2020
Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain
Hinbest AJ, Eldirany SA, Ho M, Bunick CG. Molecular Modeling of Pathogenic Mutations in the Keratin 1B Domain. International Journal Of Molecular Sciences 2020, 21: 6641. PMID: 32927888, PMCID: PMC7555247, DOI: 10.3390/ijms21186641.Peer-Reviewed Original ResearchHumansKeratin-1Keratoderma, Palmoplantar, EpidermolyticLiver DiseasesModels, MolecularMutation, MissenseProtein Structure, Quaternary
2019
Alterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E
Lilly E, Strickler M, Milstone LM, Bunick CG. Alterations in connexin 26 protein structure from lethal keratitis-ichthyosis-deafness syndrome mutations A88V and G45E. Journal Of Dermatological Science 2019, 95: 119-122. PMID: 31331740, PMCID: PMC7263394, DOI: 10.1016/j.jdermsci.2019.07.002.Peer-Reviewed Original ResearchMeSH KeywordsCarbon DioxideConnexin 26ConnexinsCrystallography, X-RayGenes, LethalHumansKeratitisModels, MolecularMutationProtein StabilityProtein Structure, QuaternaryThermodynamicsConceptsProtein structureHuman keratin 1/10‐1B tetramer structures reveal a knob‐pocket mechanism in intermediate filament assembly
Eldirany SA, Ho M, Hinbest AJ, Lomakin IB, Bunick CG. Human keratin 1/10‐1B tetramer structures reveal a knob‐pocket mechanism in intermediate filament assembly. The EMBO Journal 2019, 38: embj2018100741. PMID: 31036554, PMCID: PMC6545558, DOI: 10.15252/embj.2018100741.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SubstitutionCircular DichroismCrystallography, X-RayCytoskeletonDynamic Light ScatteringHumansHydrophobic and Hydrophilic InteractionsIntermediate Filament ProteinsKeratin-1Keratin-10Models, MolecularMutation, MissenseProtein FoldingProtein Interaction Domains and MotifsProtein MultimerizationProtein Structure, QuaternaryProtein Structure, SecondarySkin DiseasesConceptsFilament assemblyN-terminal hydrophobic pocketIntermediate filament assemblyTetramer assemblyÅ structureÅ resolutionCircular dichroism measurementsTetramer formationAssembly mechanismHydrophobic faceHydrophobic pocketSecondary structureOctamer structureEpidermolytic palmoplantar keratodermaKeratin filamentsIntermediate filamentsMutationsPathogenic mutationsTetramer structureDichroism measurementsAtomic resolutionAssemblyBiochemical determinantsKeratin 1/10Tetramer