Literature DB >> 25691745

Rectifying RNA splicing errors in hereditary neurodegenerative disease.

Maurice S Swanson1.   

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Year:  2015        PMID： 25691745      PMCID： PMC4352773          DOI： 10.1073/pnas.1500976112

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


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  19 in total

Review 1.  Emerging roles of tRNA in adaptive translation, signalling dynamics and disease.

Authors:  Sebastian Kirchner; Zoya Ignatova
Journal:  Nat Rev Genet       Date:  2014-12-23       Impact factor: 53.242

Review 2.  SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease.

Authors:  Darrick K Li; Sarah Tisdale; Francesco Lotti; Livio Pellizzoni
Journal:  Semin Cell Dev Biol       Date:  2014-04-24       Impact factor: 7.727

3.  Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.

Authors:  S A Slaugenhaupt; A Blumenfeld; S P Gill; M Leyne; J Mull; M P Cuajungco; C B Liebert; B Chadwick; M Idelson; L Reznik; C Robbins; I Makalowska; M Brownstein; D Krappmann; C Scheidereit; C Maayan; F B Axelrod; J F Gusella
Journal:  Am J Hum Genet       Date:  2001-01-22       Impact factor: 11.025

4.  Familial dysautonomia is caused by mutations of the IKAP gene.

Authors:  S L Anderson; R Coli; I W Daly; E A Kichula; M J Rork; S A Volpi; J Ekstein; B Y Rubin
Journal:  Am J Hum Genet       Date:  2001-01-22       Impact factor: 11.025

5.  Rectifier of aberrant mRNA splicing recovers tRNA modification in familial dysautonomia.

Authors:  Mayumi Yoshida; Naoyuki Kataoka; Kenjyo Miyauchi; Kenji Ohe; Kei Iida; Suguru Yoshida; Takayuki Nojima; Yukiko Okuno; Hiroshi Onogi; Tomomi Usui; Akihide Takeuchi; Takamitsu Hosoya; Tsutomu Suzuki; Masatoshi Hagiwara
Journal:  Proc Natl Acad Sci U S A       Date:  2015-02-09       Impact factor: 11.205

6.  Rescue of a human mRNA splicing defect by the plant cytokinin kinetin.

Authors:  Susan A Slaugenhaupt; James Mull; Maire Leyne; Math P Cuajungco; Sandra P Gill; Matthew M Hims; Fabiola Quintero; Felicia B Axelrod; James F Gusella
Journal:  Hum Mol Genet       Date:  2004-01-06       Impact factor: 6.150

7.  A neuron autonomous role for the familial dysautonomia gene ELP1 in sympathetic and sensory target tissue innervation.

Authors:  Marisa Z Jackson; Katherine A Gruner; Charles Qin; Warren G Tourtellotte
Journal:  Development       Date:  2014-06       Impact factor: 6.868

Review 8.  Antisense oligonucleotide-based therapies for diseases caused by pre-mRNA processing defects.

Authors:  Frank Rigo; Punit P Seth; C Frank Bennett
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

9.  EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia.

Authors:  Sylvia L Anderson; Jinsong Qiu; Berish Y Rubin
Journal:  Biochem Biophys Res Commun       Date:  2003-10-17       Impact factor: 3.575

10.  RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Authors:  Hui Y Xiong; Babak Alipanahi; Leo J Lee; Hannes Bretschneider; Daniele Merico; Ryan K C Yuen; Yimin Hua; Serge Gueroussov; Hamed S Najafabadi; Timothy R Hughes; Quaid Morris; Yoseph Barash; Adrian R Krainer; Nebojsa Jojic; Stephen W Scherer; Benjamin J Blencowe; Brendan J Frey
Journal:  Science       Date:  2014-12-18       Impact factor: 47.728
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  1 in total

Review 1.  RNA-binding proteins in human genetic disease.

Authors:  Fátima Gebauer; Thomas Schwarzl; Juan Valcárcel; Matthias W Hentze
Journal:  Nat Rev Genet       Date:  2020-11-24       Impact factor: 53.242
  1 in total

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