Crossref journal-article
Wiley
BioEssays (311)
Abstract

AbstractGemins 2–8 and Unr‐interacting protein (UNRIP) are intimate partners of the survival motor neuron (SMN) protein, which is the determining factor for the neuromuscular disorder spinal muscular atrophy (SMA). The most documented role of SMN, Gemins and UNRIP occurs within the large macromolecular SMN complex and involves the cytoplasmic assembly of spliceosomal uridine‐rich small nuclear ribonucleoproteins (UsnRNPs), a housekeeping process critical in all cells. Several reports detailing alternative functions for SMN in either motor neurons or skeletal muscles may, however, hold the answer to the extreme neuromuscular tissue specificity observed in SMA. Recent discoveries indicate that collaboration between SMN and Gemins also extends to these non‐canonical functions, hence raising the possibility that mutations in Gemin genes may be the cause of unlinked neuromuscular hereditary syndromes. This review evaluates the functions of Gemins and UNRIP inside the SMN complex and discusses whether these less notorious SMN complex members are capable of acting independently of SMN.

Bibliography

Cauchi, R. J. (2010). SMN and Gemins: ‘We are family’ … or are we? BioEssays, 32(12), 1077–1089. Portico.

Authors 1
  1. Ruben J. Cauchi (first)
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Dates
Type When
Created 14 years, 10 months ago (Oct. 15, 2010, 2:56 a.m.)
Deposited 1 year, 10 months ago (Oct. 16, 2023, 7:55 p.m.)
Indexed 1 day, 7 hours ago (Aug. 21, 2025, 12:57 p.m.)
Issued 14 years, 10 months ago (Oct. 15, 2010)
Published 14 years, 10 months ago (Oct. 15, 2010)
Published Online 14 years, 10 months ago (Oct. 15, 2010)
Published Print 14 years, 8 months ago (Dec. 1, 2010)
Funders 0

None

@article{Cauchi_2010, title={SMN and Gemins: ‘We are family’ … or are we?: Insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN}, volume={32}, ISSN={1521-1878}, url={http://dx.doi.org/10.1002/bies.201000088}, DOI={10.1002/bies.201000088}, number={12}, journal={BioEssays}, publisher={Wiley}, author={Cauchi, Ruben J.}, year={2010}, month=oct, pages={1077–1089} }