Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron-Reference-Cited by-同舟云学术

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Spinal muscular atrophy pathogenic mutations impair the axonogenic properties of axonal-survival of motor neuron

Published:2012-03-14 Issue:3 Volume:121 Page:465-474
ISSN:0022-3042
Container-title:Journal of Neurochemistry
language:en
Short-container-title:

Author:

Locatelli Denise,d’Errico Paolo,Capra Silvia,Finardi Adele,Colciaghi Francesca,Setola Veronica,Terao Mineko,Garattini Enrico,Battaglia Giorgio

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Biochemistry

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1471-4159.2012.07689.x/fullpdf

Reference41 articles.

1. Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits;Akten;Proc. Natl Acad. Sci. USA,2011

2. Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability;Also-Rallo;Eur. J. Hum. Genet.,2011

3. Frameshift mutation in the survival motor neuron gene in a severe case of SMA type I;Brahe;Hum. Mol. Genet.,1996

4. Essential role for the tudor domain of SMN in spliceosomal U snRNP assembly: implications for spinal muscular atrophy;Bühler;Hum. Mol. Genet.,1999

5. Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis;Carrel;J. Neurosci.,2006

Cited by 13 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Real-world evidence: Risdiplam in a patient with spinal muscular atrophy type I with a novel splicing mutation and one SMN2 copy;Human Molecular Genetics;2024-03-23

2. Axon outgrowth and neuronal differentiation defects after a-SMN and FL-SMN silencing in primary hippocampal cultures;PLOS ONE;2018-06-14

3. The chaperone HSPB8 reduces the accumulation of truncated TDP-43 species in cells and protects against TDP-43-mediated toxicity;Human Molecular Genetics;2016-07-27

4. α-COP binding to the survival motor neuron protein SMN is required for neuronal process outgrowth;Human Molecular Genetics;2015-10-13

5. Different Stability and Proteasome-Mediated Degradation Rate of SMN Protein Isoforms;PLOS ONE;2015-07-27

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