L
Laura Riba
Researcher at Massachusetts Institute of Technology
Publications - 4
Citations - 7184
Laura Riba is an academic researcher from Massachusetts Institute of Technology. The author has contributed to research in topics: Chromosome 4 & Trinucleotide repeat expansion. The author has an hindex of 4, co-authored 4 publications receiving 7182 citations.
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Journal Article
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.
Manish A. Shah,Nicole A. Datson,Lakshmi Srinidhi,Vincent P. Stanton,Marcy E. MacDonald,Marc W. Allard,S. Youngman,Anna-Maria Frischauf,Richard Mott,KM Draths,Günther Zehetner,C. O’Donovan,Thomas J. Fielder,Bruce G. Jenkins,Manju Swaroop,Sherryl A.M. Taylor,Lynn Doucette-Stamm,Heather MacFarlane,Scott A. Strobel,H. E. McFarlane,Alan Buckler,Nicolet Groot,Holger Hummerich,Deanna M. Church,M. A. Anderson,Marianne James,Glenn Barnes,M. Christine,Francis S. Collins,Mabel P. Duyao,Peter B. Dervan,Gillian P. Bates,T Holloway,Peter S. Harper,TW Mcdonald,M North,K Blanchard,John J. Wasmuth,D. Shaw,Hans Lehrach,Danilo A. Tagle,Annemarie Poustka,David E. Housman,T. Huntington,Zdenek Sedlacek,Laura Riba,Susan F. Kirby,Carol Lin,Richard H. Myers,Leslie M. Thompson,Russell G. Snell,Michael Conlon O'Donovan,K Gillespie,Rita Shiang,Nancy S. Wexler,Christine Ambrose,J. F. Gusella,Sarah Baxendale,N. Groat,John Valdes +59 more
TL;DR: The Huntington's disease mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype.
Journal ArticleDOI
Site-specific cleavage of human chromosome 4 mediated by triple-helix formation
TL;DR: This method may facilitate the orchestrated dissection of human chromosomes from normal and affected individuals into megabase sized fragments and facilitate the isolation of candidate gene loci.
Journal ArticleDOI
Generation and characterization of irradiation hybrids of human chromosome 4
Lynn Doucette-Stamm,Laura Riba,Barbara Handelin,Michael J. Difilippantonio,David C. Ward,John J. Wasmuth,James F. Gusella,David E. Housman +7 more
TL;DR: A modification of the method first developed by Goss and Harris for generation of irradiation hybrids used to obtain new polymorphic markers for Huntington's disease and identified 41 single-copy fragments, of which 27 have been mapped to specific regions of chromosome 4.
Journal ArticleDOI
The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library
Russell G. Snell,Lynn Doucette-Stamm,K.M. Gillespie,Sherryl A.M. Taylor,Laura Riba,Gillian P. Bates,Michael R. Altherr,Marcy E. MacDonald,James F. Gusella,John J. Wasmuth,Hans Lehrach,David E. Housman,Peter S. Harper,D.J. Shaw +13 more
TL;DR: This screen for cDNA libraries with probes generated from whole Yeast Artificial Chromosomes containing parts of the Huntington Disease gene candidate region identified a cDNA from the HD candidate region indicating that very large YACs may be used as probes.