M
Mila E. McCurrach
Researcher at Massachusetts Institute of Technology
Publications - 4
Citations - 3726
Mila E. McCurrach is an academic researcher from Massachusetts Institute of Technology. The author has contributed to research in topics: Myotonin-protein kinase & Myotonic dystrophy. The author has an hindex of 4, co-authored 4 publications receiving 3530 citations. Previous affiliations of Mila E. McCurrach include Cold Spring Harbor Laboratory & University of Massachusetts Amherst.
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Journal ArticleDOI
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
J. David Brook,Mila E. McCurrach,H G Harley,Alan Buckler,Deanna M. Church,Hiroyuki Aburatani,Kent W. Hunter,Vincent P. Stanton,Jean Paul Thirion,Thomas J. Hudson,Robert L. Sohn,Boris V. Zemelman,Russell G. Snell,S A Rundle,Steve Crow,June Davies,Peggy Shelbourne,Jessica L. Buxton,Clare Jones,Vesa Juvonen,Keith J. Johnson,Peter S. Harper,D.J. Shaw,David E. Housman +23 more
TL;DR: Using positional cloning strategies, this work has identified a CTG triplet repeat that undergoes expansion in myotonic dystrophy patients and PCR analysis of the interval containing this repeat indicates that unaffected individuals have been 5 and 27 copies.
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Foci of trinucleotide repeat transcripts in nuclei of myotonic dystrophy cells and tissues.
TL;DR: This analysis of intracellular localization of transcripts from the myotonin protein kinase (Mt-PK) gene in fibroblasts and muscle biopsies from myotonic dystrophy patients and normal controls indicated that this concentration of nuclear transcripts was diagnostic of the affected state, and may represent aberrant processing of the RNA.
Journal ArticleDOI
Expansion of a CUG trinucleotide repeat in the 3′ untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts
Brigid M. Davis,Mila E. McCurrach,Mila E. McCurrach,Krishan L. Taneja,Robert H. Singer,David E. Housman +5 more
TL;DR: In this article, a CTG trinucleotide repeat in the 3′ untranslated region (UTR) of DMPK, the gene encoding myotonic dystrophy protein kinase, induces the dominantly inherited neuromuscular disorder Myotonic Dystrophy (DM).
Journal ArticleDOI
Genomic organization and transcriptional units at the myotonic dystrophy locus.
D.J. Shaw,Mila E. McCurrach,S A Rundle,H G Harley,Stephen R. Crow,Robert L. Sohn,Jean-Paul Thirion,Marion G. Hamshere,Alan Buckler,Peter S. Harper,David E. Housman,J. David Brook,J. David Brook +12 more
TL;DR: The genomic structure and apparently complete coding sequence of the myotonic dystrophy protein kinase gene have been determined and strong expression of the latter gene in brain suggests that it may have a role in the development of mental symptoms in severe cases of the disease.