E
Elliot J. Androphy
Researcher at Indiana University
Publications - 206
Citations - 14369
Elliot J. Androphy is an academic researcher from Indiana University. The author has contributed to research in topics: Spinal muscular atrophy & SMA*. The author has an hindex of 59, co-authored 201 publications receiving 13581 citations. Previous affiliations of Elliot J. Androphy include Biogen Idec & University of Rochester.
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Journal ArticleDOI
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
TL;DR: The failure of SMN2 to fully compensate for SMN1 and protect from SMA is due to a nucleotide exchange (C/T) that attenuates activity of an exonic enhancer.
Journal ArticleDOI
A Single Nucleotide Difference That Alters Splicing Patterns Distinguishes the SMA Gene SMN1 From the Copy Gene SMN2
Umrao R. Monani,Christian L. Lorson,D. William Parsons,Thomas W. Prior,Elliot J. Androphy,Arthur H.M. Burghes,John Douglas Mcpherson +6 more
TL;DR: This study completely sequenced and compared genomic clones containing the SMN genes and suggests that the exon 7 nucleotide change affects the activity of an exon splice enhancer which causes SMA.
Journal ArticleDOI
The Survival Motor Neuron Protein in Spinal Muscular Atrophy
Daniel D. Coovert,Thanh Le,Patricia E. McAndrew,John Strasswimmer,Thomas O. Crawford,Jerry R. Mendell,Susan E. Coulson,Elliot J. Androphy,Thomas W. Prior,Arthur H.M. Burghes +9 more
TL;DR: Investigation of fibroblasts from SMA patients with various clinical severities of SMA showed a moderate reduction in the amount of SMN protein, particularly in type I (most severe) patients, which is consistent with features of this motor neuron disease.
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SMN oligomerization defect correlates with spinal muscular atrophy severity.
Christian L. Lorson,John Strasswimmer,Jun Mei Yao,James D. Baleja,E. Hahnen,Brunhilde Wirth,Thanh Le,Arthur H.M. Burghes,Elliot J. Androphy +8 more
TL;DR: These findings identify decreased SMN self-association as a biochemical defect in SMA, and imply that disease severity is proportional to the intracellu-lar concentration of oligomerization-competent SMN proteins.
Journal ArticleDOI
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN.
TL;DR: It is shown that an AG-rich exonic splice enhancer in the center of SMN exon 7 is required for inclusion of exon 6, and this region functioned as an ESE in a heterologous context, supporting efficient in vitro splicing of the Drosophila double-sex gene.