Search Results - "Carter, Helmut A"

HNRNPA1-induced spliceopathy in a transgenic mouse model of myotonic dystrophy by Li, Moyi, Zhuang, Yan, Batra, Ranjan, Thomas, James D., Li, Mao, Nutter, Curtis A., Scotti, Marina M., Carter, Helmut A., Wang, Zhan Jun, Huang, Xu-Sheng, Pu, Chuan Qiang, Swanson, Maurice S., Xie, Wei

“…Studies on myotonic dystrophy type 1 (DM1) have led to the RNA-mediated disease model for hereditary disorders caused by noncoding microsatellite expansions…”
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Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1 by Nutter, Curtis A, Kidd, Benjamin M, Carter, Helmut A, Hamel, Johanna I, Mackie, Philip M, Kumbkarni, Nayha, Davenport, Mackenzie L, Tuyn, Dana M, Gopinath, Adithya, Creigh, Peter D, Sznajder, Łukasz J, Wang, Eric T, Ranum, Laura P W, Khoshbouei, Habibeh, Day, John W, Sampson, Jacinda B, Prokop, Stefan, Swanson, Maurice S

“…Abstract Myotonic dystrophy type 1 is a dominantly inherited multisystemic disease caused by CTG tandem repeat expansions in the DMPK 3′ untranslated region…”
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Cell-type-specific dysregulation of RNA alternative splicing in short tandem repeat mouse knockin models of myotonic dystrophy by Nutter, Curtis A, Bubenik, Jodi L, Oliveira, Ruan, Ivankovic, Franjo, Sznajder, Łukasz J, Kidd, Benjamin M, Pinto, Belinda S, Otero, Brittney A, Carter, Helmut A, Vitriol, Eric A, Wang, Eric T, Swanson, Maurice S

“…Short tandem repeats (STRs) are prone to expansion mutations that cause multiple hereditary neurological and neuromuscular diseases. To study pathomechanisms…”
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