Abstract

OVERVIEW The ongoing major objective of our University of Rochester Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center (MDCRC) is to integrate basic, translational, and clinical research on the two most common forms of adult muscular dystrophy, myotonic dystrophy (DM1 &DM2) and facioscapulohumeral muscular dystrophy (FSHD). To pursue this objective, in our currently funded Wellstone Center research, investigators have carried out three scientific projects and have established two scientific core facilities (Imaging Core &Repository Core) as well as having developed a smoothly operating Administrative Core.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center--Cooperative Agreements (U54)
Project #
5U54NS048843-10
Application #
8381147
Study Section
Special Emphasis Panel (ZAR1-KM-J)
Project Start
Project End
Budget Start
2012-09-01
Budget End
2013-08-31
Support Year
10
Fiscal Year
2012
Total Cost
$130,511
Indirect Cost
$45,764

  Institution

Name
University of Rochester
Department
Type
DUNS #
041294109
City
Rochester
State
NY
Country
United States
Zip Code
14627

  Publications

Auerbach, David S; Biton, Yitschak; Polonsky, Bronislava et al. (2018) Risk of cardiac events in Long QT syndrome patients when taking antiseizure medications. Transl Res 191:81-92.e7
Sznajder, ?ukasz J; Thomas, James D; Carrell, Ellie M et al. (2018) Intron retention induced by microsatellite expansions as a disease biomarker. Proc Natl Acad Sci U S A 115:4234-4239
Wood, Libby; Bassez, Guillaume; Bleyenheuft, Corinne et al. (2018) Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease. Orphanet J Rare Dis 13:155
Carrell, Samuel T; Tang, Zhenzhi; Mohr, Sabine et al. (2018) Detection of expanded RNA repeats using thermostable group II intron reverse transcriptase. Nucleic Acids Res 46:e1
Trembley, Michael A; Quijada, Pearl; Agullo-Pascual, Esperanza et al. (2018) Mechanosensitive Gene Regulation by Myocardin-Related Transcription Factors Is Required for Cardiomyocyte Integrity in Load-Induced Ventricular Hypertrophy. Circulation 138:1864-1878
Jauvin, Dominic; Chrétien, Jessina; Pandey, Sanjay K et al. (2017) Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice. Mol Ther Nucleic Acids 7:465-474
Skov, Martin; Dirksen, Robert T (2017) Trojan triplets: RNA-based pathomechanisms for muscle dysfunction in Huntington's disease. J Gen Physiol 149:49-53
Pinto, Belinda S; Saxena, Tanvi; Oliveira, Ruan et al. (2017) Impeding Transcription of Expanded Microsatellite Repeats by Deactivated Cas9. Mol Cell 68:479-490.e5
Thornton, Charles A; Wang, Eric; Carrell, Ellie M (2017) Myotonic dystrophy: approach to therapy. Curr Opin Genet Dev 44:135-140
Gadalla, S M; Hilbert, J E; Martens, W B et al. (2017) Pigmentation phenotype, photosensitivity and skin neoplasms in patients with myotonic dystrophy. Eur J Neurol 24:713-718

Showing the most recent 10 out of 88 publications