Literature DB >> 28364159

Modulation of aberrant splicing in human RNA diseases by chemical compounds.

Naoyuki Kataoka1.   

Abstract

Pre-mRNA splicing is an essential step for gene expression in higher eukaryotes. Alternative splicing contributes to diversity of the expressed proteins from the limited number of genes. Disruption of splicing regulation often results in hereditary and sporadic diseases called as 'RNA diseases'. Modulation of splicing by small chemical compounds and nucleic acids has been tried to target aberrant splicing in those diseases. Several RNA diseases and splicing-target therapeutic approaches will be briefly introduced in this review. Accumulating knowledge about molecular mechanism of aberrant splicing and their correction by chemical compounds is important not only for RNA biologists, but also for clinicians who desire therapies for those diseases.

Entities:  

Keywords:  Aberrant Splice; Duchenne Muscular Dystrophy; Exonic Splice Enhancer; Familial Dysautonomia; Spinal Muscular Atrophy

Mesh：

Year:  2017        PMID： 28364159     DOI： 10.1007/s00439-017-1789-4

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  69 in total

1.  The anti-tumor drug E7107 reveals an essential role for SF3b in remodeling U2 snRNP to expose the branch point-binding region.

Authors:  Eric G Folco; Kaitlyn E Coil; Robin Reed
Journal:  Genes Dev       Date:  2011-03-01       Impact factor: 11.361

2.  Sudemycins, novel small molecule analogues of FR901464, induce alternative gene splicing.

Authors:  Liying Fan; Chandraiah Lagisetti; Carol C Edwards; Thomas R Webb; Philip M Potter
Journal:  ACS Chem Biol       Date:  2011-03-07       Impact factor: 5.100

3.  Reduced fidelity of branch point recognition and alternative splicing induced by the anti-tumor drug spliceostatin A.

Authors:  Anna Corrionero; Belén Miñana; Juan Valcárcel
Journal:  Genes Dev       Date:  2011-03-01       Impact factor: 11.361

4.  Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia.

Authors:  Felicia B Axelrod; Leonard Liebes; Gabrielle Gold-Von Simson; Sandra Mendoza; James Mull; Maire Leyne; Lucy Norcliffe-Kaufmann; Horacio Kaufmann; Susan A Slaugenhaupt
Journal:  Pediatr Res       Date:  2011-11       Impact factor: 3.756

5.  Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.

Authors:  Math P Cuajungco; Maire Leyne; James Mull; Sandra P Gill; Weining Lu; David Zagzag; Felicia B Axelrod; Channa Maayan; James F Gusella; Susan A Slaugenhaupt
Journal:  Am J Hum Genet       Date:  2003-02-06       Impact factor: 11.025

6.  Splicing factor SF3b as a target of the antitumor natural product pladienolide.

Authors:  Yoshihiko Kotake; Koji Sagane; Takashi Owa; Yuko Mimori-Kiyosue; Hajime Shimizu; Mai Uesugi; Yasushi Ishihama; Masao Iwata; Yoshiharu Mizui
Journal:  Nat Chem Biol       Date:  2007-07-22       Impact factor: 15.040

7.  Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3' Splice Site Selection through Use of a Different Branch Point.

Authors:  Rachel B Darman; Michael Seiler; Anant A Agrawal; Kian H Lim; Shouyong Peng; Daniel Aird; Suzanna L Bailey; Erica B Bhavsar; Betty Chan; Simona Colla; Laura Corson; Jacob Feala; Peter Fekkes; Kana Ichikawa; Gregg F Keaney; Linda Lee; Pavan Kumar; Kaiko Kunii; Crystal MacKenzie; Mark Matijevic; Yoshiharu Mizui; Khin Myint; Eun Sun Park; Xiaoling Puyang; Anand Selvaraj; Michael P Thomas; Jennifer Tsai; John Y Wang; Markus Warmuth; Hui Yang; Ping Zhu; Guillermo Garcia-Manero; Richard R Furman; Lihua Yu; Peter G Smith; Silvia Buonamici
Journal:  Cell Rep       Date:  2015-10-22       Impact factor: 9.423

8.  Phosphatidylserine increases IKBKAP levels in familial dysautonomia cells.

Authors:  Hadas Keren; Maya Donyo; David Zeevi; Channa Maayan; Tal Pupko; Gil Ast
Journal:  PLoS One       Date:  2010-12-29       Impact factor: 3.240

9.  Mutant U2AF1-expressing cells are sensitive to pharmacological modulation of the spliceosome.

Authors:  Cara Lunn Shirai; Brian S White; Manorama Tripathi; Roberto Tapia; James N Ley; Matthew Ndonwi; Sanghyun Kim; Jin Shao; Alexa Carver; Borja Saez; Robert S Fulton; Catrina Fronick; Michelle O'Laughlin; Chandraiah Lagisetti; Thomas R Webb; Timothy A Graubert; Matthew J Walter
Journal:  Nat Commun       Date:  2017-01-09       Impact factor: 14.919

10.  FDA Approves Eteplirsen for Duchenne Muscular Dystrophy: The Next Chapter in the Eteplirsen Saga.

Authors:  Annemieke Aartsma-Rus; Arthur M Krieg
Journal:  Nucleic Acid Ther       Date:  2016-12-08       Impact factor: 5.486
View more
  6 in total

Review 1.  Therapeutic approaches to treat human spliceosomal diseases.

Authors:  Anthony B DeNicola; Yi Tang
Journal:  Curr Opin Biotechnol       Date:  2019-02-15       Impact factor: 9.740

2.  A synonymous VHL variant in exon 2 confers susceptibility to familial pheochromocytoma and von Hippel-Lindau disease.

Authors:  Shahida K Flores; Ziming Cheng; Angela M Jasper; Keiko Natori; Takahiro Okamoto; Akiyo Tanabe; Koro Gotoh; Hirotaka Shibata; Akihiro Sakurai; Takuya Nakai; Xiaojing Wang; Magnus Zethoven; Shiva Balachander; Yuichi Aita; William Young; Siyuan Zheng; Kazuhiro Takekoshi; Eijiro Nakamura; Richard W Tothill; Ricardo C T Aguiar; Patricia L M Dahia
Journal:  J Clin Endocrinol Metab       Date:  2019-04-04       Impact factor: 5.958

Review 3.  Alternative Splicing of Transcription Factors Genes in Muscle Physiology and Pathology.

Authors:  Carol Imbriano; Susanna Molinari
Journal:  Genes (Basel)       Date:  2018-02-19       Impact factor: 4.096

4.  Titration of SF3B1 Activity Reveals Distinct Effects on the Transcriptome and Cell Physiology.

Authors:  Karen S Kim Guisbert; Isiah Mossiah; Eric Guisbert
Journal:  Int J Mol Sci       Date:  2020-12-17       Impact factor: 5.923

5.  Increasing the Genetic Diagnosis Yield in Inherited Retinal Dystrophies: Assigning Pathogenicity to Novel Non-canonical Splice Site Variants.

Authors:  Vasileios Toulis; Vianney Cortés-González; Marta de Castro-Miró; Juliana Ferraz Sallum; Jaume Català-Mora; Cristina Villanueva-Mendoza; Marcela Ciccioli; Roser Gonzàlez-Duarte; Rebeca Valero; Gemma Marfany
Journal:  Genes (Basel)       Date:  2020-03-31       Impact factor: 4.096

Review 6.  Alternative Splicing of Human Telomerase Reverse Transcriptase (hTERT) and Its Implications in Physiological and Pathological Processes.

Authors:  Anna A Plyasova; Dmitry D Zhdanov
Journal:  Biomedicines       Date:  2021-05-09
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.