Literature DB >> 28852871

SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities.

Catherine E Dominguez1,2, David Cunningham2, Dawn S Chandler3,4,5.   

Abstract

Low levels of the survival of motor neuron (SMN) protein cause the neurodegenerative disease spinal muscular atrophy (SMA). SMA is a pediatric disease characterized by spinal motor neuron degeneration. SMA exhibits several levels of severity ranging from early antenatal fatality to only mild muscular weakness, and disease prognosis is related directly to the amount of functional SMN protein that a patient is able to express. Current therapies are being developed to increase the production of functional SMN protein; however, understanding the effect that natural stresses have on the production and function of SMN is of critical importance to ensuring that these therapies will have the greatest possible effect for patients. Research has shown that SMN, both on the mRNA and protein level, is highly affected by cellular stress. In this review we will summarize the research that highlights the roles of SMN in the disease process and the response of SMN to various environmental stresses.

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Year:  2017        PMID: 28852871      PMCID: PMC6201753          DOI: 10.1007/s00439-017-1835-2

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


  193 in total

1.  Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions.

Authors:  Natalia N Singh; Brian M Lee; Ravindra N Singh
Journal:  Ann N Y Acad Sci       Date:  2015-02-27       Impact factor: 5.691

2.  Intracellular Bacterial Pathogens Trigger the Formation of U Small Nuclear RNA Bodies (U Bodies) through Metabolic Stress Induction.

Authors:  Jessica Tsalikis; Ivan Tattoli; Arthur Ling; Matthew T Sorbara; David O Croitoru; Dana J Philpott; Stephen E Girardin
Journal:  J Biol Chem       Date:  2015-07-01       Impact factor: 5.157

Review 3.  MAP kinase pathways activated by stress: the p38 MAPK pathway.

Authors:  T Obata; G E Brown; M B Yaffe
Journal:  Crit Care Med       Date:  2000-04       Impact factor: 7.598

4.  The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy.

Authors:  Simona Pedrotti; Pamela Bielli; Maria Paola Paronetto; Fabiola Ciccosanti; Gian Maria Fimia; Stefan Stamm; James L Manley; Claudio Sette
Journal:  EMBO J       Date:  2010-02-25       Impact factor: 11.598

5.  Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy.

Authors:  D Bühler; V Raker; R Lührmann; U Fischer
Journal:  Hum Mol Genet       Date:  1999-12       Impact factor: 6.150

Review 6.  Spinal muscular atrophy: the role of SMN in axonal mRNA regulation.

Authors:  Claudia Fallini; Gary J Bassell; Wilfried Rossoll
Journal:  Brain Res       Date:  2012-01-28       Impact factor: 3.252

7.  The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons.

Authors:  Claudia Fallini; Honglai Zhang; Yuehang Su; Vincenzo Silani; Robert H Singer; Wilfried Rossoll; Gary J Bassell
Journal:  J Neurosci       Date:  2011-03-09       Impact factor: 6.167

8.  Regulation of alternative splicing by the core spliceosomal machinery.

Authors:  Arneet L Saltzman; Qun Pan; Benjamin J Blencowe
Journal:  Genes Dev       Date:  2011-02-15       Impact factor: 11.361

9.  Neuromuscular defects in a Drosophila survival motor neuron gene mutant.

Authors:  Yick Bun Chan; Irene Miguel-Aliaga; Chris Franks; Natasha Thomas; Barbara Trülzsch; David B Sattelle; Kay E Davies; Marcel van den Heuvel
Journal:  Hum Mol Genet       Date:  2003-06-15       Impact factor: 6.150

10.  Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice.

Authors:  Yimin Hua; Timothy A Vickers; Hazeem L Okunola; C Frank Bennett; Adrian R Krainer
Journal:  Am J Hum Genet       Date:  2008-03-27       Impact factor: 11.025

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  3 in total

Review 1.  Mechanism of Splicing Regulation of Spinal Muscular Atrophy Genes.

Authors:  Ravindra N Singh; Natalia N Singh
Journal:  Adv Neurobiol       Date:  2018

2.  VRK1 functional insufficiency due to alterations in protein stability or kinase activity of human VRK1 pathogenic variants implicated in neuromotor syndromes.

Authors:  Elena Martín-Doncel; Ana M Rojas; Lara Cantarero; Pedro A Lazo
Journal:  Sci Rep       Date:  2019-09-16       Impact factor: 4.379

Review 3.  Alternative Splicing Role in New Therapies of Spinal Muscular Atrophy.

Authors:  Jan Lejman; Grzegorz Zieliński; Piotr Gawda; Monika Lejman
Journal:  Genes (Basel)       Date:  2021-08-28       Impact factor: 4.096

  3 in total

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