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ProteomicsIdentification of proteins interacting with the NEK1-C21ORF2 complex
We and others have found that the NEK1 kinase interacts with the C21ORF2 protein. Gel filtration indicated there may be other proteins in the complex. We tried to identify such proteins by immunoprecipitating endogenous NEK1 from cells and subjecting the precipitates to mass spectrometry. We also im...
ORGANISM(S): Homo sapiens (Human) 
2023-05-09 | PXD036410 | Pride
C21orf2 Dna repair Ciliogenesis Nek1 Kinase 
UnknownAxial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.
Not available
S-EPMC4790905 | biostudies-literature
UnknownThe NEK1 interactor, C21ORF2, is required for efficient DNA damage repair.
Not available
S-EPMC4581587 | biostudies-literature
UnknownC21ORF2 mutations point towards primary cilia dysfunction in amyotrophic lateral sclerosis.
Not available
S-EPMC11884758 | biostudies-literature
UnknownFunctional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases.
Not available
S-EPMC10185812 | biostudies-literature
UnknownALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.
Not available
S-EPMC11373222 | biostudies-literature
UnknownAn Amyotrophic Lateral Sclerosis-Associated Mutant of C21ORF2 Is Stabilized by NEK1-Mediated Hyperphosphorylation and the Inability to Bind FBXO3.
Not available
S-EPMC7481237 | biostudies-literature
UnknownC21orf2 variants causing inherited retinal disease: A review of what we know and a report of two new suspected cases.
Not available
S-EPMC10025249 | biostudies-literature
ProteomicsComparative interactome analyses of ALS proteins help define the pathogenic effects of mutant C21ORF2 in motor neurons.
Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disease leading to motor neuron loss. It has a strong genetic contribution, but most ALS-associated gene mutations remain poorly characterized. Therefore, we performed comparative interactome analyses of recently discovered ALS-...
ORGANISM(S): Mus musculus (Mouse) 
2024-09-05 | PXD051922 | Pride
Amyotrophic lateral sclerosis/ genetic mutation/ interactor/ ipsc/ motor neuron 
UnknownAn siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Not available
S-EPMC4536769 | biostudies-literature
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