In Vitro Restoration of Functional SMN Protein in Human Trophoblast Cells Affected by Spinal Muscular Atrophy by Small Fragment Homologous Replacement
Sangiuolo F, Filareto A, Spitalieri P, Scaldaferri ML, Mango R, Bruscia E, Citro G, Brunetti E, De Felici M, Novelli G. In Vitro Restoration of Functional SMN Protein in Human Trophoblast Cells Affected by Spinal Muscular Atrophy by Small Fragment Homologous Replacement. Human Gene Therapy 2005, 16: 869-880. PMID: 16000068, DOI: 10.1089/hum.2005.16.869.Peer-Reviewed Original ResearchMeSH KeywordsCells, CulturedChorionic VilliCyclic AMP Response Element-Binding ProteinGene ExpressionGene TargetingGenotypeHumansImmunohistochemistryMicroinjectionsMuscular Atrophy, SpinalNerve Tissue ProteinsPhenotypePoint MutationRNA-Binding ProteinsSMN Complex ProteinsSurvival of Motor Neuron 1 ProteinSurvival of Motor Neuron 2 ProteinTransfectionTrophoblastsConceptsSmall fragment homologous replacementSMN proteinHomologous replacementFunctional SMN proteinExon 7SMN gene expressionFull-length SMN mRNASpinal muscular atrophyGene modification approachesDuplicate genesGenomic organizationMRNA maturationMotor neuron 1 geneGene expressionRNA dataHuman trophoblast cellsUntransfected controlsGenesTarget modificationProteinSMA cellsGenomeFetal chorionic villiReal-time polymerase chain reactionSMN2 geneIn Vitro Restoration of Functional SMN Protein in Human Trophoblast Cells Affected by Spinal Muscular Atrophy by Small Fragment Homologous Replacement
Sangiuolo F, Filareto A, Spitalieri P, Scaldaferri M, Mango R, Bruscia E, Citro G, Brunetti E, De Felici M, Novelli G. In Vitro Restoration of Functional SMN Protein in Human Trophoblast Cells Affected by Spinal Muscular Atrophy by Small Fragment Homologous Replacement. Human Gene Therapy 2005, 0: 050701034702010. DOI: 10.1089/hum.2005.16.ft-84.Peer-Reviewed Original Research