    • Did not measure substrate modification in rescued tissue
  7. 2010 High

    Linked AGTPBP1 to bulk protein turnover by showing pcd mice accumulate proteasome-generated peptides with normal proteasome activity, and that resulting amino acid scarcity elevates autophagy.

    Evidence Peptidomics/proteomics, proteasome activity assays, and autophagy markers in pcd mouse brain

    PMID:20061535 PMID:20484972

    Open questions at the time
    • Did not establish whether peptide accumulation is a direct catalytic deficit or secondary
    • Relationship to tubulin deglutamylation unresolved at this stage
  8. 2010 Medium

    Identified downstream signaling consequences of Nna1 loss in Purkinje dendrite development through intranuclear lysyl oxidase propeptide affecting NF-κB RelA and MAP-microtubule stability.

    Evidence Single-cell profiling and viral rescue in pcd Purkinje cells with pathway analysis

    PMID:20920790

    Open questions at the time
    • Causal chain from carboxypeptidase loss to lysyl oxidase indirect
    • Single lab pathway inference
  9. 2010 Medium

    Connected AGTPBP1 to spermatogenesis, defining its germ-cell expression window and the apoptotic stage of germ-cell loss upon its mutation.

    Evidence IHC and gene-expression analysis in pcd3J testes

    PMID:21110128

    Open questions at the time
    • Did not link to tubulin modification mechanism
    • Gene-expression changes correlative
  10. 2012 High

    Definitively reconstituted mammalian Nna1 as a monomeric deglutamylase removing glutamate from tubulin with chain-length preference, identified catalytic residues, and showed ATP/GTP binding is dispensable for catalysis and neuronal survival.

    Evidence Purified recombinant Nna1 assays with tubulin/synthetic substrates, active-site mutagenesis, transgenic rescue

    PMID:22835831

    Open questions at the time
    • Did not address in vivo glutamylation balance directly
    • Function of the nucleotide-binding motif left open
  11. 2012 Medium

    Extended the loss-of-function disease spectrum to a large mammal, showing a catalytic-residue missense mutation causes recessive motor neuron disease in sheep.

    Evidence Homozygosity mapping and candidate-gene sequencing in affected sheep

    PMID:22588130

    Open questions at the time
    • No in vitro functional confirmation of the variant
    • Mechanism in motor neurons not dissected
  12. 2018 High

    Confirmed in vivo that the carboxypeptidase domain deglutamylates α/β-tubulin and that its loss elevates polyglutamylated tubulin and induces ER stress in Purkinje cells.

    Evidence Conditional Cre-loxP knockout of catalytic-domain exons with tubulin and ER-stress readouts

    PMID:30225910

    Open questions at the time
    • Did not establish how hyperglutamylation triggers ER stress
  13. 2020 High

    Linked the molecular lesion to the death pathway by showing hyperglutamylated/dimeric tubulin accumulation drives ER stress, UPR, and translation inhibition preceding cell death, reversible by microtubule depolymerization.

    Evidence Single-neuron laser-capture analysis with pharmacological microtubule depolymerizer rescue and ER-stress markers

    PMID:33004692

    Open questions at the time
    • Pharmacological rescue not a genetic proof of pathway
    • Apoptosis vs necroptosis contribution not resolved
  14. 2015 Medium

    Revealed a developmental role outside the nervous system, showing agtpbp1 is required for T lymphocyte development in zebrafish.

    Evidence Transposon mutagenesis plus morpholino knockdown with flow cytometry

    PMID:26161877

    Open questions at the time
    • Molecular mechanism in T cells undefined
    • Not connected to tubulin deglutamylation
  15. 2022 Medium

    Separated catalytic from non-catalytic function by showing the N-terminal NLS domain supports hippocampal synaptic GluA2/kinesin-1 trafficking and learning without causing the pcd degenerative phenotype.

    Evidence Exon 3 (NLS) conditional knockout mice with synaptosomal western blots and behavioral testing

    PMID:36361749

    Open questions at the time
    • Direct molecular role of NLS domain in trafficking unclear
    • Residual truncated protein complicates interpretation
  16. 2023 Medium

    Established the cell-biological basis of the spermatogenic defect, localizing AGTPBP1 to the manchette and linking its loss to abnormal tubulin glutamylation and human teratozoospermia.

    Evidence Immunolocalization, Agtpbp1-null sperm morphology, tubulin western blots, and human exome sequencing

    PMID:37937809

    Open questions at the time
    • Human variants lacked in vitro functional assay
    • How manchette localization is achieved unknown
  17. 2025 Medium

    Confirmed by a catalytic knock-in that deglutamylase activity per se is required for normal sperm morphology, controlling tubulin glutamylation in the sperm head.

    Evidence CRISPR R791H knock-in mouse with sperm morphology and polyglutamylated-tubulin immunofluorescence

    PMID:41160201

    Open questions at the time
    • Single residue/model
    • Did not measure downstream motility mechanisms
  18. 2025 Medium

    Implicated AGTPBP1 in neurite outgrowth and dopaminergic/mitochondrial homeostasis via CRMP2, with pharmacological CRMP2 modulation rescuing developmental defects.

    Evidence AGTPBP1 KO cells and zebrafish knockdown with CRMP2 readouts and lacosamide rescue

    PMID:40347376

    Open questions at the time
    • Mechanistic link between deglutamylation and CRMP2 unresolved
    • Single lab
  19. 2025 Medium

    Showed therapeutic gain-of-function potential, with Nna1 overexpression suppressing microtubule hyperglutamylation, autophagy, and apoptosis to ameliorate diabetic retinopathy.

    Evidence In vivo and in vitro gain/loss-of-function in Müller cells and diabetic retina with glutamylation and cell-death markers

    PMID:41190783

    Open questions at the time
    • Mechanism connecting glutamylation to autophagy in Müller cells not dissected
    • Single lab
  20. 2026 Low

    Proposed pro-tumorigenic roles for AGTPBP1 through ERK pathway activation in pancreatic and breast cancer cells, via MYLK upregulation and EVPL repression respectively.

    Evidence Gain/loss-of-function in cancer cell lines with RNA-seq, ERK-inhibitor and rescue experiments

    PMID:41905574 PMID:41930881

    Open questions at the time
    • No biochemical reconstitution; mechanism inferred from pharmacology and RNA-seq
    • Not connected to deglutamylase activity
    • Cell-line based only, single labs

Open questions

Synthesis pass · forward-looking unresolved questions
  • How AGTPBP1 is targeted to distinct subcellular sites (manchette, synapse, nucleus) and how tubulin hyperglutamylation is mechanistically transduced into ER stress and translation arrest remain unresolved.
  • No structural model of substrate engagement on the tubulin C-terminal tail
  • Recruitment mechanism to manchette/synaptosomes unknown
  • Causal chain from hyperglutamylation to UPR not defined

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0008092 cytoskeletal protein binding 3 GO:0140096 catalytic activity, acting on a protein 3 GO:0016787 hydrolase activity 2
Localization
GO:0005634 nucleus 3 GO:0005856 cytoskeleton 3 GO:0005829 cytosol 2

Evidence

Reading pass · 22 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2002 Nna1 (AGTPBP1) was identified as the gene mutated in the Purkinje cell degeneration (pcd) mouse, encoding a putative nuclear protein with a zinc carboxypeptidase domain; loss-of-function of Nna1 causes degeneration of cerebellar Purkinje neurons, retinal photoreceptors, olfactory bulb mitral neurons, selected thalamic neurons, and defective spermatogenesis. Genetic mapping and sequencing of pcd alleles; identification of mutations in Nna1 in original pcd, pcd2J, and pcd3J alleles Science High 11884758
2000 Nna1 encodes a zinc carboxypeptidase with nuclear localization signals and an ATP/GTP binding motif; GFP-Nna1 fusion protein localizes to both cytoplasmic and nuclear compartments in cultured neurons. GFP-fusion protein transfection and live-cell imaging in cultured neurons; bioinformatic domain analysis Molecular and cellular neurosciences Medium 11083920
2006 The carboxypeptidase substrate-binding site of Nna1 is functionally essential for Purkinje cell survival; a substrate-binding site mutant of Nna1 failed to rescue ataxic behavior and Purkinje cell loss in pcd(3J) mice, whereas wild-type Nna1 did rescue. Transgenic rescue in pcd mice using L7/pcp2 promoter-driven wild-type vs. substrate-binding site mutant Nna1; behavioral and histological analysis Molecular and cellular neurosciences High 16952463
2006 The pcd5J allele results from a single aspartic acid insertion at position 775 of Nna1, which does not affect mRNA expression but dramatically destabilizes the Nna1 protein, as shown by pulse-chase experiments. Sequencing of Nna1 in pcd5J mice; pulse-chase protein stability assay Mammalian genome High 16465590
2007 Nna1-like proteins constitute a new M14 subfamily (M14D) of metallocarboxypeptidases with an unusually open active site; a C. elegans ortholog was shown to be a fully functional metallocarboxypeptidase cleaving C-terminal amino acids from synthetic peptides, with activity activated by ATP/ADP and preferentially inhibited by Z-Glu-Tyr, resembling tubulin carboxypeptidase activity. Recombinant protein expression and in vitro enzymatic assay with synthetic peptide substrates; phylogenetic and conformational modeling FASEB journal High 17244817
2008 The zinc-binding domain of Nna1 is required to prevent retinal photoreceptor loss and Purkinje cell degeneration; a BAC transgene containing wild-type Nna1 rescues these phenotypes in pcd(5J) mice, but mutation of the zinc-binding domain abolishes rescue. BAC transgenic rescue in pcd(5J) mice with wild-type vs. zinc-binding domain mutant Nna1; histological analysis of retina and cerebellum Vision research High 18602413
2010 CCP1/Nna1 (AGTPBP1) functions in protein turnover by degrading proteasome-generated peptides into amino acids; pcd mice lacking functional CCP1/Nna1 accumulate hundreds of intracellular peptides from cytosolic and mitochondrial proteins, while proteasome activity is normal, indicating a specific downstream peptide-degradation deficit. Quantitative proteomics and peptidomics comparing pcd mutant vs. wild-type mouse brain regions; 2D gel electrophoresis; proteasome activity assay; autophagy markers FASEB journal High 20061535
2010 Loss of CCP1/Nna1 causes elevated autophagy in both degenerating and non-degenerating brain regions of pcd mice, proposed to result from decreased cellular amino acid levels due to failure to degrade proteasome-generated peptides. Autophagy marker analysis in pcd mouse brain regions Autophagy Medium 20484972
2010 Mutant Nna1 leads to abnormal Purkinje cell dendrite development through increased intranuclear localization of lysyl oxidase propeptide, which interferes with NF-κB RelA signaling and microtubule-associated protein regulation of microtubule stability. Single-cell gene profiling of pcd(Sid) mouse Purkinje cells; virus-based gene transfer rescue; pathway analysis of NF-κB RelA signaling and MAP-microtubule stability Neuron Medium 20920790
2010 AGTPBP1 is expressed in spermatogenic cells between late-stage primary spermatocytes and round spermatids; loss of Agtpbp1 in pcd(3J) mice causes apoptosis of differentiating germ cells beginning at the pachytene spermatocyte stage, with altered expression of cyclin B3 and deubiquitinating enzymes USP2 and USP9y. Immunohistochemistry with anti-AGTPBP1 antibody in testes; global gene expression analysis of pcd(3J) testes; histological and apoptosis analysis Molecules and cells Medium 21110128
2012 Recombinant Nna1 is a monomeric metallocarboxypeptidase that removes glutamate from tubulin and preferentially cleaves substrates with 2 or more C-terminal glutamate residues (Vmax for 3 glutamates ~7-fold higher than 2 glutamates); catalytic mutants D1007E, R1078E, and E1094A are inactive; ATP/GTP binding is not required for catalysis or neuronal survival in vivo. Purified recombinant Nna1 enzymatic assay with synthetic substrates and tubulin; active-site mutagenesis; transgenic rescue in pcd mice FASEB journal High 22835831
2012 A missense mutation c.2909G>C (p.Arg970Pro) in the AGTPBP1 gene, affecting a conserved residue for catalytic activity, causes autosomal recessive lower motor neuron disease in Romney sheep, establishing that AGTPBP1 loss-of-function causes motor neuron disease in a large mammal. Genome-wide homozygosity mapping; sequencing of candidate gene AGTPBP1; genotyping in affected, carrier, and normal sheep Heredity Medium 22588130
2018 Conditional knockout of the carboxypeptidase domain of Nna1 in mice produces Purkinje cell degeneration with cerebellar ataxia and results in increased polyglutamylated tubulin in the cerebellum, confirming that Nna1 acts as a de-glutamatase on the C-terminus of α- and β-tubulin; ER stress marker CHOP is upregulated in mutant Purkinje cells. Conditional Cre-loxP knockout of exons encoding carboxypeptidase domain; western blot for polyglutamylated tubulin; ER stress markers; histology Journal of neurochemistry High 30225910
2020 Loss of Nna1 deglutamylase activity leads to hyperglutamylated microtubules and dimeric tubulins accumulating in Purkinje neurons; treatment with a microtubule depolymerizer corrects the glutamylation/deglutamylation ratio and increases Purkinje neuron survival; pcd Purkinje neurons also display ER stress, unfolded protein response, and protein synthesis inhibition preceding death by apoptosis/necroptosis. Laser capture microdissection of single Purkinje neurons; mRNA and protein analysis; pharmacological treatment with microtubule depolymerizer; ER stress marker analysis JCI insight High 33004692
2015 agtpbp1 is essential for T lymphocyte development in zebrafish; homozygous agtpbp1 mutants and morpholino knockdown embryos show impaired T cell development at 6 days of age. Gene-breaking transposon mutagenesis; flow cytometry of immune cells; morpholino knockdown confirmation PloS one Medium 26161877
2022 The N-terminal nuclear localization signal (NLS) of Nna1 is involved in hippocampal function; exon 3 (N-terminal NLS) knockout mice that still express a truncated Nna1 protein do not develop the pcd phenotype but show reduced GluA2 AMPA receptor and kinesin-1 in the hippocampal synaptosomal fraction, along with impaired context- and cue-dependent learning and altered anxiety. Conditional exon 3 knockout mouse; behavioral tests (elevated plus maze, light/dark box, fear conditioning); synaptosomal fractionation and western blot for GluA2 and kinesin-1 International journal of molecular sciences Medium 36361749
2023 AGTPBP1 is localized to the manchette structure in murine spermatids, and its loss (null mice) causes sperm head and tail defects associated with abnormal polyglutamylated tubulin accumulation and decreased Δ-2 tubulin; in humans, AGTPBP1 missense mutations produce teratozoospermia with sperm head and flagella defects and fragmented/abnormal AGTPBP1 localization in the neck and annulus regions. Immunolocalization in mouse testes; analysis of Agtpbp1-null mouse sperm morphology; western blot for polyglutamylated and Δ-2 tubulin; whole-exome sequencing in human patients Journal of cellular and molecular medicine Medium 37937809
2025 AGTPBP1 knockout leads to excessive neurite outgrowth, increased CRMP2 expression, mitochondrial dysfunction, and a hyperdopaminergic state in differentiated neurons in vitro; in zebrafish, AGTPBP1 knockdown causes reduced brain volume and impaired motor function; lacosamide (a CRMP2 modulator) rescues these defects. AGTPBP1 KO cell model; zebrafish knockdown; neurite outgrowth measurement; CRMP2 western blot; mitochondrial function assay; dopamine level measurement; pharmacological rescue with lacosamide Molecular neurobiology Medium 40347376
2025 The R791H knock-in mutation in Agtpbp1 (equivalent to human R811H) causes sperm head and tail defects with abnormal accumulation of polyglutamylated tubulin in the sperm head, confirming that the carboxypeptidase activity of AGTPBP1 is required for proper sperm morphology. CRISPR knock-in mouse model; sperm morphological analysis; immunofluorescence for polyglutamylated tubulin Journal of assisted reproduction and genetics Medium 41160201
2025 Nna1 overexpression in Müller cells suppresses microtubule hyper-glutamylation, reducing autophagy and apoptosis in vitro and ameliorating diabetic retinopathy progression in vivo. In vivo knockdown and overexpression of Nna1 in diabetic mouse retina; in vitro Müller cell experiments; measurement of autophagy and apoptosis markers; polyglutamylation assay Advanced science Medium 41190783
2026 AGTPBP1 promotes pancreatic cancer cell proliferation and migration through activation of the MAPK/ERK pathway (increased ERK1/2 phosphorylation) and upregulation of MYLK at the transcriptional level; ERK signaling controls MYLK activity post-translationally without affecting MYLK expression. Gain-of-function and siRNA knockdown in PANC-1/AsPC-1 cells; ERK inhibitor (PD98059) rescue experiments; western blot; RNA-seq; IHC Tissue & cell Low 41930881
2026 AGTPBP1 promotes breast cancer progression by repressing envoplakin (EVPL) expression, leading to ERK1/2 activation; rescue experiments confirmed that EVPL overexpression attenuates AGTPBP1-induced malignant phenotypes and ERK activation. Stable overexpression and knockdown in T47D and MDA-MB-231 cells; RNA-sequencing; rescue experiments with EVPL overexpression; western blot for ERK phosphorylation Experimental cell research Low 41905574

Source papers

Stage 0 corpus · 30 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2002 Purkinje cell degeneration (pcd) phenotypes caused by mutations in the axotomy-induced gene, Nna1. Science (New York, N.Y.) 193 11884758
2007 Nna1-like proteins are active metallocarboxypeptidases of a new and diverse M14 subfamily. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 88 17244817
2000 Regenerating motor neurons express Nna1, a novel ATP/GTP-binding protein related to zinc carboxypeptidases. Molecular and cellular neurosciences 79 11083920
2010 Nna1 mediates Purkinje cell dendritic development via lysyl oxidase propeptide and NF-κB signaling. Neuron 63 20920790
2010 CCP1/Nna1 functions in protein turnover in mouse brain: Implications for cell death in Purkinje cell degeneration mice. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 48 20061535
2006 The carboxypeptidase-like substrate-binding site in Nna1 is essential for the rescue of the Purkinje cell degeneration (pcd) phenotype. Molecular and cellular neurosciences 42 16952463
2008 The zinc-binding domain of Nna1 is required to prevent retinal photoreceptor loss and cerebellar ataxia in Purkinje cell degeneration (pcd) mice. Vision research 31 18602413
2006 The Purkinje cell degeneration 5J mutation is a single amino acid insertion that destabilizes Nna1 protein. Mammalian genome : official journal of the International Mammalian Genome Society 28 16465590
2019 Biallelic variants in AGTPBP1, involved in tubulin deglutamylation, are associated with cerebellar degeneration and motor neuropathy. European journal of human genetics : EJHG 26 30976113
2018 Deletion of exons encoding carboxypeptidase domain of Nna1 results in Purkinje cell degeneration (pcd) phenotype. Journal of neurochemistry 26 30225910
2012 A missense mutation in AGTPBP1 was identified in sheep with a lower motor neuron disease. Heredity 22 22588130
2012 A structural and functional analysis of Nna1 in Purkinje cell degeneration (pcd) mice. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 22 22835831
2021 The Childhood-Onset Neurodegeneration with Cerebellar Atrophy (CONDCA) Disease Caused by AGTPBP1 Gene Mutations: The Purkinje Cell Degeneration Mouse as an Animal Model for the Study of this Human Disease. Biomedicines 20 34572343
2010 Abnormal sperm development in pcd(3J)-/- mice: the importance of Agtpbp1 in spermatogenesis. Molecules and cells 20 21110128
2020 Nna1 gene deficiency triggers Purkinje neuron death by tubulin hyperglutamylation and ER dysfunction. JCI insight 16 33004692
2010 A defect in cytosolic carboxypeptidase 1 (Nna1) causes autophagy in Purkinje cell degeneration mouse brain. Autophagy 14 20484972
2015 Mutagenesis Screen Identifies agtpbp1 and eps15L1 as Essential for T lymphocyte Development in Zebrafish. PloS one 13 26161877
2023 Deleterious genetic changes in AGTPBP1 result in teratozoospermia with sperm head and flagella defects. Journal of cellular and molecular medicine 11 37937809
2022 Nna1, Essential for Purkinje Cell Survival, Is also Associated with Emotion and Memory. International journal of molecular sciences 8 36361749
2021 The AGTPBP1 gene in neurobiology. Gene 8 34637898
2015 Bioinformatics Data Mining Approach Suggests Coexpression of AGTPBP1 with an ALS-linked Gene C9orf72. Journal of central nervous system disease 7 26106267
2023 Circ-AGTPBP1 promotes white matter injury through miR-140-3p/Pcdh17 axis role of Circ-AGTPBP1 in white matter injury. Journal of bioenergetics and biomembranes 6 37994971
2021 A novel pathogenic variant in the 3' end of the AGTPBP1 gene gives rise to neurodegeneration without cerebellar atrophy: an expansion of the disease phenotype? Neurogenetics 6 33909173
2024 Targeting AGTPBP1 inhibits pancreatic cancer progression via regulating microtubules and ERK signaling pathway. Molecular medicine (Cambridge, Mass.) 4 39129004
2012 Analysis of the light-sensitivity of the photoreceptor cells of the ataxia and male sterility (AMS) mouse, an Nna1 mutant. Pathology international 4 23121602
2025 Lacosamide Is a Novel Drug That Improves AGTPBP1 Knockout-Mediated Impairment of Neuronal and Dopaminergic Function. Molecular neurobiology 2 40347376
2025 Single-Cell RNA Sequencing of Retina Reveals Nna1 Upregulation in Myopic Diabetic Retinopathy as a Protective Factor Against Diabetic Damage. Advanced science (Weinheim, Baden-Wurttemberg, Germany) 2 41190783
2025 Human teratozoospermia-related AGTPBP1 R791H mutation is associated with sperm head and tail defects in a CRISPR-engineered murine model. Journal of assisted reproduction and genetics 1 41160201
2026 AGTPBP1 promotes breast cancer progression via the EVPL/ERK signaling axis. Experimental cell research 0 41905574
2026 A novel AGTPBP1-ERK/MYLK network mediates pancreatic cancer progression. Tissue & cell 0 41930881

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