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Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies

Research output: Contribution to Journal/Magazine › Journal article › peer-review

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Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies. / Morse, Robert; Todd, Adrian G.; Shaw, Debra J. et al.
In: NeuroMolecular Medicine, Vol. 13, No. 1, 31.03.2011, p. 77-87.

Research output: Contribution to Journal/Magazine › Journal article › peer-review

Harvard

Morse, R, Todd, AG, Shaw, DJ, McConville, AL, Robinson, IM & Young, PJ 2011, 'Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies', NeuroMolecular Medicine, vol. 13, no. 1, pp. 77-87. https://doi.org/10.1007/s12017-010-8139-1

APA

Morse, R., Todd, A. G., Shaw, D. J., McConville, A. L., Robinson, I. M., & Young, P. J. (2011). Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies. NeuroMolecular Medicine, 13(1), 77-87. https://doi.org/10.1007/s12017-010-8139-1

Vancouver

Morse R, Todd AG, Shaw DJ, McConville AL, Robinson IM, Young PJ. Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies. NeuroMolecular Medicine. 2011 Mar 31;13(1):77-87. Epub 2010 Nov 17. doi: 10.1007/s12017-010-8139-1

Author

Morse, Robert ; Todd, Adrian G. ; Shaw, Debra J. et al. / Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies. In: NeuroMolecular Medicine. 2011 ; Vol. 13, No. 1. pp. 77-87.

Bibtex

@article{c52ffc5fe46d43b79b1a86e74e5367d2,
title = "Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies",
abstract = "The childhood disorder spinal muscular atrophy (SMA) is caused by reduced expression of the survival motor neuron (SMN) protein. SMN is a multifunctional protein that has been implicated in the production, processing and transport of RNA and ribonucleoproteins (RNPs). Within the nucleus, SMN is predominantly targeted to Cajal bodies (CB), which are involved in the maturation and processing of several subclasses of RNPs. Here, we show that the SMN exon 2b-encoded domain (SMN2b) is independently sufficient to mediate CB targeting, but that the resulting bodies are less dynamic than those containing full-length SMN protein. We also show that while two SMN proteins harbouring SMA-causing point mutations (A2G and S262I) are efficiently targeted to CBs, they also display reduced nuclear movement.",
keywords = "Cajal bodies, Live cell imaging, SMA, SMN",
author = "Robert Morse and Todd, {Adrian G.} and Shaw, {Debra J.} and McConville, {Alison L.} and Robinson, {Iain M.} and Young, {Philip J.}",
year = "2011",
month = mar,
day = "31",
doi = "10.1007/s12017-010-8139-1",
language = "English",
volume = "13",
pages = "77--87",
journal = "NeuroMolecular Medicine",
issn = "1535-1084",
publisher = "Humana Press",
number = "1",

}

RIS

TY - JOUR

T1 - Mutations in the survival motor neuron (SMN) protein alter the dynamic nature of nuclear bodies

AU - Morse, Robert

AU - Todd, Adrian G.

AU - Shaw, Debra J.

AU - McConville, Alison L.

AU - Robinson, Iain M.

AU - Young, Philip J.

PY - 2011/3/31

Y1 - 2011/3/31

N2 - The childhood disorder spinal muscular atrophy (SMA) is caused by reduced expression of the survival motor neuron (SMN) protein. SMN is a multifunctional protein that has been implicated in the production, processing and transport of RNA and ribonucleoproteins (RNPs). Within the nucleus, SMN is predominantly targeted to Cajal bodies (CB), which are involved in the maturation and processing of several subclasses of RNPs. Here, we show that the SMN exon 2b-encoded domain (SMN2b) is independently sufficient to mediate CB targeting, but that the resulting bodies are less dynamic than those containing full-length SMN protein. We also show that while two SMN proteins harbouring SMA-causing point mutations (A2G and S262I) are efficiently targeted to CBs, they also display reduced nuclear movement.

AB - The childhood disorder spinal muscular atrophy (SMA) is caused by reduced expression of the survival motor neuron (SMN) protein. SMN is a multifunctional protein that has been implicated in the production, processing and transport of RNA and ribonucleoproteins (RNPs). Within the nucleus, SMN is predominantly targeted to Cajal bodies (CB), which are involved in the maturation and processing of several subclasses of RNPs. Here, we show that the SMN exon 2b-encoded domain (SMN2b) is independently sufficient to mediate CB targeting, but that the resulting bodies are less dynamic than those containing full-length SMN protein. We also show that while two SMN proteins harbouring SMA-causing point mutations (A2G and S262I) are efficiently targeted to CBs, they also display reduced nuclear movement.

KW - Cajal bodies

KW - Live cell imaging

KW - SMA

KW - SMN

U2 - 10.1007/s12017-010-8139-1

DO - 10.1007/s12017-010-8139-1

M3 - Journal article

C2 - 21082361

AN - SCOPUS:79952701022

VL - 13

SP - 77

EP - 87

JO - NeuroMolecular Medicine

JF - NeuroMolecular Medicine

SN - 1535-1084

IS - 1

ER -