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In the laboratory we study mechanisms of pathogenesis in the muscular dystrophies, and in the clinic setting, we seek to bring novel therapies to patient-based clinical trials. The most common form of muscular dystrophy are the dystrophinopathies, which include the more severe Duchenne Muscular Dystrophy (DMD) and the milder Becker Muscular Dystrophy (BMD). Both DMD and BMD are caused by mutations in the DMD gene, encoding the dystrophin protein. The major determinant of severity is whether the mutation results in an mRNA that maintains an open reading frame that allows translation of a functional amino- and carboxy terminus, with little impact due to the size of the central rod domain deletion. In our lab, we study genotype/phenotype correlations with a specific eye toward exceptions to this reading frame rule, and seek to determine what these mutations tell us about dystrophin function and DMD disease pathogenesis. As one example, we have recently defined the first founder disease allele in the DMD gene; this mutation, along with other nonsense mutations in the 5’ end of the gene, is associated with very mild BMD, and we have recently defined the alternate translational initiation sites within DMD exon 6 responsible for phenotypic rescue. Other mutations identified from patients have led to ongoing projects that seek to define the function of the dystrophin ZZ domain, and to determine the role of nonsense-mutation sequence context in rescuing the DMD phenotype by altered mRNA splicing. The long term goal is to determine potential novel therapeutic pathways by improving understanding of muscular dystrophy pathogenesis and dystrophin function.
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Craig McDonald, Eric Camino,Rafael Escandon,Richard S Finkel, Ryan Fischer,Kevin Flanigan, Pat Furlong, Rose Juhasz, Ann S Martin, Chet Villa,H Lee Sweeney
Journal of neuromuscular diseasesno. 2 (2024): 499-523
Jessica A. Herstine, Pi-Kai Chang, Sergiy Chornyy,Tamara J. Stevenson, Alex C. Sunshine, Ksenia Nokhrina, Jessica Rediger, Julia Wentz,Tatyana A. Vetter, Erika Scholl, Caleb Holaway, Nettie K. Pyne,
Molecular Therapy (2024)
Anthony A. Stephenson,Stefan Nicolau,Tatyana A. Vetter,Gabrielle P. Dufresne,Emma C. Frair, Jessica E. Sarff, Gregory L. Wheeler,Benjamin J. Kelly,Peter White,Kevin M. Flanigan
J. Bonkowsky, J. Herstine, P-K Chang, S. Chornyy, K. Nokhrina, J. Redinger, J. Wentz,N. Pyne, C. Holaway, A. Sunshine, E. Scholl,T. Vetter,
ANNALS OF NEUROLOGY (2023): S34-S34
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Liubov V. Gushchina,Adrienne Bradley, Gabrielle Dufresne,Tatyana Vetter,Emma Frair, Jacob Lay,Natalie Rohan,Greg Cox,Scot A. Wolfe, Charles Emerson,Kevin M. Flanigan
MOLECULAR THERAPYno. 4 (2023): 660-661
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Frontiers in cell and developmental biology (2023): 1181040
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S. Nicolau, A. Meyer,T. Vetter, L. Lowes, L. Alfano,N. Reash, M. Iammarino, E. Frair,C. Tsao,A. Connolly,J. Mendell,M. Waldrop,
NEUROMUSCULAR DISORDERS (2023): S66-S67
Muscle & nerveno. 6 (2023): 833-840
Liubov Gushchina,Adrienne J. Bradley,Tatyana A. Vetter, Jacob W. Lay, Natalie L. Rohan,Emma C. Frair,Nicolas Wein,Kevin M. Flanigan
MOLECULAR THERAPY METHODS & CLINICAL DEVELOPMENT (2023): 101144-101144
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