Literature DB >> 25354110

Romancing the spliceosome to fight spinal muscular atrophy.

Kathryn J Swoboda.   

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Year:  2014        PMID: 25354110      PMCID: PMC4344377          DOI: 10.1056/NEJMcibr1409795

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  5 in total

1.  An RNA-sequencing transcriptome and splicing database of glia, neurons, and vascular cells of the cerebral cortex.

Authors:  Ye Zhang; Kenian Chen; Steven A Sloan; Mariko L Bennett; Anja R Scholze; Sean O'Keeffe; Hemali P Phatnani; Paolo Guarnieri; Christine Caneda; Nadine Ruderisch; Shuyun Deng; Shane A Liddelow; Chaolin Zhang; Richard Daneman; Tom Maniatis; Ben A Barres; Jian Qian Wu
Journal:  J Neurosci       Date:  2014-09-03       Impact factor: 6.167

2.  Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy.

Authors:  Zhenxi Zhang; Anna Maria Pinto; Lili Wan; Wei Wang; Michael G Berg; Isabela Oliva; Larry N Singh; Christopher Dengler; Zhi Wei; Gideon Dreyfuss
Journal:  Proc Natl Acad Sci U S A       Date:  2013-11-04       Impact factor: 11.205

3.  Cell-specific alternative splicing of Drosophila Dscam2 is crucial for proper neuronal wiring.

Authors:  Grace Ji-Eun Lah; Joshua Shing Shun Li; S Sean Millard
Journal:  Neuron       Date:  2014-08-28       Impact factor: 17.173

4.  SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy.

Authors:  Markus Riessland; Bastian Ackermann; Anja Förster; Miriam Jakubik; Jan Hauke; Lutz Garbes; Ina Fritzsche; Ylva Mende; Ingmar Blumcke; Eric Hahnen; Brunhilde Wirth
Journal:  Hum Mol Genet       Date:  2010-01-22       Impact factor: 6.150

5.  Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.

Authors:  Nikolai A Naryshkin; Marla Weetall; Amal Dakka; Jana Narasimhan; Xin Zhao; Zhihua Feng; Karen K Y Ling; Gary M Karp; Hongyan Qi; Matthew G Woll; Guangming Chen; Nanjing Zhang; Vijayalakshmi Gabbeta; Priya Vazirani; Anuradha Bhattacharyya; Bansri Furia; Nicole Risher; Josephine Sheedy; Ronald Kong; Jiyuan Ma; Anthony Turpoff; Chang-Sun Lee; Xiaoyan Zhang; Young-Choon Moon; Panayiota Trifillis; Ellen M Welch; Joseph M Colacino; John Babiak; Neil G Almstead; Stuart W Peltz; Loren A Eng; Karen S Chen; Jesse L Mull; Maureen S Lynes; Lee L Rubin; Paulo Fontoura; Luca Santarelli; Daniel Haehnke; Kathleen D McCarthy; Roland Schmucki; Martin Ebeling; Manaswini Sivaramakrishnan; Chien-Ping Ko; Sergey V Paushkin; Hasane Ratni; Irene Gerlach; Anirvan Ghosh; Friedrich Metzger
Journal:  Science       Date:  2014-08-08       Impact factor: 47.728

  5 in total
  2 in total

1.  Impaired kidney structure and function in spinal muscular atrophy.

Authors:  Flávia C Nery; Jennifer J Siranosian; Ivy Rosales; Marc-Olivier Deguise; Amita Sharma; Abdurrahman W Muhtaseb; Pann Nwe; Alec J Johnstone; Ren Zhang; Maryam Fatouraei; Natassja Huemer; Christiano R R Alves; Rashmi Kothary; Kathryn J Swoboda
Journal:  Neurol Genet       Date:  2019-08-12

2.  Increased systemic HSP70B levels in spinal muscular atrophy infants.

Authors:  Eric J Eichelberger; Christiano R R Alves; Ren Zhang; Marco Petrillo; Patrick Cullen; Wildon Farwell; Jessica A Hurt; John F Staropoli; Kathryn J Swoboda
Journal:  Ann Clin Transl Neurol       Date:  2021-05-15       Impact factor: 4.511

  2 in total

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