2007
Identification and Characterization of α-Spectrin Mutations Associated with Inherited Hemolytic Anemia.
Tolpinrud W, Gaetani M, Maksimova Y, Mootien S, Harper S, Forget B, Speicher D, Gallagher P. Identification and Characterization of α-Spectrin Mutations Associated with Inherited Hemolytic Anemia. Blood 2007, 110: 1706. DOI: 10.1182/blood.v110.11.1706.1706.Peer-Reviewed Original ResearchWild typeMissense mutationsSelf-association siteMembrane skeletonΑ-spectrinHereditary elliptocytosisProline substitutionSpectrin peptidesHereditary pyropoikilocytosisCommon protein polymorphismHPLC gel filtrationHuman disease pathogenesisCharacterization of variantsErythrocyte membrane skeletonMajor structural componentTriple-helical configurationMembrane biologyDifferent missense mutationsSpectrin gene
1996
The lethal hemolytic mutation in beta I sigma 2 spectrin Providence yields a null phenotype in neonatal skeletal muscle.
Weed SA, Stabach PR, Oyer CE, Gallagher PG, Morrow JS. The lethal hemolytic mutation in beta I sigma 2 spectrin Providence yields a null phenotype in neonatal skeletal muscle. Laboratory Investigation 1996, 74: 1117-29. PMID: 8667615.Peer-Reviewed Original ResearchConceptsBeta ISpectrin skeletonSkeletal muscleMost such mutationsGene transferAdult mouse skeletal muscleDominant-negative fashionErythroid lineage cellsNeonatal skeletal muscleCultured muscle cellsAlpha beta heterodimersErythrocyte shape abnormalitiesMuscle cellsMouse skeletal muscleDefective proteinSpectrin geneAlternative transcriptsHemolytic phenotypeCDNA constructsNull phenotypeC2C12 myoblastsBeta heterodimerSpectrin mutationsSedimentation velocity analysisIntracellular distribution
1994
Localization of the human α-fodrin gene (SPTAN1) to 9q33→q34 by fluorescence in situ hybridization
Upender M, Gallagher PG, Moon RT, Ward DC, Forget BG. Localization of the human α-fodrin gene (SPTAN1) to 9q33→q34 by fluorescence in situ hybridization. Cytogenetic And Genome Research 1994, 66: 39-41. PMID: 8275706, DOI: 10.1159/000133660.Peer-Reviewed Original ResearchMeSH KeywordsCarrier ProteinsCell LineChromosome MappingChromosomes, Human, Pair 22Chromosomes, Human, Pair 9Gene LibraryHumansIn Situ Hybridization, FluorescenceLeukemia, Myelogenous, Chronic, BCR-ABL PositiveLymphocyte ActivationLymphocytesMicrofilament ProteinsMultigene FamilySpectrinTranslocation, GeneticTumor Cells, CulturedConceptsSitu hybridizationCell linesTranslocation breakpoint regionChronic myelogenous leukemia cell lineHuman chronic myelogenous leukemia cell lineSpectrin geneMyelogenous leukemia cell lineLeukemia cell linesGenesTranslocation breakpointsChromosomesBreakpoint regionHybridizationLociFluorescencePh1 chromosomeLinesPhiladelphia chromosomeK562BreakpointsLocalizationMembers