Lymphocyte cytosolic protein 1 (L-plastin) I232F mutation impairs granulocytic proliferation and causes neutropenia
Mahat U, Garg B, Yang CY, Mehta H, Hanna R, Rogers HJ, Flagg A, Ivanov AI, Corey SJ. Lymphocyte cytosolic protein 1 (L-plastin) I232F mutation impairs granulocytic proliferation and causes neutropenia. Blood Advances 2022, 6: 2581-2594. PMID: 34991157, PMCID: PMC9043934, DOI: 10.1182/bloodadvances.2021006398.Peer-Reviewed Original ResearchMeSH KeywordsActinsCell ProliferationChildHeLa CellsHumansLymphocytesMembrane GlycoproteinsMicrofilament ProteinsMutationNeutropeniaConceptsLymphocyte cytosolic protein 1Impaired cell motilityDiffuse intracellular localizationUnfolded protein responseCytosolic protein 1Level of genesCell cycle arrestActin regulationG2/M phaseNew genesActin cytoskeletonActin dynamicsCell motilityProtein responseSubcellular fractionationMutant formsF-actinIntracellular localizationWhole-exome sequencingCycle arrestHeLa cellsMissense mutationsHeterozygous missense mutationM phaseLCP1