The research report should be a detailed narrative explaining the function, biological processes, and localization of the gene product. Citations should be given for all claims.
You should prioritize authoritative reviews and primary scientific literature when conducting research. You can supplement
this with annotations you find in gene/protein databases, but these can be outdated or inaccurate.
We are specifically interested in the primary function of the gene - for enzymes, what reaction is catalyzed, and what is the substrate specificity? For transporters, what is the substrate? For structural proteins or adapters, what is the broader structural role? For signaling molecules, what is the role in the pathway.
We are interested in where in or outside the cell the gene product carries out its function.
We are also interested in the signaling or biochemical pathways in which the gene functions. We are less interested in broad pleiotropic effects, except where these elucidate the precise role.
Include evidence where possible. We are interested in both experimental evidence as well as inference from structure, evolution, or bioinformatic analysis. Precise studies should be prioritized over high-throughput, where available.
The requested target is correctly identified as human CFAP410, approved name cilia and flagella associated protein 410, formerly C21orf2 and also reported as LRRC76. It is not C9ORF72, and literature on that unrelated ALS gene was excluded. The retrieved target-specific literature consistently concerns the requested human protein and its orthologues; Open Targets maps it to human gene ENSG00000160226. (OpenTargets Search: -CFAP410)
CFAP410 is best understood as a non-enzymatic, centrosome/basal-body-associated regulatory and scaffold-like component of the NEK1 kinase complex. No catalytic reaction, transported substrate, or intrinsic enzymatic activity has been demonstrated. Its N-terminal leucine-rich-repeat region provides an interaction surface for NEK1, whereas its conserved C-terminal helical domain oligomerizes and supports correct basal-body targeting. The complex is required for efficient primary-cilium formation and homologous-recombination DNA repair. The exact NEK1 substrates and the molecular event by which the complex builds or maintains a cilium remain unknown. (stadler2024thecterminusof pages 8-9, gregorczyk2023functionalcharacterizationof pages 8-10, gregorczyk2023functionalcharacterizationof pages 4-5, gregorczyk2023functionalcharacterizationof pages 3-4)
| Question/aspect | Current conclusion | Strongest evidence/model | Confidence/limitation |
|---|---|---|---|
| Identity and domain architecture | CFAP410 is the approved human gene encoding cilia- and flagella-associated protein 410; C21orf2 is its former symbol. The protein has an N-terminal leucine-rich-repeat-containing module, a disordered linker, and a conserved C-terminal helical module. | Target-specific literature identifies human CFAP410 as formerly C21orf2. Structural analysis predicts two folded modules and resolved the human C-terminal domain at 1.50 Å; cross-species CTD structures had backbone RMSD below 0.5 Å. (OpenTargets Search: -CFAP410, stadler2024thecterminusof pages 2-3, stadler2024thecterminusof pages 3-4) | High. Identity and modular architecture are well supported, although a complete experimental structure of full-length human CFAP410 is unavailable. |
| Primary molecular role | CFAP410 is best classified as a non-enzymatic NEK1-associated regulatory/scaffold protein, not an enzyme or transporter. Its LRR region binds NEK1, while its C-terminal assembly supports localization and complex function. | Reciprocal endogenous immunoprecipitation, stringent 500 mM NaCl/1% Triton washes, size-exclusion chromatography, immunodepletion, and five-replicate quantitative proteomics showed a tight complex in human cells; all detectable complex-associated CFAP410 was NEK1-bound, although a separate NEK1 pool remained. (gregorczyk2023functionalcharacterizationof pages 5-7, gregorczyk2023functionalcharacterizationof pages 3-4) | High for stable association; moderate for the term “regulatory subunit.” Direct evidence shows complex-dependent functions and possible NEK1-mediated phosphorylation, but the complete biochemical mechanism and substrates remain unresolved. |
| NEK1-binding interface | The principal interface joins CFAP410 residues 1–138, containing the N-terminal LRR domain, to the acidic NEK1 C21ORF2-interaction domain, approximately residues 1208–1286. | AlphaFold modeling predicted electrostatic and hydrogen-bond contacts; charge-reversal mutants reduced co-precipitation. Pathogenic CFAP410 R73P and L224P weakened NEK1 association. (gregorczyk2023functionalcharacterizationof pages 8-10, gregorczyk2023functionalcharacterizationof pages 4-5) | Moderate-to-high. Mutagenesis supports the model, but no experimental atomic structure of the full CFAP410–NEK1 complex is available. |
| Centrosome and basal-body localization | Human CFAP410 localizes with NEK1 at centrosomes and the base of primary cilia, positioning it to regulate basal-body and ciliary functions. | In human ARPE-19 cells, CFAP410 and NEK1 co-localized with γ-tubulin at centrosomes and appeared at the ciliary base after serum starvation; earlier hTERT-RPE1 observations also placed CFAP410 at the basal body. (stadler2024thecterminusof pages 1-2, gregorczyk2023functionalcharacterizationof pages 5-7) | High for cellular localization. The exact basal-body substructure and targeting receptor remain unidentified. |
| Ciliogenesis | CFAP410 and its association with catalytically active NEK1 are required for efficient primary-cilium formation. | NEK1- or CFAP410-knockout ARPE-19 cells had markedly fewer ARL13B-positive cilia. Wild-type proteins rescued ciliogenesis, whereas kinase-dead NEK1 D146A, association-defective NEK1 D1277A, and association-defective CFAP410 L227P did not. (gregorczyk2023functionalcharacterizationof pages 8-10, gregorczyk2022interactionwithc21orf2 pages 12-14) | High in cultured human retinal epithelial cells. The downstream NEK1 substrate or structural event that produces a cilium is unknown, and some neuronal CFAP410 variant models show no gross ciliary abnormality. |
| Homologous-recombination DNA repair | CFAP410 is required for efficient homologous recombination, probably through the NEK1–CFAP410 functional unit rather than through intrinsic catalytic activity. | NEK1 or CFAP410 depletion caused strong HR defects comparable with BRCA1 depletion; six of eight CFAP410 siRNAs reduced repair. Baseline reporter conversion was approximately 1.1% in the traffic-light reporter and approximately 4% in DR-GFP. (gregorczyk2023functionalcharacterizationof pages 8-10) | High for an HR requirement; moderate for mechanism. The relevant repair substrate, recruitment step, and dependence on CFAP410 localization remain unresolved. |
| C-terminal tetramer and L224P | The CFAP410 CTD forms a tetrameric eight-helix bundle required for proper targeting. Disease-associated L224P disrupts helicity, produces monomeric CTD, weakens NEK1 binding, and prevents correct basal-body localization in a model organism. | Human CTD crystallography and static light scattering showed a tetramer; A219E yielded a dimer, whereas L224P yielded a monomer and lost characteristic α-helical circular-dichroism features. In T. brucei, the corresponding mutation abolished basal-body localization. (stadler2024thecterminusof pages 8-9, stadler2024thecterminusof pages 7-8, stadler2024thecterminusof pages 4-5) | High for human CTD structure and L224P destabilization; moderate for the human localization mechanism. The decisive in-vivo targeting experiment used T. brucei, not human cells. |
| Retinal disease evidence | Biallelic CFAP410 variants cause a rare retinal ciliopathy spectrum including cone–rod dystrophy, retinitis pigmentosa, and retinal dystrophy with macular/posterior staphyloma. Variant-induced instability and altered ubiquitination may contribute. | A 2023 cohort found nine affected patients from eight families among 10,530 probands; six of eight imaged patients had double hyperautofluorescence rings, and seven patients assessed by OCT had posterior staphyloma. A separate six-year-old compound heterozygote, Y107H/P116L, had bilateral visual acuity of 0.20, severe ERG reductions, reduced mutant-protein stability, and altered ubiquitination in HEK293T cells. (li2023doublehyperautofluorescencerings pages 9-9, yang2023pathogenicityandfunctional pages 1-2) | High for genotype–phenotype association; moderate for molecular mechanism. Cohorts are small, and overexpression in HEK293T cells does not fully model photoreceptors. |
| ALS-associated V58L | V58L is associated with motor-neuron vulnerability involving impaired DNA-damage responses, reduced mitochondrial reserve, altered excitability, apoptosis, and post-transcriptional reduction of NEK1. It may act as a risk allele with background-dependent effects rather than a uniformly penetrant mutation. | Patient-derived iPSC motor neurons showed increased apoptosis, reduced maximal respiration/spare respiratory capacity, altered γH2AX responses, and excitability defects. Spontaneous activity occurred in 70% of P1 V58L cells versus 40% of C1 controls; zebrafish experiments included 82 V58L-injected embryos and found reduced movement. NEK1 protein, but not mRNA, declined, and proteasome inhibition restored it toward control levels. (zelina2024alsassociatedc21orf2variant pages 16-18, zelina2024alsassociatedc21orf2variant pages 24-26, zelina2024alsassociatedc21orf2variant pages 18-22, zelina2024alsassociatedc21orf2variant pages 26-27) | Moderate. Some phenotypes were incompletely rescued in isogenic controls; V58L occurs at lower frequency in healthy controls, and attempted NEK1 perturbation caused extensive cell death, limiting causal tests. |
| Translational status | Current implementation is primarily diagnostic and mechanistic: CFAP410 is useful in rare-disease sequencing panels and genotype–phenotype interpretation. The NEK1–CFAP410 interface is a plausible research target, but there is no established CFAP410-directed therapy or validated pharmacological intervention. | Open Targets links CFAP410 to retinal dystrophy, ALS, axial spondylometaphyseal dysplasia, cone–rod dystrophy, and retinal dystrophy with or without macular staphyloma; the highest reported association scores were 0.7453 for axial spondylometaphyseal dysplasia and 0.7339 for retinal dystrophy with or without macular staphyloma. (OpenTargets Search: -CFAP410) | High for diagnostic relevance; low for therapeutic readiness. Disease associations are supported, but target validation, pharmacology, biomarkers, and clinical trials are lacking. |
Table: A compact hierarchy of evidence for human CFAP410 identity, molecular function, localization, disease mechanisms, and translational status. It distinguishes direct human evidence from structural and model-organism inference and highlights remaining uncertainties.
The symbol and description match: CFAP410 is the current approved symbol for the protein historically called chromosome 21 open reading frame 2, C21ORF2. The organism investigated here is Homo sapiens. The 2024 structural paper explicitly equates human CFAP410 with the former C21orf2 designation and distinguishes human protein experiments from studies of Trypanosoma brucei and Chlamydomonas reinhardtii orthologues. (stadler2024thecterminusof pages 1-2)
The domain evidence is consistent with the supplied UniProt/InterPro annotation. Folding predictions and structural work indicate a bimodular architecture: an N-terminal globular LRR-containing domain, a long variable and substantially disordered linker, and a small, conserved C-terminal domain. The human CTD fragment was crystallized at 1.50 Å resolution; CTDs from human, trypanosome, and alga superimposed with backbone RMSD below 0.5 Å. The supplied U2A′/phosphoprotein-32A-like C-terminal annotation should therefore be interpreted as a structural-domain classification, not evidence that CFAP410 possesses phosphatase or other catalytic activity. (stadler2024thecterminusof pages 2-3, stadler2024thecterminusof pages 3-4)
The strongest mechanistic evidence comes from Gregorczyk et al., published May 2023 in Life Science Alliance (DOI). Reciprocal endogenous immunoprecipitation detected the NEK1–CFAP410 complex in ARPE-19, HeLa, HEK293, and U2OS human cells. Association survived stringent washes containing 500 mM NaCl and 1% Triton X-100. Size-exclusion chromatography showed co-elution in a high-molecular-mass complex, and immunodepletion indicated that essentially all detectable CFAP410 in that complex was NEK1-bound, although an additional CFAP410-independent pool of NEK1 remained. Quantitative proteomics identified CFAP410 as the only specific NEK1 interactor enriched at least twofold over knockout controls. (gregorczyk2023functionalcharacterizationof pages 3-4)
These results justify describing CFAP410 as a stable NEK1 regulatory subunit or adaptor, rather than merely a transient interactor. Catalytically active NEK1—but not kinase-dead NEK1-D146A—produced an electrophoretic mobility shift in co-expressed CFAP410, consistent with CFAP410 being phosphorylated directly or indirectly by NEK1. Direct phosphorylation-site assignment and its functional consequences remain unresolved. (gregorczyk2023functionalcharacterizationof pages 8-10, gregorczyk2023functionalcharacterizationof pages 3-4)
NEK1 residues 1160–1286 constitute a necessary and sufficient acidic C21ORF2-interaction domain (CID). AlphaFold/ColabFold modelling predicts that the principal interface joins CFAP410 residues 1–138, encompassing its N-terminal LRR domain, to NEK1 residues approximately 1208–1286. Proposed contacts include an NEK1-Asp1277–CFAP410-Asn24 hydrogen bond and complementary charged residues on both proteins. Charge-reversal mutants reduced co-precipitation, providing experimental support for the model, although an atomic structure of the intact complex is not yet available. (gregorczyk2023functionalcharacterizationof pages 4-5, gregorczyk2023functionalcharacterizationof pages 5-7)
Disease-associated CFAP410 substitutions R73P and L224P weaken NEK1 association; NEK1-D1277A similarly disrupts the complex. These genotype–biochemistry relationships help explain why variants in either gene can produce overlapping ciliopathy, skeletal-dysplasia, and neurological phenotypes. (gregorczyk2023functionalcharacterizationof pages 4-5, gregorczyk2023functionalcharacterizationof pages 3-4)
In human ARPE-19 cells, endogenous CFAP410 and NEK1 co-localize with γ-tubulin at centrosomes and localize to the base of the primary cilium after serum starvation. Earlier microscopy also placed CFAP410 at the basal body in hTERT-RPE1 cells; mouse-photoreceptor observations place it at the base of the connecting cilium. Thus, the best-supported site of its canonical ciliary activity is the centrosome-derived basal body/ciliary base, not the axonemal shaft or extracellular space. (stadler2024thecterminusof pages 1-2, gregorczyk2023functionalcharacterizationof pages 5-7)
The September 2024 Open Biology study (DOI) resolved the CTD as a tetrameric eight-helix bundle assembled from two intercalated dimers. Human Leu224 is buried at the dimer interface and Ala219 contributes to the dimer–dimer interface. Static light scattering showed tetrameric wild-type CTD, dimeric A219E, and monomeric disease-associated L224P; circular dichroism indicated that L224P lost characteristic α-helical structure and became unfolded. (stadler2024thecterminusof pages 8-9, stadler2024thecterminusof pages 4-5)
The decisive localization test was conducted in T. brucei, not human cells. Tetramer-disrupting mutations or CTD deletion abolished basal-body targeting; one mutant retained posterior-tip localization in 63.5% of cytoskeletons, whereas the proline mutant and CTD-deletion constructs lacked detectable cytoskeletal localization. This strongly supports a conserved targeting role for CTD oligomerization, but extrapolation to the precise human basal-body receptor remains an inference. (stadler2024thecterminusof pages 7-8)
Human ARPE-19 CFAP410- or NEK1-knockout cells had dramatically fewer ARL13B-positive primary cilia following serum starvation. Wild-type proteins rescued ciliogenesis, whereas kinase-dead NEK1-D146A, interaction-defective NEK1-D1277A, and interaction-defective CFAP410 mutants did not. The data indicate that both NEK1 catalytic activity and an intact NEK1–CFAP410 complex are required for efficient ciliogenesis. (gregorczyk2023functionalcharacterizationof pages 8-10, gregorczyk2022interactionwithc21orf2 pages 12-14)
The current mechanistic model is that CFAP410 localizes and/or stabilizes the NEK1 functional unit at the ciliary base and may organize access to ciliary substrates. It is not yet established whether CFAP410 activates NEK1 catalytically, recruits a specific substrate, stabilizes NEK1 abundance, or combines all three functions. SPATA7 has been reported in the broader ciliary module, but rigorous endogenous proteomics in unchallenged human cells found NEK1 to be the dominant stable CFAP410 partner; therefore, a constitutive ternary CFAP410–NEK1–SPATA7 complex should not be assumed. (stadler2024thecterminusof pages 8-9, gregorczyk2023functionalcharacterizationof pages 3-4)
CFAP410 is also required for efficient homologous recombination (HR). In traffic-light and DR-GFP reporter assays, baseline gene-conversion frequencies were approximately 1.1% and 4%, respectively. Depletion of either NEK1 or CFAP410 caused large HR defects comparable to BRCA1 depletion; six of eight independent CFAP410 siRNAs produced strong reductions. The changes were not explained simply by altered cell-cycle distribution. (gregorczyk2023functionalcharacterizationof pages 8-10, gregorczyk2022interactionwithc21orf2 pages 12-14)
This establishes pathway involvement but not an intrinsic repair chemistry: CFAP410 is not known to bind or enzymatically modify DNA. The most defensible interpretation is that the NEK1–CFAP410 regulatory unit supports one or more HR steps, potentially through NEK1-dependent phosphorylation or organization of repair factors. The relevant substrate, lesion-recognition step, and possible relationship between centrosomal and nuclear pools remain open questions.
Biallelic CFAP410 variants cause a spectrum including cone–rod dystrophy, retinitis pigmentosa, retinal dystrophy with or without macular/posterior staphyloma, and syndromic disease with axial spondylometaphyseal dysplasia. Open Targets currently assigns its strongest listed CFAP410 association scores to axial spondylometaphyseal dysplasia (0.7453) and retinal dystrophy with or without macular staphyloma (0.7339), followed by retinal dystrophy (0.6354), ALS (0.5926), and cone–rod dystrophy (0.5116). These are evidence-integration scores, not prevalence or penetrance estimates. (OpenTargets Search: -CFAP410)
Li et al., December 2023, Investigative Ophthalmology & Visual Science (DOI), screened 10,530 probands and identified nine affected individuals from eight families with biallelic CFAP410 variants. Six of eight patients examined with ultra-wide imaging had double hyperautofluorescence rings; posterior staphyloma was reported in seven patients assessed by OCT in the full study summary. Three patients were diagnosed with cone–rod dystrophy and six with retinitis pigmentosa. These findings support posterior staphyloma plus double autofluorescence rings as useful diagnostic clues, but the cohort remains small. (li2023doublehyperautofluorescencerings pages 9-9)
Yang et al., published 12 October 2023 in Frontiers in Medicine (DOI), described a six-year-old boy with compound-heterozygous p.Tyr107His and p.Pro116Leu variants, bilateral best-corrected visual acuity of 0.20, outer-retinal atrophy, residual foveal ellipsoid zone, and severely reduced scotopic and photopic ERGs. In transfected HEK293T cells, mutant proteins showed reduced abundance and stability, cell-cycle changes, and altered ubiquitination. This suggests pathogenic proteostasis through the ubiquitin–proteasome system, although overexpression in kidney-derived cells is not equivalent to endogenous photoreceptor biology. (yang2023pathogenicityandfunctional pages 1-2)
For L224P-associated skeletal/retinal disease, the 2024 structural results supply a particularly coherent mechanism: substitution of a buried leucine by proline unfolds the CTD, prevents tetramer formation, weakens NEK1 binding, and disrupts correct basal-body targeting in a conserved model. (stadler2024thecterminusof pages 8-9, stadler2024thecterminusof pages 4-5)
Zelina et al., September 2024, Acta Neuropathologica Communications (DOI), investigated the ALS-associated V58L allele using patient-derived human iPSC motor neurons, isogenic controls, primary mouse neurons, and zebrafish. CFAP410 was detected in human and mouse cortical and spinal motor neurons. V58L increased apoptosis in primary mouse neurons and human iPSC-derived motor neurons, reduced maximal mitochondrial respiration and spare respiratory capacity, altered γH2AX responses after induced DNA damage, and changed electrophysiological behavior. (zelina2024alsassociatedc21orf2variant pages 16-18, zelina2024alsassociatedc21orf2variant pages 14-16)
Mutant motor neurons displayed a mixed excitability phenotype: more spontaneous activity but fewer action potentials under depolarizing stimulation. Spontaneous activity occurred in 70% of P1 V58L cells (32/46), compared with 40% of C1 controls (19/48); the isogenic line remained at 58% (18/31), indicating incomplete rescue for this endpoint. A separate C2-versus-P2 comparison found genotype effects on current–action-potential relationships, action-potential responses, and rheobase with p values of 0.03, 0.0414, and 0.0308, respectively. (zelina2024alsassociatedc21orf2variant pages 18-22, zelina2024alsassociatedc21orf2variant pages 28-28)
V58L appeared to strengthen CFAP410–NEK1 association while reducing NEK1 protein without reducing NEK1 mRNA. Proteasome inhibition restored NEK1 toward control abundance, supporting post-transcriptional degradation. Attempts to establish causality through NEK1 rescue or depletion produced extensive cell death, however, so NEK1 loss cannot yet be assigned as the sole upstream cause of the mitochondrial, repair, and excitability phenotypes. (zelina2024alsassociatedc21orf2variant pages 24-26, zelina2024alsassociatedc21orf2variant pages 26-27)
In zebrafish, experiments included 281 uninjected, 77 GFP-injected, 113 wild-type-CFAP410-injected, and 82 V58L-injected embryos. Developmental deformation occurred in approximately 20% and 30% of wild-type- and V58L-injected embryos, respectively; morphologically normal V58L embryos showed reduced swimming, without a major neuromuscular-junction structural defect. Because V58L occurs at lower frequency in healthy controls and some human-cell phenotypes were incompletely corrected isogenically, the study supports V58L as a background-dependent susceptibility or pathogenic allele, not necessarily a fully penetrant monogenic cause in every carrier. (zelina2024alsassociatedc21orf2variant pages 24-26, zelina2024alsassociatedc21orf2variant pages 18-22)
The immediate clinical application is molecular diagnosis. CFAP410 belongs on inherited-retinal-disease and skeletal-ciliopathy sequencing panels, with biallelic findings interpreted alongside retinal imaging, ERG, posterior staphyloma, skeletal radiography, segregation, and variant-specific functional evidence. The 2023 retinal studies demonstrate its practical use in targeted or exome sequencing and genotype–phenotype resolution. (li2023doublehyperautofluorescencerings pages 9-9, yang2023pathogenicityandfunctional pages 1-2)
For ALS, CFAP410 should currently be treated more cautiously. Functional evidence supports motor-neuron relevance and convergence on NEK1, DNA-damage responses, mitochondria, and excitability, but allele penetrance and genetic-background effects remain uncertain. CFAP410 variants therefore require multidisciplinary classification rather than being treated automatically as deterministic ALS mutations. (zelina2024alsassociatedc21orf2variant pages 24-26, zelina2024alsassociatedc21orf2variant pages 26-27)
The NEK1–CFAP410 interface is a potential research target and a useful mechanistic biomarker axis. Nevertheless, no retrieved evidence establishes a CFAP410-directed drug, validated pharmacodynamic biomarker, gene therapy, or clinical trial. Pharmacologically disrupting the complex could be harmful because loss of association impairs both ciliogenesis and HR; a therapeutic strategy would more plausibly need to restore variant-damaged folding, localization, stability, or balanced NEK1 regulation.
The convergence of reciprocal endogenous biochemistry, CRISPR knockout/rescue, HR reporters, high-resolution crystallography, patient-derived neurons, and human genetics makes the following conclusions strong: CFAP410 is a conserved non-enzymatic interaction protein; it forms a stable complex with NEK1; it localizes to centrosomes and ciliary bases; and it is required for efficient ciliogenesis and HR. (stadler2024thecterminusof pages 4-5, gregorczyk2023functionalcharacterizationof pages 8-10, gregorczyk2023functionalcharacterizationof pages 5-7, gregorczyk2023functionalcharacterizationof pages 3-4)
More tentative are the exact causal chain connecting these functions. It remains unknown whether the ciliary and HR phenotypes reflect one spatially coordinated mechanism or distinct CFAP410 pools. The complete human protein and intact CFAP410–NEK1 complex lack experimental atomic structures. NEK1’s decisive downstream substrates in ciliogenesis and CFAP410-dependent HR have not been identified. The model-organism localization effect of CTD tetramer disruption is persuasive but still requires direct knock-in validation in human ciliated cells. Finally, retinal and ALS datasets are limited by rare alleles, small cohorts, overexpression in some assays, and incomplete isogenic rescue.
Overall, the most precise current annotation is: CFAP410 is an LRR-containing, oligomeric adaptor/regulatory subunit of the NEK1 functional complex that operates chiefly at the centrosome/basal body to support primary-cilium biogenesis and also promotes homologous-recombination DNA repair; pathogenic variants disrupt folding, NEK1 association or regulation, basal-body targeting, and cell-type-specific homeostasis.
References
(OpenTargets Search: -CFAP410): Open Targets Query (-CFAP410, 5 results). Buniello, A. et al. (2025). Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery. Nucleic Acids Research.
(stadler2024thecterminusof pages 8-9): Alexander Stadler, Laryssa V. De Liz, Heloisa B. Gabriel, Santiago Alonso-Gil, Robbie Crickley, Katharina Korbula, Bojan Žagrović, Sue Vaughan, Jack D. Sunter, and Gang Dong. The c-terminus of cfap410 forms a tetrameric helical bundle that is essential for its localization to the basal body. Sep 2024. URL: https://doi.org/10.1098/rsob.240128, doi:10.1098/rsob.240128. This article has 4 citations and is from a peer-reviewed journal.
(gregorczyk2023functionalcharacterizationof pages 8-10): Mateusz Gregorczyk, Graziana Pastore, Ivan Muñoz, Thomas Carroll, Johanna Streubel, Meagan Munro, Pawel Lis, Sven Lange, Frederic Lamoliatte, Thomas Macartney, Rachel Toth, Fiona Brown, James Hastie, Gislene Pereira, Daniel Durocher, and John Rouse. Functional characterization of c21orf2 association with the nek1 kinase mutated in human in diseases. Life Science Alliance, 6:e202201740, May 2023. URL: https://doi.org/10.26508/lsa.202201740, doi:10.26508/lsa.202201740. This article has 26 citations and is from a peer-reviewed journal.
(gregorczyk2023functionalcharacterizationof pages 4-5): Mateusz Gregorczyk, Graziana Pastore, Ivan Muñoz, Thomas Carroll, Johanna Streubel, Meagan Munro, Pawel Lis, Sven Lange, Frederic Lamoliatte, Thomas Macartney, Rachel Toth, Fiona Brown, James Hastie, Gislene Pereira, Daniel Durocher, and John Rouse. Functional characterization of c21orf2 association with the nek1 kinase mutated in human in diseases. Life Science Alliance, 6:e202201740, May 2023. URL: https://doi.org/10.26508/lsa.202201740, doi:10.26508/lsa.202201740. This article has 26 citations and is from a peer-reviewed journal.
(gregorczyk2023functionalcharacterizationof pages 3-4): Mateusz Gregorczyk, Graziana Pastore, Ivan Muñoz, Thomas Carroll, Johanna Streubel, Meagan Munro, Pawel Lis, Sven Lange, Frederic Lamoliatte, Thomas Macartney, Rachel Toth, Fiona Brown, James Hastie, Gislene Pereira, Daniel Durocher, and John Rouse. Functional characterization of c21orf2 association with the nek1 kinase mutated in human in diseases. Life Science Alliance, 6:e202201740, May 2023. URL: https://doi.org/10.26508/lsa.202201740, doi:10.26508/lsa.202201740. This article has 26 citations and is from a peer-reviewed journal.
(stadler2024thecterminusof pages 2-3): Alexander Stadler, Laryssa V. De Liz, Heloisa B. Gabriel, Santiago Alonso-Gil, Robbie Crickley, Katharina Korbula, Bojan Žagrović, Sue Vaughan, Jack D. Sunter, and Gang Dong. The c-terminus of cfap410 forms a tetrameric helical bundle that is essential for its localization to the basal body. Sep 2024. URL: https://doi.org/10.1098/rsob.240128, doi:10.1098/rsob.240128. This article has 4 citations and is from a peer-reviewed journal.
(stadler2024thecterminusof pages 3-4): Alexander Stadler, Laryssa V. De Liz, Heloisa B. Gabriel, Santiago Alonso-Gil, Robbie Crickley, Katharina Korbula, Bojan Žagrović, Sue Vaughan, Jack D. Sunter, and Gang Dong. The c-terminus of cfap410 forms a tetrameric helical bundle that is essential for its localization to the basal body. Sep 2024. URL: https://doi.org/10.1098/rsob.240128, doi:10.1098/rsob.240128. This article has 4 citations and is from a peer-reviewed journal.
(gregorczyk2023functionalcharacterizationof pages 5-7): Mateusz Gregorczyk, Graziana Pastore, Ivan Muñoz, Thomas Carroll, Johanna Streubel, Meagan Munro, Pawel Lis, Sven Lange, Frederic Lamoliatte, Thomas Macartney, Rachel Toth, Fiona Brown, James Hastie, Gislene Pereira, Daniel Durocher, and John Rouse. Functional characterization of c21orf2 association with the nek1 kinase mutated in human in diseases. Life Science Alliance, 6:e202201740, May 2023. URL: https://doi.org/10.26508/lsa.202201740, doi:10.26508/lsa.202201740. This article has 26 citations and is from a peer-reviewed journal.
(stadler2024thecterminusof pages 1-2): Alexander Stadler, Laryssa V. De Liz, Heloisa B. Gabriel, Santiago Alonso-Gil, Robbie Crickley, Katharina Korbula, Bojan Žagrović, Sue Vaughan, Jack D. Sunter, and Gang Dong. The c-terminus of cfap410 forms a tetrameric helical bundle that is essential for its localization to the basal body. Sep 2024. URL: https://doi.org/10.1098/rsob.240128, doi:10.1098/rsob.240128. This article has 4 citations and is from a peer-reviewed journal.
(gregorczyk2022interactionwithc21orf2 pages 12-14): Mateusz Gregorczyk, Graziana Pastore, Pawel Lis, Sven Lange, Frederic Lamoliatte, Thomas Macartney, Rachel Toth, Fiona Brown, James Hastie, Daniel Durocher, and John Rouse. Interaction with c21orf2 controls the cellular functioning of the nek1 kinase. bioRxiv, Aug 2022. URL: https://doi.org/10.1101/2022.08.31.505651, doi:10.1101/2022.08.31.505651. This article has 0 citations.
(stadler2024thecterminusof pages 7-8): Alexander Stadler, Laryssa V. De Liz, Heloisa B. Gabriel, Santiago Alonso-Gil, Robbie Crickley, Katharina Korbula, Bojan Žagrović, Sue Vaughan, Jack D. Sunter, and Gang Dong. The c-terminus of cfap410 forms a tetrameric helical bundle that is essential for its localization to the basal body. Sep 2024. URL: https://doi.org/10.1098/rsob.240128, doi:10.1098/rsob.240128. This article has 4 citations and is from a peer-reviewed journal.
(stadler2024thecterminusof pages 4-5): Alexander Stadler, Laryssa V. De Liz, Heloisa B. Gabriel, Santiago Alonso-Gil, Robbie Crickley, Katharina Korbula, Bojan Žagrović, Sue Vaughan, Jack D. Sunter, and Gang Dong. The c-terminus of cfap410 forms a tetrameric helical bundle that is essential for its localization to the basal body. Sep 2024. URL: https://doi.org/10.1098/rsob.240128, doi:10.1098/rsob.240128. This article has 4 citations and is from a peer-reviewed journal.
(li2023doublehyperautofluorescencerings pages 9-9): Xueqing Li, Yingwei Wang, Junwen Wang, Panfeng Wang, and Qingjiong Zhang. Double hyperautofluorescence rings as a sign ofcfap410-related retinopathy. Investigative Opthalmology & Visual Science, 64:44, Dec 2023. URL: https://doi.org/10.1167/iovs.64.15.44, doi:10.1167/iovs.64.15.44. This article has 3 citations.
(yang2023pathogenicityandfunctional pages 1-2): Shaoqing Yang, Ya Li, Lin Yang, Qingge Guo, Ya You, and Bo Lei. Pathogenicity and functional analysis of cfap410 mutations causing cone-rod dystrophy with macular staphyloma. Frontiers in Medicine, Oct 2023. URL: https://doi.org/10.3389/fmed.2023.1216427, doi:10.3389/fmed.2023.1216427. This article has 6 citations.
(zelina2024alsassociatedc21orf2variant pages 16-18): Pavol Zelina, Anna Aster de Ruiter, Christy Kolsteeg, Ilona van Ginneken, Harmjan R. Vos, Laura F. Supiot, Boudewijn M. T. Burgering, Frank J. Meye, Jan H. Veldink, Leonard H. van den Berg, and R. Jeroen Pasterkamp. Als-associated c21orf2 variant disrupts dna damage repair, mitochondrial metabolism, neuronal excitability and nek1 levels in human motor neurons. Acta Neuropathologica Communications, Sep 2024. URL: https://doi.org/10.1186/s40478-024-01852-6, doi:10.1186/s40478-024-01852-6. This article has 17 citations and is from a peer-reviewed journal.
(zelina2024alsassociatedc21orf2variant pages 24-26): Pavol Zelina, Anna Aster de Ruiter, Christy Kolsteeg, Ilona van Ginneken, Harmjan R. Vos, Laura F. Supiot, Boudewijn M. T. Burgering, Frank J. Meye, Jan H. Veldink, Leonard H. van den Berg, and R. Jeroen Pasterkamp. Als-associated c21orf2 variant disrupts dna damage repair, mitochondrial metabolism, neuronal excitability and nek1 levels in human motor neurons. Acta Neuropathologica Communications, Sep 2024. URL: https://doi.org/10.1186/s40478-024-01852-6, doi:10.1186/s40478-024-01852-6. This article has 17 citations and is from a peer-reviewed journal.
(zelina2024alsassociatedc21orf2variant pages 18-22): Pavol Zelina, Anna Aster de Ruiter, Christy Kolsteeg, Ilona van Ginneken, Harmjan R. Vos, Laura F. Supiot, Boudewijn M. T. Burgering, Frank J. Meye, Jan H. Veldink, Leonard H. van den Berg, and R. Jeroen Pasterkamp. Als-associated c21orf2 variant disrupts dna damage repair, mitochondrial metabolism, neuronal excitability and nek1 levels in human motor neurons. Acta Neuropathologica Communications, Sep 2024. URL: https://doi.org/10.1186/s40478-024-01852-6, doi:10.1186/s40478-024-01852-6. This article has 17 citations and is from a peer-reviewed journal.
(zelina2024alsassociatedc21orf2variant pages 26-27): Pavol Zelina, Anna Aster de Ruiter, Christy Kolsteeg, Ilona van Ginneken, Harmjan R. Vos, Laura F. Supiot, Boudewijn M. T. Burgering, Frank J. Meye, Jan H. Veldink, Leonard H. van den Berg, and R. Jeroen Pasterkamp. Als-associated c21orf2 variant disrupts dna damage repair, mitochondrial metabolism, neuronal excitability and nek1 levels in human motor neurons. Acta Neuropathologica Communications, Sep 2024. URL: https://doi.org/10.1186/s40478-024-01852-6, doi:10.1186/s40478-024-01852-6. This article has 17 citations and is from a peer-reviewed journal.
(zelina2024alsassociatedc21orf2variant pages 14-16): Pavol Zelina, Anna Aster de Ruiter, Christy Kolsteeg, Ilona van Ginneken, Harmjan R. Vos, Laura F. Supiot, Boudewijn M. T. Burgering, Frank J. Meye, Jan H. Veldink, Leonard H. van den Berg, and R. Jeroen Pasterkamp. Als-associated c21orf2 variant disrupts dna damage repair, mitochondrial metabolism, neuronal excitability and nek1 levels in human motor neurons. Acta Neuropathologica Communications, Sep 2024. URL: https://doi.org/10.1186/s40478-024-01852-6, doi:10.1186/s40478-024-01852-6. This article has 17 citations and is from a peer-reviewed journal.
(zelina2024alsassociatedc21orf2variant pages 28-28): Pavol Zelina, Anna Aster de Ruiter, Christy Kolsteeg, Ilona van Ginneken, Harmjan R. Vos, Laura F. Supiot, Boudewijn M. T. Burgering, Frank J. Meye, Jan H. Veldink, Leonard H. van den Berg, and R. Jeroen Pasterkamp. Als-associated c21orf2 variant disrupts dna damage repair, mitochondrial metabolism, neuronal excitability and nek1 levels in human motor neurons. Acta Neuropathologica Communications, Sep 2024. URL: https://doi.org/10.1186/s40478-024-01852-6, doi:10.1186/s40478-024-01852-6. This article has 17 citations and is from a peer-reviewed journal.