2021
Age-dependent ataxia and neurodegeneration caused by an αII spectrin mutation with impaired regulation of its calpain sensitivity
Miazek A, Zalas M, Skrzymowska J, Bogin BA, Grzymajło K, Goszczynski TM, Levine ZA, Morrow JS, Stankewich MC. Age-dependent ataxia and neurodegeneration caused by an αII spectrin mutation with impaired regulation of its calpain sensitivity. Scientific Reports 2021, 11: 7312. PMID: 33790315, PMCID: PMC8012654, DOI: 10.1038/s41598-021-86470-1.Peer-Reviewed Original ResearchConceptsSpectrin cleavageCalpain cleavage sitesCalcium-activated proteaseGlobal neurodegenerationTraumatic encephalopathyC57BL/6J miceDendritic integrityExcessive activationNeuronal integrityProgressive ataxiaImpaired regulationCalpain activationCalpain sensitivityPhysiologic significanceNeurodegenerative diseasesNeuronal developmentCalpain proteolysisCalpain proteasesCalcium-dependent bindingAtaxiaNeurodegenerationCalpainActivated calpainSubstrate-level regulationCaM affinity
2015
Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin
Ambrosino P, Alaimo A, Bartollino S, Manocchio L, De Maria M, Mosca I, Gomis-Perez C, Alberdi A, Scambia G, Lesca G, Villarroel A, Taglialatela M, Soldovieri MV. Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin. Biochimica Et Biophysica Acta 2015, 1852: 1856-1866. PMID: 26073431, DOI: 10.1016/j.bbadis.2015.06.012.Peer-Reviewed Original ResearchBenign familial neonatal seizuresKv7.2/Kv7.3 channelsFunctional modulationPatch-clamp recordingsPotential therapeutic approachFamilial neonatal seizuresComplete functional lossNeonatal seizuresEpileptic encephalopathyPathogenetic mechanismsTherapeutic approachesChannel dysfunctionCaM affinityEpilepsy-causing mutationsKv7.3 channelsFunctional lossCaM overexpressionFunctional changesEpileptic diseasePhenotypic presentationChannel subunitsKCNQ2 geneKv7.2Significant alterationsC-terminal fragment
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