2019
Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy
Brodehl A, Rezazadeh S, Williams T, Munsie NM, Liedtke D, Oh T, Ferrier R, Shen Y, Jones SJM, Stiegler AL, Boggon TJ, Duff HJ, Friedman JM, Gibson WT, Consortium F, Childs SJ, Gerull B. Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy. Translational Research 2019, 208: 15-29. PMID: 30802431, PMCID: PMC7412573, DOI: 10.1016/j.trsl.2019.02.004.Peer-Reviewed Original ResearchConceptsIntegrin-linked kinase geneFirst LIM domainIntegrin-linked kinaseLIM domainsActin cytoskeletonRat myoblast cellsZebrafish showKinase geneCytoplasmic localizationDisease genesArrhythmogenic cardiomyopathyLife-threatening ventricular arrhythmiasMyoblast cellsJunctional proteinsHuman variantsILKSudden cardiac deathGenesFibro-fatty replacementNormal cardiac functionHalf of casesFunctional evidenceHeart muscle disorderMissense variantsDe novo
2018
The N-Terminal GTPase Domain of p190RhoGAP Proteins Is a PseudoGTPase
Stiegler AL, Boggon TJ. The N-Terminal GTPase Domain of p190RhoGAP Proteins Is a PseudoGTPase. Structure 2018, 26: 1451-1461.e4. PMID: 30174148, PMCID: PMC6249675, DOI: 10.1016/j.str.2018.07.015.Peer-Reviewed Original ResearchConceptsP190RhoGAP proteinsN-terminal GTPase domainProtein-protein interaction domainsNucleotide exchange factorsCanonical GTPaseGTPase domainKnown proteinsEffector proteinsExchange factorInteraction domainNucleotide bindingMutational analysisCritical regulatorGTP-MgGTPProteinBiochemical analysisImportant groupBindingDomainPseudoenzymesGTPase