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Karen Sperle

Alfred I. duPont Hospital for Children

13

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469

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Distinct patterns of complex rearrangements and a mutational signature of microhomeology are frequently observed in PLP1 copy number gain structural variants

2019 Genome Medicine
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Morpholino Antisense Oligomers as a Potential Therapeutic Option for the Correction of Alternative Splicing in PMD, SPG2, and HEMS

2018 Molecular therapy. Nucleic acids
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Complex Genomic Rearrangements at the PLP1 Locus Include Triplication and Quadruplication

2015 PLOS Genetics
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PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing

2014 Human Molecular Genetics
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Gait Abnormalities and Progressive Myelin Degeneration in a New Murine Model of Pelizaeus-Merzbacher Disease with Tandem Genomic Duplication

2013 The Journal of Neuroscience
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Deletion of a splicing enhancer disrupts PLP1/DM20 ratio and myelin stability.

2008 Experimental Neurology
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Splice-site contribution in alternative splicing of PLP1 and DM20: molecular studies in oligodendrocytes.

2006 Human Mutation
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Spastic paraplegia type 2 associated with axonal neuropathy and apparent PLP1 position effect.

2006 Annals of Neurology
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PLP1 alternative splicing in differentiating oligodendrocytes: Characterization of an exonic splicing enhancer

2006 Journal of Cellular Biochemistry
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Heterogeneous duplications in patients with Pelizaeus-Merzbacher disease suggest a mechanism of coupled homologous and nonhomologous recombination.

2005 American Journal of Human Genetics
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Citations (94)