Literature DB >> 9973273

Myotonic dystrophy: the role of RNA CUG triplet repeats.

L T Timchenko1.   

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Year:  1999        PMID： 9973273      PMCID： PMC1377745          DOI： 10.1086/302268

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  31 in total

1.  A liver-enriched transcriptional activator protein, LAP, and a transcriptional inhibitory protein, LIP, are translated from the same mRNA.

Authors:  P Descombes; U Schibler
Journal:  Cell       Date:  1991-11-01       Impact factor: 41.582

2.  Positive autoregulation of sex-lethal by alternative splicing maintains the female determined state in Drosophila.

Authors:  L R Bell; J I Horabin; P Schedl; T W Cline
Journal:  Cell       Date:  1991-04-19       Impact factor: 41.582

3.  Effect of myotonic dystrophy trinucleotide repeat expansion on DMPK transcription and processing.

Authors:  R Krahe; T Ashizawa; C Abbruzzese; E Roeder; P Carango; M Giacanelli; V L Funanage; M J Siciliano
Journal:  Genomics       Date:  1995-07-01       Impact factor: 5.736

4.  Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene.

Authors:  M Mahadevan; C Tsilfidis; L Sabourin; G Shutler; C Amemiya; G Jansen; C Neville; M Narang; J Barceló; K O'Hoy
Journal:  Science       Date:  1992-03-06       Impact factor: 47.728

5.  An unstable triplet repeat in a gene related to myotonic muscular dystrophy.

Authors:  Y H Fu; A Pizzuti; R G Fenwick; J King; S Rajnarayan; P W Dunne; J Dubel; G A Nasser; T Ashizawa; P de Jong
Journal:  Science       Date:  1992-03-06       Impact factor: 47.728

6.  Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

Authors:  H G Harley; J D Brook; S A Rundle; S Crow; W Reardon; A J Buckler; P S Harper; D E Housman; D J Shaw
Journal:  Nature       Date:  1992-02-06       Impact factor: 49.962

7.  Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy.

Authors:  J Buxton; P Shelbourne; J Davies; C Jones; T Van Tongeren; C Aslanidis; P de Jong; G Jansen; M Anvret; B Riley
Journal:  Nature       Date:  1992-02-06       Impact factor: 49.962

8.  Cloning of the essential myotonic dystrophy region and mapping of the putative defect.

Authors:  C Aslanidis; G Jansen; C Amemiya; G Shutler; M Mahadevan; C Tsilfidis; C Chen; J Alleman; N G Wormskamp; M Vooijs
Journal:  Nature       Date:  1992-02-06       Impact factor: 49.962

9.  Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Authors:  J D Brook; M E McCurrach; H G Harley; A J Buckler; D Church; H Aburatani; K Hunter; V P Stanton; J P Thirion; T Hudson
Journal:  Cell       Date:  1992-02-21       Impact factor: 41.582

10.  Myotonic dystrophy: evidence for a possible dominant-negative RNA mutation.

Authors:  J Wang; E Pegoraro; E Menegazzo; M Gennarelli; R C Hoop; C Angelini; E P Hoffman
Journal:  Hum Mol Genet       Date:  1995-04       Impact factor: 6.150
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  20 in total

1.  Daytime sleepiness and REM sleep characteristics in myotonic dystrophy: a case-control study.

Authors:  Huan Yu; Luc Laberge; Isabelle Jaussent; Sophie Bayard; Sabine Scholtz; Morales Raoul; Michel Pages; Yves Dauvilliers
Journal:  Sleep       Date:  2011-02-01       Impact factor: 5.849

2.  Expansion of CUG RNA repeats causes stress and inhibition of translation in myotonic dystrophy 1 (DM1) cells.

Authors:  Claudia Huichalaf; Keiko Sakai; Bingwen Jin; Karlie Jones; Guo-Li Wang; Benedikt Schoser; Christiane Schneider-Gold; Partha Sarkar; Olivia M Pereira-Smith; Nikolai Timchenko; Lubov Timchenko
Journal:  FASEB J       Date:  2010-05-17       Impact factor: 5.191

3.  RNA Foci, CUGBP1, and ZNF9 are the primary targets of the mutant CUG and CCUG repeats expanded in myotonic dystrophies type 1 and type 2.

Authors:  Karlie Jones; Bingwen Jin; Polina Iakova; Claudia Huichalaf; Partha Sarkar; Christiane Schneider-Gold; Benedikt Schoser; Giovanni Meola; Ann-Bin Shyu; Nikolai Timchenko; Lubov Timchenko
Journal:  Am J Pathol       Date:  2011-09-01       Impact factor: 4.307

Review 4.  Biological implications of the DNA structures associated with disease-causing triplet repeats.

Authors:  R R Sinden
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

Review 5.  Repeat expansion disease: progress and puzzles in disease pathogenesis.

Authors:  Albert R La Spada; J Paul Taylor
Journal:  Nat Rev Genet       Date:  2010-04       Impact factor: 53.242

Review 6.  Daytime sleepiness and myotonic dystrophy.

Authors:  Luc Laberge; Cynthia Gagnon; Yves Dauvilliers
Journal:  Curr Neurol Neurosci Rep       Date:  2013-04       Impact factor: 5.081

7.  Correction of GSK3β at young age prevents muscle pathology in mice with myotonic dystrophy type 1.

Authors:  Christina Wei; Lauren Stock; Leila Valanejad; Zachary A Zalewski; Rebekah Karns; Jack Puymirat; David Nelson; David Witte; Jim Woodgett; Nikolai A Timchenko; Lubov Timchenko
Journal:  FASEB J       Date:  2018-01-05       Impact factor: 5.191

8.  Reduction of the rate of protein translation in patients with myotonic dystrophy 2.

Authors:  Claudia Huichalaf; Benedikt Schoser; Christiane Schneider-Gold; Bingwen Jin; Partha Sarkar; Lubov Timchenko
Journal:  J Neurosci       Date:  2009-07-15       Impact factor: 6.167

9.  Myotonic dystrophies 1 and 2: complex diseases with complex mechanisms.

Authors:  Benedikt Schoser; Lubov Timchenko
Journal:  Curr Genomics       Date:  2010-04       Impact factor: 2.236

10.  Structural basis for the sequence-specific RNA-recognition mechanism of human CUG-BP1 RRM3.

Authors:  Kengo Tsuda; Kanako Kuwasako; Mari Takahashi; Tatsuhiko Someya; Makoto Inoue; Takaho Terada; Naohiro Kobayashi; Mikako Shirouzu; Takanori Kigawa; Akiko Tanaka; Sumio Sugano; Peter Güntert; Yutaka Muto; Shigeyuki Yokoyama
Journal:  Nucleic Acids Res       Date:  2009-06-24       Impact factor: 16.971
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