LAURA PW RANUM

Summary

Affiliation: University of Minnesota
Country: USA

Publications

  1. ncbi request reprint Genetics and molecular pathogenesis of the myotonic dystrophies
    John W Day
    Department of Neurology, Institute of Human Genetics, MMC 206, University of Minnesota School of Medicine, 420 Delaware Street SE, Minneapolis, MN 55455, USA
    Curr Neurol Neurosci Rep 5:55-9. 2005
  2. ncbi request reprint Dominantly inherited, non-coding microsatellite expansion disorders
    Laura P W Ranum
    Institute of Human Genetics, University of Minnesota, MMC 206, 420 Delaware Street SE, Minneapolis, Minnesota 55455, USA
    Curr Opin Genet Dev 12:266-71. 2002
  3. ncbi request reprint Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2
    Laura P W Ranum
    Institute of Human Genetics, University of Minnesota, MMC 206, 420 Delaware Street SE, Minneapolis, MN 55455, USA
    Curr Neurol Neurosci Rep 2:465-70. 2002
  4. ncbi request reprint RNA-mediated neuromuscular disorders
    Laura P W Ranum
    Institute of Human Genetics and Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Annu Rev Neurosci 29:259-77. 2006
  5. pmc Myotonic dystrophy: RNA pathogenesis comes into focus
    Laura P W Ranum
    Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55455, USA
    Am J Hum Genet 74:793-804. 2004
  6. ncbi request reprint Pathogenic RNA repeats: an expanding role in genetic disease
    Laura P W Ranum
    Institute of Human Genetics, MMC 206, 420 Delaware St S E, University of Minnesota, Minneapolis, MN 55455, USA
    Trends Genet 20:506-12. 2004
  7. pmc RNA gain-of-function in spinocerebellar ataxia type 8
    Randy S Daughters
    Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN, USA
    PLoS Genet 5:e1000600. 2009
  8. ncbi request reprint RNA pathogenesis of the myotonic dystrophies
    John W Day
    Institute of Human Genetics, University of Minnesota, School of Medicine, Minneapolis, MN 55455, USA
    Neuromuscul Disord 15:5-16. 2005
  9. ncbi request reprint DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression
    Jamie M Margolis
    Department of Genetics, Cell Biology and Development, University of Minnesota, 420 Delaware Street SE, Minneapolis, MN 55455, USA
    Hum Mol Genet 15:1808-15. 2006
  10. ncbi request reprint Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8
    Melinda L Moseley
    Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Nat Genet 38:758-69. 2006

Collaborators

  • J W Day
  • Christine Z├╝hlke
  • Alexandra Durr
  • J B Vincent
  • T A Cooper
  • Massimo Pandolfo
  • Thomas D Bird
  • Benedikt G H Schoser
  • A Brice
  • Robert Wells
  • Giovanni Stevanin
  • Yoshio Ikeda
  • Melinda L Moseley
  • Randy S Daughters
  • Joline C Dalton
  • DAMARIS N LORENZO
  • Katherine A Dick Krueger
  • Karen R Armbrust
  • Timothy J Ebner
  • Wangcai Gao
  • Marcy R Weatherspoon
  • H Brent Clark
  • Jamie M Margolis
  • Ruhee Dere
  • Christina L Liquori
  • Min Gang Li
  • Sarah E Mische
  • Thomas S Hays
  • Jun Goto
  • Daniel L Tuttle
  • Maurice S Swanson
  • Jun Mitsui
  • Yuji Takahashi
  • Shoji Tsuji
  • Hiroyuki Ishiura
  • Yoko Fukuda
  • Michael B Miller
  • Dan Gincel
  • Katrin Burk
  • Gang Chen
  • Katherine A Dick
  • Lawrence J Schut
  • Anne K Mosemiller
  • Tao Zu
  • Jeffrey D Rothstein
  • Nicholas T Potter
  • Aubrey Milunsky
  • William K Seltzer
  • Kathy L Gardner
  • Tetsuo Ashizawa
  • Mikio Shoji
  • Marek Napierala
  • Marcy Weatherspoon
  • Kenneth Ricker

Detail Information

Publications18

  1. ncbi request reprint Genetics and molecular pathogenesis of the myotonic dystrophies
    John W Day
    Department of Neurology, Institute of Human Genetics, MMC 206, University of Minnesota School of Medicine, 420 Delaware Street SE, Minneapolis, MN 55455, USA
    Curr Neurol Neurosci Rep 5:55-9. 2005
    ..Clinical and molecular characterization of myotonic dystrophy types 1 and 2 have now demonstrated a novel disease mechanism involving pathogenic effects of repeat expansions that are expressed in RNA but are not translated into protein...
  2. ncbi request reprint Dominantly inherited, non-coding microsatellite expansion disorders
    Laura P W Ranum
    Institute of Human Genetics, University of Minnesota, MMC 206, 420 Delaware Street SE, Minneapolis, Minnesota 55455, USA
    Curr Opin Genet Dev 12:266-71. 2002
    ..Pathogenic repeat expansions in RNA may also be involved in spinocerebellar ataxia types 8, 10 and 12, and Huntington's disease-like type 2...
  3. ncbi request reprint Myotonic dystrophy: clinical and molecular parallels between myotonic dystrophy type 1 and type 2
    Laura P W Ranum
    Institute of Human Genetics, University of Minnesota, MMC 206, 420 Delaware Street SE, Minneapolis, MN 55455, USA
    Curr Neurol Neurosci Rep 2:465-70. 2002
    ....
  4. ncbi request reprint RNA-mediated neuromuscular disorders
    Laura P W Ranum
    Institute of Human Genetics and Department of Genetics, Cell Biology and Development, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Annu Rev Neurosci 29:259-77. 2006
    ....
  5. pmc Myotonic dystrophy: RNA pathogenesis comes into focus
    Laura P W Ranum
    Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55455, USA
    Am J Hum Genet 74:793-804. 2004
    ....
  6. ncbi request reprint Pathogenic RNA repeats: an expanding role in genetic disease
    Laura P W Ranum
    Institute of Human Genetics, MMC 206, 420 Delaware St S E, University of Minnesota, Minneapolis, MN 55455, USA
    Trends Genet 20:506-12. 2004
    ..This review will detail recent developments on the molecular mechanisms of RNA pathogenesis in DM, and the growing number of expansion disorders that might involve similar pathogenic RNA mechanisms...
  7. pmc RNA gain-of-function in spinocerebellar ataxia type 8
    Randy S Daughters
    Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN, USA
    PLoS Genet 5:e1000600. 2009
    ....
  8. ncbi request reprint RNA pathogenesis of the myotonic dystrophies
    John W Day
    Institute of Human Genetics, University of Minnesota, School of Medicine, Minneapolis, MN 55455, USA
    Neuromuscul Disord 15:5-16. 2005
    ..Although other mechanisms may underlie the differences between DM1 and DM2, the pathogenic effects of the RNA mechanism are now clear, which will facilitate development of appropriate treatments...
  9. ncbi request reprint DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression
    Jamie M Margolis
    Department of Genetics, Cell Biology and Development, University of Minnesota, 420 Delaware Street SE, Minneapolis, MN 55455, USA
    Hum Mol Genet 15:1808-15. 2006
    ..These data suggest that the downstream molecular effects of the DM2 mutation are triggered by the accumulation of CCUG repeat tract alone...
  10. ncbi request reprint Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8
    Melinda L Moseley
    Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, Minnesota 55455, USA
    Nat Genet 38:758-69. 2006
    ....
  11. pmc Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia
    Yoshio Ikeda
    Institute of Human Genetics and Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, 55455, USA
    Am J Hum Genet 75:3-16. 2004
    ....
  12. ncbi request reprint Repeat analysis pooled isolation and detection (RAPID) cloning of microsatellite expansions
    Laura P W Ranum
    Department of Genetics, Cell Biology, and Development, Institute of Human Genetics, University of Minnesota, Minneapolis, MN, USA
    Methods Mol Biol 217:61-71. 2003
  13. pmc Myotonic dystrophy type 2: human founder haplotype and evolutionary conservation of the repeat tract
    Christina L Liquori
    Institute of Human Genetics, and Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN 55455, USA
    Am J Hum Genet 73:849-62. 2003
    ..The complex repeat motif and flanking sequences within intron 1 are conserved among human, chimpanzee, gorilla, mouse, and rat, suggesting a conserved biological function...
  14. doi request reprint Bidirectional expression of the SCA8 expansion mutation: one mutation, two genes
    Yoshio Ikeda
    Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN 55455, USA
    Cerebellum 7:150-8. 2008
    ....
  15. pmc SNP haplotype mapping in a small ALS family
    Katherine A Dick Krueger
    Department of Genetics, University of Minnesota, Minneapolis, Minnesota, United States of America
    PLoS ONE 4:e5687. 2009
    ..Our study illustrates how genetic information can be maximized using readily available tools as a first step in mapping single-gene disorders in small families...
  16. pmc Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila
    DAMARIS N LORENZO
    Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN 55455, USA
    J Cell Biol 189:143-58. 2010
    ....
  17. ncbi request reprint Spectrin mutations cause spinocerebellar ataxia type 5
    Yoshio Ikeda
    Department of Genetics, Cell Biology, and Development, University of Minnesota, 321 Church St SE, Minneapolis, Minnesota 55455 USA
    Nat Genet 38:184-90. 2006
    ..Spectrin mutations are a previously unknown cause of ataxia and neurodegenerative disease that affect membrane proteins involved in glutamate signaling...
  18. ncbi request reprint Hairpin structure-forming propensity of the (CCTG.CAGG) tetranucleotide repeats contributes to the genetic instability associated with myotonic dystrophy type 2
    Ruhee Dere
    Institute of Biosciences and Technology, Center for Genome Research, Texas A and M University System Health Science Center, Texas Medical Center, Houston, Texas 77030 3303, USA
    J Biol Chem 279:41715-26. 2004
    ..However, similar to the triplet repeat sequences, the ability of one of the two strands to form a more stable folded structure, in our case the CAGG strand, explains this unorthodox "reversed" behavior...

Research Grants29

  1. MOLECULAR GENETIC CHARACTERIZATION OF SCA8
    LAURA RANUM; Fiscal Year: 2007
    ....
  2. DM2: Murine and cell Culture Models of CCUG RNA toxicity
    LAURA RANUM; Fiscal Year: 2007
    ..3) To develop a cell culture model to evaluate the molecular effects of CCUG length on the formation of RNA foci, cellular differentiation and downstream molecular changes in alternative splicing. ..
  3. Role of Beta-III Spectrin in Spinocerebellar Ataxia Type 5
    LAURA RANUM; Fiscal Year: 2007
    ..The goals of this application are to better understand the role of spectrin in ataxia, the normal function of P-lll spectrin, and the molecular consequences of the SCA5 mutations, including effects on EAAT4 and glutamate transport. ..
  4. Conference on Unstable Microsatellites & Human Disease
    LAURA RANUM; Fiscal Year: 2007
    ..null ..
  5. MOLECULAR GENETIC CHARACTERIZATION OF SCA8
    LAURA RANUM; Fiscal Year: 2009
    ..abstract_text> ..
  6. Role of Beta-III Spectrin in Spinocerebellar Ataxia Type 5
    LAURA PW RANUM; Fiscal Year: 2010
    ..The goals of this application are to better understand the role of spectrin in ataxia, the normal function of P-lll spectrin, and the molecular consequences of the SCA5 mutations, including effects on EAAT4 and glutamate transport. ..
  7. GENETIC MAPPING OF A NOVEL MYOTONIC DYSTROPHY LOCUS
    LAURA RANUM; Fiscal Year: 1999
    ..If the number of affected individuals is sufficient to allow us to narrow the candidate region to 1-2 cM, then physical mapping and cloning strategies will be used to isolate the defective gene. ..
  8. MOLECULAR GENETIC CHARACTERIZATION OF SCA8
    LAURA RANUM; Fiscal Year: 2004
    ..Understanding how the untranslated SCA8 CTG repeats expansion causes ataxia should help to more fully understand the pathophysiology of both ataxia and myotonic dystrophy. ..
  9. CLONING/CHARACTERIZATING A MYOTONIC DYSTROPHY LOCUS
    LAURA RANUM; Fiscal Year: 2004
    ..abstract_text> ..
  10. MOLECULAR GENETIC CHARACTERIZATION OF SCA8
    LAURA PW RANUM; Fiscal Year: 2010
    ..abstract_text> ..